Biology:C2orf72

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Short description: Human protein encoding gene

File:Ideogram human chromosome 2.svg

C2orf72 (Chromosome 2, Open Reading Frame 72) is a gene in humans (Homo sapiens) that encodes a protein currently named after its gene name, C2orf72.[1]

This gene is primarily expressed in the liver, brain, placental, and small intestine tissues.[2] C2orf72 is an intracellular protein that has been predicted to reside within the nucleus, cytosol, and plasma membrane of cells.[1] The exact function of C2orf72 is unknown, but it is predicted to be involved in very-low-density lipoprotein particle assembly and also involved in the regulation of cholesterol esterification.[3] This prediction also matches with the fact that both estradiol[4] and testosterone[5] have been reported to upregulate expression of C2orf72.[6]

2q37.1

Gene

Locus

C2orf72 is a protein-encoding gene found on the forward (+) strand of chromosome 2 at the locus 2q37.1. C2orf72 is located on the long arm of chromosome 2.[1]

Common Aliases for C2orf72 Listed Below

Chromosome 2 Open Reading Frame 72

Uncharacterized Protein C2orf72

LOC257407

A6NCS6 (UniProt Accession ID)[7]

The aliases information of C2orf72 came from the GeneCards website, and the GeneCards website keeps a record of previous GeneCard ID codes that it had for C2orf72, such as GC02P231611.[1]

mRNA of C2orf72

General Overview

The mRNA transcript for C2orf72 is about 3,629 bp long.[8]

The mRNA transcript of C2orf72 also appears to have two poly-A sites near the 5′-end of the mRNA transcript, each preceded by their respective regulatory sequences such as ATTAAA or AATAAA.[8]

Number of Exons

Currently, it appears that there are mainly three exons reported for the human C2orf72, as seen in NCBI's database (NM_001144994.2).[8]

Expression Pattern

According to the RNA-Seq data available on NCBI regarding C2orf72, it appears that C2orf72 is preferentially expressed in brain, liver, placental, colon, small intestine, gallbladder, stomach, and prostate tissues, and to a relatively smaller extent in the adrenal, appendix, pancreas, lung, kidney, testis, and urinary bladder tissues.[2]

Regulation of C2orf72

Gene Level Regulation: C2orf72

Gene Perturbation Data Regarding C2orf72

According to the Harmonizome database, it appears that in a study of embryonic liver samples lacking hepatocyte nuclear factor 4 alpha (HNF4alpha), the expression of C2orf72 was downregulated.[9]

From the Harmonizome database as well, it was reported that both estradiol[4] and testosterone[5] upregulates expression of C2orf72.[6]

Expression Pattern of C2orf72

The Human Protein Atlas reports that the C2orf72 mRNA and protein products seem to be found preferentially in the liver, kidney, and placenta.[10]

Also from The Human Protein Atlas, the website reports that C2orf72 seems to be localized to mainly in the membranous and cytoplasmic regions in liver, brain, and placental tissues.[10]

Transcript Level Regulation: C2orf72

MicroRNA Information Regarding C2orf72

Both TargetScan[11] and miRDB[12] predict that has-miR-1271-5p is a potential microRNA that could bind to the 3′-UTR region of the C2orf72 mRNA transcript at 5′-...GUGCCAA...-3′.[8]

Protein Level Regulation: C2orf72

Predicted Phosphorylation Sites for the Human C2orf72 Protein

The iPTMnet website suggests that there appears to be at least two phosphorylation sites for the human C2orf72 protein, one a threonine-286, and the other at serine-294.[7]

Protein

Protein: C2orf72

Predicted Molecular Weight and pI of C2orf72

  • The predicted molecular weight of human C2orf72 is 30.5 kDa,[13] and it has a predicted pI of 8.7 according to Expasy's computational tool.[14]

The amino acid composition and general observations of the human C2orf72 protein sequence data that is currently available is described in the following:

  1. There appear to be eight cysteine residues, for a potential of four disulfide bonds.[15]
  2. A general observation here is that most of the cysteine residues are positioned next to a polar amino acid (uncharged or positively/negatively charged).[15]
  3. There appear to be 33 positively charged amino acid residues if you include histidine — also note that most of the positively charged residues in C2orf72 were arginine residues.[15]
  4. Likewise, it appears that there are 33 negatively charged amino acid residues, most of which seem to be glutamic acid residues (or glutamate depending on protonation state) residues.[15]
  5. As for the number of amino acid residues with a hydroxyl group in their side chain (tyrosine, threonine, and serine) which are known to be typical phosphorylation sites, there appear to be 14 residues of that kind (tyrosine, threonine or serine), most of which were serines according to the human C2orf72 protein sequence data currently available.[15]

Interacting Proteins

Protein Interactions: C2orf72

HitPredict Search Results for Human C2orf72 Protein-Protein Interactions

According to HitPredict's search results for protein-protein interactions for the human C2orf72 protein, these proteins have been reported to interact with C2orf72: RASN (GTPase NRas),[16] RASK (GTPase KRas),[16] and CD81 (CD81 antigen).[17][18]

Homology

Orthologs

According to the NCBI Orthologs page for C2orf72, there are at least 203 organisms with an ortholog of C2orf72.[19] The farthest back reported ortholog of C2orf72 is in the Australian ghostshark (Callorhincus milii) according to NCBI Gene search results.[20]

Table 1. Examples of Species Reported to Have C2orf72 Homologs
Genus and Species Common Name Taxonomic

Group

(Order)

Date of Divergence

(MYA)

Accession

Number

Sequence

Length

Sequence

 Identity

Sequence

Similarity

Pan troglodytes Chimpanzee Primates 6.7 XP_516141.5 295 98.6 98.6
Pongo abelii Sumatran orangutan Primates 15.76 XP_024099683.1 295 95.3 96.9
Castor canadensis American beaver Rodentia 90 XP_020011841.1 282 77.6 82.4
Oryx dammah Scimitar-horned oryx Artiodactyla 96 XP_040084064.1 285 74.6 79.3
Sus scrofa Wild boar Artiodactyla 96 XP_005657646.1 282 75.3 80.7
Tursiops truncatus Common bottlenose dolphin Cetacea 96 XP_033715450.1 285 76.9 80.7
Felis catus Domestic cat Carnivora 96 XP_023115562.1 286 80.1 83.1
Eptesicus fuscus Big brown bat Chiroptera 96 XP_027993078.1 151 36.1 38.9
Corapipo altera White-ruffed manakin Passeriformes 312 XP_027503457.1 181 26.7 34
Pipra filicauda Wire-tailed manakin Passeriformes 312 XP_027606890.1 243 34.7 45.2
Taeniopygia guttata Zebra finch Passeriformes 312 XP_030136117.3 255 35.1 45.4
Corvus cornix cornix Hooded crow Passeriformes 312 XP_039412719.1 245 36 45.3
Hirundo rustica Barn swallow Passeriformes 312 XP_039930397.1 243 37 46.7
Anas platyrhynchos Mallard Anseriformes 312 XP_038039556.1 251 36.3 46.7
Aythya fuligula Tufted duck Anseriformes 312 XP_032049188 251 36.3 46.7
Protobothrops mucrosquamatus Brown-spotted pit viper Squamata 312 XP_029139335.1 278 22.9 34.5
Python bivittatus Burmese python Squamata 312 XP_025023716.1 279 23.3 35.9
Pogona vitticeps Central bearded dragon Squamata 312 XP_020657305.1 295 24.1 34
Gopherus evgoodei Goode's thornscrub tortoise Testudines 312 XP_030431493.1 481 24.2 31.1
Pseudonaja textilis Eastern brown snake Squamata 312 XP_026577460.1 272 31.6 41
Pantherophis guttatus Corn snake Squamata 312 XP_034263860.1 252 33 42.5
Terrapene carolina

triunguis

Three-toed box turtle Testudines 312 XP_029766982.1 262 35.1 43.2
Chrysemys picta bellii Painted turtle Testudines 312 XP_023966073.1 306 36.6 47.4
Zootoca vivipara Common lizard Squamata 312 XP_034989711.1 285 37.9 48.6
Lacerta agilis Sand lizard Squamata 312 XP_033004091.1 289 38 49.5
Dermochelys coriacea Leatherback sea

 turtle

Testudines 312 XP_038272534.1 271 38.1 48.1
Podarcis muralis Common wall lizard Squamata 312 XP_028587763.1 272 38.7 50.8
Mauremys reevesii Reeves' turtle Testudines 312 XP_039344659.1 277 39.5 51.4
Nanorana parkeri High Himalaya frog Anura 351.8 XP_018432004.1 304 27.3 40.1
Rhinatrema bivittatum Two-lined caecilian Gymnophiona 351.8 XP_029473197.1 358 30.3 36.1
Xenopus tropicalis Tropical clawed frog Anura 351.8 XP_002937397.3 289 30.7 42.4
Geotrypetes seraphini Gaboon caecilian Gymnophiona 351.8 XP_033814148.1 233 33.9 44.2
Parambassis ranga Indian glass fish Perciformes 435 XP_028260036.1 334 19.7 34.5
Cyprinodon tularosa White sands pupfish Cyprinodontiformes 435 XP_038147473.1 296 20.1 33.1
Esox lucius Northern pike Esociformes 435 XP_012990404.1 332 20.6 33.1
Acanthochromis polyacanthus Spiny chromis Perciformes 435 XP_022050415.1 317 21.8 35.6
Thunnus maccoyii Southern bluefin tuna Scombriformes 435 XP_042273029.1 329 20.2 34
Acanthopagrus latus Yellowfin seabream Spariformes 435 XP_036971960.1 309 22 35.5
Syngnathus acus Greater pipefish Syngnathiformes 435 XP_037106050.1 274 19.5 34.9
Callorhinchus milii Australian ghostshark Chimaeriformes 473 XP_007887618.1 413 17.6 26.5

Table 1 here proivdes an overview of the ortholog space for c2orf72. The main idea here is that c2orf72 seems to be conserved at least for sure in Actinopterygii (bony fish) and onwards to Mammalia.

Note that there was only one cartilaginous fish reported here for now, which was the Australian ghostshark, as of August 2021.[21][22]

References

  1. ↑ 1.0 1.1 1.2 1.3 "C2orf72 GeneCards". https://www.genecards.org/cgi-bin/carddisp.pl?gene=C2orf72. 
  2. ↑ 2.0 2.1 "C2orf72 chromosome 2 open reading frame 72 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/257407. 
  3. ↑ "ARCHS4". https://maayanlab.cloud/archs4/gene/C2ORF72. 
  4. ↑ 4.0 4.1 "Gene Set - estradiol_homo sapiens_gpl570_gds3283". https://maayanlab.cloud/Harmonizome/gene_set/estradiol_homo+sapiens_gpl570_gds3283/GEO+Signatures+of+Differentially+Expressed+Genes+for+Small+Molecules. 
  5. ↑ 5.0 5.1 "Gene Set - testosterone_mus musculus_gpl1261_gse17553". https://maayanlab.cloud/Harmonizome/gene_set/testosterone_mus+musculus_gpl1261_gse17553/GEO+Signatures+of+Differentially+Expressed+Genes+for+Small+Molecules. 
  6. ↑ 6.0 6.1 "Gene - C2ORF72". https://maayanlab.cloud/Harmonizome/gene/C2ORF72. 
  7. ↑ 7.0 7.1 "iPTMnet Report A6NCS6 C2orf72". https://research.bioinformatics.udel.edu/iptmnet/entry/A6NCS6/. 
  8. ↑ 8.0 8.1 8.2 8.3 "Homo sapiens chromosome 2 open reading frame 72 (C2orf72), mRNA" (in en-US). Nature. 2020-12-12. http://www.ncbi.nlm.nih.gov/nuccore/NM_001144994.2. 
  9. ↑ "Gene Set - hnf4a_16714383_e18dot5_liver_lof_mouse_gpl1261_gds1916". https://maayanlab.cloud/Harmonizome/gene_set/hnf4a_16714383_e18dot5_liver_lof_mouse_gpl1261_gds1916/GEO+Signatures+of+Differentially+Expressed+Genes+for+Transcription+Factor+Perturbations. 
  10. ↑ 10.0 10.1 "Tissue expression of C2orf72 - Summary - The Human Protein Atlas". https://www.proteinatlas.org/ENSG00000204128-C2orf72/tissue. 
  11. ↑ "TargetScanHuman 7.2". http://www.targetscan.org/vert_72/. 
  12. ↑ "miRDB - MicroRNA Target Prediction Database". http://mirdb.org/mirdb/index.html. 
  13. ↑ "C2orf72 protein expression summary - The Human Protein Atlas". https://www.proteinatlas.org/ENSG00000204128-C2orf72#gene_information. 
  14. ↑ "Compute pI/MW - SIB Swiss Institute of Bioinformatics | Expasy". https://www.expasy.org/resources/compute-pi-mw. 
  15. ↑ 15.0 15.1 15.2 15.3 15.4 "uncharacterized protein C2orf72 [Homo sapiens - Protein - NCBI"]. https://www.ncbi.nlm.nih.gov/protein/NP_001138466.1?report=fasta. 
  16. ↑ 16.0 16.1 Kovalski, Joanna R.; Bhaduri, Aparna; Zehnder, Ashley M.; Neela, Poornima H.; Che, Yonglu; Wozniak, Glenn G.; Khavari, Paul A. (2019-02-21). "The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2". Molecular Cell 73 (4): 830–844.e12. doi:10.1016/j.molcel.2018.12.001. ISSN 1097-4164. PMID 30639242. 
  17. ↑ Bruening, Janina; Lasswitz, Lisa; Banse, Pia; Kahl, Sina; Marinach, Carine; Vondran, Florian W.; Kaderali, Lars; Silvie, Olivier et al. (July 2018). "Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB". PLOS Pathogens 14 (7): e1007111. doi:10.1371/journal.ppat.1007111. ISSN 1553-7374. PMID 30024968. 
  18. ↑ "HitPredict - High confidence protein-protein interactions". http://www.hitpredict.org/htp_int.php?Value=9676. 
  19. ↑ "C2orf72 orthologs" (in en). https://www.ncbi.nlm.nih.gov/gene/257407/ortholog/. 
  20. ↑ "LOC103176070 uncharacterized protein C2orf72 homolog [Callorhinchus milii (elephant shark) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/?term=c2orf72+shark. 
  21. ↑ "uncharacterized protein C2orf72 homolog [Callorhinchus milii - Protein - NCBI"]. https://www.ncbi.nlm.nih.gov/protein/XP_007887618.2. 
  22. ↑ "PREDICTED: uncharacterized protein C2orf72 homolog Callorhinchus mili - Protein - NCBI". https://www.ncbi.nlm.nih.gov/protein/XP_007887618.1. 



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