GRIP2

glutamate receptor interacting protein 2, the group of PDZ domain containing

Basic information

Region (hg38): 3:14489106-14556075

Links

ENSG00000144596 ∙ NCBI:80852 ∙ ∙ HGNC:23841 ∙ Uniprot:Q9C0E4 ∙ 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 GRIP2 gene.

• Inborn genetic diseases (19 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRIP2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in GRIP2

This is a list of pathogenic ClinVar variants found in the GRIP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-14493679-G-A		not specified	Uncertain significance (Mar 01, 2024)
3-14493710-G-T		not specified	Uncertain significance (Jun 21, 2022)
3-14494935-C-A		not specified	Uncertain significance (Oct 06, 2022)
3-14496541-G-A		not specified	Uncertain significance (Aug 12, 2021)
3-14503643-C-G		not specified	Uncertain significance (Feb 05, 2024)
3-14505625-G-A		not specified	Uncertain significance (Nov 30, 2022)
3-14505689-C-T			Likely benign (Jan 01, 2023)
3-14506824-G-A		not specified	Uncertain significance (Jan 24, 2023)
3-14506876-G-A		not specified	Uncertain significance (Dec 13, 2022)
3-14507593-G-A		not specified	Uncertain significance (Jan 02, 2024)
3-14507636-G-A		not specified	Uncertain significance (Apr 04, 2023)
3-14509910-C-A		not specified	Uncertain significance (Nov 30, 2021)
3-14509910-C-T		not specified	Uncertain significance (Jan 16, 2024)
3-14509947-C-T		not specified	Uncertain significance (Apr 12, 2022)
3-14512816-G-A		not specified	Uncertain significance (Apr 04, 2023)
3-14512854-G-A		not specified	Uncertain significance (Feb 06, 2023)
3-14514302-G-A		not specified	Uncertain significance (Jun 02, 2023)
3-14517187-G-A		not specified	Uncertain significance (Dec 16, 2023)
3-14517196-A-C		not specified	Uncertain significance (Jun 24, 2022)
3-14517196-A-G		not specified	Uncertain significance (Jan 31, 2024)
3-14520225-C-T		not specified	Uncertain significance (Nov 09, 2023)
3-14520418-G-A		not specified	Uncertain significance (Dec 09, 2023)
3-14520421-C-T		not specified	Uncertain significance (Aug 16, 2022)
3-14521712-G-A			Likely benign (Apr 01, 2022)
3-14523043-G-T		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. {ECO:0000250}.
• Pathway: Neuronal System;Trafficking of GluR2-containing AMPA receptors;Trafficking of AMPA receptors;Glutamate binding, activation of AMPA receptors and synaptic plasticity;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses (Consensus)

Recessive Scores

• pRec: 0.125

Haploinsufficiency Scores

• pHI: 0.383

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.648

Mouse Genome Informatics

• Gene name: Grip2
• Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype

Zebrafish Information Network

• Gene name: grip2a
• Affected structure: fertilized egg
• Phenotype tag: abnormal
• Phenotype quality: spatial pattern

Gene ontology

• Cellular component: cytosol;plasma membrane
• Molecular function: receptor signaling complex scaffold activity