Gene
GRIN2D
glutamate ionotropic receptor NMDA type subunit 2D
- HGNC 4588(opens in a new tab)
- Ensembl gene ENSG00000105464(opens in a new tab)
- NCBI Gene 2906(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.33
- Coordinates
- Chromosome 19: 48,393,668–48,444,931 (GRCh38)
- Exons
- 14 exons across 51.3 kb
- Protein
- 1,336 amino acids
- Also known as
- GluN2D, EB11, NR2D
- Previous symbols
- NMDAR2D
- MANE Select transcript
- ENST00000263269.4NM_000836.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 4 GenCC submitters rate it definitive or strong
How GRIN2D is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.5 kb of the gene's 51.3 kb; 4,011 of those bases code for the protein.
How a genome test reads GRIN2D
14
positions in GRIN2D where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 51.3 kb of GRIN2D, introns included, not only the 5.5 kb of exons.
Traits linked to GRIN2D
The Human Phenotype Ontology lists these as features of the rare conditions GRIN2D can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Epileptic encephalopathy
- Global developmental delay
- Encephalopathy
- Abnormality of coordination
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
Show 23 more traits
- Generalized-onset seizure
- Hypsarrhythmia
- Intellectual disability
- Loss of developmental milestones
- Tremor
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Impulsivity
- Involuntary movements
- Jerking
- Mental deterioration
- Unsteady walk
- Repeated seizures without recovery between them
- Absent speech development
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GRIN2D gene: glutamate ionotropic receptor NMDA type subunit 2D. Retrieved 16 October 2026, from https://dantelabs.com/genes/grin2d
Dante Labs. GRIN2D gene: glutamate ionotropic receptor NMDA type subunit 2D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/grin2d
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