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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10750
Gene name Gene Name - the full gene name approved by the HGNC.	GRB2 related adaptor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GRAP
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB114
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoiet

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SNP ID	Visualize variation	Clinical significance	Consequence
rs370564476	T>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT1032951	hsa-miR-125a-5p	CLIP-seq
MIRT1032952	hsa-miR-125b	CLIP-seq
MIRT1032953	hsa-miR-183	CLIP-seq
MIRT1032954	hsa-miR-188-5p	CLIP-seq
MIRT1032955	hsa-miR-2681	CLIP-seq
MIRT1032956	hsa-miR-3929	CLIP-seq
MIRT1032957	hsa-miR-4319	CLIP-seq
MIRT1032958	hsa-miR-4419b	CLIP-seq
MIRT1032959	hsa-miR-4478	CLIP-seq
MIRT1032960	hsa-miR-4663	CLIP-seq
MIRT1032961	hsa-miR-4732-3p	CLIP-seq
MIRT1032962	hsa-miR-485-5p	CLIP-seq
MIRT1032963	hsa-miR-622	CLIP-seq
MIRT1032964	hsa-miR-670	CLIP-seq
MIRT1032965	hsa-miR-767-3p	CLIP-seq
MIRT1921474	hsa-miR-1249	CLIP-seq
MIRT1921475	hsa-miR-1470	CLIP-seq
MIRT1921476	hsa-miR-4290	CLIP-seq
MIRT1921477	hsa-miR-4469	CLIP-seq
MIRT1921478	hsa-miR-4667-3p	CLIP-seq
MIRT2006448	hsa-miR-1203	CLIP-seq
MIRT2006449	hsa-miR-1258	CLIP-seq
MIRT2006450	hsa-miR-1827	CLIP-seq
MIRT2006451	hsa-miR-2682	CLIP-seq
MIRT2006452	hsa-miR-28-5p	CLIP-seq
MIRT2006453	hsa-miR-3139	CLIP-seq
MIRT2006454	hsa-miR-326	CLIP-seq
MIRT2006455	hsa-miR-330-5p	CLIP-seq
MIRT2006456	hsa-miR-3612	CLIP-seq
MIRT2006457	hsa-miR-4266	CLIP-seq
MIRT2006458	hsa-miR-449c	CLIP-seq
MIRT2006459	hsa-miR-4633-3p	CLIP-seq
MIRT2006460	hsa-miR-4743	CLIP-seq
MIRT2006461	hsa-miR-650	CLIP-seq
MIRT2006462	hsa-miR-671-5p	CLIP-seq
MIRT2006463	hsa-miR-708	CLIP-seq
MIRT2238912	hsa-miR-105	CLIP-seq
MIRT2238913	hsa-miR-146b-3p	CLIP-seq
MIRT2238914	hsa-miR-150	CLIP-seq
MIRT1032956	hsa-miR-3929	CLIP-seq
MIRT2238915	hsa-miR-4419a	CLIP-seq
MIRT1032958	hsa-miR-4419b	CLIP-seq
MIRT1032959	hsa-miR-4478	CLIP-seq
MIRT2238916	hsa-miR-4510	CLIP-seq
MIRT1032960	hsa-miR-4663	CLIP-seq
MIRT2238917	hsa-miR-4731-5p	CLIP-seq
MIRT1032962	hsa-miR-485-5p	CLIP-seq
MIRT1032963	hsa-miR-622	CLIP-seq
MIRT2450717	hsa-miR-1285	CLIP-seq
MIRT2450718	hsa-miR-1291	CLIP-seq
MIRT2450719	hsa-miR-3155	CLIP-seq
MIRT2450720	hsa-miR-3155b	CLIP-seq
MIRT2450721	hsa-miR-3187-5p	CLIP-seq
MIRT2006454	hsa-miR-326	CLIP-seq
MIRT2006455	hsa-miR-330-5p	CLIP-seq
MIRT2450722	hsa-miR-378g	CLIP-seq
MIRT2450723	hsa-miR-4486	CLIP-seq
MIRT2450724	hsa-miR-484	CLIP-seq
MIRT2450725	hsa-miR-612	CLIP-seq
MIRT2450726	hsa-miR-760	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001784	Function	Phosphotyrosine residue binding	IBA
GO:0005154	Function	Epidermal growth factor receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	25036101, 25416956, 32296183, 32814053
GO:0005654	Component	Nucleoplasm	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	8647802
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	TAS	8647802
GO:0007267	Process	Cell-cell signaling	TAS	8647802
GO:0007605	Process	Sensory perception of sound	IDA	30610177
GO:0008180	Component	COP9 signalosome	IBA
GO:0016020	Component	Membrane	IEA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0045202	Component	Synapse	IEA
GO:0098793	Component	Presynapse	ISS

MIM	HGNC	e!Ensembl
604330	4562	ENSG00000154016

Protein

UniProt ID

Q13588

Protein name

GRB2-related adapter protein

Protein function

Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing (PubMed:30610177).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	4 → 50	SH3 domain	Domain
PF00017	SH2	60 → 135	SH2 domain	Domain
PF00018	SH3_1	164 → 209	SH3 domain	Domain

Sequence

MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPW
YSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNYGDQVQHFKVLREASGKYFL
WEEKFNSLNELVDFYRTTTIAKKRQIFLRDEEPLLKSPGACFAQAQFDFSAQDPSQLSFR
RGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL

Sequence length

217

Interactions

View interactions

	Reactome
			Signaling by SCF-KIT

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hearing Loss	Hearing loss, autosomal recessive 114	rs370564476	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Glioma	Associate	35285582

GRAP (GRB2 related adaptor protein)