Top Qs
Timeline
Chat
Perspective
C2orf72
Human protein encoding gene From Wikipedia, the free encyclopedia
Remove ads
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]
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]
Remove ads
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.[5]
mRNA
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
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
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]
Remove ads
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.[15]
Both estradiol[10] and testosterone[11] upregulate expression of C2orf72.[12]
Expression pattern
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
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
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.[7]
Remove ads
Protein
Human protein
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]
Interacting proteins
These proteins have been reported to interact with human C2orf72: RASN (GTPase NRas),[23] RASK (GTPase KRas),[23] and CD81.[24][25]
Homology
Summarize
Perspective
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.
Remove ads
References
Wikiwand - on
Seamless Wikipedia browsing. On steroids.
Remove ads