GRB10 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GRB10 (HGNC:4564) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- growth factor receptor bound protein 10
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 6.48(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.37(Read more about gnomAD LOEUF score)
- Cytoband
- 7p12.1
- Genomic Coordinates
-
GRCh37/hg19: chr7:50657765-50861150 NCBI Ensembl UCSC GRCh38/hg38: chr7:50590068-50793453 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001350814.2 ENST00000401949.6 (Read more about MANE Select)
- Function
- Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1408
ClinGen Curation ID:
CCID:007246
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/23/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
A 2011 report (PMID: 20933618) of a large de novo deletion encompassing the GRB10 locus in a patient with a complex phenotype including features of Beckwith-Wiedemann syndrome (BWS) [MIM 130650] suggests that loss of GRB10 is responsible for the observed BWS features in this patient, however focal deletions of GRB10 have not yet been reported in patient populations.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There have been 2 reports (PMID: 10987657, PMID: 10631135) of patients with cytogenetically visible duplications encompassing GRB10 and features of Silver-Russell syndrome (SRS) [MIM 180860], however these duplications were not focal and the role of GRB10 in SRS is still under debate (see PMIDs: 11112662, 11313740, 11527390, 17551927).
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)