GPRC5B

Chr 16

G protein-coupled receptor class C group 5 member B

Also known as: MLC3, RAIG-2, RAIG2

This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMegalencephalic leukoencephalopathy with subcortical cysts 3
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.024
Z-score 2.19
OE 0.36 (0.190.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.32Z-score
OE missense 0.77 (0.680.86)
200 obs / 260.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.190.77)
00.351.4
Missense OE?0.77 (0.680.86)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 5 / 13.7Missense obs/exp: 200 / 260.1Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GPRC5B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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