CADM1

Chr 11

cell adhesion molecule 1

Also known as: BL2, IGSF4, IGSF4A, NECL2, Necl-2, RA175, ST17, SYNCAM

NCBI Gene: 23705 ENSG00000182985 UniProt: Q9BY67 OMIM: 605686

Enables identical protein binding activity and signaling receptor binding activity. Involved in several processes, including cell recognition; positive regulation of cytokine production; and susceptibility to natural killer cell mediated cytotoxicity. Located in plasma membrane. Implicated in breast carcinoma and prostate cancer. Biomarker of cervix uteri carcinoma in situ. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.44LOEUF

pLI 0.662

Z-score 3.44

OE 0.19 (0.09–0.44)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.84Z-score

OE missense 0.67 (0.59–0.77)

170 obs / 252.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.19 (0.09–0.44)

0≤0.351.4

Missense OE?0.67 (0.59–0.77)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 4 / 21.0Missense obs/exp: 170 / 252.2Syn Z: -1.17

Background carrier burden — how many people carry a rare variant somewhere in CADM1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

509 rare PASS variants

Rare truncating (LoF)

1 in 4,700

54 rare PASS variants

Rare synonymous (reference)

1 in 110

320 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CADM1. 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 230	1 in 4,100
South Asian	~43k	1 in 110	1 in 3,700
Remaining (unassigned)	~30k	1 in 150	1 in 2,400
European (Finnish)	~27k	1 in 690	1 in 1,100
Admixed American	~22k	1 in 180	1 in 1,000
African / African American	~21k	1 in 100	1 in 1,600
East Asian	~20k	1 in 150	1 in 4,000
Ashkenazi Jewish	~13k	1 in 340	1 in 2,400
Middle Eastern	~2,884	1 in 84	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.

Exome coverage (gnomAD): All 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓