GRAP - GRB2 related adaptor protein Gene

Also Known as DFNB114

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10750

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25036101	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in sensory perception of sound	IDA IDA: Inferred from direct assay	30610177	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

GRAP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GRAP	Q13588	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	GRAP	Q13588	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	GRAP	Q13588	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	GRAP	Q13588	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	GRAP	Q13588	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	GRAP	Q13588	DPPA4	Homo sapiens	Q7L190	Validated Y2H	32296183
Intra	GRAP	Q13588	DPPA4	Homo sapiens	Q7L190	Y2H Array	32296183
Intra	GRAP	Q13588	DPPA4	Homo sapiens	Q7L190	Y2H Prey Pooling	32296183
Intra	GRAP	Q13588	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	GRAP	Q13588	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	GRAP	Q13588	TRIM21	Homo sapiens	P19474	Y2H Prey Pooling	25416956
Intra	GRAP	Q13588	TRIM21	Homo sapiens	P19474	Y2H Prey Pooling	32296183
Intra	GRAP	Q13588	TRIM21	Homo sapiens	P19474	Y2H Array	25416956
Intra	GRAP	Q13588	TRIM21	Homo sapiens	P19474	Y2H Array	32296183
Intra	GRAP	Q13588	TOX	Homo sapiens	O94900	Y2H Prey Pooling	32296183
Intra	GRAP	Q13588	TOX	Homo sapiens	O94900	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

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