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 (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31758726		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30223390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30223390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36222159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29016808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32618493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29843929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15540222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30223390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10690529, 30223390, 8977637, 9537237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10690529, 30223390, 9537237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29016808, 31758726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33319795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10690529, 15772702, 30223390, 9537237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30223390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	23144817		★★★★★ ★☆☆☆☆ Found in Text Mining only

GBX2 (gastrulation brain homeobox 2)