GJD2-DT

Chr 15

GJD2 divergent transcript

NCBI Gene: 101928174 ENSG00000250007

Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

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LOEUF

—

Mechanism

Some data sources returned errors (1)

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 GJD2-DT?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 6,900

3 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in GJD2-DT; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 4 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
African / African American	~21k	none seen	≈ 1 in 5,200
Admixed American	~7,642	none seen	≈ 1 in 1,500
East Asian	~2,602	none seen	≈ 1 in 2,600
Remaining (unassigned)	~1,047	none seen	≈ 1 in 1,000

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.