Format

Send to:

Choose Destination

GSX2 GS homeobox 2 [ Homo sapiens (human) ]

Gene ID: 170825, updated on 13-Mar-2020

Summary

Official Symbol
GSX2provided by HGNC
Official Full Name
GS homeobox 2provided by HGNC
Primary source
HGNC:HGNC:24959
See related
Ensembl:ENSG00000180613 MIM:616253
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSH2; DMJDS2
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GSX2 in Genome Data Viewer
Location:
4q12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (54100163..54102498)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54966248..54968122)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 2 pseudogene 1 Neighboring gene VISTA enhancer hs678 Neighboring gene ribosomal protein L22 pseudogene 13 Neighboring gene platelet derived growth factor receptor alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2
MedGen: CN262579 OMIM: 618646 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
forebrain dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hindbrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb interneuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
regulation of respiratory gaseous exchange by neurological system process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
subpallium neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
telencephalon regionalization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
GS homeobox 2
Names
genetic-screened homeobox 2
homeobox protein GSH-2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_133267.3NP_573574.2  GS homeobox 2

    Status: VALIDATED

    Source sequence(s)
    AC110298
    Consensus CDS
    CCDS3494.1
    Related
    ENSP00000319118.2, ENST00000326902.7
    Conserved Domains (1) summary
    pfam00046
    Location:206258
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    54100163..54102498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center