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MATINS
Chr 22myosin heavy chain 9
Also known as: BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA
The encoded protein is a myosin IIA heavy chain that functions in cytokinesis, cell motility, and maintenance of cell shape. Mutations cause macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, following autosomal dominant inheritance. This condition encompasses several previously described syndromes including Epstein syndrome, Sebastian syndrome, and Fechtner syndrome.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MATINS?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MATINS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools