Gene Gene information from NCBI Gene database.
Entrez ID 4146
Gene name Matrilin 1
Gene symbol MATN1
Synonyms (NCBI Gene)
CMPCRTM
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
miRNA miRNA information provided by mirtarbase database.
294
miRTarBase ID miRNA Experiments Reference
MIRT717291 hsa-miR-1252-3p HITS-CLIP 19536157
MIRT717290 hsa-miR-7-1-3p HITS-CLIP 19536157
MIRT717289 hsa-miR-7-2-3p HITS-CLIP 19536157
MIRT608329 hsa-miR-8485 HITS-CLIP 23313552
MIRT608327 hsa-miR-4789-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NFIC Repression 7730325
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0002062 Process Chondrocyte differentiation IEA
GO:0003429 Process Growth plate cartilage chondrocyte morphogenesis IEA
GO:0005201 Function Extracellular matrix structural constituent TAS 9083061
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15075323, 20729554
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
115437 6907 ENSG00000162510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF00092 VWA 41 215 von Willebrand factor type A domain Domain
PF14670 FXa_inhibition 227 262 Domain
PF00092 VWA 275 446 von Willebrand factor type A domain Domain
PF10393 Matrilin_ccoil 451 495 Trimeric coiled-coil oligomerisation domain of matrilin Coiled-coil
Sequence
Sequence length 496
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ECM proteoglycans
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 20946665
★☆☆☆☆
Found in Text Mining only
Glioma Associate 31667976
★☆☆☆☆
Found in Text Mining only
Joint Instability Associate 35896673
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Stimulate 37714866
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 31667976
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 37714866
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 35896673, 9336408
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Hip Associate 9336408
★☆☆☆☆
Found in Text Mining only
Pneumonia Associate 27508494
★☆☆☆☆
Found in Text Mining only
Scoliosis Associate 18985072
★★☆☆☆
Found in Text Mining + Unknown/Other Associations