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The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GRB14 (Growth Factor Receptor Bound Protein 14) is a Protein Coding gene. Diseases associated with GRB14 include Diabetes Mellitus, Noninsulin-Dependent. Among its related pathways are Immune response IL-23 signaling pathway and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is GRB10.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J164620 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.8 | 1758 | 2.4 | HNRNPL REST ZIC2 RBFOX2 PATZ1 SP1 POLR2A ZNF600 GTF2F1 ZNF561 | HSALNG0020110 GRB14 SLC38A11 EIF3EP3 FIGN | |
GH02J164622 | Promoter | 0.8 | EPDnew | 600.7 | +0.5 | 500 | 0.1 | REST SP1 FOXA2 YY1 ZBTB33 JUND RAD21 HNF4A RXRA HNF4G | HSALNG0020110 GRB14 FIGN | |
GH02J164567 | Enhancer | 0.8 | Ensembl ENCODE | 16 | +55.0 | 54951 | 1.6 | REST SP1 CEBPA FOXA2 YY1 NR2F2 FOXA1 HNF4A RXRA MAFK | lnc-COBLL1-4 GRB14 lnc-COBLL1-5 FIGN | |
GH02J164661 | Enhancer | 0.9 | Ensembl ENCODE | 10.5 | -38.6 | -38561 | 0.2 | CEBPG TARDBP SP1 CEBPA ATF7 CEBPB CTBP1 FOXA2 ATF3 YY1 | piR-32651-006 SNORA70F ENSG00000224331 GRB14 lnc-SCN2A-8 lnc-COBLL1-1 COBLL1 | |
GH02J164560 | Enhancer | 0.5 | Ensembl | 15.5 | +61.6 | 61559 | 1.6 | GATAD2A CTCF TRIM22 RAD21 ZNF157 ZBTB25 ZSCAN9 ZGPAT | GRB14 lnc-COBLL1-4 lnc-COBLL1-5 FIGN |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | IEA | -- |
GO:0030971 | receptor tyrosine kinase binding | IPI | 16246733 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,IDA | 11278563 |
GO:0005768 | endosome | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IDA | 11278563 |
GO:0010008 | endosome membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response IL-23 signaling pathway |
Development Angiopoietin - Tie2 signaling
.38
Angiopoietin-TIE2 Signaling
.36
|
|
2 | Cell surface interactions at the vascular wall |
.01
|
|
3 | GPCR Pathway |
Breast Cancer Regulation by Stathmin1
.58
|
|
4 | nNOS Signaling in Skeletal Muscle |
Caspase Cascade
.36
|
|
5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA,TAS | 8647858 |
GO:0008286 | insulin receptor signaling pathway | IBA | 21873635 |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
GO:0046627 | negative regulation of insulin receptor signaling pathway | IMP | 16246733 |
GO:0050900 | leukocyte migration | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRB14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRB14 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRB14 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GRB14 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Grb14 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grb14 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GRB14 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GRB14 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GRB14 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grb14 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100334415 30 |
|
||
CABZ01083696.1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | pico 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mig-10 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10684 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
779408 | Benign: not provided | 164,502,282(-) | G/A | SYNONYMOUS_VARIANT | |
rs747345020 | Uncertain Significance: not specified | 164,494,433(-) | G/A | MISSENSE_VARIANT | |
rs144301087 | - | p.His507Tyr | |||
rs61748245 | - | p.Phe90Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3593219 | CNV | loss | 21293372 |
nsv473323 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diabetes mellitus, noninsulin-dependent |
|