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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)