WSCD2_HUMAN
ID WSCD2_HUMAN Reviewed; 565 AA.
AC Q2TBF2; B2RN48; B4DES1; Q8IY35; Q9Y4B7;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=WSC domain-containing protein 2;
GN Name=WSCD2; Synonyms=KIAA0789;
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 MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9872452; DOI=10.1093/dnares/5.5.277;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XI. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:277-286(1998).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 261-565 (ISOFORM 2), AND VARIANT ILE-266.
RC TISSUE=Brain, Testis, and Urinary bladder;
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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2TBF2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2TBF2-2; Sequence=VSP_028211;
CC -!- SIMILARITY: Belongs to the WSCD family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH37969.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The N-terminus may be contaminated with vector sequence.; Evidence={ECO:0000305};
CC Sequence=BAA34509.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB018332; BAA34509.2; ALT_INIT; mRNA.
DR EMBL; AK293764; BAG57182.1; -; mRNA.
DR EMBL; CH471054; EAW97809.1; -; Genomic_DNA.
DR EMBL; BC037969; AAH37969.2; ALT_SEQ; mRNA.
DR EMBL; BC110330; AAI10331.1; -; mRNA.
DR EMBL; BC136687; AAI36688.1; -; mRNA.
DR EMBL; BC136688; AAI36689.1; -; mRNA.
DR CCDS; CCDS41828.1; -. [Q2TBF2-1]
DR RefSeq; NP_001291376.1; NM_001304447.1. [Q2TBF2-1]
DR RefSeq; NP_055468.2; NM_014653.3. [Q2TBF2-1]
DR RefSeq; XP_016875732.1; XM_017020243.1. [Q2TBF2-1]
DR RefSeq; XP_016875733.1; XM_017020244.1. [Q2TBF2-1]
DR RefSeq; XP_016875734.1; XM_017020245.1. [Q2TBF2-1]
DR RefSeq; XP_016875735.1; XM_017020246.1. [Q2TBF2-1]
DR RefSeq; XP_016875736.1; XM_017020247.1. [Q2TBF2-1]
DR RefSeq; XP_016875737.1; XM_017020248.1. [Q2TBF2-1]
DR AlphaFoldDB; Q2TBF2; -.
DR BioGRID; 115026; 1.
DR STRING; 9606.ENSP00000331933; -.
DR GlyGen; Q2TBF2; 2 sites.
DR iPTMnet; Q2TBF2; -.
DR PhosphoSitePlus; Q2TBF2; -.
DR BioMuta; WSCD2; -.
DR DMDM; 158706498; -.
DR MassIVE; Q2TBF2; -.
DR PaxDb; Q2TBF2; -.
DR PeptideAtlas; Q2TBF2; -.
DR PRIDE; Q2TBF2; -.
DR ProteomicsDB; 61494; -. [Q2TBF2-1]
DR ProteomicsDB; 61495; -. [Q2TBF2-2]
DR Antibodypedia; 2240; 89 antibodies from 20 providers.
DR DNASU; 9671; -.
DR Ensembl; ENST00000332082.8; ENSP00000331933.4; ENSG00000075035.10. [Q2TBF2-1]
DR Ensembl; ENST00000547525.6; ENSP00000448047.1; ENSG00000075035.10. [Q2TBF2-1]
DR Ensembl; ENST00000549903.1; ENSP00000447272.1; ENSG00000075035.10. [Q2TBF2-2]
DR GeneID; 9671; -.
DR KEGG; hsa:9671; -.
DR MANE-Select; ENST00000547525.6; ENSP00000448047.1; NM_014653.4; NP_055468.2.
DR UCSC; uc001tms.4; human. [Q2TBF2-1]
DR CTD; 9671; -.
DR DisGeNET; 9671; -.
DR GeneCards; WSCD2; -.
DR HGNC; HGNC:29117; WSCD2.
DR HPA; ENSG00000075035; Tissue enhanced (brain, thyroid gland).
DR MIM; 619253; gene.
DR neXtProt; NX_Q2TBF2; -.
DR OpenTargets; ENSG00000075035; -.
DR PharmGKB; PA162409276; -.
DR VEuPathDB; HostDB:ENSG00000075035; -.
DR eggNOG; KOG4157; Eukaryota.
DR GeneTree; ENSGT00940000159434; -.
DR HOGENOM; CLU_029239_0_0_1; -.
DR InParanoid; Q2TBF2; -.
DR OMA; ECKGERS; -.
DR OrthoDB; 809004at2759; -.
DR PhylomeDB; Q2TBF2; -.
DR TreeFam; TF324060; -.
DR PathwayCommons; Q2TBF2; -.
DR BioGRID-ORCS; 9671; 164 hits in 1062 CRISPR screens.
DR ChiTaRS; WSCD2; human.
DR GenomeRNAi; 9671; -.
DR Pharos; Q2TBF2; Tdark.
DR PRO; PR:Q2TBF2; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q2TBF2; protein.
DR Bgee; ENSG00000075035; Expressed in cerebellar cortex and 139 other tissues.
DR ExpressionAtlas; Q2TBF2; baseline and differential.
DR Genevisible; Q2TBF2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR002889; WSC_carb-bd.
DR Pfam; PF01822; WSC; 2.
DR SMART; SM00321; WSC; 2.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51212; WSC; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..565
FT /note="WSC domain-containing protein 2"
FT /id="PRO_0000305065"
FT TRANSMEM 19..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 127..219
FT /note="WSC 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00558"
FT DOMAIN 230..324
FT /note="WSC 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00558"
FT CARBOHYD 189
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 242
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 448
FT /note="K -> KGAVPGSLQILFRSICTASVG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028211"
FT VARIANT 266
FT /note="T -> I (in dbSNP:rs3764002)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035161"
FT CONFLICT 325
FT /note="V -> D (in Ref. 3; BAG57182)"
FT /evidence="ECO:0000305"
FT CONFLICT 367
FT /note="F -> S (in Ref. 3; BAG57182)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 565 AA; 63817 MW; C47F8EBE88734709 CRC64;
MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCTEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR
