• 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
0.51(Read more about gnomAD pLI score)
LOEUF
0.36(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
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:
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)