ADAM32

Chr 8

ADAM metallopeptidase domain 32

NCBI Gene: 203102 ENSG00000197140 UniProt: Q8TC27 OMIM: 618602

This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.92LOEUF

pLI 0.000

Z-score 1.97

OE 0.68 (0.51–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.29Z-score

OE missense 0.96 (0.88–1.05)

346 obs / 361.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.68 (0.51–0.92)

0≤0.351.4

Missense OE?0.96 (0.88–1.05)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 30 / 44.1Missense obs/exp: 346 / 361.5Syn Z: 0.26

Background carrier burden — how many people carry a rare variant somewhere in ADAM32?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 44

1,060 rare PASS variants

Rare truncating (LoF)

1 in 490

223 rare PASS variants

Rare synonymous (reference)

1 in 83

325 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ADAM32. 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 64	1 in 310
South Asian	~43k	1 in 37	1 in 260
Remaining (unassigned)	~30k	1 in 39	1 in 370
European (Finnish)	~27k	1 in 310	1 in 260
Admixed American	~22k	1 in 48	1 in 310
African / African American	~21k	1 in 51	1 in 280
East Asian	~20k	1 in 73	1 in 630
Ashkenazi Jewish	~13k	1 in 180	1 in 710
Middle Eastern	~2,884	1 in 43	1 in 310

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.