C2orf73
Identifiers
AliasesC2orf73, chromosome 2 open reading frame 73
External IDsMGI: 1922337 HomoloGene: 18988 GeneCards: C2orf73
Orthologs
SpeciesHumanMouse
Entrez

129852

75087

Ensembl

ENSG00000177994

ENSMUSG00000040919

UniProt

Q8N5S3

Q5SPV6

RefSeq (mRNA)

NM_001100396
NM_173486
NM_001369401
NM_001369403

NM_001100394

RefSeq (protein)

NP_001093866
NP_001356330
NP_001356332

NP_001093864

Location (UCSC)Chr 2: 54.33 – 54.38 MbChr 11: 30.38 – 30.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Gene

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.

mRNA

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]

IsoformExonsmRNA Length (bases)
Primary2, 3, 5, 6, 71921
X12, 3, 5, 6, 7 (truncated), 8, 91726
X22, 3 (truncated), 5, 6, 7 (truncated)971
X32 (truncated), 5, 6, 7 (truncated)868
X44, 5, 6, 7 (truncated)951
X51, 5, 6, 7 (truncated)1049
X62, 3, 5, 7 (truncated)1034

Protein

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]

IsoformFrom mRNA IsoformLength (Amino Acids)Molecular Weight (kDa)Isoelectric Point
X1Primary, X128732.19.305
X2X222925.49.120
X3X3, X4, X516618.19.703
X4X614316.78.790

Structure

A 3D structure for C2orf73 has not yet been determined experimentally. A computational prediction made by I-TASSER is presented to the right.[10]

Predicted 3D structure of Human C2orf73 protein generated by I-TASSER.[11][12][13]

The PELE tool on Biology Workbench predicts three likely α-helices and one β-strand in the protein.[14]

Post translational modifications

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.

Subcellular localization

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]

Expression

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]

Regulation of expression

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]

Interacting Proteins

Three proteins have been experimentally determined to interact with C2orf73 through Yeast Two-Hybrid experiments.[20]

  • FCH and Double SH3 Domains 2 (FCHSD2) - Function has not yet been defined
  • Heat Shock Protein Family B Member 1 (HSPB1) - Aids cell's resistance to stress
  • SH3 Domain Binding Protein 4 (SH3BP4) - Involved in endocytosis of specific cell surface receptors

Function

The function of C2orf73 is currently not well understood by the scientific community or anyone else.

Homology

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]

SpeciesCommon NameNCBI Accession NumberSequence Length (AA)Millions of Years Since LCA[22] % Identity % Similarity
Homo sapiensHumanNP_001093866.1287---
Heterocephalus glaberNaked mole ratXP_004867342.12359062.268.2
Mus musculusMouseNP_001093864.12339054.962.8
Fukomys damarensisDamaraland mole-ratXP_010614136.22889075.083.7
Pteropus vampyrusLarge Flying FoxXP_011362281.12919677.782.8
Eptesicus fuscusBig Brown BatXP_008160678.13219661.867.6
Rhinolophus sinicusChinese Rufous Horseshoe BatXP_019575083.13019671.479.4
Erinaceus europaeusEuropean HedgehogXP_007528011.12849663.871.4
Condylura cristataStar nosed moleXP_012586937.12919669.879.0
Camelus ferusWild Bactrian camelXP_006174505.12919675.683.2
Capra hircusGoatXP_013823176.12859673.177.9
Bos taurusCattleNP_001094753.12909675.581.0
Panthera pardusLeopardXP_019277335.12929675.082.2
Ursus maritimusPolar BearXP_008698084.12909677.384.5
Falco peregrinusPeregrine FalconXP_013152712.123131236.244.6
Apteryx mantelliNorth Island Brown KiwiXP_013805202.119731236.941.9
Python bivittatusBurmese PythonXP_007425859.131431230.845.0
Anolis carolinensisCarolina anoleXP_003216202.232031235.342.7
Xenopus laevisAfrican Clawed FrogXP_018118010.130735236.952.2
Nanorana parkeriFrogXP_018419829.130735236.445.8
Callorhinchus miliiAustralian GhostsharkXP_007890694.129347328.034.9
Ciona intestinalisSea squirtXP_002125895.123567622.434.5
Octopus bimaculoidesCalifornia two-spot octopusXP_014784430.124279722.430.0
Saccoglossus kowalevskiiAcorn WormXP_002735239.223268417.927.9

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000177994 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040919 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  6. ↑ "C2orf73 chromosome 2 open reading frame 73 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  7. ↑ "C2orf73 Gene - GeneCards | CB073 Protein | CB073 Antibody". www.genecards.org. Retrieved 28 April 2017.
  8. ↑ "C2orf73 chromosome 2 open reading frame 73 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  9. ↑ "SDSC Biology Workbench". workbench.sdsc.edu. Retrieved 28 April 2017.
  10. ↑ "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 28 April 2017.
  11. ↑ Zhang Y (January 2008). "I-TASSER server for protein 3D structure prediction". BMC Bioinformatics. 9 (1): 40. doi:10.1186/1471-2105-9-40. PMC 2245901. PMID 18215316.
  12. ↑ Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y (January 2015). "The I-TASSER Suite: protein structure and function prediction". Nature Methods. 12 (1): 7–8. doi:10.1038/nmeth.3213. PMC 4428668. PMID 25549265.
  13. ↑ Roy A, Kucukural A, Zhang Y (April 2010). "I-TASSER: a unified platform for automated protein structure and function prediction". Nature Protocols. 5 (4): 725–38. doi:10.1038/nprot.2010.5. PMC 2849174. PMID 20360767.
  14. ↑ "SDSC Biology Workbench". workbench.sdsc.edu. Retrieved 28 April 2017.
  15. ↑ "ExPASy: SIB Bioinformatics Resource Portal - Categories". www.expasy.org. Retrieved 28 April 2017.
  16. ↑ "PSORT II Prediction". psort.hgc.jp. Retrieved 28 April 2017.
  17. ↑ Hay RT (April 2005). "SUMO: a history of modification". Molecular Cell. 18 (1): 1–12. doi:10.1016/j.molcel.2005.03.012. PMID 15808504.
  18. ↑ "Home - GEO - NCBI". www.ncbi.nlm.nih.gov. Retrieved 28 April 2017.
  19. ↑ "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Retrieved 28 April 2017.
  20. ↑ "PSICQUIC View". www.ebi.ac.uk. Retrieved 28 April 2017.
  21. ↑ Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (September 1997). "Gapped BLAST and PSI-BLAST: a new generation of protein database search programs". Nucleic Acids Research. 25 (17): 3389–402. doi:10.1093/nar/25.17.3389. PMC 146917. PMID 9254694.
  22. ↑ "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 28 April 2017.
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