Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	10750
Gene name	GRB2 related adaptor protein
Gene symbol	GRAP
Synonyms (NCBI Gene)	DFNB114
Chromosome	17
Chromosome location	17p11.2
Summary	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

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

60 Show/Hide all (60)

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

19 Show/Hide all (19)

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

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
PF00017	SH2	60 → 135	SH2 domain	Domain
PF00018	SH3_1	4 → 50	SH3 domain	Domain
PF00018	SH3_1	164 → 209	SH3 domain	Domain

Sequence

MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPW
YSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNYGDQVQHFKVLREASGKYFL
WEEKFNSLNELVDFYRTTTIAKKRQIFLRDEEPLLKSPGACFAQAQFDFSAQDPSQLSFR
RGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL

Sequence length

217

Interactions

View interactions

Reactome Pathway
Signaling by SCF-KIT

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal recessive 114	Likely pathogenic	rs370564476	RCV000782131	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (7)
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 114	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAP-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	30610177	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19836472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35285582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17508271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	30610177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30610177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29364705		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MPZL2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	5	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CLRN2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
EPS8L2	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ROR1	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
BDP1	3	["Isolated sensorineural deafness","Deafness","nonsyndromic genetic hearing loss"]	[]	6	["Disgenet (Isolated sensorineural deafness)","Disgenet (Deafness)","HPO (Deafness)","CTD (Hearing loss)","ClinVar (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

GRAP (GRB2 related adaptor protein)

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