Wikipedia

C2orf72

C2orf72 (Chromosome 2, Open Reading Frame 72) is a gene in humans (Homo sapiens) that encodes a protein currently named after its gene, C2orf72.[5] It is also designated LOC257407[5] and can be found under GenBank accession code NM_001144994.2.[6] The protein can be found under UniProt accession code A6NCS6.[7]

C2orf72
Identifiers
AliasesC2orf72, chromosome 2 open reading frame 72, Chromosome 2, Open Reading Frame 72
External IDsMGI: 1920042; HomoloGene: 54780; GeneCards: C2orf72; OMA:C2orf72 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

257407

72792

Ensembl

ENSG00000204128

ENSMUSG00000026227

UniProt

A6NCS6

Q9CYS6

RefSeq (mRNA)

NM_001144994

NM_001144992
NM_001144993

RefSeq (protein)

NP_001138466

NP_001138464
NP_001138465

Location (UCSC)Chr 2: 231.04 – 231.05 MbChr 1: 85.97 – 85.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene is primarily expressed in the liver, brain, placental, and small intestine tissues.[8] C2orf72 is an intracellular protein that has been predicted to reside within the nucleus, cytosol, and plasma membrane of cells.[5] The 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.[9] This prediction also matches with the fact that both estradiol[10] and testosterone[11] have been reported to upregulate expression of C2orf72.[12]

Gene

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Chromosome 2
 
See the red band: 2q37.1.

Locus

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C2orf72 is a protein-coding gene found on the forward (+) strand of chromosome 2 at the locus 2q37.1, on the long arm of the chromosome.[5]

mRNA

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C2orf72's mRNA transcript is reported to be about 3,629 base pairs long.[6] It appears to have two polyadenylation sites near the 5′ end of the mRNA transcript, each preceded by their respective regulatory sequences, such as ATTAAA or AATAAA.[6]

There are three predicted exons reported for human C2orf72.[6]

Expression pattern

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C2orf72 is preferentially expressed in brain, liver, placenta, colon, small intestine, gallbladder, stomach, and prostate, and to a lesser extent in adrenal gland, appendix, pancreas, lung, kidney, testis, and urinary bladder.[8]

Predicted Biological Functions

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Top Ten Predicted Biological Processes (GO) as of July 16, 2022, via Archs4.https://maayanlab.cloud/archs4/gene/C2ORF72

It is predicted via Archs4[13] (July 16, 2022) that the function of this gene may be related to very-low-density lipoprotein particle assembly[14] and also involved in the regulation of cholesterol esterification.[9]

Regulation

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Gene-level regulation

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Gene perturbation data

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In a study of embryonic liver samples lacking hepatocyte nuclear factor 4 alpha (HNF4α), the expression of C2orf72 was downregulated.[15]

Both estradiol[10] and testosterone[11] upregulate expression of C2orf72.[12]

Expression pattern

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C2orf72 mRNA and protein products are found preferentially in the liver, kidney, and placenta.[16] The protein is localized to the cell membrane and cytoplasm in liver, brain, and placental tissues.[16]

Transcript-level regulation

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miR-1271-5p is a microRNA that could bind to the 3′ untranslated region of the C2orf72 mRNA transcript at 5′-...GUGCCAA...-3′.[6][17][18]

Protein-level regulation

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Predicted phosphorylation sites

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There are at least two predicted phosphorylation sites for the human C2orf72 protein, one at threonine-286 and the other at serine-294.[7]

 
In this figure, in this case, I listed three possible phosphorylation sites: Serine-294, Threonine-286, and Serine-277.

Protein

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AlphaFold C2Orf72 protein structure prediction, as of July 16, 2022.https://alphafold.ebi.ac.uk/entry/A6NCS6
 
 
 

Human protein

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The predicted molecular weight of C2orf72 is 30.5 kDa,[19] and it has a predicted isoelectric point (pI) of pH 8.7.[20]

There are eight cysteine residues, for a potential of four disulfide bonds.[21] Most of the cysteine residues are positioned next to a polar amino acid (uncharged or positively or negatively charged).[21]

At physiological pH, there are 33 positively charged amino acid residues, including histidine, most of which are arginines.[21] Likewise, there are 33 negatively charged amino acid residues, most of which are glutamates.[21]

There are 14 hydroxyl-containing residues (tyrosine, threonine or serine) that could serve as typical phosphorylation sites; most of these are serines.[21]

 
I-TASSER for Protein Structure Prediction (Performed Calculation Approximately in July 2021 for C2Orf72's Predicted Amino Acid Sequence, Raw Form).[22]

Interacting proteins

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These proteins have been reported to interact with human C2orf72: RASN (GTPase NRas),[23] RASK (GTPase KRas),[23] and CD81.[24][25]

Homology

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There are at least 203 organisms with an ortholog of C2orf72.[26] The most evolutionarily distant reported ortholog of C2orf72 is in the Australian ghost shark (Callorhincus milii);,[27][28][29] and it is broadly conserved from Actinopterygii (bony fish) to Mammalia.

Table 1. Examples of species reported to have C2orf72 orthologs
Genus and species Common name Order Date of divergence from human

(million years ago)

GenBank accession

code

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 34.0
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 36.0 45.3
Hirundo rustica Barn swallow Passeriformes 312 XP_039930397.1 243 37.0 46.7
Aythya fuligula Tufted duck Anseriformes 312 XP_032049188 251 36.3 46.7
Anas platyrhynchos Mallard Anseriformes 312 XP_038039556.1 251 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
Pseudonaja textilis Eastern brown snake Squamata 312 XP_026577460.1 272 31.6 41.0
Pantherophis guttatus Corn snake Squamata 312 XP_034263860.1 252 33.0 42.5
Pogona vitticeps Central bearded dragon Squamata 312 XP_020657305.1 295 24.1 34.0
Zootoca vivipara Common lizard Squamata 312 XP_034989711.1 285 37.9 48.6
Lacerta agilis Sand lizard Squamata 312 XP_033004091.1 289 38.0 49.5
Podarcis muralis Common wall lizard Squamata 312 XP_028587763.1 272 38.7 50.8
Gopherus evgoodei Goode's thornscrub tortoise Testudines 312 XP_030431493.1 481 24.2 31.1
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
Dermochelys coriacea Leatherback sea turtle Testudines 312 XP_038272534.1 271 38.1 48.1
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
Xenopus tropicalis Tropical clawed frog Anura 351.8 XP_002937397.3 289 30.7 42.4
Rhinatrema bivittatum Two-lined caecilian Gymnophiona 351.8 XP_029473197.1 358 30.3 36.1
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
Acanthochromis polyacanthus Spiny chromis Perciformes 435 XP_022050415.1 317 21.8 35.6
Acanthopagrus latus Yellowfin seabream Perciformes 435 XP_036971960.1 309 22.0 35.5
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
Thunnus maccoyii Southern bluefin tuna Scombriformes 435 XP_042273029.1 329 20.2 34.0
Syngnathus acus Greater pipefish Syngnathiformes 435 XP_037106050.1 274 19.5 34.9
Callorhinchus milii Australian ghost shark Chimaeriformes 473 XP_007887618.1 413 17.6 26.5

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000204128 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026227 – 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. ^ a b c d "C2orf72 GeneCards". www.genecards.org. Retrieved 2021-08-02.
  6. ^ a b c d e "Homo sapiens chromosome 2 open reading frame 72 (C2orf72), mRNA". 2020-12-12 – via NCBI Nucleotide.
  7. ^ a b "iPTMnet Report A6NCS6 C2orf72". research.bioinformatics.udel.edu. Retrieved 2021-08-02.
  8. ^ a b "C2orf72 chromosome 2 open reading frame 72 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-02.
  9. ^ a b "ARCHS4". maayanlab.cloud. Retrieved 2021-08-02.
  10. ^ a b "Gene Set - estradiol_homo sapiens_gpl570_gds3283". maayanlab.cloud. Retrieved 2021-08-02.
  11. ^ a b "Gene Set - testosterone_mus musculus_gpl1261_gse17553". maayanlab.cloud. Retrieved 2021-08-02.
  12. ^ a b "Gene - C2ORF72". maayanlab.cloud. Retrieved 2021-08-02.
  13. ^ "ARCHS4". maayanlab.cloud. Retrieved 2022-07-16.
  14. ^ "QuickGO". www.ebi.ac.uk. Retrieved 2022-07-16.
  15. ^ "Gene Set - hnf4a_16714383_e18dot5_liver_lof_mouse_gpl1261_gds1916". maayanlab.cloud. Retrieved 2021-08-02.
  16. ^ a b "Tissue expression of C2orf72 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2021-08-02.
  17. ^ "miRDB - MicroRNA Target Prediction Database". mirdb.org. Retrieved 2021-08-02.
  18. ^ "TargetScanHuman 7.2". www.targetscan.org. Retrieved 2021-08-02.
  19. ^ "C2orf72 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2021-08-02.
  20. ^ "Compute pI/MW - SIB Swiss Institute of Bioinformatics | Expasy". www.expasy.org. Retrieved 2021-08-02.
  21. ^ a b c d e "uncharacterized protein C2orf72 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-02.
  22. ^ "I-TASSER server for protein structure and function prediction". zhanggroup.org. Retrieved 2022-07-16.
  23. ^ a b Kovalski JR, Bhaduri A, Zehnder AM, Neela PH, Che Y, Wozniak GG, Khavari PA (February 2019). "The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2". Molecular Cell. 73 (4): 830–844.e12. doi:10.1016/j.molcel.2018.12.001. PMC 6386588. PMID 30639242.
  24. ^ Bruening J, Lasswitz L, Banse P, Kahl S, Marinach C, Vondran FW, 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. PMC 6053247. PMID 30024968.
  25. ^ "HitPredict - High confidence protein-protein interactions". www.hitpredict.org. Retrieved 2021-08-02.
  26. ^ "C2orf72 orthologs". NCBI. Retrieved 2021-08-04.
  27. ^ "LOC103176070 uncharacterized protein C2orf72 homolog [Callorhinchus milii (elephant shark)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-04.
  28. ^ "uncharacterized protein C2orf72 homolog [Callorhinchus milii] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-08.
  29. ^ "PREDICTED: uncharacterized protein C2orf72 homolog Callorhinchus mili - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-08.
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