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C2orf72
Identifiers
Aliases	C2orf72, chromosome 2 open reading frame 72, Chromosome 2, Open Reading Frame 72
External IDs	MGI: 1920042; HomoloGene: 54780; GeneCards: C2orf72; OMA:C2orf72 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 231,037,523 bp End 231,049,719 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C5 Start 85,973,585 bp End 85,983,178 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right frontal lobe nucleus accumbens ventricular zone Amygdala putamen caudate nucleus Brodmann area 9 hippocampus proper cingulate gyrus Top expressed in left lobe of liver yolk sac ventricular zone Rostral migratory stream left colon epithelium of stomach duodenum medial ganglionic eminence jejunum substantia nigra More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 1: 85.97 – 85.98 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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

Gene

Locus

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.

mRNA

C2orf72's mRNA transcript is reported to be about 3,629 base pairs long. 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.

There are three predicted exons reported for human C2orf72.

Expression pattern

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.

Predicted Biological Functions

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

Regulation

Gene-level regulation

Gene perturbation data

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

Both estradiol and testosterone upregulate expression of C2orf72.

Expression pattern

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

Transcript-level regulation

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

Protein-level regulation

Predicted phosphorylation sites

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

Protein

Human protein

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

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

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

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

Interacting proteins

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

Homology

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

References

1. ^ GRCh38: Ensembl release 89: ENSG00000204128 – Ensembl, May 2017
2. ^ 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. ^ "C2orf72 GeneCards". www.genecards.org. Retrieved 2021-08-02.
6. ^ "Homo sapiens chromosome 2 open reading frame 72 (C2orf72), mRNA". 2020-12-12 – via NCBI Nucleotide.
7. ^ "iPTMnet Report A6NCS6 C2orf72". research.bioinformatics.udel.edu. Retrieved 2021-08-02.
8. ^ "C2orf72 chromosome 2 open reading frame 72 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-08-02.
9. ^ "ARCHS4". maayanlab.cloud. Retrieved 2021-08-02.
10. ^ "Gene Set - estradiol_homo sapiens_gpl570_gds3283". maayanlab.cloud. Retrieved 2021-08-02.
11. ^ "Gene Set - testosterone_mus musculus_gpl1261_gse17553". maayanlab.cloud. Retrieved 2021-08-02.
12. ^ "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. ^ "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. ^ "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. ^ 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.

• Genes on human chromosome 2
• Genes
• Lipids
• Cholesterol and steroid metabolism disorders