GENE REFERENCE / HGNC:18708

GRIP1

glutamate receptor interacting protein 1

protein-coding gene12q14.3Gene information

What does this gene do?

The GRIP1 gene provides instructions for making a protein that is able to attach (bind) to other proteins and is important for moving (targeting) proteins to the correct location in cells. For example, the GRIP1 protein targets two proteins called FRAS1 and FREM2 to the correct region of the cell so that they can form a group of proteins known as the FRAS/FREM complex. This complex is found in the thin, sheet-like structures (basement membranes) that separate and support the cells of many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.

In addition, the GRIP1 protein targets necessary proteins to the junctions (synapses) between nerve cells (neurons) in the brain where cell-to-cell communication occurs. GRIP1 may also be involved in the development of neurons.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Fraser syndrome 3MONDO:0054739 · Evaluated 2023-03-14	Autosomal recessive	DefinitivePrenatal Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 881
Submissions for variants in or overlapping this gene: 1,177
Submissions explicitly reporting this gene: 1,138
Alleles reported pathogenic / likely pathogenic: 60
VariationIDs with uncertain significance: 279
VariationIDs with conflicting classifications: 24

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GRIP1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 60 alleles in GRIP1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GRIP1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →