GRINA

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

Basic information

Region (hg38): 8:143990056-143993415

Previous symbols: [ "NMDARA1" ]

Links

ENSG00000178719 ∙ NCBI:2907 ∙ OMIM:138251 ∙ HGNC:4589 ∙ Uniprot:Q7Z429 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GRINA gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRINA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001009184.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	2		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRINA	protein_coding	protein_coding	ENST00000313269	6	3358

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.442	0.558	125733	0	9	125742	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	153	201	0.760	0.0000117	2352
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.0000444	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.195
• hipred: Y
• hipred_score: 0.580
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.429

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Grina
• Phenotype: normal phenotype

Zebrafish Information Network

• Gene name: grinab
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: endoplasmic reticulum calcium ion homeostasis;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
• Cellular component: endoplasmic reticulum;Golgi apparatus;integral component of membrane
• Molecular function: ion channel binding