ADAM32
protein-codingADAM metallopeptidase domain 32, the group of ADAM metallopeptidase domain containing
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~177.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ADAM32 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_145004.7. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 104 | 13 | 117 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 106 | 16 | 0 | 122 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_659441.4 | 25 | MANE Select | |
| Ensembl | ENSP00000369238.4 | 25 | MANE Select | |
| RefSeq | NP_001300923.1 | 22 | Standard | |
| Ensembl | ENSP00000382727.3 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- proteolysis
Molecular Function
- metalloendopeptidase activity
Cellular Component
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000379907
- Coding exons
- 25
- Length
- 177922
- Individuals with no LoFs
- 124575
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 50
- Defined
- 124626
- p
- 0.000205
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.289 | 346 | 361 | 0.957 | 0.0000177 | 5118 |
| Missense (PolyPhen) | 98 | 121.14 | 0.80901 | 1788 | ||
| Synonymous | 0.265 | 120 | 124 | 0.970 | 0.00000657 | 1382 |
| Loss of Function | 1.97 | 30 | 44.1 | 0.680 | 0.00000212 | 654 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00015 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000056 | 0.000056 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00020 | 0.00019 | rare |
| South Asian | 0.00068 | 0.00062 | rare |
| Other | 0.00066 | 0.00066 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0756
Intolerance Scores
- RVIS EVS
- 0.38
- RVIS percentile EVS
- 75.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0571
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |