C2CD2L

Chr 11

C2CD2 like

Also known as: DLNB23, TMEM24

NCBI Gene: 9854 ENSG00000172375 UniProt: O14523 OMIM: 617582

Enables phosphatidylinositol binding activity and phosphatidylinositol transfer activity. Involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cortical endoplasmic reticulum; cytoplasmic side of apical plasma membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in C2CD2L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 64

881 rare PASS variants

Rare truncating (LoF)

1 in 3,600

67 rare PASS variants

Rare synonymous (reference)

1 in 130

389 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C2CD2L. 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 86	1 in 4,900
South Asian	~43k	1 in 60	≈ 1 in 13,000
Remaining (unassigned)	~30k	1 in 70	≈ 1 in 28,000
European (Finnish)	~27k	1 in 220	≈ 1 in 5,600
Admixed American	~22k	1 in 64	1 in 3,700
African / African American	~21k	1 in 55	1 in 2,100
East Asian	~20k	1 in 81	1 in 1,800
Ashkenazi Jewish	~13k	1 in 660	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 56	none seen

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.