Harmonizome 3.0

From Roadmap Epigenomics

DNA methylation profiles for primary cell types and tissues

From Encyclopedia of DNA Elements

Histone site modification profiles for cell lines from ENCODE

From Encyclopedia of DNA Elements

Transcription factor binding site profiles for cell lines

From Encyclopedia of DNA Elements

Target genes of transcription factors from transcription factor binding site profiles

copper metabolism (Murr1) domain containing 1

Enables several functions, including phosphatidylinositol-3,4-bisphosphate binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including Golgi to plasma membrane transport; negative regulation of protein localization to cell surface; and regulation of protein metabolic process. Acts upstream of or within negative regulation of NF-kappaB transcription factor activity. Located in cytosol; endosome; and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

cholesterol induced regulator of metabolism RNA

pantothenate kinase 3 pseudogene

pantothenate kinase 1

This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]

pantothenate kinase 3

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]

pantothenate kinase 2

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]

pantothenate kinase 4

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

electron-transfer-flavoprotein, alpha polypeptide

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

electron-transfer-flavoprotein, beta polypeptide

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene

NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1

electron-transferring-flavoprotein dehydrogenase

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

electron transfer flavoprotein regulatory factor 1

Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

electron transfer flavoprotein subunit beta lysine methyltransferase

Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) II (DNA directed) polypeptide D pseudogene

thymine-DNA glycosylase

The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]

DNA-damage-inducible transcript 3

This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]

DNA-damage-inducible transcript 4

Predicted to enable 14-3-3 protein binding activity. Involved in negative regulation of TOR signaling and response to hypoxia. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

TAR DNA binding protein pseudogene 1

TAR DNA binding protein pseudogene 2

DNA-damage inducible 1 homolog 2 (S. cerevisiae)

Enables aspartic-type endopeptidase activity; identical protein binding activity; and ubiquitin binding activity. Involved in several processes, including cellular response to hydroxyurea; proteolysis; and regulation of DNA stability. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DNA-damage inducible 1 homolog 1 (S. cerevisiae)

Predicted to enable aspartic-type endopeptidase activity. Involved in several processes, including cellular response to hydroxyurea; regulation of DNA stability; and regulation of protein stability. [provided by Alliance of Genome Resources, Mar 2025]

N-6 adenine-specific DNA methyltransferase 1 (putative)

This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Mar 2023]

N-6 adenine-specific DNA methyltransferase 2 (putative)

Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

DNA (cytosine-5)-methyltransferase 3-like

single stranded DNA binding protein 4 pseudogene

single stranded DNA binding protein 4

Predicted to enable single-stranded DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) mitochondrial (DNA directed) pseudogene

DNA dC->dU-editing enzyme APOBEC-3G-like

single stranded DNA binding protein 4 pseudogene

tyrosyl-DNA phosphodiesterase 2

This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]

growth arrest and DNA-damage-inducible, alpha

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

growth arrest and DNA-damage-inducible, beta

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]

growth arrest and DNA-damage-inducible, gamma

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1

polymerase (DNA directed) nu

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

polymerase (RNA) II (DNA directed) polypeptide C, pseudogene

CENPB DNA-binding domains containing 1

Predicted to enable DNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DNA nucleotidylexotransferase

This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

primase, DNA, polypeptide 1 (49kDa)

The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]

primase, DNA, polypeptide 2 (58kDa)

This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa pseudogene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

primase and polymerase (DNA-directed)

This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

tyrosyl-DNA phosphodiesterase 1

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]

DNA-directed RNA polymerase III subunit RPC5

polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa

The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

polymerase (RNA) III (DNA directed) polypeptide G (32kD)

Enables chromatin binding activity. Involved in positive regulation of innate immune response; positive regulation of interferon-beta production; and transcription by RNA polymerase III. Acts upstream of or within cell population proliferation. Located in cytosol and nuclear body. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]

polymerase (RNA) III (DNA directed) polypeptide E (80kD)

Predicted to be involved in tRNA transcription by RNA polymerase III. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) III (DNA directed) polypeptide B

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

polymerase (RNA) III (DNA directed) polypeptide C (62kD)

Enables single-stranded DNA binding activity. Involved in positive regulation of innate immune response and positive regulation of interferon-beta production. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) III (DNA directed) polypeptide A, 155kDa

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)

Enables DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase III. Located in centrosome and nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

DNA (cytosine-5-)-methyltransferase 1

This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

protein kinase, DNA-activated, catalytic polypeptide

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

uracil-DNA glycosylase pseudogene

DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence

DNA cross-link repair 1C pseudogene 1

DNA replication helicase/nuclease 2

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

DNA methyltransferase 3A pseudogene 1

damage-specific DNA binding protein 2, 48kDa

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

single stranded DNA binding protein 3 pseudogene

single stranded DNA binding protein 4 pseudogene

TAR DNA-binding protein 43 pseudogene

chromatin licensing and DNA replication factor 1

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

polymerase (DNA-directed), delta 4, accessory subunit

This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

helicase (DNA) B

This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Z-DNA binding protein 1

This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

polymerase (DNA directed), epsilon 3, accessory subunit

POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

AT hook, DNA binding motif, containing 1

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

RFX family member 8, lacking RFX DNA binding domain

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

TAR DNA binding protein pseudogene

DNA directed RNA polymerase II polypeptide J-related gene

DNA directed RNA polymerase II polypeptide J-related gene

TAR DNA-binding protein 43 pseudogene

alkylated DNA repair protein alkB homolog 8-like

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1

polymerase (DNA-directed), delta interacting protein 3

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

polymerase (DNA-directed), delta interacting protein 2

This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DNA fragmentation factor, 45kDa, alpha polypeptide

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]

REV3-like, polymerase (DNA directed), zeta, catalytic subunit

The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

p53 and DNA damage-regulated protein 1 pseudogene

multiciliate differentiation and DNA synthesis associated cell cycle protein

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DNA primase large subunit-like

ligase IV, DNA, ATP-dependent

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

ligase I, DNA, ATP-dependent

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ligase III, DNA, ATP-dependent

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

single stranded DNA binding protein 4 pseudogene

single stranded DNA binding protein 3 pseudogene

thymine-DNA glycosylase pseudogene 1

REV1, polymerase (DNA directed)

This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]

TAR DNA-binding protein 43-like

inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)

RAD1 checkpoint DNA exonuclease

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

uracil-DNA glycosylase pseudogene

PIF1 5'-to-3' DNA helicase

This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1

topoisomerase (DNA) III beta pseudogene 1

This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

Myb/SANT-like DNA-binding domain containing 4 with coiled-coils

Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Myb/SANT-like DNA-binding domain containing 1

Predicted to be involved in positive regulation of DNA-templated transcription. Predicted to be active in nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

Myb/SANT-like DNA-binding domain containing 2

Myb/SANT-like DNA-binding domain containing 3

TAR DNA binding protein

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]

Banded krait minor satellite DNA-1

polymerase (DNA directed), gamma

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

polymerase (DNA directed), epsilon, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

polymerase (DNA directed), beta

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

polymerase (DNA directed), mu

Predicted to enable DNA-directed DNA polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (DNA directed), lambda

This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]

polymerase (DNA directed) kappa

This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]

polymerase (DNA directed) iota

The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]

polymerase (DNA directed), eta

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Myb/SANT-like DNA-binding domain containing 3 pseudogene

polymerase (DNA directed), epsilon 2, accessory subunit

DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]

polymerase (DNA-directed), epsilon 4, accessory subunit

POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

topoisomerase (DNA) II beta 180kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

topoisomerase (DNA) II alpha 170kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]

growth arrest and DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

DNA cross-link repair 1B

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

DNA cross-link repair 1C

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DNA cross-link repair 1A

This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

DNA fragmentation factor, 40kDa, beta polypeptide pseudogene 1

HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

killin, p53-regulated DNA replication inhibitor

The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]

chromodomain helicase DNA binding protein 1-like

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]

chromodomain helicase DNA binding protein 1

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

chromodomain helicase DNA binding protein 3

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

chromodomain helicase DNA binding protein 2

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

chromodomain helicase DNA binding protein 5

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

chromodomain helicase DNA binding protein 4

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

chromodomain helicase DNA binding protein 7

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

chromodomain helicase DNA binding protein 6

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]

chromodomain helicase DNA binding protein 9

Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ATP-dependent activity, acting on DNA. Predicted to be involved in DNA duplex unwinding; chromatin looping; and chromatin remodeling. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromodomain helicase DNA binding protein 8

This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

CENPB DNA-binding domains containing 1 pseudogene 1

N-methylpurine-DNA glycosylase

Predicted to enable alkylbase DNA N-glycosylase activity. Predicted to be involved in base-excision repair. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (RNA) mitochondrial (DNA directed)

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

DNA-damage regulated autophagy modulator 1 pseudogene

O-6-methylguanine-DNA methyltransferase

Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]

geminin, DNA replication inhibitor

This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]

polymerase (DNA directed), theta

Enables several functions, including catalytic activity, acting on DNA; identical protein binding activity; and magnesium ion binding activity. Involved in DNA metabolic process; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. Is active in mitochondrial nucleoid; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

growth arrest and DNA-damage-inducible, alpha pseudogene 1

polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like

Predicted to enable chromatin binding activity. Involved in transcription by RNA polymerase III. Located in nucleus. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Mar 2025]

single-stranded DNA binding protein 2 pseudogene

polymerase (RNA) II (DNA directed) polypeptide L pseudogene

DNA-damage regulated autophagy modulator 1

This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]

DNA-damage regulated autophagy modulator 2

The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]

APEX nuclease (multifunctional DNA repair enzyme) 1

The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]

8-oxoguanine DNA glycosylase

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

topoisomerase (DNA) I pseudogene 1

topoisomerase (DNA) I pseudogene 2

scaffolding protein involved in DNA repair

Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. Implicated in 46 XX gonadal dysgenesis. [provided by Alliance of Genome Resources, Mar 2025]

p53 and DNA-damage regulated 1

Predicted to enable unfolded protein binding activity. Predicted to be involved in protein stabilization. Part of RPAP3/R2TP/prefoldin-like complex. [provided by Alliance of Genome Resources, Mar 2025]

DNA methyltransferase 1 associated protein 1

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

single-strand-selective monofunctional uracil-DNA glycosylase 1

This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]

SON DNA binding protein

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

DNA-damage-inducible transcript 4-like

Predicted to be involved in negative regulation of signal transduction. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

uracil-DNA glycosylase pseudogene

geminin, DNA replication inhibitor pseudogene 1

damage-specific DNA binding protein 1, 127kDa

The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

polymerase (DNA directed), alpha 2, accessory subunit

Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Mar 2025]

polymerase (DNA directed), alpha 1, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2

MMS22-like, DNA repair protein

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1

topoisomerase (DNA) I, mitochondrial

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

DNA (cytosine-5-)-methyltransferase 3 beta

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

DNA (cytosine-5-)-methyltransferase 3 alpha

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]

DNA (cytosine-5-)-methyltransferase 3-like

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

DNA-directed RNA polymerase II subunit RPB1-like

N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene

uracil-DNA glycosylase

This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]

Kin17 DNA and RNA binding protein

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene

polymerase (RNA) II (DNA directed) polypeptide J2

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide J3

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

polymerase (DNA directed), delta 2, accessory subunit pseudogene 1

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

polymerase (RNA) II (DNA directed) polypeptide D

This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide G

This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]

polymerase (RNA) II (DNA directed) polypeptide F

This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

polymerase (RNA) II (DNA directed) polypeptide A, 220kDa

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide C, 33kDa

This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide B, 140kDa

This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

polymerase (RNA) II (DNA directed) polypeptide M

This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]

polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide H

The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa

This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]

DNA dC->dU-editing enzyme APOBEC-3G-like

topoisomerase (DNA) III alpha

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

topoisomerase (DNA) III beta

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

DNA meiotic recombinase 1

This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

single-stranded DNA binding protein 1, mitochondrial

SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

single stranded DNA binding protein 3

Predicted to enable single-stranded DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

single-stranded DNA binding protein 2

This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]

polymerase (DNA directed), delta 1, catalytic subunit 125kDa pseudogene

topoisomerase (DNA) II binding protein 1

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]

polymerase (DNA directed), delta 1, catalytic subunit

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

polymerase (DNA directed), delta 2, accessory subunit

This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]

polymerase (DNA-directed), delta 3, accessory subunit

This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

inhibitor of DNA binding 4, dominant negative helix-loop-helix protein

This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017]

inhibitor of DNA binding 2, dominant negative helix-loop-helix protein

The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]

inhibitor of DNA binding 3, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]

inhibitor of DNA binding 1, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

single stranded DNA binding protein 4 pseudogene

GC-rich sequence DNA-binding factor 2

The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]

primase, DNA, polypeptide 1 (49kDa) pseudogene

polymerase (RNA) mitochondrial (DNA directed) pseudogene 1

geminin, DNA replication inhibitor pseudogene 2

DNA damage-induced apoptosis suppressor

Involved in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage and regulation of DNA stability. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

topoisomerase (DNA) I

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]

primase, DNA, polypeptide 2 (58kDa) pseudogene

tonsoku-like, DNA repair protein

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

polymerase (DNA directed), epsilon 2, accessory subunit pseudogene

uracil-DNA glycosylase pseudogene 1

uracil-DNA glycosylase pseudogene 3

uracil-DNA glycosylase pseudogene 2

DNA associated with cytoplasmic membrane

single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1

DNA fragmentation factor, 45kDa, alpha polypeptide pseudogene

polymerase (DNA directed), gamma 2, accessory subunit

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

mediator of DNA-damage checkpoint 1

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

promoter of CDKN1A antisense DNA damage activated RNA

This gene produces a non-coding RNA that is thought to regulate the response to DNA damage. This gene is induced by tumor protein p53 and interacts with and modulates the activity of a transcription factor that induce pro-apoptotic genes. Deregulation of this gene is associated with cancer progression. [provided by RefSeq, Dec 2017]

RPA1 related single stranded DNA binding protein, X-linked

Enables single-stranded DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in nuclear speck and replication fork. [provided by Alliance of Genome Resources, Mar 2025]

PWWP domain containing 3A, DNA repair factor

Enables nucleosome binding activity. Involved in DNA repair and chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

F-box DNA helicase 1

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

CENPB DNA-binding domains containing 2, pseudogene

Myb/SANT DNA binding domain containing 5

CENPB DNA-binding domain containing 1, pseudogene

Predicted to enable DNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

non-coding RNA activated by DNA damage

Predicted to enable protein sequestering activity. Predicted to be involved in several processes, including determination of adult lifespan; hair follicle development; and skeletal muscle fiber development. Predicted to be active in cytoplasm. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

Myb/SANT DNA binding domain containing 7

regulator of DNA class I crossover intermediates 1

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA/pantothenate metabolism flavoprotein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From Reactome Pathways 2014

proteins participating in the Vitamin B5 (pantothenate) metabolism pathway from the Reactome Pathways dataset.

From Reactome Pathways 2024

proteins participating in the Vitamin B5 (pantothenate) metabolism pathway from the Reactome Pathways 2024 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA nucleotidylexotransferase (TdT) / DNA-directed DNA/RNA polymerase mu protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the calcium pantothenate-4189 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the calcium pantothenate-1311 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the calcium pantothenate-4775 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the calcium pantothenate-3248 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pantothenate Kinase-Associated Neurodegeneration from the curated CTD Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease pantothenate kinase-associated neurodegeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pantothenate kinase-associated neurodegeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GO Biological Process Annotations 2015

genes participating in the pantothenate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the pantothenate transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the pantothenate kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pantothenate kinase, acetyl-CoA regulated, two-domain type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Type II pantothenate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From KEGG Pathways

proteins participating in the pantothenate and coa biosynthesis pathway from the KEGG Pathways dataset.

From GO Biological Process Annotations 2023

genes participating in the pantothenate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the pantothenate transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the pantothenate kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the pantothenate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Biological Process Annotations 2025

genes participating in the pantothenate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the pantothenate transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the pantothenate kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the pantothenate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Pantothenate kinase-associated neurodegeneration from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pantothenate kinase-associated neurodegeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From KEGG Pathways 2026

proteins participating in the Pantothenate and CoA biosynthesis pathway from the KEGG Pathways 2026 dataset.

From DGIdb Drug Targets 2026

interacting proteins for the CALCIUM PANTOTHENATE drug from theDGIdb Drug Targets 2026 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the electron transfer flavoprotein complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial electron transfer flavoprotein complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term flavoprotein in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Molecular Function Annotations 2015

genes performing the electron-transferring-flavoprotein dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From HPO Gene-Disease Associations

genes associated with the electron transfer flavoprotein-ubiquinone oxidoreductase defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavoprotein pyridine nucleotide cytochrome reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavoprotein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Electron transfer flavoprotein-ubiquinone oxidoreductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinate dehydrogenase/fumarate reductase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Electron transfer flavoprotein, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADH-ubiquinone oxidoreductase flavoprotein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavoprotein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Electron transfer flavoprotein, beta-subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Electron transfer flavoprotein, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GO Molecular Function Annotations 2023

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the electron-transferring-flavoprotein dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Electron transfer flavoprotein complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Electron transfer flavoprotein complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Mitochondrial electron transfer flavoprotein complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From GAD Gene-Disease Associations

genes associated with the disease fluvoxamine metabolism; omeprazole metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease omeprazole metabolism; sulfone metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From CORUM Protein Complexes

proteins in the DNA ligase IV-Xrcc4-DNA-protein kinase complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the DNA ligase III-XRCC1-PNK-DNA-pol III multiprotein complex protein complex from the CORUM Protein Complexes dataset.

From GO Biological Process Annotations 2015

genes participating in the dna synthesis involved in dna repair biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna-dependent dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna damage response, detection of dna damage biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of dna-dependent dna replication initiation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna dealkylation involved in dna repair biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna strand elongation involved in dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of dna-dependent dna replication initiation biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna ligation involved in dna recombination biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna ligation involved in dna repair biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna-dependent dna replication maintenance of fidelity biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the dna unwinding involved in dna replication biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the single-stranded dna-dependent atp-dependent dna helicase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the dna-directed dna polymerase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, exonuclease domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, multifunctional domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylated-DNA-[protein]-cysteine S-methyltransferase, DNA binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA glycosylase/AP lyase, H2TH DNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA-polymerase, family A, mitochondria protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc finger, DNA-directed DNA polymerase, family B, alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase I, DNA binding, eukaryotic-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase, type IA, DNA-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase X protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA helicase (DNA repair), Rad3 type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA/RNA polymerase mu protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family A, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family A, palm domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA glycosylase/AP lyase, zinc finger domain, DNA-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From Reactome Pathways 2014

proteins participating in the Translesion synthesis by DNA polymerases bypassing lesion on DNA template pathway from the Reactome Pathways dataset.

From Reactome Pathways 2014

proteins participating in the Integration of viral DNA into host genomic DNA pathway from the Reactome Pathways dataset.

From GO Biological Process Annotations 2023

genes participating in the regulation of DNA-templated DNA replication initiation biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA unwinding involved in DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the negative regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the mitotic DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA synthesis involved in mitotic DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA synthesis involved in DNA repair biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA strand elongation involved in DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the positive regulation of DNA-directed DNA polymerase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA dealkylation involved in DNA repair biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA ligation involved in DNA recombination biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA ligation involved in DNA repair biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the positive regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA strand elongation involved in mitotic DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA-templated DNA replication maintenance of fidelity biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA synthesis involved in DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the regulation of DNA-directed DNA polymerase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Biological Process Annotations 2023

genes participating in the DNA strand elongation involved in nuclear cell cycle DNA replication biological process from the curated GO Biological Process Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the DNA-directed DNA polymerase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the DNA/DNA annealing activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the single-stranded DNA 5'-3' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the single-stranded DNA 3'-5' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the double-stranded DNA 3'-5' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From Reactome Pathways 2024

proteins participating in the Integration of viral DNA into host genomic DNA pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template pathway from the Reactome Pathways 2024 dataset.

From GO Biological Process Annotations 2025

genes participating in the regulation of DNA-templated DNA replication initiation biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the negative regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the mitotic DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA synthesis involved in mitotic DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA synthesis involved in DNA repair biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA strand elongation involved in DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the positive regulation of DNA-directed DNA polymerase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the chromosomal DNA methylation maintenance following DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the positive regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA strand elongation involved in mitotic DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA-templated DNA replication maintenance of fidelity biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the regulation of DNA-templated DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA synthesis involved in DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Biological Process Annotations 2025

genes participating in the DNA strand elongation involved in nuclear cell cycle DNA replication biological process from the curated GO Biological Process Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the DNA-directed DNA polymerase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the DNA/DNA annealing activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the single-stranded DNA 3'-5' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the single-stranded DNA 5'-3' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the double-stranded DNA 3'-5' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the double-stranded DNA 5'-3' DNA exonuclease activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the DNA-dependent protein kinase-DNA ligase 4 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the DNA-dependent protein kinase-DNA ligase 4 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From Biocarta Pathways

proteins participating in the metabolism of anandamide an endogenous cannabinoid pathway from the Biocarta Pathways dataset.

From Biocarta Pathways

proteins participating in the eicosanoid metabolism pathway from the Biocarta Pathways dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone metabolism, abnormal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Debrisoquine, poor metabolism of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Surfactant metabolism dysfunction, pulmonary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Surfactant metabolism dysfunction, pulmonary, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Surfactant metabolism dysfunction, pulmonary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Surfactant metabolism dysfunction, pulmonary, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Surfactant metabolism dysfunction, pulmonary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Mephenytoin, poor metabolism of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug Metabolism, Poor, CYP2D6-Related from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Drug Metabolism, Poor, CYP2C19-Related from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipid Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron Metabolism Disorders from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine-Pyrimidine Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thyroid Hormone Metabolism, Abnormal from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipid Metabolism Disorders from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amino Acid Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucose Metabolism Disorders from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Surfactant Metabolism Dysfunction, Pulmonary, 1 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Surfactant Metabolism Dysfunction, Pulmonary, 2 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Surfactant Metabolism Dysfunction, Pulmonary, 4 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphorus Metabolism Disorders from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Surfactant Metabolism Dysfunction, Pulmonary, 3 from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbohydrate Metabolism, Inborn Errors from the curated CTD Gene-Disease Associations dataset.

From dbGAP Gene-Trait Associations

genes associated with the trait Metabolism in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

From dbGAP Gene-Trait Associations

genes associated with the trait Lipid Metabolism in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease metal metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease glycogen metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease carbohydrate metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease mitochondrial metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease plasma protein metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease gamma-amino butyric acid metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease histidine metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease mineral metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease glucose metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease phosphorus metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease disease of metabolism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease lipid metabolism disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease iron metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease carbohydrate metabolism disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease glucose metabolism disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease mineral metabolism disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease disease of metabolism in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease lipid metabolism disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease iron metabolism disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease mitochondrial metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease lipid metabolism disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease iron metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease mineral metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease calcium metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease glycogen metabolism disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease phosphorus metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease plasma protein metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease metal metabolism disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease histidine metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease carbohydrate metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease glucose metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease disease of metabolism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease gamma-amino butyric acid metabolism disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease insulin-like growth factor-1; estrogen metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease omeprazole metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease catecholestrogen formation; catecholestrogen metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism disorders; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease altered b vitamin/thiol metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; glucose metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease clomipramine metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular disease; lipid metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease genetically deficient metabolism of debrisoquine and other drugs in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease diclofenac metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2; body fat; lipid metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease biliary calculi; cholecystolithiasis; gallstones; lipid metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lead and mercury metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease beta thalassemia; beta-thalassemia; hemochromatosis; iron overload; metal metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease disorder of muscle, unspec; lipid metabolism, inborn errors; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease leukemia; hemochromatosis; iron metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease basal metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease 1-carbon metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis, coronary; lipid metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carisoprodol metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease iron metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism disorders; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease phenytoin metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease serum low-density lipoprotein metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease glucose metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease flubiprofen metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease tamoxifen, metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alprazolam metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease gastritis; glucose metabolism disorders; helicobacter infections; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease calcium metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; dementia; dementia, vascular; lipid metabolism disorders; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease glucose tolerance; lipid metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease arsenic metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease citalopram metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease glucose metabolism disorders; obesity; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism disorders; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease glucose metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease doxepin metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amitriptyline metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; iron metabolism disorders; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease birth weight; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, ldl; insulin; metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease drug metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease metabolism of toluene di-isocyanate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease homocysteine metabolism, cognition, and white matter lesions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 2; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease mephobarbital metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease iron metabolism disorders; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism, inborn errors; sudden infant death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease metabolism of benzo[a]pyrene (b[a]p) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease metabolism disorders; myocardial infarction; stroke, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease heart rate; risperidone metabolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; metal metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism and adiposity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis, coronary; metabolism disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease lipid metabolism disorders; hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; lipid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term metabolism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Arsenic metabolism phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lipid metabolism phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease calcium metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease metal metabolism disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease carbohydrate metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease glucose metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease phosphorus metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease mineral metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease disease of metabolism in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease lipid metabolism disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Disease Associations

genes associated with the disease iron metabolism disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin d metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of glycolipid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin a metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin b metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of aromatic amino acid family metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of amino acid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of homocysteine metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of tryptophan metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of cholesterol metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of liposaccharide metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of unsaturated fatty acid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of fatty-acid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of proteoglycan metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of metabolism/homeostasis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of lipid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of carbohydrate metabolism/homeostasis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the vitamin b12 metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of sulfur amino acid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of carboxylic acid metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of glycoprotein metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of vitamin e metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of polysaccharide metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of nucleobase metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of purine metabolism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycolipid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycoprotein metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of prostaglandin metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of alanine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of cysteine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of metabolism/homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of ganglioside metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of tyrosine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of carbohydrate metabolism/homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycosaminoglycan metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of orotic acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of dicarboxylic acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of leucine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of proteoglycan metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin k metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of pyruvate family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of fatty-acid anion metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin e metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of purine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of xanthine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of phytanic acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of unsaturated fatty acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glutamine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of histidine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of mitochondrial metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycosphingolipid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of citrulline metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of serine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of lysine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glycoside metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin d metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of galactoside metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of liposaccharide metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of pyrimidine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of homocysteine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of branched chain family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of arginine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of carboxylic acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of long-chain fatty-acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of aspartate family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of lipid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of mucopolysaccharide metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of threonine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of sulfur amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of superoxide metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of polysaccharide metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of cerebrosidase metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of carnitine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of monocarboxylic acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of lysosomal metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of phenylalanine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of methionine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the impairment of galactose metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of serine family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of ornithine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of cholesterol metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of krebs cycle metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of calcium-phosphate metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of vitamin b metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of the vitamin b12 metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the impairment of fructose metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of aromatic amino acid family metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of creatine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of glutamine family amino acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of fatty-acid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of proline metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the abnormality of nucleobase metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lipid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Iron Metabolism Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Purine-Pyrimidine Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Steroid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lipid Metabolism Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Amino Acid Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Glucose Metabolism Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Metal Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Carbohydrate Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Calcium Metabolism Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From HumanCyc Pathways

proteins participating in the D-myo-inositol-5-phosphate metabolism pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the thyroid hormone metabolism II (via conjugation and/or degradation) pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the sphingosine and sphingosine-1-phosphate metabolism pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the acyl carrier protein metabolism pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the sphingomyelin metabolism/ceramide salvage pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the thyronamine and iodothyronamine metabolism pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the thyroid hormone metabolism I (via deiodination) pathway from the HumanCyc Pathways dataset.

From HumanCyc Pathways

proteins participating in the superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism pathway from the HumanCyc Pathways dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane associated eicosanoid/glutathione metabolism-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane-associated, eicosanoid/glutathione metabolism (MAPEG) protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cys/Met metabolism, pyridoxal phosphate-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From KEGG Pathways

proteins participating in the arachidonic acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the nucleotide sugars metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the lipoic acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the androgen and estrogen metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the riboflavin metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glutamate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the d glutamine and d glutamate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the phenylalanine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glyoxylate and dicarboxylate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the sulfur metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the thiamine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the cysteine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glycine serine and threonine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the linoleic acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the methionine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the beta alanine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the arginine and proline metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the metabolism of xenobiotics by cytochrome p450 pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the urea cycle and metabolism of amino groups pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the selenoamino acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the aminophosphonate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glutathione metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the taurine and hypotaurine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the nitrogen metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the retinol metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the starch and sucrose metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glycerophospholipid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the histidine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the caffeine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the c5 branched dibasic acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the nicotinate and nicotinamide metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the fatty acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the c21 steroid hormone metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the tryptophan metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the aminosugars metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the sphingolipid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the tyrosine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the inositol metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the butanoate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the glycerolipid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the fructose and mannose metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the propanoate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the pyruvate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the porphyrin and chlorophyll metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the purine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the ether lipid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the ascorbate and aldarate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the methane metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the alanine and aspartate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the cyanoamino acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the pyrimidine metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the inositol phosphate metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the biotin metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the alpha linolenic acid metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the galactose metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the vitamin b6 metabolism pathway from the KEGG Pathways dataset.

From KEGG Pathways

proteins participating in the d arginine and d ornithine metabolism pathway from the KEGG Pathways dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinol metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lipid metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the homeostasis/metabolism phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal response/metabolism to endogenous compounds phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin a metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cellular cholesterol metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ethanol metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal nucleotide metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the increased basal metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal vitamin or vitamin cofactor metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal basal metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the microcephaly, short stature, and impaired glucose metabolism phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thyroid hormone metabolism, abnormal phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the surfactant metabolism dysfunction, pulmonary, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the efavirenz, poor metabolism of phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the surfactant metabolism dysfunction, pulmonary, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the surfactant metabolism dysfunction, pulmonary, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the surfactant metabolism dysfunction, pulmonary, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

From OMIM Gene-Disease Associations

genes associated with the surfactant metabolism dysfunction, pulmonary, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

From PANTHER Pathways

proteins participating in the Triacylglycerol metabolism pathway from the PANTHER Pathways dataset.

From PANTHER Pathways

proteins participating in the Thiamine metabolism pathway from the PANTHER Pathways dataset.

From PANTHER Pathways

proteins participating in the Vitamin B6 metabolism pathway from the PANTHER Pathways dataset.

From PANTHER Pathways

proteins participating in the Purine metabolism pathway from the PANTHER Pathways dataset.

From PANTHER Pathways

proteins participating in the Fructose galactose metabolism pathway from the PANTHER Pathways dataset.

From PANTHER Pathways

proteins participating in the Coenzyme A linked carnitine metabolism pathway from the PANTHER Pathways dataset.