GRIN2B Chromosome 12
Glutamate ionotropic receptor NMDA type subunit 2B
Upload your DNA to see your personal genotypes for variants in GRIN2B.
What This Gene Does
This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Glutamate ionotropic receptor NMDA type subunits
Locus Type
gene with protein product
Location
12p13.1
Ensembl
ENSG00000273079
Associated Conditions (31)
Developmental and epileptic encephalopathy
27
Intellectual disability
autosomal dominant 6
Inborn genetic diseases
GRIN2B-related disorder
Complex neurodevelopmental disorder
Cerebral palsy
See cases
GRIN2B-related complex neurodevelopmental disorder
Developmental delay
Atypical behavior
Autistic behavior
Seizure
Global developmental delay
Neurodevelopmental disorder
Ataxia
intellectual deficiency
Squamous cell carcinoma of the head and neck
7 conditions
+11 more conditions
Key Variants
RS1002108827
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1019298480
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy
Health Risk
RS1042339
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1168893427
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1188496776
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy
Health Risk
RS1196117849
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1214837315
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1260965687
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy
Health Risk
RS1284336148
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 6
Health Risk
RS1290922060
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1314805334
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Intellectual disability
Health Risk
RS1320154351
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 27, Developmental and epileptic encephalopathy
Health Risk
All Variants (325)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555103652 | Health Risk | Pathogenic/Likely pathogenic | 11 conditions, Intellectual disability, autosomal dominant 6 |
| RS1555103971 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Inborn genetic diseases |
| RS1555110843 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Complex neurodevelopmental disorder |
| RS1555111511 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Intellectual disability |
| RS1555112396 | Health Risk | Pathogenic/Likely pathogenic | Complex neurodevelopmental disorder, Autosomal dominant non-syndromic intellectual disability, Intellectual disability |
| RS1948652423 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS1948652687 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Intellectual disability |
| RS1948653017 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |
| RS1949321492 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS1949368959 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS2136415913 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |
| RS2497485773 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS387906636 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS672601377 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |
| RS672601378 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Inborn genetic diseases |
| RS797044849 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 6 |
| RS797044930 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 6 |
| RS869312868 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS876661041 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS876661055 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Complex neurodevelopmental disorder |
| RS876661151 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS876661167 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |
| RS879253931 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |
| RS886041095 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 6, Developmental and epileptic encephalopathy |
| RS886041295 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 27, Intellectual disability |