MATN1 (matrilin 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 4146 |
| Gene name | Matrilin 1 |
| Gene symbol | MATN1 |
| Synonyms (NCBI Gene) |
CMPCRTM
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| Chromosome | 1 |
| Chromosome location | 1p35.2 |
| Summary | This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene ha |
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miRNA
miRNA information provided by mirtarbase database.
294
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Transcription factors
Transcription factors information provided by TRRUST V2 database.
1
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P21941 | |||||||||||||||||||||||||
| Protein name | Matrilin-1 (Cartilage matrix protein) | |||||||||||||||||||||||||
| Protein function | A major component of the extracellular matrix of non-articular cartilage (By similarity). Binds to type 2 collagens and forms long concatenated protein networks as part of the extracellular matrix (By similarity). Required for the network-like o | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence | ||||||||||||||||||||||||||
| Sequence length | 496 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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