MATN4 (matrilin 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8785
Gene name Gene Name - the full gene name approved by the HGNC.
Matrilin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MATN4
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1133739 hsa-miR-3648 CLIP-seq
MIRT1133740 hsa-miR-3940-3p 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
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 15075323
GO:0005576 Component Extracellular region TAS
GO:0030198 Process Extracellular matrix organization TAS
GO:0062023 Component Collagen-containing extracellular matrix IBA 21873635
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
603897 6910 ENSG00000124159
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
View all (33 more)
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
Holoprosencephaly Holoprosencephaly rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040
View all (76 more)
Show/Hide Text Mining Associations (7)
Associations from Text Mining
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