C2CD4A

Chr 15

C2 calcium dependent domain containing 4A

Also known as: FAM148A, NLF1

NCBI Gene: 145741 ENSG00000198535 UniProt: Q8NCU7 OMIM: 610343

Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in C2CD4A?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 74

661 rare PASS variants

Rare truncating (LoF)

1 in 1,600

84 rare PASS variants

Rare synonymous (reference)

1 in 220

321 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C2CD4A. 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 110	1 in 1,900
South Asian	~43k	1 in 57	1 in 810
Remaining (unassigned)	~30k	1 in 79	1 in 2,300
European (Finnish)	~26k	1 in 290	≈ 1 in 6,800
Admixed American	~22k	1 in 68	1 in 1,000
African / African American	~21k	1 in 98	1 in 1,400
East Asian	~20k	1 in 96	1 in 1,500
Ashkenazi Jewish	~13k	1 in 260	1 in 1,900
Middle Eastern	~2,884	1 in 50	≈ 1 in 2,300

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.