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GBX2 gastrulation brain homeobox 2 [ Homo sapiens (human) ]

Gene ID: 2637, updated on 23-Nov-2021

Summary

Official Symbol
GBX2provided by HGNC
Official Full Name
gastrulation brain homeobox 2provided by HGNC
Primary source
HGNC:HGNC:4186
See related
Ensembl:ENSG00000168505 MIM:601135
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
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GBX2 in Genome Data Viewer
Location:
2q37.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (236165236..236168386, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (237073879..237077029, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Neighboring gene RNA, 7SL, cytoplasmic 204, pseudogene Neighboring gene translation initiation factor IF-2 Neighboring gene VISTA enhancer hs249 Neighboring gene Sharpr-MPRA regulatory region 4909 Neighboring gene Sharpr-MPRA regulatory region 229

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
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in autonomic nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in branching involved in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellar granule cell precursor proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
 
involved_in forebrain neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in midbrain-hindbrain boundary morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in rhombomere 2 development IEA
Inferred from Electronic Annotation
more info
 
involved_in thalamus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
homeobox protein GBX-2
Names
gastrulation and brain-specific homeobox protein 2

NCBI Reference Sequences (RefSeq)

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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_001301687.2NP_001288616.1  homeobox protein GBX-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA176205, AC079135, BC144646, BE463746, BF115559
    Consensus CDS
    CCDS77545.1
    UniProtKB/TrEMBL
    F8VY47
    Related
    ENSP00000448747.1, ENST00000551105.1
  2. NM_001485.4NP_001476.2  homeobox protein GBX-2 isoform 1

    See identical proteins and their annotated locations for NP_001476.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA176205, AC079135, BC137448, BE463746, BF115559
    Consensus CDS
    CCDS2515.1
    UniProtKB/Swiss-Prot
    P52951
    Related
    ENSP00000302251.4, ENST00000306318.5
    Conserved Domains (1) summary
    pfam00046
    Location:250303
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    236165236..236168386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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