MATN4 (matrilin 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8785
Gene name Matrilin 4
Gene symbol MATN4
Synonyms (NCBI Gene)
-
Chromosome 20
Chromosome location 20q13.12
Summary This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs730882210 C>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1133739 hsa-miR-3648 CLIP-seq
MIRT1133740 hsa-miR-3940-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15075323, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 9827539
GO:0030198 Process Extracellular matrix organization NAS 11279097
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603897 6910 ENSG00000124159
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95460
Protein name Matrilin-4
Protein function Major component of the extracellular matrix of cartilage.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 34 → 208 von Willebrand factor type A domain Domain
PF12662 cEGF 237 → 258 Complement Clr-like EGF-like Domain
PF14670 FXa_inhibition 260 → 295 Domain
PF00092 VWA 386 → 560 von Willebrand factor type A domain Domain
PF10393 Matrilin_ccoil 577 → 618 Trimeric coiled-coil oligomerisation domain of matrilin Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Embryonic kidney, lung and placenta.
Sequence
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    ECM proteoglycans
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Holoprosencephaly sequence Uncertain significance rs200891394 RCV001839285
Malignant tumor of urinary bladder Benign rs142587642 RCV005907264
MATN4-related disorder Uncertain significance; Benign; Likely benign rs776205024, rs2076023, rs2233107, rs115628315, rs2233093, rs2227275, rs2233091, rs774688188, rs111737060, rs79708482, rs781206229, rs2233106, rs2233105, rs139497051 RCV003391439
RCV003974592
RCV003979774
RCV003916872
RCV003979522
RCV003977263
RCV003911382
RCV003939386
RCV003907344
RCV003932069
RCV003956765
RCV003972871
RCV003975592
RCV003940617
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36553681
Carcinoma Renal Cell Associate 31194719
Corneal Dystrophies Hereditary Associate 22876117
Diabetic Neuropathies Associate 37033211
Lattice corneal dystrophy type 1 Associate 22876117
Osteoarthritis Associate 25575966
Plaque Amyloid Associate 22876117