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  2. GRAP - GRB2 related adaptor protein Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25036101 GOA
Biological Process GO Annotation Evidence Reference 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

SH3_1: SH3 domain (4 - 49)

SH2

SH2: SH2 domain (60 - 135)

SH3_2

SH3_2: Variant SH3 domain (163 - 215)

  • 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 Reference
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

Orthologs Information

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