Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2637
Gene name	Gastrulation brain homeobox 2
Gene symbol	GBX2
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q37.2

Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017008	hsa-miR-335-5p	Microarray	18185580
MIRT616978	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616978	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT612994	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT612993	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT612992	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT612991	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT612990	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT612989	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT612988	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT612987	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT612986	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT612985	hsa-miR-6749-3p	HITS-CLIP	23824327

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9346236
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	TAS	8838315
GO:0007411	Process	Axon guidance	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021555	Process	Midbrain-hindbrain boundary morphogenesis	IEA
GO:0021568	Process	Rhombomere 2 development	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021884	Process	Forebrain neuron development	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0030917	Process	Midbrain-hindbrain boundary development	IEA
GO:0035239	Process	Tube morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048483	Process	Autonomic nervous system development	IEA
GO:0051960	Process	Regulation of nervous system development	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601135	4186	ENSG00000168505

P52951

Protein name

Homeobox protein GBX-2 (Gastrulation and brain-specific homeobox protein 2)

Protein function

May act as a transcription factor for cell pluripotency and differentiation in the embryo.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	248 → 304	Homeodomain	Domain

Sequence

MSAAFPPSLMMMQRPLGSSTAFSIDSLIGSPPQPSPGHFVYTGYPMFMPYRPVVLPPPPP
PPPALPQAALQPALPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSASPQHQE
AAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFLAKEGSLLAFSAAETVQASLVGAVRG
QGKDESKVEDDPKGKEESFSLESDVDYSSDDNLTGQAAHKEEDPGHALEETPPSSGAAGS
TTSTGKNRRRRTAFTSEQLLELEKEFHCKKYLSLTERSQIAHALKLSEVQVKIWFQNRRA
KWKRVKAGNANSKTGEPSRNPKIVVPIPVHVSRFAIRSQHQQLEQARP

Sequence length

348

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	30223390	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	36222159	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	29016808	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	32618493	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	29016808	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30223390	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	33319795	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	30223390	★★★★★ ★☆☆☆☆ Found in Text Mining only

GBX2 (gastrulation brain homeobox 2)