Harmonizome 3.0

calsequestrin 1 (fast-twitch, skeletal muscle)

This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]

troponin T type 1 (skeletal, slow)

This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GTP binding protein overexpressed in skeletal muscle

The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

myosin, light chain 3, alkali; ventricular, skeletal, slow

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

myosin, light chain 1, alkali; skeletal, fast

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

muscle, skeletal, receptor tyrosine kinase

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

up-regulated during skeletal muscle growth 5 homolog (mouse)

Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Mar 2025]

troponin T type 3 (skeletal, fast)

The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

troponin I type 2 (skeletal, fast)

This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

troponin I type 1 (skeletal, slow)

Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]

myosin light chain, phosphorylatable, fast skeletal muscle

Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Mar 2025]

ryanodine receptor 1 (skeletal)

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

actin, alpha 1, skeletal muscle

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

myosin, heavy chain 13, skeletal muscle

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

mental retardation-skeletal dysplasia

myosin, heavy chain 2, skeletal muscle, adult

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

myosin, heavy chain 3, skeletal muscle, embryonic

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

myosin, heavy chain 1, skeletal muscle, adult

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

myosin, heavy chain 4, skeletal muscle

Enables double-stranded RNA binding activity. Involved in muscle contraction. Located in myofibril. [provided by Alliance of Genome Resources, Mar 2025]

myosin, heavy chain 8, skeletal muscle, perinatal

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

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 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]

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 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]

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 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]

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 6 open reading frame 99

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 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 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 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]

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

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

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]

SNRPN upstream reading frame

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

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 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]

PIGY upstream reading frame

The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012]

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 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 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

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 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 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]

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

chromosome 22 open reading frame 15

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 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 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]

chromosome 9 open reading frame 78 pseudogene

chromosome 2 open reading frame 69 pseudogene

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 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 5 open reading frame 60 pseudogene

chromosome 1 open reading frame 204

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

chromosome 20 open reading frame 85

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

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]

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 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 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]

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

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 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]

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 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 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]

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 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 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]

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]

SNRPN upstream reading frame-like, pseudogene

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

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 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

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 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

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

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]

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 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]

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 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

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]

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 9 open reading frame 129

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

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]

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]

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 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

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]

chromosome 20 open reading frame 27 pseudogene

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 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 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 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

TCR gamma alternate reading frame protein

In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. [provided by RefSeq, Jul 2008]

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

chromosome 16 open reading frame 95

chromosome 3 open reading frame 38 pseudogene

chromosome 2 open reading frame 27A pseudogene 2

chromosome 2 open reading frame 27A pseudogene 3

chromosome 2 open reading frame 27A pseudogene 1

chromosome 1 open reading frame 210

Predicted to be located in early endosome; plasma membrane; and recycling endosome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 216

chromosome 17 open reading frame 62

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 17 open reading frame 64

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

chromosome 17 open reading frame 67

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

chromosome 18 open reading frame 8

This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]

chromosome 5 open reading frame 15 pseudogene

chromosome 17 open reading frame 80 pseudogene

chromosome 5 open reading frame 58

chromosome 5 open reading frame 56

chromosome 5 open reading frame 52

chromosome 5 open reading frame 51

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

chromosome 1 open reading frame 86

Enables K63-linked polyubiquitin modification-dependent protein binding activity and ubiquitin-modified protein reader activity. Involved in interstrand cross-link repair and translesion synthesis. Located in cell junction; chromosome; and nuclear body. Part of Fanconi anaemia nuclear complex and chromatin. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 87

chromosome X open reading frame 36

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

chromosome 8 open reading frame 17

Predicted to be involved in negative regulation of apoptotic process and positive regulation of cell population proliferation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 4 open reading frame 19

chromosome 4 open reading frame 17

chromosome 3 open reading frame 84

chromosome X open reading frame 38

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

chromosome 12 open reading frame 29 pseudogene

chromosome 9 open reading frame 16

Enables molecular adaptor activity. Involved in intermediate filament bundle assembly. Located in cell junction; polymeric cytoskeletal fiber; and subapical part of cell. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 69 pseudogene

chromosome 16 open reading frame 62

Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 20 open reading frame 78

chromosome 3 open reading frame 80

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

chromosome 11 open reading frame 24

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

chromosome 20 open reading frame 196 pseudogene

chromosome 10 open reading frame 67

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

chromosome 10 open reading frame 62

chromosome 6 open reading frame 229

chromosome 6 open reading frame 222

chromosome 6 open reading frame 223

chromosome 6 open reading frame 226

chromosome 9 open reading frame 171

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

chromosome 9 open reading frame 170

chromosome 1 open reading frame 162

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

chromosome 1 open reading frame 167

Implicated in coronary artery disease. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 168

Involved in T cell receptor signaling pathway and cell adhesion mediated by integrin. Located in immunological synapse and membrane raft. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 32 pseudogene

chromosome 2 open reading frame 83

Predicted to enable vitamin transmembrane transporter activity. Predicted to be involved in vitamin transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 18 open reading frame 12

chromosome 4 open reading frame 27 pseudogene

chromosome 9 open reading frame 91

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

chromosome 7 open reading frame 73 pseudogene

chromosome 12 open reading frame 57

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

chromosome 12 open reading frame 54

chromosome 19 open reading frame 40

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

chromosome 19 open reading frame 43

Enables 3'-5' exonuclease activity and 5'-3' exonuclease activity. Involved in rRNA catabolic process. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 19 open reading frame 45

chromosome 19 open reading frame 47

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

chromosome 19 open reading frame 48

chromosome 6 open reading frame 118

chromosome 2 open reading frame 61

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in epigenetic programing of male pronucleus. Predicted to act upstream of or within pyrimidine-containing compound catabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in female pronucleus; germinal vesicle; and male pronucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 69

Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 2 open reading frame 68

chromosome 11 open reading frame 51 pseudogene

chromosome 2 open reading frame 27A pseudogene

chromosome 7 open reading frame 55

Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 7 open reading frame 57

chromosome 7 open reading frame 50

Enables hormone activity. Involved in negative regulation of cholesterol biosynthetic process. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 142

Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 14 open reading frame 144

chromosome 4 open reading frame 46 pseudogene

chromosome 12 open reading frame 10 pseudogene

chromosome 16 open reading frame 70 pseudogene

chromosome 2 open reading frame 27A pseudogene

chromosome 14 open reading frame 80

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 15 open reading frame 48

This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]

chromosome 15 open reading frame 40

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

chromosome 15 open reading frame 43

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 meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 21 open reading frame 91

Predicted to be involved in cerebral cortex neuron differentiation and positive regulation of dendritic spine development. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 8 open reading frame 60

chromosome 4 open reading frame 3 pseudogene

chromosome 4 open reading frame 50

chromosome 10 open reading frame 131

chromosome 4 open reading frame 27 pseudogene

chromosome 10 open reading frame 88 pseudogene

chromosome 15 open reading frame 62

Predicted to enable small GTPase binding activity. Predicted to be involved in Rho protein signal transduction; positive regulation of cellular component biogenesis; and regulation of cell shape. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 13

chromosome 11 open reading frame 21

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

chromosome 4 open reading frame 3

Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 71

chromosome 11 open reading frame 70

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 73

This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]

chromosome 11 open reading frame 74

This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

chromosome 10 open reading frame 54

Enables endopeptidase activator activity; enzyme binding activity; and identical protein binding activity. Involved in several processes, including negative regulation of cytokine production; positive regulation of metabolic process; and regulation of T cell activation. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 10 open reading frame 53

chromosome 9 open reading frame 147

chromosome 9 open reading frame 142

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]

chromosome 1 open reading frame 131

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 134

chromosome 1 open reading frame 137

chromosome 2 open reading frame 27A pseudogene

chromosome 3 open reading frame 30

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

chromosome 3 open reading frame 36

chromosome 3 open reading frame 35

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

chromosome 3 open reading frame 38

Involved in positive regulation of apoptotic process. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 5 open reading frame 13 pseudogene

chromosome 20 open reading frame 203

The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]

chromosome 20 open reading frame 202

chromosome 9 open reading frame 40

chromosome 9 open reading frame 41

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

chromosome 9 open reading frame 43

chromosome 9 open reading frame 47

chromosome 16 open reading frame 96

chromosome 16 open reading frame 97

chromosome 16 open reading frame 93

Predicted to act upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 16 open reading frame 90

chromosome 16 open reading frame 91

Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 11 open reading frame 74 pseudogene

chromosome 12 open reading frame 80

chromosome 6 open reading frame 141

Predicted to act upstream of or within blastocyst hatching. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 74

chromosome 2 open reading frame 72

chromosome 18 open reading frame 42

Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 9 open reading frame 78

Enables U5 snRNA binding activity. Involved in mRNA cis splicing, via spliceosome and regulation of homologous chromosome segregation. Located in chromosome, centromeric region; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 1 open reading frame 220

chromosome 1 open reading frame 229

chromosome 9 open reading frame 173

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

chromosome 6 open reading frame 48

Predicted to enable double-stranded RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 6 open reading frame 47

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

ASNSD1 upstream open reading frame

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

PIK3R3 upstream open reading frame

Predicted to be involved in cytokine-mediated signaling pathway. [provided by Alliance of Genome Resources, Mar 2025]

POLG alternative reading frame

This gene uses the same transcript as the POLG gene but has a CUG start codon and an alternate reading frame that makes a 260 aa protein. This protein is distinct from POLG isoforms and may interact with P32 (also known as C1QBP), a mitochondrial matrix protein thought to be involved in the expression of mitochondrial genome-encoded proteins. POLGARF protein may bind P32 and sequester it in the nucleolus. Interestingly, some disease-causing mutations thought to be in POLG may instead be associated with POLGARF. [provided by RefSeq, May 2022]

chromosome 13 open reading frame 42

chromosome 2 open reading frame 92

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

chromosome 20 open reading frame 204

chromosome 10 open reading frame 143

chromosome 1 open reading frame 202

chromosome 17 open reading frame 113

chromosome 19 open reading frame 85

chromosome 4 open reading frame 54

chromosome 8 open reading frame 90

chromosome 1 open reading frame 230

chromosome 17 open reading frame 114

HR upstream open reading frame

Predicted to be involved in regulation of translation. Implicated in hypotrichosis 4. [provided by Alliance of Genome Resources, Mar 2025]

chromosome 3 open reading frame 85

mitochondrial elongation factor 1 upstream open reading frame

This gene represents an upstream open reading frame located in the transcripts of mitochondrial elongation factor 1 (GeneID:) gene. The open reading frame shows a strong signature of protein-coding regions in PhyloCSF and translation of the 70aa protein is supported by peptide and ribosome profiling data. [provided by RefSeq, Dec 2022]

chromosome 7 open reading frame 78

solute carrier family 4 member 2 upstream open reading frame

ankyrin repeat domain 11 upstream open reading frame

chromosome X open reading frame 49C