ADAMTS16
protein-codingADAM metallopeptidase with thrombospondin type 1 motif 16, the group of ADAM metallopeptidases with thrombospondin type 1 motif
Gene summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~180.0 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 ADAMTS16 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_139056.4. 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 | 1 | 7 | 8 | |||
| missense | 187 | 7 | 1 | 195 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 1 | 191 | 14 | 1 | 207 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_620687.2 | 23 | MANE Select | |
| Ensembl | ENSP00000274181.7 | 23 | MANE Select | |
| Ensembl | ENSP00000421631.1 | 11 | Standard | |
| Ensembl | ENSP00000421631.1 | 11 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| adamts16 | Danio rerio | Structure: optic cup Quality: decreased rate abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Post-translational protein modification
- Metabolism of proteins
- Extracellular matrix organization
- Degradation of the extracellular matrix
- O-glycosylation of TSR domain-containing proteins
Biological Process
- branching involved in ureteric bud morphogenesis
- regulation of systemic arterial blood pressure
- proteolysis
- male gamete generation
- regulation of cilium assembly
Molecular Function
- metalloendopeptidase activity
- metal ion binding
Cellular Component
- extracellular region
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000274181
- Coding exons
- 23
- Length
- 179975
- Individuals with no LoFs
- 124801
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 50
- Defined
- 124851
- p
- 0.000200
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.408 | 682 | 713 | 0.957 | 0.0000420 | 7919 |
| Missense (PolyPhen) | 221 | 266.09 | 0.83055 | 2992 | ||
| Synonymous | -1.32 | 305 | 277 | 1.10 | 0.0000174 | 2362 |
| Loss of Function | 5.26 | 19 | 64.7 | 0.294 | 0.00000333 | 754 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00023 | 0.00022 | rare |
| Finnish | 0.00038 | 0.00037 | rare |
| European (Non-Finnish) | 0.00021 | 0.00021 | rare |
| South Asian | 0.00017 | 0.00016 | rare |
| Other | 0.00018 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- LoFtool
- 0.463
- RVIS EVS
- 0.68
- RVIS percentile EVS
- 84.77
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.187
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |