P52951 (GBX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein GBX-2

Alternative name(s):
Gastrulation and brain-specific homeobox protein 2

Gene names

Name:

GBX2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	348 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May act as a transcription factor for cell pluripotency and differentiation in the embryo.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	autonomic nervous system development Inferred from electronic annotation. Source: Compara axon guidance Inferred from electronic annotation. Source: Compara cerebellar granule cell precursor proliferation Inferred from electronic annotation. Source: Compara cerebellum development Inferred from electronic annotation. Source: Compara inner ear morphogenesis Inferred from electronic annotation. Source: Compara midbrain-hindbrain boundary morphogenesis Inferred from electronic annotation. Source: Compara nervous system development Traceable author statement Ref.1. Source: ProtInc neural crest cell migration Inferred from electronic annotation. Source: Compara patterning of blood vessels Inferred from electronic annotation. Source: Compara rhombomere 2 development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement PubMed 9346236. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 348	348	Homeobox protein GBX-2		PRO_0000048880
Regions
	DNA binding	247 – 306	60	Homeobox
	Compositional bias	56 – 63	8	Poly-Pro
	Compositional bias	121 – 124	4	Poly-Ala
	Compositional bias	248 – 251	4	Poly-Arg
Experimental info
	Sequence conflict	74 – 194	121	LPPAH…DDPKG → CRPHTLTTRSPACPQASAPA WRRAWRSPLRSWPRSPAASP RRPSTRRRQRPASSRRSRCP AAVTSTRRRRCRLTRRTAKA SWPKRARCSPSPRPRRCRLR SSGLSEGKGKTSQRWKTTRS in AAC03241. Ref.1
	Sequence conflict	216 – 237	22	QAAHK…PSSGA → PGSSQGGRPGPRGGGDPAEQ RR Ref.6

Sequences

	Sequence		Length	Mass (Da)
	P52951 [UniParc]. Last modified January 11, 2001. Version 3. Checksum: 5D31EA57B0CB07C0	FASTA	348	37,348
	10 20 30 40 50 60 MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP 70 80 90 100 110 120 PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE 130 140 150 160 170 180 AAAARKFAPQ PLPGGGNFDK AEALQADAED GKGFLAKEGS LLAFSAAETV QASLVGAVRG 190 200 210 220 230 240 QGKDESKVED DPKGKEESFS LESDVDYSSD DNLTGQAAHK EEDPGHALEE TPPSSGAAGS 250 260 270 280 290 300 TTSTGKNRRR RTAFTSEQLL ELEKEFHCKK YLSLTERSQI AHALKLSEVQ VKIWFQNRRA 310 320 330 340 KWKRVKAGNA NSKTGEPSRN PKIVVPIPVH VSRFAIRSQH QQLEQARP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization and sequence analysis of the human homeobox-containing gene GBX2." Lin X., Swaroop A., Vaccarino F.M., Murtha M.T., Haas M., Ji X., Ruddle F.H., Leckman J.F. Genomics 31:335-342(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Brain.
[2]	"Enhanced GBX2 expression induces the growth of human prostate cancer cells via transcriptional stimulation of the interleukin-6 gene." Gao A.C., Lou W., Isaacs J.T. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans." Matsui T., Hirai M., Hirano M., Kurosawa Y. FEBS Lett. 336:107-110(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 216-348.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U31468 Genomic DNA. Translation: AAC03241.1. AF118452 mRNA. Translation: AAD39907.1. AC079135 Genomic DNA. Translation: AAX93240.1. CH471063 Genomic DNA. Translation: EAW71084.1. BC137448 mRNA. Translation: AAI37449.1. BC137449 mRNA. Translation: AAI37450.1. U02080 Genomic DNA. Translation: AAA17406.1.
IPI	IPI00006053.
PIR	S39540.
RefSeq	NP_001476.2. NM_001485.2.
UniGene	Hs.184945.
3D structure databases
ProteinModelPortal	P52951.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000302251.
PTM databases
PhosphoSite	P52951.
Polymorphism databases
DMDM	12644308.
Proteomic databases
PaxDb	P52951.
PRIDE	P52951.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306318; ENSP00000302251; ENSG00000168505.
GeneID	2637.
KEGG	hsa:2637.
UCSC	uc002vvw.1. human.
Organism-specific databases
CTD	2637.
GeneCards	GC02M237090.
HGNC	HGNC:4186. GBX2.
MIM	601135. gene.
neXtProt	NX_P52951.
PharmGKB	PA28600.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG315879.
HOGENOM	HOG000060099.
HOVERGEN	HBG003967.
InParanoid	P52951.
KO	K09321.
OMA	HQEAARK.
OrthoDB	EOG4N5VXB.
PhylomeDB	P52951.
Gene expression databases
ArrayExpress	P52951.
Bgee	P52951.
CleanEx	HS_GBX2.
Genevestigator	P52951.
GermOnline	ENSG00000168505. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	2637.
NextBio	10396.
SOURCE	Search...

Entry information

Entry name

GBX2_HUMAN

Accession

Primary (citable) accession number: P52951
Secondary accession number(s): B2RPH7 , O43833, Q53RX5, Q9Y5Y1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 11, 2001
Last modified:	May 1, 2013
This is version 107 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.