C2CD4B

Chr 15

C2 calcium dependent domain containing 4B

Also known as: FAM148B, NLF2

NCBI Gene: 388125 ENSG00000205502 UniProt: A6NLJ0 OMIM: 610344

Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Predicted to be located in nucleus. [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

1.94

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.000

Z-score -1.06

OE 1.66 (0.75–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.01Z-score

OE missense 1.00 (0.86–1.18)

105 obs / 104.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.66 (0.75–1.94)

0≤0.351.4

Missense OE?1.00 (0.86–1.18)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 5 / 3.0Missense obs/exp: 105 / 104.6Syn Z: -0.80

Background carrier burden — how many people carry a rare variant somewhere in C2CD4B?

gnomAD v4 · ~725k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 67

710 rare PASS variants

Rare truncating (LoF)

1 in 860

85 rare PASS variants

Rare synonymous (reference)

1 in 210

378 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C2CD4B. 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)	~554k	1 in 97	1 in 2,100
South Asian	~42k	1 in 69	1 in 580
Remaining (unassigned)	~30k	1 in 53	1 in 790
European (Finnish)	~24k	1 in 200	1 in 1,100
Admixed American	~22k	1 in 53	1 in 390
African / African American	~21k	1 in 60	1 in 920
East Asian	~20k	1 in 58	1 in 1,000
Ashkenazi Jewish	~13k	1 in 170	≈ 1 in 10,000
Middle Eastern	~2,876	1 in 62	≈ 1 in 710

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): 0 of 1 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 1.? see exons ↓