Gene

matn3a

ID
ZDB-GENE-040822-21
Name
matrilin 3a
Symbol
matn3a Nomenclature History
Previous Names
  • ns:zf-e359
  • si:dkeyp-50f7.4
  • zgc:101120
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to have calcium ion binding activity. Predicted to localize to collagen-containing extracellular matrix. Is expressed in notochord; skeletal system; and vertebra. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; and osteochondrodysplasia. Orthologous to human MATN3 (matrilin 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With matn3a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Epiphyseal dysplasia, multiple, 5 607078
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type 608728
{Osteoarthritis susceptibility 2} 140600
Associated With matn3a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000742 EGF-like domain
Domain IPR002035 von Willebrand factor, type A
Domain IPR019466 Matrilin, coiled-coil trimerisation domain
Domain IPR026823 Complement Clr-like EGF domain
Homologous_superfamily IPR036337 Matrilin, coiled-coil domain superfamily
Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
Domain Details Per Protein
Protein Length Complement Clr-like EGF domain EGF-like domain Matrilin, coiled-coil domain superfamily Matrilin, coiled-coil trimerisation domain von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:F1QH94 295
UniProtKB:Q68EK6 337
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-matn3a polyclonal Rabbit
  • IHC
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations