GRAP - GRB2 related adaptor protein Gene

Homo sapiens

Also known as DFNB114

Gene ID: 10750 | Gene type: protein coding

About GRAP

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,020,656-19,051,373 (from NCBI)

This gene has 5 transcripts (splice variants), 253 orthologues, 9 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 19.4), spleen (RPKM 17.2) and 19 other tissues.

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 erythropoietin, and facilitates the formation of a stable complex with the Bcr-Abl oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]

GRAP Products(2)

mRNA	Protein	Name
NM_001330148.2	NP_001317077.1	GRB2-related adapter protein isoform 2
NM_006613.4	NP_006604.1	GRB2-related adapter protein isoform 1

GRAP Protein Structure

SH3_1

SH2

SH3_2

0
100
200
217 a.a.

Protein Preferred Names

Protein Names

GRB2-related adapter protein

growth factor receptor-bound protein 2-related adaptor protein

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 114

DFNB114	Autosomal Recessive Nonsyndromic Deafness 114
Autosomal Recessive Deafness 114	Deafness, Autosomal Recessive, 114

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Mucocele Of Salivary Gland

Ranula	Salivary Cyst
Salivary Gland Mucocele	Mucous Retention Cyst Of Salivary Gland
Retention Cyst Of Salivary Gland	Sialocele
Cyst Of Salivary Gland Or Duct	Extravasation Cyst Of Salivary Gland

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05775	GRAP Human Pre-designed siRNA Set A		/	Unkown
HY-RS05776	GRAP2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GRAP	MGD	MGI:1918770
Felis catus	GRAP	VGNC	VGNC:81198
Rattus norvegicus	GRAP	RGD	RGD:1306884

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