GBX2_HUMAN
ID GBX2_HUMAN Reviewed; 348 AA.
AC P52951; B2RPH7; O43833; Q53RX5; Q9Y5Y1;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2001, sequence version 3.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=Homeobox protein GBX-2;
DE AltName: Full=Gastrulation and brain-specific homeobox protein 2;
GN Name=GBX2;
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].
RC TISSUE=Brain;
RX PubMed=8838315; DOI=10.1006/geno.1996.0056;
RA Lin X., Swaroop A., Vaccarino F.M., Murtha M.T., Haas M., Ji X.,
RA Ruddle F.H., Leckman J.F.;
RT "Characterization and sequence analysis of the human homeobox-containing
RT gene GBX2.";
RL Genomics 31:335-342(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Gao A.C., Lou W., Isaacs J.T.;
RT "Enhanced GBX2 expression induces the growth of human prostate cancer cells
RT via transcriptional stimulation of the interleukin-6 gene.";
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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].
RC TISSUE=Brain;
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 216-348.
RX PubMed=7903253; DOI=10.1016/0014-5793(93)81620-f;
RA Matsui T., Hirai M., Hirano M., Kurosawa Y.;
RT "The HOX complex neighbored by the EVX gene, as well as two other homeobox-
RT containing genes, the GBX-class and the EN-class, are located on the same
RT chromosomes 2 and 7 in humans.";
RL FEBS Lett. 336:107-110(1993).
CC -!- FUNCTION: May act as a transcription factor for cell pluripotency and
CC differentiation in the embryo.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
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DR EMBL; U31468; AAC03241.1; -; Genomic_DNA.
DR EMBL; AF118452; AAD39907.1; -; mRNA.
DR EMBL; AC079135; AAX93240.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW71084.1; -; Genomic_DNA.
DR EMBL; BC137448; AAI37449.1; -; mRNA.
DR EMBL; BC137449; AAI37450.1; -; mRNA.
DR EMBL; U02080; AAA17406.1; -; Genomic_DNA.
DR CCDS; CCDS2515.1; -.
DR PIR; S39540; S39540.
DR RefSeq; NP_001476.2; NM_001485.3.
DR AlphaFoldDB; P52951; -.
DR SMR; P52951; -.
DR BioGRID; 108907; 5.
DR STRING; 9606.ENSP00000302251; -.
DR iPTMnet; P52951; -.
DR PhosphoSitePlus; P52951; -.
DR BioMuta; GBX2; -.
DR DMDM; 12644308; -.
DR EPD; P52951; -.
DR MassIVE; P52951; -.
DR MaxQB; P52951; -.
DR PaxDb; P52951; -.
DR PeptideAtlas; P52951; -.
DR PRIDE; P52951; -.
DR ProteomicsDB; 56561; -.
DR Antibodypedia; 20253; 330 antibodies from 35 providers.
DR DNASU; 2637; -.
DR Ensembl; ENST00000306318.5; ENSP00000302251.4; ENSG00000168505.7.
DR GeneID; 2637; -.
DR KEGG; hsa:2637; -.
DR MANE-Select; ENST00000306318.5; ENSP00000302251.4; NM_001485.4; NP_001476.2.
DR UCSC; uc002vvw.2; human.
DR CTD; 2637; -.
DR DisGeNET; 2637; -.
DR GeneCards; GBX2; -.
DR HGNC; HGNC:4186; GBX2.
DR HPA; ENSG00000168505; Tissue enriched (brain).
DR MIM; 601135; gene.
DR neXtProt; NX_P52951; -.
DR OpenTargets; ENSG00000168505; -.
DR PharmGKB; PA28600; -.
DR VEuPathDB; HostDB:ENSG00000168505; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000154365; -.
DR HOGENOM; CLU_052189_0_0_1; -.
DR InParanoid; P52951; -.
DR OMA; QPSLMMM; -.
DR OrthoDB; 1406210at2759; -.
DR PhylomeDB; P52951; -.
DR TreeFam; TF351530; -.
DR PathwayCommons; P52951; -.
DR BioGRID-ORCS; 2637; 22 hits in 1096 CRISPR screens.
DR GeneWiki; GBX2; -.
DR GenomeRNAi; 2637; -.
DR Pharos; P52951; Tbio.
DR PRO; PR:P52951; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P52951; protein.
DR Bgee; ENSG00000168505; Expressed in putamen and 28 other tissues.
DR ExpressionAtlas; P52951; baseline and differential.
DR Genevisible; P52951; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IEA:Ensembl.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048483; P:autonomic nervous system development; IEA:Ensembl.
DR GO; GO:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IEA:Ensembl.
DR GO; GO:0021930; P:cerebellar granule cell precursor proliferation; IEA:Ensembl.
DR GO; GO:0021549; P:cerebellum development; IEA:Ensembl.
DR GO; GO:0021884; P:forebrain neuron development; IEA:Ensembl.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0021555; P:midbrain-hindbrain boundary morphogenesis; IEA:Ensembl.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0001755; P:neural crest cell migration; IEA:Ensembl.
DR GO; GO:0051960; P:regulation of nervous system development; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021568; P:rhombomere 2 development; IEA:Ensembl.
DR GO; GO:0021794; P:thalamus development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR042982; GBX-1/2.
DR InterPro; IPR031250; GBX-2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR PANTHER; PTHR24334; PTHR24334; 1.
DR PANTHER; PTHR24334:SF3; PTHR24334:SF3; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..348
FT /note="Homeobox protein GBX-2"
FT /id="PRO_0000048880"
FT DNA_BIND 247..306
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 59..81
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 111..139
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 179..251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 182..202
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 234..249
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 74..194
FT /note="LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSASPQHQEAAAAR
FT KFAPQPLPGGGNFDKAEALQADAEDGKGFLAKEGSLLAFSAAETVQASLVGAVRGQGKD
FT ESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAASPRRPST
FT RRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAKASWPKRARCSPSPRPRRCRLRSSGL
FT SEGKGKTSQRWKTTRS (in Ref. 1; AAC03241)"
FT /evidence="ECO:0000305"
FT CONFLICT 216..237
FT /note="QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGGDPAEQRR (in
FT Ref. 6)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 348 AA; 37348 MW; 5D31EA57B0CB07C0 CRC64;
MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP
PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE
AAAARKFAPQ PLPGGGNFDK AEALQADAED GKGFLAKEGS LLAFSAAETV QASLVGAVRG
QGKDESKVED DPKGKEESFS LESDVDYSSD DNLTGQAAHK EEDPGHALEE TPPSSGAAGS
TTSTGKNRRR RTAFTSEQLL ELEKEFHCKK YLSLTERSQI AHALKLSEVQ VKIWFQNRRA
KWKRVKAGNA NSKTGEPSRN PKIVVPIPVH VSRFAIRSQH QQLEQARP
