GSC2_HUMAN
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 03-AUG-2022, entry version 162.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CYS-47.
RX 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 VCFS/DGS
RT on 22q11.";
RL Genomics 46:364-372(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9150167;
RA Gottlieb S., Emanuel B.S., Driscoll D.A., Sellinger B., Wang Z., Roe B.,
RA Budarf M.L.;
RT "The DiGeorge syndrome minimal critical region contains a goosecoid-like
RT (GSCL) homeobox gene that is expressed early in human 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 -!- INTERACTION:
CC O15499; P05187: ALPP; NbExp=3; IntAct=EBI-19954058, EBI-1211484;
CC O15499; P08758: ANXA5; NbExp=3; IntAct=EBI-19954058, EBI-296601;
CC O15499; Q12797-6: ASPH; NbExp=3; IntAct=EBI-19954058, EBI-12092171;
CC O15499; Q8N1M1-5: BEST3; NbExp=3; IntAct=EBI-19954058, EBI-20140863;
CC O15499; Q12982: BNIP2; NbExp=3; IntAct=EBI-19954058, EBI-752094;
CC O15499; Q8N9M1-2: C19orf47; NbExp=3; IntAct=EBI-19954058, EBI-10979594;
CC O15499; Q13901: C1D; NbExp=3; IntAct=EBI-19954058, EBI-3844053;
CC O15499; P27797: CALR; NbExp=3; IntAct=EBI-19954058, EBI-1049597;
CC O15499; P55273: CDKN2D; NbExp=3; IntAct=EBI-19954058, EBI-745859;
CC O15499; Q9H5X1: CIAO2A; NbExp=3; IntAct=EBI-19954058, EBI-752069;
CC O15499; P27658: COL8A1; NbExp=3; IntAct=EBI-19954058, EBI-747133;
CC O15499; O75575-2: CRCP; NbExp=3; IntAct=EBI-19954058, EBI-12880830;
CC O15499; P68400: CSNK2A1; NbExp=3; IntAct=EBI-19954058, EBI-347804;
CC O15499; Q9Y463: DYRK1B; NbExp=3; IntAct=EBI-19954058, EBI-634187;
CC O15499; Q9H6Z9: EGLN3; NbExp=3; IntAct=EBI-19954058, EBI-1175354;
CC O15499; P63241: EIF5A; NbExp=3; IntAct=EBI-19954058, EBI-373150;
CC O15499; Q16134: ETFDH; NbExp=3; IntAct=EBI-19954058, EBI-2870454;
CC O15499; A6H8Z2: FAM221B; NbExp=3; IntAct=EBI-19954058, EBI-12006844;
CC O15499; O75344: FKBP6; NbExp=3; IntAct=EBI-19954058, EBI-744771;
CC O15499; Q8NCW6-2: GALNT11; NbExp=3; IntAct=EBI-19954058, EBI-13364322;
CC O15499; O75603: GCM2; NbExp=3; IntAct=EBI-19954058, EBI-10188645;
CC O15499; Q6ZYL4: GTF2H5; NbExp=3; IntAct=EBI-19954058, EBI-6380438;
CC O15499; Q9H1H1: GTSF1L; NbExp=3; IntAct=EBI-19954058, EBI-19128683;
CC O15499; P43080: GUCA1A; NbExp=3; IntAct=EBI-19954058, EBI-6873005;
CC O15499; P33402: GUCY1A2; NbExp=3; IntAct=EBI-19954058, EBI-6911715;
CC O15499; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-19954058, EBI-2549423;
CC O15499; Q2M1V0: ISX; NbExp=3; IntAct=EBI-19954058, EBI-6426064;
CC O15499; O15550: KDM6A; NbExp=3; IntAct=EBI-19954058, EBI-4292203;
CC O15499; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-19954058, EBI-6426443;
CC O15499; O76011: KRT34; NbExp=3; IntAct=EBI-19954058, EBI-1047093;
CC O15499; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-19954058, EBI-3958099;
CC O15499; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-19954058, EBI-10245456;
CC O15499; Q8WV07: LTO1; NbExp=3; IntAct=EBI-19954058, EBI-12249832;
CC O15499; Q9UI95: MAD2L2; NbExp=3; IntAct=EBI-19954058, EBI-77889;
CC O15499; P45984: MAPK9; NbExp=3; IntAct=EBI-19954058, EBI-713568;
CC O15499; Q9Y4F3: MARF1; NbExp=3; IntAct=EBI-19954058, EBI-5235902;
CC O15499; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-19954058, EBI-10172526;
CC O15499; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-19954058, EBI-10288852;
CC O15499; Q96EL3: MRPL53; NbExp=3; IntAct=EBI-19954058, EBI-2513715;
CC O15499; Q9Y3D9: MRPS23; NbExp=3; IntAct=EBI-19954058, EBI-1054270;
CC O15499; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-19954058, EBI-744782;
CC O15499; Q9UNF0: PACSIN2; NbExp=3; IntAct=EBI-19954058, EBI-742503;
CC O15499; Q08493-2: PDE4C; NbExp=3; IntAct=EBI-19954058, EBI-12169289;
CC O15499; O43741: PRKAB2; NbExp=3; IntAct=EBI-19954058, EBI-1053424;
CC O15499; Q96BW5: PTER; NbExp=3; IntAct=EBI-19954058, EBI-4291023;
CC O15499; Q9H7N4: SCAF1; NbExp=3; IntAct=EBI-19954058, EBI-1222181;
CC O15499; O00560: SDCBP; NbExp=3; IntAct=EBI-19954058, EBI-727004;
CC O15499; Q9BVW5: TIPIN; NbExp=3; IntAct=EBI-19954058, EBI-2515360;
CC O15499; O14787-2: TNPO2; NbExp=3; IntAct=EBI-19954058, EBI-12076664;
CC O15499; Q969E8: TSR2; NbExp=3; IntAct=EBI-19954058, EBI-746981;
CC O15499; Q712K3: UBE2R2; NbExp=3; IntAct=EBI-19954058, EBI-2340879;
CC O15499; Q3SXR9: VCX2; NbExp=3; IntAct=EBI-19954058, EBI-11983741;
CC O15499; Q13426: XRCC4; NbExp=3; IntAct=EBI-19954058, EBI-717592;
CC O15499; P62699: YPEL5; NbExp=3; IntAct=EBI-19954058, EBI-11721624;
CC O15499; Q8N0Y2-2: ZNF444; NbExp=3; IntAct=EBI-19954058, EBI-12010736;
CC O15499; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-19954058, EBI-6427977;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- TISSUE SPECIFICITY: Detected in adult testis and pituitary, and in 9-10
CC week fetal tissue (thorax). Probably expressed in other tissues at low
CC levels.
CC -!- DEVELOPMENTAL STAGE: Expressed in early human development as well as in
CC a limited number of adult tissues.
CC -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
CC {ECO:0000305}.
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DR EMBL; U96402; AAC39544.1; -; Genomic_DNA.
DR CCDS; CCDS13757.1; -.
DR RefSeq; NP_005306.1; NM_005315.1.
DR AlphaFoldDB; O15499; -.
DR SMR; O15499; -.
DR BioGRID; 109183; 60.
DR IntAct; O15499; 57.
DR STRING; 9606.ENSP00000086933; -.
DR iPTMnet; O15499; -.
DR PhosphoSitePlus; O15499; -.
DR BioMuta; GSC2; -.
DR MassIVE; O15499; -.
DR PaxDb; O15499; -.
DR PeptideAtlas; O15499; -.
DR PRIDE; O15499; -.
DR Antibodypedia; 7476; 72 antibodies from 21 providers.
DR DNASU; 2928; -.
DR Ensembl; ENST00000086933.3; ENSP00000086933.2; ENSG00000063515.3.
DR GeneID; 2928; -.
DR KEGG; hsa:2928; -.
DR MANE-Select; ENST00000086933.3; ENSP00000086933.2; NM_005315.2; NP_005306.1.
DR UCSC; uc011ags.3; human.
DR CTD; 2928; -.
DR DisGeNET; 2928; -.
DR GeneCards; GSC2; -.
DR HGNC; HGNC:4613; GSC2.
DR HPA; ENSG00000063515; Tissue enhanced (retina, testis).
DR MIM; 601845; gene.
DR neXtProt; NX_O15499; -.
DR OpenTargets; ENSG00000063515; -.
DR PharmGKB; PA162390265; -.
DR VEuPathDB; HostDB:ENSG00000063515; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000162536; -.
DR HOGENOM; CLU_122191_0_0_1; -.
DR InParanoid; O15499; -.
DR OMA; DTRFPWP; -.
DR OrthoDB; 1270742at2759; -.
DR PhylomeDB; O15499; -.
DR TreeFam; TF351613; -.
DR PathwayCommons; O15499; -.
DR SignaLink; O15499; -.
DR BioGRID-ORCS; 2928; 22 hits in 1085 CRISPR screens.
DR GenomeRNAi; 2928; -.
DR Pharos; O15499; Tbio.
DR PRO; PR:O15499; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; O15499; protein.
DR Bgee; ENSG00000063515; Expressed in testis and 7 other tissues.
DR Genevisible; O15499; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IDA:MGI.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..205
FT /note="Homeobox protein goosecoid-2"
FT /id="PRO_0000048891"
FT DNA_BIND 126..185
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 33..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 185..205
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 47
FT /note="R -> C (in dbSNP:rs34341950)"
FT /evidence="ECO:0000269|PubMed:9441739"
FT /id="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
