Gene summary
This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
Transcript & Mutation Effects
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0014762
Submitter: G2P
Inheritance Pattern: AR
Disease ID:MONDO:0014762
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AR
Disease ID:MONDO:0014762
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0010029
Submitter: Orphanet
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_147191.1. 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 | 21 | 3 | 24 | |||
| missense | 5 | 7 | 119 | 4 | 2 | 137 |
| nonsense | 2 | 5 | 7 | |||
| start loss | 1 | 1 | 2 | |||
| frameshift | 3 | 6 | 9 | |||
| splice donor/acceptor (+/-2bp) | 1 | 1 | 2 | |||
| Total | 12 | 19 | 120 | 25 | 5 | 181 |
Highest pathogenic variant AF is 0.00018709607
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_671724.1 | 7 | MANE Select | |
| Ensembl | ENSP00000357798.3 | 7 | MANE Select | |
| Ensembl | ENSP00000498515.1 | 3 | Standard | |
| Ensembl | ENSP00000499059.1 | 4 | Standard |