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

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; AllianceGenome:HGNC:4186
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
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (236161340..236168386, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (236651067..236658113, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (237073879..237077029, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

circRERE regulates the expression of GBX2 through miR-1299 and ZC3H13/N(6)-methyladenosine (m(6)A) to promote growth and invasion of hepatocellular carcinoma cells.
Title: circRERE regulates the expression of GBX2 through miR-1299 and ZC3H13/N(6)-methyladenosine (m(6)A) to promote growth and invasion of hepatocellular carcinoma cells.
NCBP3/SNHG6 inhibits GBX2 transcription in a histone modification manner to facilitate the malignant biological behaviour of glioma cells.
Title: NCBP3/SNHG6 inhibits GBX2 transcription in a histone modification manner to facilitate the malignant biological behaviour of glioma cells.
GBX2, as a tumor promoter in lung adenocarcinoma, enhances cells viability, invasion and migration by regulating the AKT/ERK signaling pathway.
Title: GBX2, as a tumor promoter in lung adenocarcinoma, enhances cells viability, invasion and migration by regulating the AKT/ERK signaling pathway.
LncRNA FEZF1-AS1 accelerates the migration and invasion of laryngeal squamous cell carcinoma cells through miR-4497 targeting GBX2.
Title: LncRNA FEZF1-AS1 accelerates the migration and invasion of laryngeal squamous cell carcinoma cells through miR-4497 targeting GBX2.
Gastrulation brain homeobox 2 (GBX2) methylation is associated with Gleason score (GS), pathologic stage (pT), and biochemical recurrence (BCR) in prostate cancer (PCa). Among intraductal carcinoma/cribriform architecture (IDC/C)-negative patients, GBX2 methylation improves prediction of BCR. Loss of TET2 in prostate cells results in greater GBX2 methylation.
Title: GBX2 Methylation Is a Novel Prognostic Biomarker and Improves Prediction of Biochemical Recurrence Among Patients with Prostate Cancer Negative for Intraductal Carcinoma and Cribriform Architecture.
The accession number for the cDNA listed for the sequence data at the bottom of page 335 on the left side is incorrect. It should read U31468 instead of U31458.
Title: Characterization and sequence analysis of the human homeobox-containing gene GBX2.
Data established a seven-gene (AR, ESR2, GATA3, GBX2, KRT16, MMP28 and WNT11) prognostic signature to define a subset of triple-negative breast cancer (TNBC).
Title: Identification of prognosis-relevant subgroups in patients with chemoresistant triple-negative breast cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors
Title: Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors.
Altered expression is associated with therapy failure and death in patients with multiple types of cancer.
Title: Microarray analysis identifies a death-from-cancer signature predicting therapy failure in patients with multiple types of cancer.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GBX2_4093 (e-PCR)
- UniSTS:462895

NoName (e-PCR)
- UniSTS:482687

NoName (e-PCR)
- UniSTS:480910

RH65560 (e-PCR)
- UniSTS:41129

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II core promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
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

General protein information

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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)

NM_001301687.2 → NP_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
NM_001485.4 → NP_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

B2RPH7, O43833, P52951, Q53RX5, Q9Y5Y1

Related

ENSP00000302251.4, ENST00000306318.5

Conserved Domains (1) summary

pfam00046
Location:250 → 303

Homeobox; Homeobox domain