GRIP1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GRIP1 (HGNC:18708) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- glutamate receptor interacting protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 18.89(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.42(Read more about gnomAD LOEUF score)
- Cytoband
- 12q14.3
- Genomic Coordinates
-
GRCh37/hg19: chr12:66741211-67463118 NCBI Ensembl UCSC GRCh38/hg38: chr12:66347431-67069338 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001366722.1 ENST00000359742.9 (Read more about MANE Select)
- Function
- May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). {ECO:0000250|UniProtKB:P97879, ECO:0000269|PubMed:10197531}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7750
ClinGen Curation ID:
CCID:007255
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/10/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Fraser syndrome 1 Monarch
HI Evidence Comments:
Of note, Mejias et al (2011) sequenced GRIP1 in autism and matched control cohorts and identified 5 rare missense variants only in the autism cohort. Each variant was found in a single family. In 4 of 4 families tested, the variant was inherited from an unaffected parent. In vitro studies suggest the missense variants are gain-of-function. The authors conclude: "Together, these results suggest that GRIP1 variants may modify the severity of the deficits in social interactions and cognitive function in autistic patients, but are not sufficient by themselves to cause autism" (PMID: 21383172).
More recently, Vogel et al (PMID: 22510445) reported an association of recessive-type defects in the GRIP1 gene with Fraser syndrome, an autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. Homozygous loss of function mutations were shown to segregate with the disease in three unrelated families with parental consanguinity.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)