RAB13

Chr 1

RAB13, member RAS oncogene family

Also known as: GIG4

This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.025
Z-score 2.20
OE 0.36 (0.190.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.07Z-score
OE missense 0.72 (0.610.86)
86 obs / 119.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.190.76)
00.351.4
Missense OE?0.72 (0.610.86)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 5 / 13.8Missense obs/exp: 86 / 119.0Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAB13 · 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.

Search ClinicalTrials.gov →