POPDC2

Chr 3

popeye domain cAMP effector 2

Also known as: CCCM2, POP2

NCBI Gene: 64091 ENSG00000121577 UniProt: Q9HBU9

This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiac conduction disease with or without cardiomyopathy 2

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.08

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

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.08LOEUF

pLI 0.000

Z-score 1.36

OE 0.62 (0.37–1.08)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.23Z-score

OE missense 0.96 (0.85–1.08)

193 obs / 202.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.62 (0.37–1.08)

0≤0.351.4

Missense OE?0.96 (0.85–1.08)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 9 / 14.6Missense obs/exp: 193 / 202.0Syn Z: -0.46

Background carrier burden — how many people carry a rare variant somewhere in POPDC2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

493 rare PASS variants

Rare truncating (LoF)

1 in 1,000

70 rare PASS variants

Rare synonymous (reference)

1 in 250

208 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for POPDC2. 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 160	1 in 910
South Asian	~43k	1 in 83	1 in 2,400
Remaining (unassigned)	~30k	1 in 110	1 in 550
European (Finnish)	~27k	1 in 240	none seen
Admixed American	~22k	1 in 97	1 in 1,800
African / African American	~21k	1 in 69	≈ 1 in 5,400
East Asian	~20k	1 in 180	1 in 2,100
Ashkenazi Jewish	~13k	1 in 810	none seen
Middle Eastern	~2,884	1 in 110	≈ 1 in 1,400

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.

Exome coverage (gnomAD): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓