| C2orf73 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C2orf73 , chromosome 2 open reading frame 73 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1922337 HomoloGene: 18988 GeneCards: C2orf73 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.
The full gene spans a total of 53,712 base pairs and contains nine exons. The gene's location in the Human genome is on chromosome 2 at position 2p16.2 and is flanked by the genes ACYP2 and SPTBN1. [5] There are no aliases for this gene.
The primary mRNA produced by the C2or73 gene is 1921 nucleotides long. There are six other mRNA isoforms produced by alternative splicing and variation in exon length. [6]
| Isoform | Exons | mRNA Length (bases) |
|---|---|---|
| Primary | 2, 3, 5, 6, 7 | 1921 |
| X1 | 2, 3, 5, 6, 7 (truncated), 8, 9 | 1726 |
| X2 | 2, 3 (truncated), 5, 6, 7 (truncated) | 971 |
| X3 | 2 (truncated), 5, 6, 7 (truncated) | 868 |
| X4 | 4, 5, 6, 7 (truncated) | 951 |
| X5 | 1, 5, 6, 7 (truncated) | 1049 |
| X6 | 2, 3, 5, 7 (truncated) | 1034 |
The protein has a molecular mass of 32,142 daltons. [7] There are four protein isoforms. The primary isoform (X1) is 287 amino acids long. [8]
C2orf73 contains a short sequence motif, GDWWSH (This motif does not yet have any known function). The protein is lysine rich and leucine poor compared to the content of the average Human gene and has a predicted isoelectric point of 9.305. [9]
| Isoform | From mRNA Isoform | Length (Amino Acids) | Molecular Weight (kDa) | Isoelectric Point |
|---|---|---|---|---|
| X1 | Primary, X1 | 287 | 32.1 | 9.305 |
| X2 | X2 | 229 | 25.4 | 9.120 |
| X3 | X3, X4, X5 | 166 | 18.1 | 9.703 |
| X4 | X6 | 143 | 16.7 | 8.790 |
A 3D structure for C2orf73 has not yet been determined experimentally. A computational prediction made by I-TASSER is presented to the right. [10]
The PELE tool on Biology Workbench predicts three likely α-helices and one β-strand in the protein. [14]
The GPS, NetPhos, MyHits and SUMOsp tools on ExPASy [15] predict potential post-translational modifications for the protein. Six potential phosphorylation sites and one sumoylation site are predicted.
PSORT II predicts C2orf73 to be localized to the nucleus. [16] This is supported by the predicted presence of a sumoylation site, which is involved in nuclear cytoplasmic transport. [17]
GEO profiles from NCBI show that C2orf73 is weakly expressed in the following tissues in Humans: bone marrow, liver, heart, lung, brain, spinal cord, skeletal muscle, thymus, and epithelium. [18]
The Genomatix El Dorado tool predicts many transcription factors to have a high binding affinity in the 1100 base pairs upstream of C2orf73. Many of the transcription factors normally regulate processes such as cell development and differentiation, cell death, and the cell cycle. [19]
Three proteins have been experimentally determined to interact with C2orf73 through Yeast Two-Hybrid experiments. [20]
The function of C2orf73 is currently not well understood by the scientific community or anyone else.
There are no paralogs of C2orf73 in the Human genome. Orthologs are found throughout, but are limited to, the phylum Chordata (with a few exceptions in other phyla of the kingdom Animalia, like the Octopus bimaculoides ). [21]
| Species | Common Name | NCBI Accession Number | Sequence Length (AA) | Millions of Years Since LCA [22] | % Identity | % Similarity |
|---|---|---|---|---|---|---|
| Homo sapiens | Human | NP_001093866.1 | 287 | - | - | - |
| Heterocephalus glaber | Naked mole rat | XP_004867342.1 | 235 | 90 | 62.2 | 68.2 |
| Mus musculus | Mouse | NP_001093864.1 | 233 | 90 | 54.9 | 62.8 |
| Fukomys damarensis | Damaraland mole-rat | XP_010614136.2 | 288 | 90 | 75.0 | 83.7 |
| Pteropus vampyrus | Large Flying Fox | XP_011362281.1 | 291 | 96 | 77.7 | 82.8 |
| Eptesicus fuscus | Big Brown Bat | XP_008160678.1 | 321 | 96 | 61.8 | 67.6 |
| Rhinolophus sinicus | Chinese Rufous Horseshoe Bat | XP_019575083.1 | 301 | 96 | 71.4 | 79.4 |
| Erinaceus europaeus | European Hedgehog | XP_007528011.1 | 284 | 96 | 63.8 | 71.4 |
| Condylura cristata | Star nosed mole | XP_012586937.1 | 291 | 96 | 69.8 | 79.0 |
| Camelus ferus | Wild Bactrian camel | XP_006174505.1 | 291 | 96 | 75.6 | 83.2 |
| Capra hircus | Goat | XP_013823176.1 | 285 | 96 | 73.1 | 77.9 |
| Bos taurus | Cattle | NP_001094753.1 | 290 | 96 | 75.5 | 81.0 |
| Panthera pardus | Leopard | XP_019277335.1 | 292 | 96 | 75.0 | 82.2 |
| Ursus maritimus | Polar Bear | XP_008698084.1 | 290 | 96 | 77.3 | 84.5 |
| Falco peregrinus | Peregrine Falcon | XP_013152712.1 | 231 | 312 | 36.2 | 44.6 |
| Apteryx mantelli | North Island Brown Kiwi | XP_013805202.1 | 197 | 312 | 36.9 | 41.9 |
| Python bivittatus | Burmese Python | XP_007425859.1 | 314 | 312 | 30.8 | 45.0 |
| Anolis carolinensis | Carolina anole | XP_003216202.2 | 320 | 312 | 35.3 | 42.7 |
| Xenopus laevis | African Clawed Frog | XP_018118010.1 | 307 | 352 | 36.9 | 52.2 |
| Nanorana parkeri | Frog | XP_018419829.1 | 307 | 352 | 36.4 | 45.8 |
| Callorhinchus milii | Australian Ghostshark | XP_007890694.1 | 293 | 473 | 28.0 | 34.9 |
| Ciona intestinalis | Sea squirt | XP_002125895.1 | 235 | 676 | 22.4 | 34.5 |
| Octopus bimaculoides | California two-spot octopus | XP_014784430.1 | 242 | 797 | 22.4 | 30.0 |
| Saccoglossus kowalevskii | Acorn Worm | XP_002735239.2 | 232 | 684 | 17.9 | 27.9 |
METTL26, previously designated C16orf13, is a protein-coding gene for Methyltransferase Like 26, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known as uncharacterized protein C11orf86, which is predicted to be a nuclear protein. The function of this protein is currently unknown.
TMEM156 is a gene that encodes the transmembrane protein 156 (TMEM156) in Homo sapiens. It has the clone name of FLJ23235.
The coiled-coil domain containing 142 (CCDC142) is a gene which in humans encodes the CCDC142 protein. The CCDC142 gene is located on chromosome 2, spans 4339 base pairs and contains 9 exons. The gene codes for the coiled-coil domain containing protein 142 (CCDC142), whose function is not yet well understood. There are two known isoforms of CCDC142. CCDC142 proteins produced from these transcripts range in size from 743 to 665 amino acids and contain signals suggesting protein movement between the cytosol and nucleus. Homologous CCDC142 genes are found in many animals including vertebrates and invertebrates but not fungus, plants, protists, archea, or bacteria. Although the function of this protein is not well understood, it contains a coiled-coil domain and a RINT1_TIP1 motif located within the coiled-coil domain.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
OCC-1 is a protein, which in humans is encoded by the gene C12orf75. The gene is approximately 40,882 bp long and encodes 63 amino acids. OCC-1 is ubiquitously expressed throughout the human body. OCC-1 has shown to be overexpressed in various colon carcinomas. Novel splice variant of this gene was also detected in various human cancer types; in addition to encoding a novel smaller protein, OCC-1 gene produces a non-protein coding RNA splice variant lncRNA.
Coiled-coil domain containing protein 180 (CCDC180) is a protein that in humans is encoded by the CCDC180 gene. This protein is known to localize to the nucleus and is thought to be involved in regulation of transcription as are many proteins containing coiled-coil domains. As it is expressed most highly in the testes and is regulated by SRY and SOX transcription factors, it could be involved in sex determination.
Glutamate Rich Protein 2 is a protein in humans encoded by the gene ERICH2. This protein is expressed heavily in male tissues specifically in the testes, and proteins are specifically found in the nucleoli fibrillar center and the vesicles of these testicular cells. The protein has multiple protein interactions which indicate that it may play a role in histone modification and proper histone functioning.
BEND2 is a protein that in humans is encoded by the BEND2 gene. It is also found in other vertebrates, including mammals, birds, and reptiles. The expression of BEND2 in Homo sapiens is regulated and occurs at high levels in the skeletal muscle tissue of the male testis and in the bone marrow. The presence of the BEN domains in the BEND2 protein indicates that this protein may be involved in chromatin modification and regulation.
LOC101059915 is a protein, which in humans is encoded by the LOC101059915 gene. It is located on the X chromosome and has restricted expression in the testis.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.
C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
Zinc Finger Protein 548 (ZNF548) is a human protein encoded by the ZNF548 gene which is located on chromosome 19. It is found in the nucleus and is hypothesized to play a role in the regulation of transcription by RNA Polymerase II. It belongs to the Krüppel C2H2-type zinc-finger protein family as it contains many zinc-finger repeats.
Chromosome 5 open reading frame 22 (c5orf22) is a protein-coding gene of poorly characterized function in Homo sapiens. The primary alias is unknown protein family 0489 (UPF0489).
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
