RMDN3

Chr 15

regulator of microtubule dynamics 3

Also known as: FAM82A2, FAM82C, RMD-3, RMD3, ptpip51

NCBI Gene: 55177 ENSG00000137824 UniProt: Q96TC7

Enables microtubule binding activity. Involved in intracellular calcium ion homeostasis. Located in several cellular components, including intercellular bridge; mitochondrial outer membrane; and spindle. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RMDN3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

693 rare PASS variants

Rare truncating (LoF)

1 in 850

135 rare PASS variants

Rare synonymous (reference)

1 in 380

262 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RMDN3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 1,100
South Asian	~43k	1 in 89	1 in 1,300
Remaining (unassigned)	~30k	1 in 120	1 in 900
European (Finnish)	~27k	1 in 250	1 in 450
Admixed American	~22k	1 in 66	1 in 1,400
African / African American	~21k	1 in 65	1 in 580
East Asian	~20k	1 in 76	1 in 840
Ashkenazi Jewish	~13k	1 in 520	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 86	≈ 1 in 2,800

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.