GRINA

protein-coding

glutamate ionotropic receptor NMDA type subunit associated protein 1, the group of Transmembrane BAX inhibitor motif containing

Gene summary

Predicted to enable calcium channel activity. Predicted to be involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors and negative regulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

NMDARA1

MANE transcript

NM_001009184.2

Inheritance

—

ClinVar variants

U:54B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr8:143,990,056-143,993,415

External References & Databases

Ensembl (ENSG00000178719)

Transcript & Mutation Effects

hg38 • Region Span ~3.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GRINA variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 50

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001009184.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			49 clinvar	2 clinvar		51
nonsense						0
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	54	2	0	56

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 42 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001009184.2	RefSeq	NP_001009184.1	6	MANE Select
ENST00000395068.9	Ensembl	ENSP00000378507.4	6	MANE Select
NM_000837.2	RefSeq	NP_000828.1	6	Standard
ENST00000313269.5	Ensembl	ENSP00000314380.5	6	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
grinab	Danio rerio	Structure: head Quality: morphology abnormal

Gene / Model

Organism

Observed Phenotype

grinab

Danio rerio

Structure: head

Quality: morphology

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

endoplasmic reticulum calcium ion homeostasis
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

Molecular Function

ion channel binding

Cellular Component

endoplasmic reticulum
Golgi apparatus
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000313269
Coding exons: 6
Length: 3358
Individuals with no LoFs: 125733
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 125742
p: 0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.21	153	201	0.760	0.0000117	2352
Missense (PolyPhen)		30	70.149	0.42766		799
Synonymous	-2.04	114	89.4	1.27	0.00000567	762
Loss of Function	3.13	4	18.6	0.215	0.00000106	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Potential apoptotic regulator.;

Recessive Scores

pRec: 0.138

Intolerance Scores

LoFtool: 0.599
RVIS EVS: -0.49
RVIS percentile EVS: 22.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.429

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium