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Q9BZM3 (GSX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GS homeobox 2
Alternative name(s):
Homeobox protein GSH-2
Gene names
Name:GSX2
Synonyms:GSH2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length304 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processforebrain dorsal/ventral pattern formation

Inferred from electronic annotation. Source: Ensembl

forebrain morphogenesis

Inferred from electronic annotation. Source: Ensembl

hindbrain morphogenesis

Inferred from electronic annotation. Source: Ensembl

neuron fate specification

Inferred from electronic annotation. Source: Ensembl

olfactory bulb interneuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of Notch signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of oligodendrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

regulation of respiratory gaseous exchange by neurological system process

Inferred from electronic annotation. Source: Ensembl

spinal cord association neuron differentiation

Inferred from electronic annotation. Source: Ensembl

subpallium neuron fate commitment

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 304304GS homeobox 2
PRO_0000048896

Regions

DNA binding202 – 26160Homeobox
Compositional bias124 – 1307Poly-His
Compositional bias134 – 1396Poly-His
Compositional bias147 – 16216Poly-Ala

Natural variations

Natural variant1071G → S. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs13144341 [ dbSNP | Ensembl ].
VAR_049580

Sequences

Sequence LengthMass (Da)Tools
Q9BZM3 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 2C879AC635C07F0D

FASTA30432,031
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
RefSeqNP_573574.1. NM_133267.2.
UniGeneHs.371899.

3D structure databases

ProteinModelPortalQ9BZM3.
SMRQ9BZM3. Positions 203-260.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9BZM3. 1 interaction.
STRING9606.ENSP00000319118.

Polymorphism databases

DMDM296434530.

Proteomic databases

PaxDbQ9BZM3.
PRIDEQ9BZM3.

Protocols and materials databases

DNASU170825.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326902; ENSP00000319118; ENSG00000180613.
GeneID170825.
KEGGhsa:170825.
UCSCuc010igp.1. human.

Organism-specific databases

CTD170825.
GeneCardsGC04P054966.
HGNCHGNC:24959. GSX2.
neXtProtNX_Q9BZM3.
PharmGKBPA162390374.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264927.
HOGENOMHOG000010106.
HOVERGENHBG003555.
InParanoidQ9BZM3.
KOK09310.
OMAAFCVCPL.
OrthoDBEOG72C514.
PhylomeDBQ9BZM3.
TreeFamTF315938.

Gene expression databases

ArrayExpressQ9BZM3.
BgeeQ9BZM3.
CleanExHS_GSX2.
GenevestigatorQ9BZM3.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi170825.
NextBio89122.
PROQ9BZM3.

Entry information

Entry nameGSX2_HUMAN
AccessionPrimary (citable) accession number: Q9BZM3
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM