Harmonizome 3.0

ets homologous factor

This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

TPTE and PTEN homologous inositol lipid phosphatase pseudogene

signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1

signal recognition particle 14kDa (homologous Alu RNA binding protein)

Enables RNA binding activity. Involved in protein targeting to ER. Located in nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Mar 2025]

PAXX non-homologous end joining factor

The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]

homologous recombination factor with OB-fold

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]

meiotic nuclear divisions 1 homolog (S. cerevisiae) pseudogene

meiotic nuclear divisions 1 homolog (S. cerevisiae)

The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]

required for meiotic nuclear division 1 homolog (S. cerevisiae)

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

SPO11 meiotic protein covalently bound to DSB

Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]

essential meiotic structure-specific endonuclease 1

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

essential meiotic structure-specific endonuclease subunit 2

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

REC8 meiotic recombination protein

This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene

meiotic kinetochore factor

Predicted to be involved in meiotic chromosome segregation and meiotic sister chromatid cohesion. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Mar 2025]

MRE11 meiotic recombination 11 homolog B (pseudogene)

MRE11 meiotic recombination 11 homolog A (S. cerevisiae)

This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene

DNA meiotic recombinase 1

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

REC114 meiotic recombination protein

The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]

required for meiotic nuclear division 5 homolog A (S. cerevisiae)

Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

required for meiotic nuclear division 5 homolog B (S. cerevisiae)

Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

break repair meiotic recombinase recruitment factor 1

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]

TOP6B like initiator of meiotic double strand breaks

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 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]