Q9BZM3 (GSX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GS homeobox 2

Alternative name(s):
Homeobox protein GSH-2

Gene names

Name:	GSX2
Synonyms:	GSH2

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	304 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probable transcription factor that binds to the DNA sequence 5'-CNAATTAG-3' By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	forebrain dorsal/ventral pattern formation Inferred from electronic annotation. Source: Compara forebrain morphogenesis Inferred from electronic annotation. Source: Compara hindbrain morphogenesis Inferred from electronic annotation. Source: Compara neuron fate specification Inferred from electronic annotation. Source: Compara olfactory bulb interneuron differentiation Inferred from electronic annotation. Source: Compara regulation of respiratory gaseous exchange by neurological system process Inferred from electronic annotation. Source: Compara spinal cord association neuron differentiation Inferred from electronic annotation. Source: Compara subpallium neuron fate commitment 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 Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 304	304	GS homeobox 2		PRO_0000048896
Regions
	DNA binding	202 – 261	60	Homeobox
	Compositional bias	124 – 130	7	Poly-His
	Compositional bias	134 – 139	6	Poly-His
	Compositional bias	147 – 162	16	Poly-Ala
Natural variations
	Natural variant	107	1	G → S. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs13144341 [ dbSNP | Ensembl ].		VAR_049580

Sequences

	Sequence		Length	Mass (Da)
	Q9BZM3 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 2C879AC635C07F0D	FASTA	304	32,031
	10 20 30 40 50 60 MSRSFYVDSL IIKDTSRPAP SLPEPHPGPD FFIPLGMPPP LVMSVSGPGC PSRKSGAFCV 70 80 90 100 110 120 CPLCVTSHLH SSRGSVGAGS GGAGAGVTGA GGSGVAGAAG ALPLLKGQFS SAPGDAQFCP 130 140 150 160 170 180 RVNHAHHHHH PPQHHHHHHQ PQQPGSAAAA AAAAAAAAAA AALGHPQHHA PVCTATTYNV 190 200 210 220 230 240 ADPRRFHCLT MGGSDASQVP NGKRMRTAFT STQLLELERE FSSNMYLSRL RRIEIATYLN 250 260 270 280 290 300 LSEKQVKIWF QNRRVKHKKE GKGTQRNSHA GCKCVGSQVH YARSEDEDSL SPASANDDKE ISPL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human homeobox protein GSH-2." Sakai T., Sakamoto S., Nakamura K., Muraki T. Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-107.
[2]	"The sequence of the human GSH2 gene." Cools J., Marynen P. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-107.
[3]	"The genomic sequence of the human GSH-2 gene." Dauwerse H.G., Peters D.J.M., Breuning M.H. Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-107.
[4]	"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].
[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], VARIANT SER-107. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB028838 mRNA. Translation: BAB84822.1. AF306344, AF306343 Genomic DNA. Translation: AAK00880.1. AF439445 Genomic DNA. Translation: AAM08285.1. AC110298 Genomic DNA. No translation available. BC075089 mRNA. Translation: AAH75089.1. BC075090 mRNA. Translation: AAH75090.1.
IPI	IPI00001737.
RefSeq	NP_573574.1. NM_133267.2.
UniGene	Hs.371899.
3D structure databases
ProteinModelPortal	Q9BZM3.
SMR	Q9BZM3. Positions 203-260.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BZM3. 1 interaction.
MINT	MINT-7241457.
STRING	9606.ENSP00000319118.
Polymorphism databases
DMDM	296434530.
Proteomic databases
PaxDb	Q9BZM3.
PRIDE	Q9BZM3.
Protocols and materials databases
DNASU	170825.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326902; ENSP00000319118; ENSG00000180613.
GeneID	170825.
KEGG	hsa:170825.
UCSC	uc010igp.1. human.
Organism-specific databases
CTD	170825.
GeneCards	GC04P054966.
HGNC	HGNC:24959. GSX2.
neXtProt	NX_Q9BZM3.
PharmGKB	PA162390374.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264927.
HOGENOM	HOG000010106.
HOVERGEN	HBG003555.
InParanoid	Q9BZM3.
KO	K09310.
OMA	AFCVCPL.
OrthoDB	EOG48WC3H.
Gene expression databases
ArrayExpress	Q9BZM3.
Bgee	Q9BZM3.
CleanEx	HS_GSX2.
Genevestigator	Q9BZM3.
GermOnline	ENSG00000180613. 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	170825.
NextBio	89122.

Entry information

Entry name

GSX2_HUMAN

Accession

Primary (citable) accession number: Q9BZM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	May 18, 2010
Last modified:	April 3, 2013
This is version 94 of the entry and version 2 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.