ID   GSC2_HUMAN              Reviewed;         205 AA.
AC   O15499;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 1.
DT   25-JAN-2012, entry version 94.
DE   RecName: Full=Homeobox protein goosecoid-2;
DE            Short=GSC-2;
DE   AltName: Full=Homeobox protein goosecoid-like;
DE            Short=GSC-L;
GN   Name=GSC2; Synonyms=GSCL;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CYS-47.
RX   MEDLINE=98110571; PubMed=9441739; DOI=10.1006/geno.1997.5046;
RA   Funke B., St Jore B., Puech A., Sirotkin H., Edelmann L., Carlson C.,
RA   Raft S., Pandita R.K., Kucherlapati R., Skoultchi A., Morrow B.E.;
RT   "Characterization and mutation analysis of goosecoid-like (GSCL), a
RT   homeodomain-containing gene that maps to the critical region for
RT   VCFS/DGS on 22q11.";
RL   Genomics 46:364-372(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=97294411; PubMed=9150167;
RA   Gottlieb S., Emanuel B.S., Driscoll D.A., Sellinger B., Wang Z.,
RA   Roe B., Budarf M.L.;
RT   "The DiGeorge syndrome minimal critical region contains a goosecoid-
RT   like (GSCL) homeobox gene that is expressed early in human
RT   development.";
RL   Am. J. Hum. Genet. 60:1194-1201(1997).
CC   -!- FUNCTION: May have a role in development. May regulate its own
CC       transcription. May bind the bicoid consensus sequence TAATCC.
CC   -!- SUBCELLULAR LOCATION: Nucleus (By similarity).
CC   -!- TISSUE SPECIFICITY: Detected in adult testis and pituitary, and in
CC       9-10 week fetal tissue (thorax). Probably expressed in other
CC       tissues at low levels.
CC   -!- DEVELOPMENTAL STAGE: Expressed in early human development as well
CC       as in a limited number of adult tissues.
CC   -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid
CC       subfamily.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
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DR   EMBL; U96402; AAC39544.1; -; Genomic_DNA.
DR   IPI; IPI00006760; -.
DR   RefSeq; NP_005306.1; NM_005315.1.
DR   UniGene; Hs.534318; -.
DR   ProteinModelPortal; O15499; -.
DR   SMR; O15499; 127-189.
DR   STRING; O15499; -.
DR   PRIDE; O15499; -.
DR   Ensembl; ENST00000086933; ENSP00000086933; ENSG00000063515.
DR   GeneID; 2928; -.
DR   KEGG; hsa:2928; -.
DR   UCSC; uc002zox.1; human.
DR   CTD; 2928; -.
DR   GeneCards; GC22M019136; -.
DR   HGNC; HGNC:4613; GSC2.
DR   HPA; HPA043011; -.
DR   MIM; 601845; gene.
DR   neXtProt; NX_O15499; -.
DR   PharmGKB; PA162390265; -.
DR   GeneTree; ENSGT00600000084183; -.
DR   HOGENOM; HBG125479; -.
DR   HOVERGEN; HBG005922; -.
DR   InParanoid; O15499; -.
DR   OMA; PAAPCAC; -.
DR   OrthoDB; EOG4RFKV2; -.
DR   PhylomeDB; O15499; -.
DR   NextBio; 11607; -.
DR   ArrayExpress; O15499; -.
DR   CleanEx; HS_GSC2; -.
DR   Genevestigator; O15499; -.
DR   GermOnline; ENSG00000063515; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; IDA:MGI.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IDA:MGI.
DR   InterPro; IPR001356; Homeobox.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR009057; Homeodomain-like.
DR   InterPro; IPR012287; Homeodomain-rel.
DR   Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1.
DR   KO; K09325; -.
DR   Pfam; PF00046; Homeobox; 1.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; Homeodomain_like; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; DNA-binding; Homeobox; Nucleus; Polymorphism;
KW   Reference proteome.
FT   CHAIN         1    205       Homeobox protein goosecoid-2.
FT                                /FTId=PRO_0000048891.
FT   DNA_BIND    126    185       Homeobox.
FT   COMPBIAS      2      5       Poly-Ala.
FT   COMPBIAS     64     70       Poly-Cys.
FT   VARIANT      47     47       R -> C (in dbSNP:rs34341950).
FT                                /FTId=VAR_008549.
SQ   SEQUENCE   205 AA;  21545 MW;  665C33D9C454E7A7 CRC64;
     MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP AKPEEPGAPE
     AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV PLSLGAPAGG SGALPGAVGP
     GSQRRTRRHR TIFSEEQLQA LEALFVQNQY PDVSTRERLA GRIRLREERV EVWFKNRRAK
     WRHQKRASAS ARLLPGVKKS PKGSC
//