SMCO2_HUMAN
ID SMCO2_HUMAN Reviewed; 343 AA.
AC A6NFE2;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Single-pass membrane and coiled-coil domain-containing protein 2;
GN Name=SMCO2; Synonyms=C12orf70;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 92-219.
RA Stevens M., Wei C., Gross S.S., McPherson J., Brent M.R.;
RT "Exhaustive RT-PCR and sequencing of all novel TWINSCAN predictions in
RT human.";
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC068794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; DY654457; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS44852.1; -.
DR RefSeq; NP_001138482.1; NM_001145010.1.
DR RefSeq; XP_011518936.1; XM_011520634.2.
DR AlphaFoldDB; A6NFE2; -.
DR STRING; 9606.ENSP00000387617; -.
DR GlyGen; A6NFE2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; A6NFE2; -.
DR PhosphoSitePlus; A6NFE2; -.
DR BioMuta; SMCO2; -.
DR EPD; A6NFE2; -.
DR jPOST; A6NFE2; -.
DR MassIVE; A6NFE2; -.
DR PaxDb; A6NFE2; -.
DR PeptideAtlas; A6NFE2; -.
DR PRIDE; A6NFE2; -.
DR ProteomicsDB; 1045; -.
DR Antibodypedia; 2577; 16 antibodies from 9 providers.
DR DNASU; 341346; -.
DR Ensembl; ENST00000416383.5; ENSP00000387617.1; ENSG00000165935.9.
DR Ensembl; ENST00000535986.1; ENSP00000441688.1; ENSG00000165935.9.
DR GeneID; 341346; -.
DR KEGG; hsa:341346; -.
DR MANE-Select; ENST00000535986.2; ENSP00000441688.1; NM_001395208.2; NP_001382137.1.
DR UCSC; uc010sjq.2; human.
DR CTD; 341346; -.
DR DisGeNET; 341346; -.
DR GeneCards; SMCO2; -.
DR HGNC; HGNC:34448; SMCO2.
DR HPA; ENSG00000165935; Tissue enhanced (brain).
DR neXtProt; NX_A6NFE2; -.
DR OpenTargets; ENSG00000165935; -.
DR VEuPathDB; HostDB:ENSG00000165935; -.
DR eggNOG; ENOG502RNQM; Eukaryota.
DR GeneTree; ENSGT00940000153380; -.
DR HOGENOM; CLU_067010_0_0_1; -.
DR InParanoid; A6NFE2; -.
DR OMA; FQLNHWN; -.
DR OrthoDB; 1093587at2759; -.
DR PhylomeDB; A6NFE2; -.
DR TreeFam; TF338250; -.
DR PathwayCommons; A6NFE2; -.
DR SignaLink; A6NFE2; -.
DR BioGRID-ORCS; 341346; 14 hits in 1070 CRISPR screens.
DR ChiTaRS; SMCO2; human.
DR GenomeRNAi; 341346; -.
DR Pharos; A6NFE2; Tdark.
DR PRO; PR:A6NFE2; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; A6NFE2; protein.
DR Bgee; ENSG00000165935; Expressed in lower esophagus mucosa and 85 other tissues.
DR ExpressionAtlas; A6NFE2; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026617; SMCO2/5.
DR PANTHER; PTHR22422; PTHR22422; 1.
DR Pfam; PF14992; TMCO5; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..343
FT /note="Single-pass membrane and coiled-coil domain-
FT containing protein 2"
FT /id="PRO_0000340699"
FT TRANSMEM 284..304
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 86..108
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 152..238
FT /evidence="ECO:0000255"
FT COMPBIAS 86..103
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 129
FT /note="K -> M (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 165
FT /note="T -> P (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 175
FT /note="D -> E (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 180
FT /note="K -> R (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 198..199
FT /note="ST -> CA (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 212
FT /note="K -> N (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
FT CONFLICT 216
FT /note="E -> Q (in Ref. 2; DY654457)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 343 AA; 39487 MW; 80CF8FAD3758B66B CRC64;
MALTPTNLNN KMSLQMKMDC QEQQLTKKNN GFFQKLNVTE GAMQDLLKEI IKVDHILDRS
DDEDDISSEN PQTDFLHKGM LELEAEHDQD LSKQDKQETD VDEDPQASTS LQFSKKNLLE
LCLKGMFLKL NYWNTKIGLQ VKELGADYID GTEKIDNIIK KINVTENTVK SLLKDMLTLK
GQIEKLEDRG LDLDQGTSTE VNTCNEVYEL KKKVIERLED LCKNVELLSA KLRMYQMEAE
DTDSHSSEEI DTEEMEALLP QAPASFLVQK SPPRNTAWKR ALRIFIMFDV LTVTGLLCYI
LFFGATFLFE RVLLRMLGCR TTWDLREMRE PFLNLEVEAL LPS
