MAMDC4

Chr 9

MAM domain containing 4

The protein is probably involved in sorting and selective transport of receptors and ligands across polarized epithelia. No established disease associations have been reported for mutations in this gene. The gene shows tolerance to loss-of-function variation with very low constraint scores.

OMIMResearchSummary from UniProt
LOEUF 1.33
Clinical SummaryMAMDC4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.33LOEUF
pLI 0.000
Z-score -0.71
OE 1.09 (0.911.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.84Z-score
OE missense 1.09 (1.031.16)
756 obs / 693.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.09 (0.911.33)
00.351.4
Missense OE1.09 (1.031.16)
00.61.4
Synonymous OE1.22
01.21.6
LoF obs/exp: 74 / 67.7Missense obs/exp: 756 / 693.7Syn Z: -3.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MAMDC4 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →