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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 (GRB2 Related Adaptor Protein) is a Protein Coding gene. Diseases associated with GRAP include Deafness, Autosomal Recessive 114 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is GRB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
GO:0005515 | protein binding | IEA,IPI | 25036101 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | TAS | 8647802 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007265 | Ras protein signal transduction | TAS | 8647802 |
GO:0007267 | cell-cell signaling | TAS | 8647802 |
GO:0007605 | sensory perception of sound | IDA | 30610177 |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | GRAP 30 |
|
||
Cow (Bos Taurus) |
Mammalia | GRAP 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Grap 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grap 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | GRAP 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100127598 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | grapa 30 31 |
|
ManyToMany | |
grapb 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | drk 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sem-5 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8309 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769911 | Likely Benign: not provided | 19,041,812(-) | G/A | SYNONYMOUS_VARIANT | |
rs370564476 | Likely Pathogenic: DEAFNESS, AUTOSOMAL RECESSIVE 114. Deafness, autosomal recessive, 114 (DFNB114) [MIM:618456] | 19,024,372(-) | T/Ap.Gln104Leu | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1700e59 | CNV | duplication | 20981092 |
dgv3116n100 | CNV | gain | 25217958 |
dgv895e212 | CNV | loss | 25503493 |
esv25927 | CNV | gain+loss | 19812545 |
esv2758678 | CNV | gain+loss | 17122850 |
esv33572 | CNV | gain | 17666407 |
esv3387737 | CNV | duplication | 20981092 |
esv3398141 | CNV | duplication | 20981092 |
esv3444578 | CNV | duplication | 20981092 |
esv3892975 | CNV | loss | 25118596 |
esv3892976 | CNV | loss | 25118596 |
nsv428336 | CNV | gain+loss | 18775914 |
nsv574554 | CNV | loss | 21841781 |
nsv7291 | OTHER | inversion | 18451855 |
nsv833391 | CNV | loss | 17160897 |
nsv9504 | CNV | gain+loss | 18304495 |
nsv953842 | CNV | deletion | 24416366 |
nsv960071 | CNV | duplication | 23825009 |
nsv962282 | CNV | duplication | 23825009 |
nsv962450 | CNV | duplication | 23825009 |
nsv978383 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 114 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
mucocele of salivary gland |
|
|
sensorineural hearing loss |
|
|