GRIK2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GRIK2 (HGNC:4580) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glutamate ionotropic receptor kainate type subunit 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GLUR6
Alias symbols
GluK2, MRT6, GluR-6, EAA4, GLUK6
%HI
2.34(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.48(Read more about gnomAD LOEUF score)
Cytoband
6q16.3
Genomic Coordinates
GRCh37/hg19: chr6:101841584-102517958 NCBI Ensembl UCSC
GRCh38/hg38: chr6:101393708-102070083 NCBI Ensembl UCSC
MANE Select Transcript
NM_021956.5 ENST00000369134.9 (Read more about MANE Select)
Function
Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:28180184). Modulates cell surface expr... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36173
ClinGen Curation ID:
CCID:007251
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/05/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • intellectual disability, autosomal recessive 6 Monarch
HI Evidence Comments:
Changes in GRIK2 are associated with autosomal recessive intellectual disability.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)