CB080_HUMAN
ID CB080_HUMAN Reviewed; 193 AA.
AC Q0P641; A6NKZ3;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 2.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=Uncharacterized protein C2orf80;
GN Name=C2orf80;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ARG-130.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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DR EMBL; AC016697; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035737; AAH35737.1; -; mRNA.
DR CCDS; CCDS42809.1; -.
DR RefSeq; NP_001092804.1; NM_001099334.2.
DR RefSeq; XP_016859565.1; XM_017004076.1.
DR AlphaFoldDB; Q0P641; -.
DR BioGRID; 132959; 1.
DR STRING; 9606.ENSP00000343171; -.
DR BioMuta; C2orf80; -.
DR DMDM; 294862414; -.
DR PaxDb; Q0P641; -.
DR PRIDE; Q0P641; -.
DR Antibodypedia; 52192; 38 antibodies from 8 providers.
DR DNASU; 389073; -.
DR Ensembl; ENST00000341287.9; ENSP00000343171.4; ENSG00000188674.11.
DR GeneID; 389073; -.
DR KEGG; hsa:389073; -.
DR MANE-Select; ENST00000341287.9; ENSP00000343171.4; NM_001099334.3; NP_001092804.2.
DR UCSC; uc002vcr.4; human.
DR CTD; 389073; -.
DR DisGeNET; 389073; -.
DR GeneCards; C2orf80; -.
DR HGNC; HGNC:34352; C2orf80.
DR HPA; ENSG00000188674; Group enriched (brain, choroid plexus).
DR MIM; 615536; gene.
DR neXtProt; NX_Q0P641; -.
DR OpenTargets; ENSG00000188674; -.
DR PharmGKB; PA162379620; -.
DR VEuPathDB; HostDB:ENSG00000188674; -.
DR eggNOG; ENOG502S0E2; Eukaryota.
DR GeneTree; ENSGT00390000004840; -.
DR HOGENOM; CLU_094619_0_0_1; -.
DR InParanoid; Q0P641; -.
DR OMA; SYKAVHH; -.
DR OrthoDB; 1331662at2759; -.
DR PhylomeDB; Q0P641; -.
DR TreeFam; TF338259; -.
DR PathwayCommons; Q0P641; -.
DR BioGRID-ORCS; 389073; 11 hits in 1036 CRISPR screens.
DR GenomeRNAi; 389073; -.
DR Pharos; Q0P641; Tdark.
DR PRO; PR:Q0P641; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q0P641; protein.
DR Bgee; ENSG00000188674; Expressed in endothelial cell and 106 other tissues.
DR ExpressionAtlas; Q0P641; baseline and differential.
DR Genevisible; Q0P641; HS.
DR InterPro; IPR038776; C2orf80.
DR PANTHER; PTHR36296; PTHR36296; 1.
DR Pfam; PF17718; DUF5563; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..193
FT /note="Uncharacterized protein C2orf80"
FT /id="PRO_0000326123"
FT REGION 155..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 155..182
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 82
FT /note="R -> H (in dbSNP:rs11898181)"
FT /id="VAR_050717"
FT VARIANT 130
FT /note="C -> R (in dbSNP:rs6435421)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050718"
FT VARIANT 152
FT /note="S -> G (in dbSNP:rs10804166)"
FT /id="VAR_050719"
SQ SEQUENCE 193 AA; 22038 MW; 20A0E5654F8AFF1B CRC64;
MERRLIKKEM KKLLGDYIGI RLRENEFDPK GRRQLTFLDD MAHYDLAISV ALQWLDPSED
LTWLEWEELK IPLHGRPIYP NRREREAMIL SSYAGILMNS IPIEEVFKIY GADSSADSGT
IKVPRVSSLC LSLHPFAMLT APKAAAYARK QSVKSRKVTT NKNATSISAK EANATEWKSS
QRFSDTQPKH KVT
