Harmonizome 3.0

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures plus, type 6

Epilepsy, generalized, with febrile seizures plus, type 4

MAD2 mitotic arrest deficient-like 2 (yeast)

The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]

MAD2 mitotic arrest deficient-like 1 (yeast)

MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008]

MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1

BUB1 mitotic checkpoint serine/threonine kinase

This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

BUB3 mitotic checkpoint protein

This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

mitotic spindle organizing protein 2A

Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

mitotic spindle organizing protein 2B

Located in cytosol; microtubule cytoskeleton; and nucleoplasm. Part of gamma-tubulin ring complex. [provided by Alliance of Genome Resources, Mar 2025]

BUB3 mitotic checkpoint protein pseudogene 1

nuclear mitotic apparatus protein 1

This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

mitotic spindle positioning

The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]

MAD1 mitotic arrest deficient-like 1 (yeast)

MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

BUB1 mitotic checkpoint serine/threonine kinase B

This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]

mitotic spindle organizing protein 1 pseudogene 2

mitotic spindle organizing protein 1

Involved in gamma-tubulin complex localization. Located in centrosome and spindle. Part of gamma-tubulin ring complex. [provided by Alliance of Genome Resources, Mar 2025]

mitotic spindle assembly checkpoint protein MAD2A-like

antagonist of mitotic exit network 1 homolog (S. cerevisiae)

Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Predicted to be active in microvillus membrane. [provided by Alliance of Genome Resources, Mar 2025]

BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1

MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene

mitotic deacetylase associated SANT domain protein

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PICALM interacting mitotic regulator

Predicted to be involved in cell division. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

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

polymerase (RNA) mitochondrial (DNA directed) pseudogene

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

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

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]

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]

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]

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]

DNA directed RNA polymerase II polypeptide J-related gene

DNA directed RNA polymerase II polypeptide J-related gene

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]

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]

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]

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

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]

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]

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]

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]

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

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

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

DNA-directed RNA polymerase II subunit RPB1-like

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]

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

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]

polymerase (RNA) mitochondrial (DNA directed) pseudogene 1

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

microtubule-associated protein 10

Enables microtubule binding activity. Involved in microtubule cytoskeleton organization; positive regulation of cytokinesis; and regulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of Genome Resources, Mar 2025]

microtubule-associated protein 1A

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]

microtubule-associated protein 1B

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]

microtubule-associated protein 1S

Enables DNA binding activity and cytoskeletal protein binding activity. Involved in metaphase chromosome alignment; microtubule cytoskeleton organization; and neuron projection morphogenesis. Located in several cellular components, including microtubule cytoskeleton; nuclear lumen; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

microtubule-associated protein 1 light chain 3 beta 2

Predicted to enable microtubule binding activity; phosphatidylethanolamine binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in cellular response to nitrogen starvation and macroautophagy. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

MAP/microtubule affinity-regulating kinase 4

This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

MAP/microtubule affinity-regulating kinase 1

Enables several functions, including ATP binding activity; magnesium ion binding activity; and phospholipid binding activity. Involved in intracellular signal transduction; negative regulation of epithelial to mesenchymal transition; and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

MAP/microtubule affinity-regulating kinase 2

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

MAP/microtubule affinity-regulating kinase 3

The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

microtubule-associated protein 2

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]

microtubule-associated protein 6

This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

microtubule-associated protein 7

The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

microtubule-associated protein 4

The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

microtubule-associated protein tau

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

microtubule cross-linking factor 1-like

regulator of microtubule dynamics 2

Enables microtubule binding activity. Located in Golgi apparatus; cytosol; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

regulator of microtubule dynamics 3

Enables microtubule binding activity. Involved in intracellular calcium ion homeostasis. Located in several cellular components, including intercellular bridge; mitochondrial outer membrane; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

regulator of microtubule dynamics 1

Enables microtubule binding activity. Predicted to be involved in attachment of mitotic spindle microtubules to kinetochore and mitotic spindle organization. Located in mitotic spindle pole and spindle microtubule. [provided by Alliance of Genome Resources, Mar 2025]

microtubule associated tumor suppressor 1

This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]

microtubule associated tumor suppressor candidate 2

Enables microtubule binding activity and protein homodimerization activity. Located in centrosome; cytoplasmic microtubule; and intercellular bridge. Part of nucleus. [provided by Alliance of Genome Resources, Mar 2025]

hook microtubule-tethering protein 2

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

hook microtubule-tethering protein 3

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

hook microtubule-tethering protein 1

This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Janus kinase and microtubule interacting protein 3

Predicted to enable kinase binding activity and microtubule binding activity. Predicted to be located in Golgi apparatus and membrane. [provided by Alliance of Genome Resources, Mar 2025]

janus kinase and microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

janus kinase and microtubule interacting protein 1

Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

MAP/microtubule affinity-regulating kinase 2 pseudogene

MAP/microtubule affinity-regulating kinase 1 pseudogene

microtubule associated serine/threonine kinase-like

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]

microtubule associated serine/threonine kinase 1

This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]

microtubule associated serine/threonine kinase 2

Enables phosphatase binding activity. Predicted to be involved in several processes, including protein phosphorylation; regulation of interleukin-12 production; and spermatid differentiation. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

microtubule associated serine/threonine kinase 3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Mar 2025]

microtubule associated serine/threonine kinase family member 4

This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

microtubule-associated protein 6 pseudogene

microtubule crosslinking factor 1

Enables microtubule binding activity. Involved in chromosome segregation. Located in kinetochore; midbody; and spindle. [provided by Alliance of Genome Resources, Mar 2025]

TPX2, microtubule-associated

Enables importin-alpha family protein binding activity; molecular adaptor activity; and protein kinase binding activity. Involved in activation of protein kinase activity; microtubule cytoskeleton organization; and negative regulation of microtubule depolymerization. Located in intercellular bridge; nucleoplasm; and spindle. Is active in spindle. [provided by Alliance of Genome Resources, Mar 2025]

MAP/microtubule affinity-regulating kinase 2 pseudogene 12

MIT, microtubule interacting and transport, domain containing 1

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

MAP/microtubule affinity-regulating kinase 2 pseudogene 8

MAP/microtubule affinity-regulating kinase 2 pseudogene 9

MAP/microtubule affinity-regulating kinase 2 pseudogene 4

MAP/microtubule affinity-regulating kinase 2 pseudogene 5

MAP/microtubule affinity-regulating kinase 2 pseudogene 6

MAP/microtubule affinity-regulating kinase 2 pseudogene 7

MAP/microtubule affinity-regulating kinase 2 pseudogene 1

MAP/microtubule affinity-regulating kinase 2 pseudogene 2

MAP/microtubule affinity-regulating kinase 2 pseudogene 3

MAP/microtubule affinity-regulating kinase 2 pseudogene

MAP/microtubule affinity-regulating kinase 4 pseudogene

echinoderm microtubule associated protein like 2

Enables microtubule binding activity. Involved in negative regulation of microtubule polymerization and regulation of microtubule nucleation. Located in mitotic spindle. [provided by Alliance of Genome Resources, Mar 2025]

echinoderm microtubule associated protein like 3

Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

echinoderm microtubule associated protein like 1

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

echinoderm microtubule associated protein like 6

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

echinoderm microtubule associated protein like 4

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

echinoderm microtubule associated protein like 5

Predicted to enable microtubule binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

microtubule-actin crosslinking factor 1

This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]

microtubule-associated protein 1 light chain 3 beta pseudogene 1

MAP/microtubule affinity-regulating kinase 2 pseudogene

microtubule-associated protein 1 light chain 3 beta pseudogene

MAP/microtubule affinity-regulating kinase 4 pseudogene

microtubule-associated protein 1 light chain 3 beta pseudogene

microtubule-associated protein 9

ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]

microtubule-associated protein, RP/EB family, member 1

The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]

microtubule-associated protein, RP/EB family, member 3

The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]

microtubule-associated protein, RP/EB family, member 2

The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

MAP/microtubule affinity-regulating kinase 2 pseudogene 16

MAP/microtubule affinity-regulating kinase 2 pseudogene 17

MAP/microtubule affinity-regulating kinase 2 pseudogene 14

MAP/microtubule affinity-regulating kinase 2 pseudogene 15

MAP/microtubule affinity-regulating kinase 2 pseudogene 13

MAP/microtubule affinity-regulating kinase 2 pseudogene 10

MAP/microtubule affinity-regulating kinase 2 pseudogene 11

microtubule associated monooxygenase, calponin and LIM domain containing 1

This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

microtubule associated monooxygenase, calponin and LIM domain containing 2

The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]

microtubule associated monooxygenase, calponin and LIM domain containing 3

Enables actin binding activity and molecular adaptor activity. Involved in actin filament depolymerization. Located in several cellular components, including Flemming body; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

microtubule-associated protein 1 light chain 3 pseudogene

microtubule-associated protein 1 light chain 3 alpha

MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]

microtubule-associated protein 1 light chain 3 gamma

Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]

microtubule-associated protein 1 light chain 3 beta

The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]

microtubule-binding protein-like

MAP/microtubule affinity-regulating kinase 3 pseudogene 1

MAP/microtubule affinity-regulating kinase 3 pseudogene 3

MAP/microtubule affinity-regulating kinase 3 pseudogene 2

MAP/microtubule affinity-regulating kinase 2 pseudogene

MAP/microtubule affinity-regulating kinase 2 pseudogene

microtubule-associated protein 1 light chain 3 beta pseudogene

Jupiter microtubule associated homolog 2

Involved in endocytosis involved in viral entry into host cell and regulation of calcium-mediated signaling. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Jupiter microtubule associated homolog 1

Located in cytosol; intercellular bridge; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

microtubule associated tyrosine carboxypeptidase 2

Predicted to enable carboxypeptidase activity; metal ion binding activity; and metallopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Mar 2025]

piercer of microtubule wall 1

Predicted to be involved in axoneme assembly; establishment of left/right asymmetry; and flagellated sperm motility. Predicted to act upstream of or within DNA damage response; cellular response to UV-C; and regulation of gene expression. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

piercer of microtubule wall 2

Predicted to be involved in axoneme assembly; determination of left/right symmetry; and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

microtubule associated tyrosine carboxypeptidase 1

Enables tubulin-tyrosine carboxypeptidase. Predicted to be involved in brain development. Is active in microtubule. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule associated protein 1B

Predicted to be located in motile cilium. Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 3

ciliary microtubule associated protein 3

Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in ciliary basal body and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule inner protein 3

Predicted to enable calcium ion binding activity. Predicted to be involved in visual perception. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 8

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule associated protein 1C

Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule inner protein 7

sperm microtubule associated protein 2

This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ciliary microtubule inner protein 2C

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule inner protein 4

Predicted to be located in sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule inner protein 2A

Predicted to be involved in flagellated sperm motility. Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 6

This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ciliary microtubule inner protein 1

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

ciliary microtubule associated protein 1A

ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]

sperm microtubule inner protein 2

sperm microtubule inner protein 9

Predicted to be involved in flagellated sperm motility. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 7

Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 5

Predicted to be involved in flagellated sperm motility. Predicted to be located in several cellular components, including cytoskeleton; motile cilium; and nucleus. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule associated protein 2

sperm microtubule inner protein 10

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal B tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule inner protein 1

sperm microtubule inner protein 11

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flagellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of Genome Resources, Mar 2025]

ciliary microtubule inner protein 2B

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

sperm microtubule associated protein 2 like

sperm microtubule inner protein 4

sperm microtubule associated protein 1

manchette microtubule inner protein 1

Predicted to be involved in actin filament organization and cell migration. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 12

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

chromosome 10 open reading frame 88

Enables ATP hydrolysis activity. Predicted to be involved in chromatin looping and chromatin remodeling. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 119 pseudogene

chromosome 22 open reading frame 39

Predicted to be involved in negative regulation of long-term synaptic potentiation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 22 open reading frame 31

chromosome 22 open reading frame 34

chromosome 1 open reading frame 189

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 185

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 186

Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 58

chromosome X open reading frame 56

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

chromosome X open reading frame 57

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]

chromosome 12 open reading frame 4

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

chromosome 14 open reading frame 119

Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 15

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 5p13 duplication syndrome

chromosome 10 open reading frame 105

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 107

Predicted to enable calcium ion binding activity. Predicted to act upstream of or within sperm flagellum assembly. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

Obesity, susceptibility to, on chromosome 4

chromosome 1 open reading frame 234

Predicted to be involved in single fertilization. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 81

Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 27A pseudogene

chromosome 14 open reading frame 79

Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 96

chromosome 17 open reading frame 47

chromosome 17 open reading frame 49

Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 15q26-qter deletion syndrome

chromosome 11 open reading frame 49

Enables protein-macromolecule adaptor activity. Involved in regulation of protein complex stability. Is active in centriolar satellite. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 40

chromosome 11 open reading frame 42

chromosome 11 open reading frame 45

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 18

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

chromosome 7 open reading frame 43

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 16 pseudogene

chromosome 9 open reading frame 118

chromosome 9 open reading frame 117

Predicted to enable microtubule binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 116

Predicted to be involved in axoneme assembly; establishment of left/right asymmetry; and flagellated sperm motility. Predicted to act upstream of or within DNA damage response; cellular response to UV-C; and regulation of gene expression. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 114

Enables miRNA binding activity. Involved in maintenance of centrosome location and miRNA processing. Acts upstream of with a positive effect on post-transcriptional regulation of gene expression. Located in kinetochore; mitotic spindle; and spindle pole centrosome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 53 pseudogene

chromosome 20 open reading frame 197

chromosome 1 open reading frame 100

chromosome 1 open reading frame 101

Predicted to be involved in flagellated sperm motility and sperm capacitation. Located in sperm principal piece. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 105

chromosome 1 open reading frame 106

Involved in several processes, including nucleotide-binding activity oligomerization domain containing 2 signaling pathway; positive regulation of cytokine production; and positive regulation of intracellular signal transduction. Located in cytoplasm and nuclear body. Implicated in inflammatory bowel disease 29. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 109

Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 32 pseudogene

chromosome 18 open reading frame 32 pseudogene

chromosome 4 open reading frame 36

chromosome 4 open reading frame 32

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

chromosome 8 open reading frame 33

chromosome 8 open reading frame 31

chromosome 8 open reading frame 37

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

chromosome 8 open reading frame 34

This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]

chromosome 3 open reading frame 67

chromosome 3 open reading frame 62

Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Mar 2025]

X chromosome controlling element

Down syndrome chromosome region

Down syndrome, also known as trisomy 21, is the most frequent form of cognitive disability caused by a microscopically demonstrable chromosomal aberration. It is caused by a third copy (trisomy) of all or a critical portion of chromosome 21. Down syndrome is characterized by physical growth delays, dysmorphic facial features, heart and gastrointestinal disorders, and mild to moderate cognitive disability. [provided by RefSeq, Jul 2017]

Chromosome 15q11.2 deletion syndrome

chromosome 16 open reading frame 46

Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 27 pseudogene

chromosome X open reading frame 49B

Chromosome 1q42-q44 deletion syndrome

chromosome 10 open reading frame 82

Predicted to be involved in flagellated sperm motility. Predicted to be located in several cellular components, including cytoskeleton; motile cilium; and nucleus. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 86 pseudogene 2

chromosome 4 open reading frame 46 pseudogene

chromosome 1 open reading frame 27

Predicted to be involved in protein localization. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

surface antigen (chromosome 7) 2

chromosome 9 open reading frame 92

chromosome 18 open reading frame 32

Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum and lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 34

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 33

chromosome 7 open reading frame 31

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

Chromosome Xq26.3 duplication syndrome

Circulating adiponectin QTL on chromosome 5

chromosome 6 open reading frame 99

Obesity, susceptibility to, on chromosome 10q

Chromosome 16p11.2 deletion syndrome, 220kb

Chromosome 19p13.13 deletion syndrome

Chromosome 4q32.1-q32.2 triplication syndrome

chromosome 3 common eliminated region 1

Chromosome 3q13.31 deletion syndrome

chromosome 19 open reading frame 66

This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2. [provided by RefSeq, Aug 2021]

chromosome 19 open reading frame 60

chromosome 19 open reading frame 68

Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 132

chromosome 6 open reading frame 136

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 56

Chromosome 15q25 deletion syndrome

non-histone chromosome protein 1

chromosome 21 open reading frame 33

This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

chromosome 4 open reading frame 46 pseudogene

chromosome 2 open reading frame 48

chromosome 2 open reading frame 44

Enables kinase binding activity. Involved in protein complex oligomerization. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 47

Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 40

Enables neuropeptide hormone activity. Involved in neuropeptide signaling pathway; positive regulation of hormone secretion; and vasopressin secretion. Located in apical plasma membrane; dense core granule; and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 42

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

Chromosome Xp21 deletion syndrome

chromosome 20 open reading frame 141

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 144

Chromosome 17q12 deletion syndrome

chromosome 9 open reading frame 85 pseudogene

chromosome 8 open reading frame 89

chromosome 8 open reading frame 88

Predicted to enable eukaryotic initiation factor 4E binding activity. Predicted to be involved in negative regulation of translational initiation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 8 open reading frame 82

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

chromosome 8 open reading frame 87

chromosome 8 open reading frame 86

chromosome 14 open reading frame 169

Enables peptidyl-histidine dioxygenase activity and protein demethylase activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of osteoblast differentiation; and protein demethylation. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 166

Enables RNA binding activity; RNA polymerase II complex binding activity; and identical protein binding activity. Involved in negative regulation of protein kinase activity; positive regulation of transcription by RNA polymerase II; and tRNA splicing, via endonucleolytic cleavage and ligation. Located in microtubule cytoskeleton; nucleoplasm; and perinuclear region of cytoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 10

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

chromosome 6 open reading frame 15

Predicted to enable several functions, including collagen V binding activity; fibronectin binding activity; and glycosaminoglycan binding activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in interstitial matrix. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

sperm protein associated with the nucleus on the X chromosome B/F

chromosome 17 open reading frame 99

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mature B cell differentiation involved in immune response; and positive regulation of immunoglobulin production in mucosal tissue. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 98

chromosome 17 open reading frame 97

Predicted to enable molecular condensate scaffold activity. Predicted to be involved in membraneless organelle assembly and protein arginylation. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 96

Predicted to enable chromatin binding activity. Predicted to be involved in neuron fate commitment; regulation of transcription by RNA polymerase II; and stem cell differentiation. Predicted to be located in chromosome and nucleus. Predicted to be part of ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 61

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

chromosome 15 open reading frame 65

Predicted to be involved in axoneme assembly; determination of left/right symmetry; and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 44

Wolf-Hirschhorn syndrome chromosome region

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010]

Chromosome 2q23.1 deletion syndrome

chromosome 22 open reading frame 42

chromosome 22 open reading frame 46

chromosome 1 open reading frame 95

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 94

Prostate cancer aggressiveness quantitative trait locus on chromosome 19

chromosome X open reading frame 21

Involved in positive regulation of toll-like receptor 7 signaling pathway; positive regulation of toll-like receptor 8 signaling pathway; and regulation of lysosomal lumen pH. Located in endolysosome membrane and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 23

Predicted to enable DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion. Predicted to be part of mediator complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 69 pseudogene

chromosome 11 open reading frame 58 pseudogene

chromosome 16 open reading frame 70

Predicted to be involved in Golgi to plasma membrane protein transport. Located in phagophore assembly site. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 71

Predicted to enable dynein complex binding activity. Predicted to be involved in outer dynein arm assembly. Located in dynein axonemal particle. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 72

Enables ubiquitin protein ligase binding activity. Involved in negative regulation of signal transduction by p53 class mediator and regulation of cellular response to stress. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 78

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

chromosome 14 open reading frame 28

Predicted to act upstream of or within with a positive effect on NMDA selective glutamate receptor signaling pathway and cAMP-mediated signaling. Predicted to act upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; memory; and neurogenesis. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 62

Chromosome 16p11.2 duplication syndrome

chromosome 16 open reading frame 72-like

Enables ubiquitin protein ligase binding activity. Involved in protein stabilization. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 16

chromosome 9 open reading frame 172

Predicted to be involved in cell-cell junction organization. Predicted to be located in adherens junction; apical plasma membrane; and cilium. Predicted to be active in apical junction complex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 71

Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to be located in cytoplasm. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 76

Involved in regulation of Golgi organization. Located in Golgi membrane and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 163

chromosome 2 open reading frame 91

Chromosome 8q21.11 deletion syndrome

chromosome 5 open reading frame 28

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 22

chromosome 5 open reading frame 24

chromosome 1 open reading frame 159

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 158

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 2

This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]

chromosome 2 open reading frame 66

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 18

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 14

Predicted to be located in cilium. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 17

Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 172 pseudogene

chromosome 1 open reading frame 233

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 3q29 microdeletion syndrome

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

Chromosome 9p deletion syndrome

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

chromosome 9 open reading frame 62

chromosome 9 open reading frame 66

chromosome 9 open reading frame 64

Predicted to enable hydrolase activity. Involved in nucleoside salvage. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 69

Predicted to enable GTPase activity and molecular adaptor activity. Involved in positive regulation of cell population proliferation and positive regulation of viral process. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 60

chromosome 12 open reading frame 66

Involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in intercellular bridge and lysosome. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 49 pseudogene

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

chromosome 11 open reading frame 98

This gene shares three exons in common with another gene, LBH domain containing 1 (GeneID:79081), but the encoded protein uses a reading frame that is different from that of the LBH domain containing 1 gene. [provided by RefSeq, Nov 2017]

chromosome 11 open reading frame 97

Predicted to be located in ciliary basal body. Predicted to be active in ciliary base. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 96

chromosome 11 open reading frame 95

Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 94

Predicted to enable protein-macromolecule adaptor activity. Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization; maintenance of protein localization in endoplasmic reticulum; and sperm-egg recognition. Predicted to act upstream of or within several processes, including protein modification process; protein stabilization; and spermatid development. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 91

chromosome 1 open reading frame 106 pseudogene

chromosome 6 open reading frame 163

chromosome 6 open reading frame 165

Predicted to be involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 16

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

chromosome 2 open reading frame 15

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 2q32-q33 deletion syndrome

cat eye syndrome chromosome region, candidate 5

Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 65

chromosome 18 open reading frame 63

chromosome 20 open reading frame 173

Predicted to enable beta-galactoside (CMP) alpha-2,3-sialyltransferase activity. Predicted to be involved in ganglioside biosynthetic process via lactosylceramide; protein glycosylation; and sialylation. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 166 pseudogene

chromosome 7 open reading frame 69

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 60

Enables S-adenosyl-L-methionine binding activity. Involved in cellular response to amino acid starvation; cellular response to methionine; and positive regulation of TORC1 signaling. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 61

Involved in spermatid development. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 62

chromosome 7 open reading frame 65

chromosome 7 open reading frame 66

chromosome 18 open reading frame 21 pseudogene

chromosome 7 open reading frame 73 pseudogene

Chromosome 1q41-q42 deletion syndrome

chromosome 6 open reading frame 25

This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2

chromosome 14 open reading frame 166 pseudogene

chromosome 14 open reading frame 93

Enables RNA binding activity. Predicted to act upstream of or within cell differentiation and positive regulation of gene expression. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 32

chromosome 19 open reading frame 35

Predicted to enable protein kinase activity. Involved in regulation of actin cytoskeleton organization and regulation of cell shape. Predicted to be active in actin cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 44

chromosome 21 open reading frame 62

Enables identical protein binding activity. Involved in mitocytosis. Located in extracellular exosome and migrasome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 21 open reading frame 2

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

chromosome 5 open reading frame 13 pseudogene

Williams Beuren syndrome chromosome region 27

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

Williams-Beuren syndrome chromosome region 28

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 22 open reading frame 15

Chromosome 17q23.1-q23.2 duplication syndrome

chromosome 8 open reading frame 58

chromosome 8 open reading frame 59

Involved in ribosome biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 107

chromosome 10 open reading frame 126

chromosome 10 open reading frame 120

chromosome 10 open reading frame 128

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 27A

chromosome 2 open reading frame 27B

chromosome 21 open reading frame 58

Chromosome 6q25-q25 deletion syndrome

chromosome 2 open reading frame 27B pseudogene

chromosome 16 open reading frame 47

chromosome 3 open reading frame 70

Predicted to be involved in circadian behavior and nervous system development. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 68

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 65

Predicted to be involved in negative regulation of mitochondrial fission and negative regulation of protein targeting to mitochondrion. Predicted to be located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 63

Predicted to be involved in axoneme assembly and brain development. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; motile cilium assembly; and regulation of establishment of planar polarity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 25

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 99

Enables chemokine activity. Involved in several processes, including defense response to other organism; mast cell degranulation; and negative regulation of cell cycle G1/S phase transition. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 27B pseudogene

Chromosome 8p11 myeloproliferative syndrome

chromosome 9 open reading frame 131

chromosome 9 open reading frame 135

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 139

chromosome 5 open reading frame 17

chromosome 5 open reading frame 15

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 127

Predicted to act upstream of or within determination of left/right symmetry and heart development. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 122

chromosome 1 open reading frame 123

Enables zinc ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 51

chromosome 3 open reading frame 49

chromosome 17 open reading frame 112

chromosome 12 open reading frame 65

This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

chromosome 9 open reading frame 50

chromosome 9 open reading frame 57

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 21 pseudogene

chromosome 20 open reading frame 196

Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 195

chromosome 19 open reading frame 84

Predicted to be involved in transposable element silencing by piRNA-mediated DNA methylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 80

Predicted to enable hormone activity. Involved in regulation of lipid metabolic process and triglyceride homeostasis. Acts upstream of or within positive regulation of protein processing and regulation of lipoprotein metabolic process. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 81

chromosome 14 open reading frame 37

Predicted to enable TORC2 complex binding activity. Involved in regulation of inflammatory response. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 67 pseudogene

chromosome 11 open reading frame 73 pseudogene

chromosome 1 open reading frame 43

Involved in phagocytosis. Located in Golgi apparatus; cytosol; and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 57

chromosome 18 open reading frame 54

Predicted to act upstream of or within negative regulation of cell population proliferation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 58 pseudogene

chromosome 7 open reading frame 13

chromosome 4 open reading frame 33

chromosome 12 open reading frame 10

Enables 3'-5'-RNA exonuclease activity. Involved in mRNA processing; mitochondrial RNA metabolic process; and rRNA processing. Located in mitochondrion and nucleus. Is active in mitochondrial matrix; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 41

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

cat eye syndrome chromosome region, candidate 6

Chromosome Xq28 microdeletion syndrome

chromosome 9 open reading frame 78 pseudogene

chromosome 2 open reading frame 69 pseudogene

regulator of chromosome condensation 1

Enables several functions, including guanyl-nucleotide exchange factor activity; nucleosomal DNA binding activity; and protein heterodimerization activity. Involved in G1/S transition of mitotic cell cycle; regulation of mitotic nuclear division; and spindle organization. Located in chromatin; cytoplasm; and nuclear lumen. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

regulator of chromosome condensation 2

The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]

Asthma and obesity susceptibility, chromosome 16p11 inversion related

chromosome 17 open reading frame 104

Predicted to be involved in several processes, including germ cell development; germline cell cycle switching, mitotic to meiotic cell cycle; and meiosis I. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 105

Predicted to be involved in sperm axoneme assembly. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 102

chromosome 17 open reading frame 100

chromosome 21 open reading frame 59

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

chromosome 10 open reading frame 90

Predicted to enable histone deacetylase binding activity; microtubule binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including protein stabilization; regulation of cell cycle process; and response to ionizing radiation. Located in cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 91

chromosome 10 open reading frame 95

chromosome 9 open reading frame 86 pseudogene 1

chromosome 22 open reading frame 29

Involved in mitochondrial outer membrane permeabilization and regulation of mitochondrial membrane potential. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 22 open reading frame 23

chromosome 22 open reading frame 24

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 2q31.1 duplication syndrome

chromosome X open reading frame 49

chromosome 17 open reading frame 98 pseudogene

chromosome 2 open reading frame 27B pseudogene

chromosome 6 open reading frame 1

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 7

chromosome 14 open reading frame 105

Predicted to be involved in energy homeostasis. Predicted to be part of cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 22q11.2 deletion syndrome, distal

chromosome 5 open reading frame 60 pseudogene

Chromosome 13q14 deletion syndrome

chromosome 1 open reading frame 204

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 16p13.3 duplication syndrome

chromosome 20 open reading frame 85

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

Chromosome 6pter deletion syndrome

chromosome 6 open reading frame 201

chromosome 17 open reading frame 70

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

chromosome 17 open reading frame 77

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 75

Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle; cytosol; and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 74

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 78

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

synovial sarcoma translocation gene on chromosome 18-like 2

Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]

synovial sarcoma translocation gene on chromosome 18-like 1

This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

chromosome 10 open reading frame 10

The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]

chromosome 10 open reading frame 11

This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

chromosome 10 open reading frame 12

chromosome 8 open reading frame 49

Chromosome Xq28 duplication syndrome

chromosome 9 open reading frame 106

chromosome 5 open reading frame 49

Predicted to be involved in flagellated sperm motility. Located in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 45

Enables chromatin binding activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; regulation of double-strand break repair; and response to ionizing radiation. Located in Mre11 complex and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 46

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

chromosome 5 open reading frame 47

chromosome 5 open reading frame 42

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

chromosome alignment-maintaining phosphoprotein 1-like

Chromosome 2p12-p11.2 deletion syndrome

chromosome 8 open reading frame 22

Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 29

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

chromosome 4 open reading frame 22

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 27

Enables chromatin binding activity; histone binding activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in DNA repair-dependent chromatin remodeling and double-strand break repair. Located in chromatin and nucleus. Is active in site of DNA damage. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 26

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]

DiGeorge syndrome chromosome region

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

chromosome 14 open reading frame 180

Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 172 pseudogene

Angelman syndrome chromosome region

Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]

Chromosome 2q31.2 deletion syndrome

chromosome 16 open reading frame 45

Predicted to be involved in negative regulation of microtubule depolymerization. Predicted to act upstream of or within negative regulation of cell motility involved in cerebral cortex radial glia guided migration. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 16 pseudogene

chromosome 16 open reading frame 58

This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]

chromosome 16 open reading frame 59

Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 52

Predicted to be involved in negative regulation of smoothened signaling pathway; regulation of neuron differentiation; and regulation of protein stability. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic limb morphogenesis; and smoothened signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in Golgi apparatus and ciliary membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 54

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 16p12.2-p11.2 deletion syndrome

chromosome 2 open reading frame 82

Predicted to be involved in cartilage development. Predicted to be located in several cellular components, including collagen-containing extracellular matrix; cytoplasm; and extracellular region. Predicted to be active in cell periphery. [provided by Alliance of Genome Resources, Mar 2025]

CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)

This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]

chromosome 11 open reading frame 31

This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]

Chromosome 2p16.1-p15 deletion syndrome

Williams-Beuren syndrome chromosome region 17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

chromosome 5 open reading frame 34

chromosome 1 open reading frame 147

chromosome 6 open reading frame 35 pseudogene

chromosome 2 open reading frame 69 pseudogene

Chromosome 6q11-q14 deletion syndrome

chromosome 6 open reading frame 183

chromosome 11 open reading frame 1

Predicted to be involved in flagellated sperm motility. Located in axoneme and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12

Predicted to be located in cytoplasmic vesicle and outer dense fiber. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 174

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

chromosome 1 open reading frame 177

chromosome 1 open reading frame 35

Enables RNA binding activity. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 22q11.2 microduplication syndrome

chromosome 5 open reading frame 60 pseudogene

chromosome 4 open reading frame 46 pseudogene

chromosome 9 open reading frame 89

Predicted to enable CARD domain binding activity. Predicted to be involved in negative regulation of canonical NF-kappaB signal transduction. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 84

Enables ATP hydrolysis activity and single-stranded DNA binding activity. Predicted to be involved in resolution of meiotic recombination intermediates and synaptonemal complex assembly. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. Implicated in spermatogenic failure 75. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 85

chromosome 1 open reading frame 68

Predicted to be involved in epidermis development. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 89

Involved in several processes, including chromatin remodeling; epithelial cell proliferation; and wound healing. Located in several cellular components, including Golgi membrane; midbody; and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 49

Involved in positive regulation of SREBP signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 40

Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in meiotic cell cycle. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 43

Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 42

chromosome 12 open reading frame 45

Enables box C/D methylation guide snoRNP complex binding activity. Involved in box C/D snoRNP assembly. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 49 pseudogene

chromosome 19 open reading frame 53

chromosome 19 open reading frame 52

Enables protein transporter activity. Involved in protein insertion into mitochondrial inner membrane. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of TIM22 mitochondrial import inner membrane insertion complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 57

Predicted to enable damaged DNA binding activity. Predicted to be involved in meiosis I; protein localization to site of double-strand break; and spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 54

Enables cysteine-type aminopeptidase activity and initiator methionyl aminopeptidase activity. Involved in protein processing. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 106

This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]

Chromosome 7q11.23 duplication syndrome

chromosome 20 open reading frame 194

This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]

chromosome 19 open reading frame 71

Predicted to be involved in flagellated sperm motility. Predicted to be located in axonemal microtubule. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 70

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 71

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

chromosome 2 open reading frame 73

chromosome 2 open reading frame 76

chromosome 2 open reading frame 78

chromosome 6 open reading frame 120

This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

chromosome 21 open reading frame 140

chromosome 7 open reading frame 49

Predicted to enable molecular adaptor activity. Involved in double-strand break repair via nonhomologous end joining and negative regulation of double-strand break repair via nonhomologous end joining. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 159

Predicted to enable D-glutamate cyclase activity. Predicted to be involved in glutamate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1

Chromosome 16p13.3 deletion syndrome

chromosome 6 open reading frame 58 pseudogene

chromosome 17 open reading frame 89

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 82

chromosome 17 open reading frame 80

Predicted to be involved in cell population proliferation; mitochondrial DNA metabolic process; and positive regulation of mitochondrial DNA replication. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 85

Enables RNA 7-methylguanosine cap binding activity and mRNA binding activity. Involved in defense response to virus; mRNA export from nucleus; and snRNA export from nucleus. Located in cytoplasm and nuclear speck. Part of nuclear cap binding activity complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 59

Predicted to be involved in inhibitory postsynaptic potential. Predicted to be located in synapse. Predicted to be active in GABA-ergic synapse and postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 57

Involved in head development and regulation of clathrin-dependent endocytosis. Part of clathrin-coated pit. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 56

chromosome 15 open reading frame 54

chromosome 15 open reading frame 53

chromosome 15 open reading frame 52

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

Tumor suppressor gene on chromosome 11

Chromosome 17q23.1-q23.2 deletion syndrome

Chromosome 1p32-p31 deletion syndrome

chromosome 8 open reading frame 76

chromosome 8 open reading frame 74

chromosome 16 open reading frame 86

chromosome 10 open reading frame 142

Chromosome Xq27.3-q28 duplication syndrome

Chromosome 14q11-q22 deletion syndrome

chromosome 8 open reading frame 4

This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011]

chromosome 2 open reading frame 27B pseudogene

alveolar soft part sarcoma chromosome region, candidate 1

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

chromosome 14 open reading frame 39

Involved in homologous chromosome pairing at meiosis. Predicted to be located in chromosome. Predicted to be active in central element. Implicated in primary ovarian insufficiency 18 and spermatogenic failure 52. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 29 pseudogene

Chromosome 17p13.3 duplication syndrome

chromosome 2 open reading frame 27A pseudogene

chromosome 1 open reading frame 21

chromosome 12 open reading frame 73

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 12 open reading frame 76

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 203

Enables ribosomal large subunit binding activity and tRNA binding activity. Involved in regulation of mitochondrial transcription and rescue of stalled ribosome. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 27A pseudogene

Smith-Magenis syndrome chromosome region, candidate 8

Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025]

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

chromosome 9 open reading frame 156

Enables tRNA (L-threonylcarbamoyladenosine(37)-C2) methyltransferase activity. Involved in tRNA methylation. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 40 pseudogene

chromosome 9 open reading frame 153

chromosome 9 open reading frame 152

chromosome 14 open reading frame 2 pseudogene

chromosome 2 open reading frame 80

chromosome 2 open reading frame 88

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 38

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 30

This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]

chromosome 1 open reading frame 145

chromosome 1 open reading frame 146

Predicted to be involved in reciprocal meiotic recombination and synaptonemal complex assembly. Predicted to be active in chromosome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 141

chromosome 1 open reading frame 143

chromosome 3 open reading frame 22

chromosome X open reading frame 51B

chromosome X open reading frame 51A

regulator of chromosome condensation 2 pseudogene 1

regulator of chromosome condensation 2 pseudogene 2

regulator of chromosome condensation 2 pseudogene 3

regulator of chromosome condensation 2 pseudogene 4

regulator of chromosome condensation 2 pseudogene 5

regulator of chromosome condensation 2 pseudogene 6

regulator of chromosome condensation 2 pseudogene 7

regulator of chromosome condensation 2 pseudogene 8

chromosome 9 open reading frame 72

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]

chromosome 16 open reading frame 89

This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

chromosome 16 open reading frame 82

chromosome 11 open reading frame 88

Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 87

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CSE1 chromosome segregation 1-like (yeast)

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

chromosome 3 open reading frame 79

chromosome 12 open reading frame 71

chromosome 12 open reading frame 74

chromosome 12 open reading frame 75

chromosome 12 open reading frame 77

chromosome 12 open reading frame 79

chromosome 11 open reading frame 84

Involved in DNA damage response and negative regulation of DNA-templated transcription. Is active in nucleus and site of DNA damage. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 85

Predicted to enable DNA binding activity. Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 86

chromosome 11 open reading frame 80

Predicted to be involved in meiotic DNA double-strand break formation and reciprocal meiotic recombination. Predicted to be located in chromosome. Implicated in gestational trophoblastic neoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 72

chromosome 19 open reading frame 33

The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

chromosome 19 open reading frame 38

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 67

Predicted to act upstream of or within in utero embryonic development. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 61

Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 64

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome Xp11.3 deletion syndrome

chromosome 7 open reading frame 73

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 72

Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 71

chromosome 10 open reading frame 55

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity orphans on chromosome 15

CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)

This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]

Circulating adiponectin QTL on chromosome 14

chromosome 6 open reading frame 52

Predicted to enable tRNA binding activity. Predicted to be involved in selenocysteine incorporation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 58

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

Chromosome 17q12 duplication syndrome

chromosome 9 open reading frame 78 pseudogene

chromosome 15 open reading frame 26

Predicted to be involved in cilium assembly and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 15 open reading frame 27

Enables protein homodimerization activity. Predicted to be involved in transmembrane transport. Located in cytosol; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 26

Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in growth cone and secretory granule. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 24

Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 25

chromosome 20 open reading frame 27 pseudogene

chromosome 6 open reading frame 203 pseudogene

synovial sarcoma translocation, chromosome 18

Enables nuclear receptor coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of SWI/SNF complex. Implicated in synovial sarcoma. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 198

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

chromosome 1 open reading frame 196

chromosome 1 open reading frame 195

chromosome 1 open reading frame 194

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 65

Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 67

Enables histone methyltransferase inhibitor activity. Involved in epigenetic regulation of gene expression. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 66

The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009]

chromosome 8 open reading frame 48

chromosome 8 open reading frame 46

Predicted to be involved in neuron differentiation. Predicted to be located in nucleus and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 8 open reading frame 44

chromosome 10 open reading frame 113

chromosome 10 open reading frame 111

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 226

chromosome 1 open reading frame 228

chromosome 5 open reading frame 63 pseudogene

chromosome 18 open reading frame 25 pseudogene

chromosome 9 open reading frame 3

This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

chromosome 9 open reading frame 9

Enables microtubule binding activity. Involved in axoneme assembly. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 59

Enables identical protein binding activity. Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 58

Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 51

chromosome 17 open reading frame 53

Predicted to enable single-stranded DNA binding activity. Involved in DNA synthesis involved in DNA repair and interstrand cross-link repair. Located in site of DNA damage. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 58

chromosome 11 open reading frame 53

Enables sequence-specific DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 52

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

chromosome 11 open reading frame 57

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 54

Enables hydrolase activity, acting on ester bonds and zinc ion binding activity. Located in nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

Williams Beuren syndrome chromosome region 22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

chromosome 10 open reading frame 35

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 32

Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 132

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3q29 microduplication syndrome

chromosome 9 open reading frame 129

Chromosome Xp11.23-p11.22 duplication syndrome

chromosome 20 open reading frame 187

chromosome 20 open reading frame 181

chromosome 5 open reading frame 66

chromosome 5 open reading frame 67

chromosome 5 open reading frame 64

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 63

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

chromosome 5 open reading frame 60

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 56 pseudogene

chromosome 1 open reading frame 112

Enables protein kinase binding activity. Involved in several processes, including chromosome segregation; interstrand cross-link repair; and regulation of protein kinase activity. Located in several cellular components, including kinetochore; midbody; and spindle midzone. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 111

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and spermatogenesis. Predicted to be located in membrane and nucleus. Predicted to be active in nuclear membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 110

chromosome 1 open reading frame 116

Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 115

Involved in regulation of response to drug. Located in 9+0 non-motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 47

Located in 9+0 non-motile cilium; centrosome; and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 46

This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

chromosome 4 open reading frame 45

chromosome 4 open reading frame 48

Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in 3'-UTR-mediated mRNA stabilization and spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 58

Involved in several processes, including cardiac muscle cell proliferation; negative regulation of smooth muscle cell apoptotic process; and positive regulation of protein kinase C activity. Located in Golgi membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 52

Located in plasma membrane. Implicated in hypotrichosis 15. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 56

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

Chromosome 18 pericentric inversion

chromosome 11 open reading frame2 pseudogene

Chromosome 18p deletion syndrome

Chromosome 18q deletion syndrome

chromosome 9 open reading frame 24

This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

chromosome 15 open reading frame 43 pseudogene

chromosome 14 open reading frame 2

Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 39

chromosome 14 open reading frame 1

Enables identical protein binding activity. Predicted to be involved in sterol biosynthetic process. Located in transport vesicle. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 30

Predicted to enable identical protein binding activity. Predicted to be involved in DNA repair; chromatin organization; and regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

Schizophrenia susceptibility locus, chromosome 10q-related

chromosome 20 open reading frame 27

Enables protein phosphatase 1 binding activity. Involved in positive regulation of non-canonical NF-kappaB signal transduction and positive regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 24

Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Mar 2025]

chromosome alignment maintaining phosphoprotein 1

This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]

chromosome 14 open reading frame 132

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 32 pseudogene

chromosome 12 open reading frame 49 pseudogene

CPX chromosome region, candidate 1

This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

chromosome 7 open reading frame 77

chromosome 7 open reading frame 76

chromosome 1 open reading frame 53

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

chromosome 1 open reading frame 52

Enables RNA binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 50

Enables identical protein binding activity. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 56

This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogene's promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]

chromosome 1 open reading frame 54

Predicted to act upstream of or within epithelial cell proliferation involved in renal tubule morphogenesis; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to wounding. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 21

chromosome 18 open reading frame 25

Enables transcription corepressor activity. Involved in negative regulation of viral life cycle. Is active in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

Fetal hemoglobin QTL on chromosome 8

Chromosome 15q24 deletion syndrome

chromosome 20 open reading frame 27 pseudogene

Chromosome 16q22 deletion syndrome

chromosome 7 open reading frame 25

chromosome 7 open reading frame 26

Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 203 pseudogene

chromosome 6 open reading frame 62

Chromosome 15q13.3 microdeletion syndrome

chromosome 12 open reading frame 29

Enables RNA ligase (ATP) activity. Involved in response to reactive oxygen species. [provided by Alliance of Genome Resources, Mar 2025]

Chromosome 5q12 deletion sydrome

chromosome 19 open reading frame 70

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 73

chromosome X open reading frame 40A

Involved in regulation of interleukin-6 production. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome X open reading frame 40B

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

Chromosome 1q21.1 duplication syndrome

chromosome 2 open reading frame 50

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

chromosome 2 open reading frame 57

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

chromosome 2 open reading frame 54

chromosome 11 open reading frame 58 pseudogene

Williams-Beuren syndrome chromosome region 2

chromosome 14 open reading frame 177

Predicted to be located in cytoplasm; motile cilium; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 178