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This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GRAP2 (GRB2 Related Adaptor Protein 2) is a Protein Coding gene. Diseases associated with GRAP2 include Dental Anomalies And Short Stature and Melancholia. Among its related pathways are JNK signaling in the CD4+ TCR pathway and Signaling by GPCR. 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 | IPI | 12359715 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 21179510 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | TAS,IDA | 21179510 |
GO:0005768 | endosome | IEA,IDA | 21179510 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | T cell receptor signaling pathway | ||
3 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
|
4 | ICos-ICosL Pathway in T-Helper Cell |
CD28 Signaling in T-Helper Cell
.66
|
ICos-ICosL Pathway in T-Helper Cell
.66
|
5 | CD28 co-stimulation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007265 | Ras protein signal transduction | TAS | 9878555 |
GO:0007267 | cell-cell signaling | TAS | 9878555 |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
GO:0031295 | T cell costimulation | TAS | -- |
GO:0038095 | Fc-epsilon receptor signaling pathway | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRAP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRAP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRAP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grap2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Grap2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GRAP2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GRAP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GRAP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GRAP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grap2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | grap2b 30 31 |
|
OneToMany | |
grap2a 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | drk 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sem-5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8309 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708853 | Benign: not provided | 39,968,118(+) | G/A | MISSENSE_VARIANT | |
711087 | Benign: not provided | 39,968,035(+) | C/T | INTRON_VARIANT | |
711088 | Benign: not provided | 39,969,459(+) | G/A | MISSENSE_VARIANT | |
724441 | Benign: not provided | 39,968,048(+) | C/T | MISSENSE_VARIANT | |
733012 | Benign: not provided | 39,969,521(+) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3647768 | CNV | loss | 21293372 |
nsv1131660 | CNV | deletion | 24896259 |
nsv510808 | CNV | deletion | 20534489 |
nsv834201 | CNV | gain | 17160897 |
nsv979678 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dental anomalies and short stature |
|
|
melancholia |
|
|
hypochondriasis |
|
|
parkinson disease, late-onset |
|
|