Gene

matn3b

ID

ZDB-GENE-050221-9

Name

matrilin 3b

Symbol

matn3b Nomenclature History

Previous Names

zgc:123028

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5; osteoarthritis; and osteochondrodysplasia. Is expressed in hypochord and notochord. Orthologous to human MATN3 (matrilin 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7157032 (3 images)

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 matn3b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
multiple epiphyseal dysplasia 5	Alliance	Epiphyseal dysplasia, multiple, 5	607078
		Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type	608728
		{Osteoarthritis susceptibility 2}	140600

Associated With matn3b 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
Homologous_superfamily	IPR036337	Matrilin, coiled-coil domain superfamily
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily

Domain Details Per Protein

Protein	Length	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:Q5NIW0 InterPro	478
UniProtKB:Q5NJJ6 InterPro	343
UniProtKB:Q5NJJ7 InterPro	299
UniProtKB:B7ZD91 InterPro	434

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	matn3b-201 (1) Ensembl	Havana	1144 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	matn3b-202 (1) Ensembl	Havana	1484 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	matn3b-203 (1) Ensembl	Havana	1352 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	matn3b-204 (1) Ensembl	Havana	1099 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations