MATN3 (matrilin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4148
Gene name Gene Name - the full gene name approved by the HGNC.
Matrilin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MATN3
Synonyms (NCBI Gene) Gene synonyms aliases
DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p24.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs28939677 G>T Pathogenic Coding sequence variant, missense variant
rs104893637 G>A Pathogenic Coding sequence variant, missense variant
rs104893640 C>T Pathogenic Coding sequence variant, missense variant
rs104893641 C>G Pathogenic Coding sequence variant, missense variant
rs104893645 A>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
miRTarBase ID miRNA Experiments Reference
MIRT019479 hsa-miR-148b-3p Microarray 17612493
MIRT030037 hsa-miR-26b-5p Microarray 19088304
MIRT1133736 hsa-miR-186 CLIP-seq
MIRT1133737 hsa-miR-3133 CLIP-seq
MIRT1133738 hsa-miR-633 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development TAS 9350998
GO:0005201 Function Extracellular matrix structural constituent TAS 9350998
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15075323, 16287128, 23956175, 25416956, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602109 6909 ENSG00000132031
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O15232
Protein name Matrilin-3
Protein function Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 83 → 257 von Willebrand factor type A domain Domain
PF14670 FXa_inhibition 310 → 346 Domain
PF14670 FXa_inhibition 352 → 388 Domain
PF10393 Matrilin_ccoil 439 → 483 Trimeric coiled-coil oligomerisation domain of matrilin Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.
Sequence
Sequence length 486
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
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple Epiphyseal Dysplasia multiple epiphyseal dysplasia type 5, multiple epiphyseal dysplasia rs104893645, rs397515546, rs104893637, rs28939677, rs104893641 N/A
Spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia, matrilin-3 type rs397515546, rs104893637, rs104893639 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 17881354
Cartilage Diseases Associate 18759284, 29483929
Chondroma Stimulate 18759284
Chondrosarcoma Associate 18759284
COVID 19 Associate 36012423
Disease Associate 36675026
Epiphyseal dysplasia multiple 1 Associate 29483929
Fuchs' Endothelial Dystrophy Associate 35239706
Gait Disorders Neurologic Associate 24629099
Genu Varum Associate 39293509