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Q9BZM3

- GSX2_HUMAN

UniProt

Q9BZM3 - GSX2_HUMAN

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Protein

GS homeobox 2

Gene

GSX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

Probable transcription factor that binds to the DNA sequence 5'-CNAATTAG-3'.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi202 – 26160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. forebrain dorsal/ventral pattern formation Source: Ensembl
  2. forebrain morphogenesis Source: Ensembl
  3. hindbrain morphogenesis Source: Ensembl
  4. neuron fate specification Source: Ensembl
  5. olfactory bulb interneuron differentiation Source: Ensembl
  6. positive regulation of Notch signaling pathway Source: Ensembl
  7. positive regulation of oligodendrocyte differentiation Source: Ensembl
  8. regulation of cell migration Source: Ensembl
  9. regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
  10. regulation of transcription, DNA-templated Source: UniProtKB-KW
  11. spinal cord association neuron differentiation Source: Ensembl
  12. subpallium neuron fate commitment Source: Ensembl
  13. telencephalon regionalization Source: Ensembl
  14. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
GS homeobox 2
Alternative name(s):
Homeobox protein GSH-2
Gene namesi
Name:GSX2
Synonyms:GSH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:24959. GSX2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390374.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 304304GS homeobox 2PRO_0000048896Add
BLAST

Proteomic databases

PaxDbiQ9BZM3.
PRIDEiQ9BZM3.

Expressioni

Gene expression databases

BgeeiQ9BZM3.
CleanExiHS_GSX2.
ExpressionAtlasiQ9BZM3. baseline.
GenevestigatoriQ9BZM3.

Interactioni

Protein-protein interaction databases

IntActiQ9BZM3. 1 interaction.
STRINGi9606.ENSP00000319118.

Structurei

3D structure databases

ProteinModelPortaliQ9BZM3.
SMRiQ9BZM3. Positions 203-260.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi124 – 1307Poly-His
Compositional biasi134 – 1396Poly-His
Compositional biasi147 – 16216Poly-AlaAdd
BLAST

Sequence similaritiesi

Belongs to the Antp homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG264927.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000010106.
HOVERGENiHBG003555.
InParanoidiQ9BZM3.
KOiK09310.
OMAiAFCVCPL.
OrthoDBiEOG72C514.
PhylomeDBiQ9BZM3.
TreeFamiTF315938.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BZM3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSRSFYVDSL IIKDTSRPAP SLPEPHPGPD FFIPLGMPPP LVMSVSGPGC
60 70 80 90 100
PSRKSGAFCV CPLCVTSHLH SSRGSVGAGS GGAGAGVTGA GGSGVAGAAG
110 120 130 140 150
ALPLLKGQFS SAPGDAQFCP RVNHAHHHHH PPQHHHHHHQ PQQPGSAAAA
160 170 180 190 200
AAAAAAAAAA AALGHPQHHA PVCTATTYNV ADPRRFHCLT MGGSDASQVP
210 220 230 240 250
NGKRMRTAFT STQLLELERE FSSNMYLSRL RRIEIATYLN LSEKQVKIWF
260 270 280 290 300
QNRRVKHKKE GKGTQRNSHA GCKCVGSQVH YARSEDEDSL SPASANDDKE

ISPL
Length:304
Mass (Da):32,031
Last modified:May 18, 2010 - v2
Checksum:i2C879AC635C07F0D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071G → S.4 Publications
Corresponds to variant rs13144341 [ dbSNP | Ensembl ].
VAR_049580

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3494.1.
RefSeqiNP_573574.1. NM_133267.2.
UniGeneiHs.371899.

Genome annotation databases

EnsembliENST00000326902; ENSP00000319118; ENSG00000180613.
ENST00000611459; ENSP00000483522; ENSG00000180613.
GeneIDi170825.
KEGGihsa:170825.
UCSCiuc010igp.1. human.

Polymorphism databases

DMDMi296434530.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3494.1.
RefSeqi NP_573574.1. NM_133267.2.
UniGenei Hs.371899.

3D structure databases

ProteinModelPortali Q9BZM3.
SMRi Q9BZM3. Positions 203-260.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9BZM3. 1 interaction.
STRINGi 9606.ENSP00000319118.

Polymorphism databases

DMDMi 296434530.

Proteomic databases

PaxDbi Q9BZM3.
PRIDEi Q9BZM3.

Protocols and materials databases

DNASUi 170825.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000326902 ; ENSP00000319118 ; ENSG00000180613 .
ENST00000611459 ; ENSP00000483522 ; ENSG00000180613 .
GeneIDi 170825.
KEGGi hsa:170825.
UCSCi uc010igp.1. human.

Organism-specific databases

CTDi 170825.
GeneCardsi GC04P054966.
HGNCi HGNC:24959. GSX2.
neXtProti NX_Q9BZM3.
PharmGKBi PA162390374.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264927.
GeneTreei ENSGT00760000118940.
HOGENOMi HOG000010106.
HOVERGENi HBG003555.
InParanoidi Q9BZM3.
KOi K09310.
OMAi AFCVCPL.
OrthoDBi EOG72C514.
PhylomeDBi Q9BZM3.
TreeFami TF315938.

Miscellaneous databases

GenomeRNAii 170825.
NextBioi 89122.
PROi Q9BZM3.

Gene expression databases

Bgeei Q9BZM3.
CleanExi HS_GSX2.
ExpressionAtlasi Q9BZM3. baseline.
Genevestigatori Q9BZM3.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiGSX2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3