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.
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 troglodytesChimpanzeePrimates6.7XP_516141.529598.698.6Pongo abeliiSumatran orangutanPrimates15.76XP_024099683.129595.396.9Castor canadensisAmerican beaverRodentia90XP_020011841.128277.682.4Oryx dammahScimitar-horned oryxArtiodactyla96XP_040084064.128574.679.3Sus scrofaWild boarArtiodactyla96XP_005657646.128275.380.7Tursiops truncatusCommon bottlenose dolphinCetacea96XP_033715450.128576.980.7Felis catusDomestic catCarnivora96XP_023115562.128680.183.1Eptesicus fuscusBig brown batChiroptera96XP_027993078.115136.138.9Corapipo alteraWhite-ruffed manakinPasseriformes312XP_027503457.1 18126.734.0Pipra filicaudaWire-tailed manakinPasseriformes312XP_027606890.1 24334.745.2Taeniopygia guttataZebra finchPasseriformes312XP_030136117.3 25535.145.4Corvus cornix cornixHooded crowPasseriformes312XP_039412719.1 24536.045.3Hirundo rusticaBarn swallowPasseriformes312XP_039930397.1 24337.046.7Aythya fuligulaTufted duckAnseriformes312XP_03204918825136.346.7Anas platyrhynchosMallardAnseriformes312XP_038039556.125136.346.7Protobothrops mucrosquamatusBrown-spotted pit viperSquamata312XP_029139335.1 27822.934.5Python bivittatusBurmese pythonSquamata312XP_025023716.1 27923.335.9Pseudonaja textilisEastern brown snakeSquamata312XP_026577460.1 27231.641.0Pantherophis guttatusCorn snakeSquamata312XP_034263860.1 25233.042.5Pogona vitticepsCentral bearded dragonSquamata312XP_020657305.1 29524.134.0Zootoca viviparaCommon lizardSquamata312XP_034989711.1 28537.948.6Lacerta agilisSand lizardSquamata312XP_033004091.1 28938.049.5Podarcis muralisCommon wall lizardSquamata312XP_028587763.1 27238.750.8Gopherus evgoodeiGoode's thornscrub tortoiseTestudines312XP_030431493.1 48124.231.1Terrapene carolina triunguisThree-toed box turtleTestudines312XP_029766982.1 26235.143.2Chrysemys picta belliiPainted turtleTestudines312XP_023966073.1 30636.647.4Dermochelys coriaceaLeatherback sea turtleTestudines312XP_038272534.1 27138.148.1Mauremys reevesiiReeves' turtleTestudines312XP_039344659.1 27739.551.4Nanorana parkeriHigh Himalaya frogAnura351.8XP_018432004.1 30427.340.1Xenopus tropicalisTropical clawed frogAnura351.8XP_002937397.3 28930.742.4Rhinatrema bivittatumTwo-lined caecilianGymnophiona351.8XP_029473197.1 35830.336.1Geotrypetes seraphiniGaboon caecilianGymnophiona351.8XP_033814148.1 23333.944.2Parambassis rangaIndian glass fishPerciformes435XP_028260036.1 33419.734.5Acanthochromis polyacanthusSpiny chromisPerciformes435XP_022050415.1 31721.835.6Acanthopagrus latusYellowfin seabreamPerciformes435XP_036971960.130922.035.5Cyprinodon tularosaWhite Sands pupfishCyprinodontiformes435XP_038147473.1 29620.133.1Esox luciusNorthern pikeEsociformes435XP_012990404.1 33220.633.1Thunnus maccoyiiSouthern bluefin tunaScombriformes435XP_042273029.132920.234.0Syngnathus acusGreater pipefishSyngnathiformes435XP_037106050.127419.534.9Callorhinchus miliiAustralian ghost sharkChimaeriformes473XP_007887618.141317.626.5
References