VCX2_HUMAN
ID VCX2_HUMAN Reviewed; 139 AA.
AC Q9H322; A3KPB6; Q4V9T2; Q9P0H5;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Variable charge X-linked protein 2;
DE AltName: Full=Variable charge protein on X with two repeats;
DE Short=VCX-2r;
DE AltName: Full=Variably charged protein X-B;
DE Short=VCX-B;
GN Name=VCX2; Synonyms=VCX2R, VCXB;
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 [MRNA], AND VARIANTS GLY-70; PRO-104; LEU-110 AND
RP SER-138.
RX PubMed=10903929; DOI=10.1086/303047;
RA Fukami M., Kirsch S., Schiller S., Richter A., Benes V., Franco B.,
RA Muroya K., Rao E., Merker S., Niesler B., Ballabio A., Ansorge W.,
RA Ogata T., Rappold G.A.;
RT "A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-
RT linked nonspecific mental retardation.";
RL Am. J. Hum. Genet. 67:563-573(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS GLY-70; PRO-104; LEU-110 AND
RP SER-138.
RX PubMed=10607842; DOI=10.1093/hmg/9.2.311;
RA Lahn B.T., Page D.C.;
RT "A human sex-chromosomal gene family expressed in male germ cells and
RT encoding variably charged proteins.";
RL Hum. Mol. Genet. 9:311-319(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-70; PRO-104;
RP LEU-110 AND SER-138.
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 -!- FUNCTION: May mediate a process in spermatogenesis or may play a role
CC in sex ratio distortion.
CC -!- TISSUE SPECIFICITY: Expressed exclusively in testis.
CC -!- SIMILARITY: Belongs to the VCX/VCY family. {ECO:0000305}.
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DR EMBL; AF167079; AAG41765.1; -; mRNA.
DR EMBL; AF159127; AAF28172.1; -; mRNA.
DR EMBL; AC097626; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC096715; AAH96715.1; -; mRNA.
DR EMBL; BC098113; AAH98113.1; -; mRNA.
DR EMBL; BC098163; AAH98163.1; -; mRNA.
DR EMBL; BC134350; AAI34351.1; -; mRNA.
DR CCDS; CCDS35200.1; -.
DR RefSeq; NP_057462.2; NM_016378.3.
DR AlphaFoldDB; Q9H322; -.
DR BioGRID; 119565; 9.
DR STRING; 9606.ENSP00000321309; -.
DR iPTMnet; Q9H322; -.
DR PhosphoSitePlus; Q9H322; -.
DR BioMuta; VCX2; -.
DR DMDM; 313104263; -.
DR MassIVE; Q9H322; -.
DR PaxDb; Q9H322; -.
DR PeptideAtlas; Q9H322; -.
DR PRIDE; Q9H322; -.
DR Antibodypedia; 58417; 4 antibodies from 4 providers.
DR DNASU; 51480; -.
DR Ensembl; ENST00000317103.5; ENSP00000321309.4; ENSG00000177504.10.
DR GeneID; 51480; -.
DR KEGG; hsa:51480; -.
DR MANE-Select; ENST00000317103.5; ENSP00000321309.4; NM_016378.3; NP_057462.2.
DR UCSC; uc004csb.3; human.
DR CTD; 51480; -.
DR DisGeNET; 51480; -.
DR GeneCards; VCX2; -.
DR HGNC; HGNC:18158; VCX2.
DR HPA; ENSG00000177504; Tissue enriched (testis).
DR MIM; 300532; gene.
DR neXtProt; NX_Q9H322; -.
DR OpenTargets; ENSG00000177504; -.
DR PharmGKB; PA134891971; -.
DR VEuPathDB; HostDB:ENSG00000177504; -.
DR eggNOG; KOG3216; Eukaryota.
DR GeneTree; ENSGT00440000034745; -.
DR HOGENOM; CLU_108293_0_0_1; -.
DR InParanoid; Q9H322; -.
DR OMA; WMASFSP; -.
DR PathwayCommons; Q9H322; -.
DR BioGRID-ORCS; 51480; 159 hits in 617 CRISPR screens.
DR GenomeRNAi; 51480; -.
DR Pharos; Q9H322; Tdark.
DR PRO; PR:Q9H322; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H322; protein.
DR Bgee; ENSG00000177504; Expressed in left testis and 7 other tissues.
DR Genevisible; Q9H322; HS.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR InterPro; IPR026653; VCX/VCY1.
DR Pfam; PF15231; VCX_VCY; 1.
PE 2: Evidence at transcript level;
KW Reference proteome; Repeat.
FT CHAIN 1..139
FT /note="Variable charge X-linked protein 2"
FT /id="PRO_0000184660"
FT REPEAT 104..113
FT /note="1"
FT REPEAT 114..123
FT /note="2"
FT REGION 1..139
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 104..123
FT /note="2 X 10 AA tandem repeats of L-S-Q-E-S-[EQ]-V-E-E-P"
FT COMPBIAS 18..32
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 36..54
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 70
FT /note="A -> G (in dbSNP:rs41309545)"
FT /evidence="ECO:0000269|PubMed:10607842,
FT ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334"
FT /id="VAR_047772"
FT VARIANT 104
FT /note="L -> P (in dbSNP:rs41305169)"
FT /evidence="ECO:0000269|PubMed:10607842,
FT ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334"
FT /id="VAR_047773"
FT VARIANT 110
FT /note="V -> L (in dbSNP:rs1058237)"
FT /evidence="ECO:0000269|PubMed:10607842,
FT ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334"
FT /id="VAR_047774"
FT VARIANT 138
FT /note="T -> S (in dbSNP:rs1058239)"
FT /evidence="ECO:0000269|PubMed:10607842,
FT ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334"
FT /id="VAR_047775"
FT CONFLICT 40
FT /note="K -> E (in Ref. 2; AAF28172)"
FT /evidence="ECO:0000305"
FT CONFLICT 108
FT /note="S -> A (in Ref. 1; AAG41765, 2; AAF28172 and 4;
FT AAH98113/AAH96715/AAH98163)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 139 AA; 14661 MW; 0AE8B40CF2A3B739 CRC64;
MSPKPRASGP PAKATEAGKR KSSSQPSPSD PKKKTTKVAK KGKAVRRGRR GKKGAATKMA
AVTAPEAESA PAAPGPSDQP SQELPQHELP PEEPVSEGTQ HDPLSQESEV EEPLSQESEV
EEPLTVWMAS FSPVSESTD
