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 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 notochord; skeletal system; and vertebra. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7148317 (4 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 matn3a 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 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
Family	IPR050525	Extracellular Matrix Assembly and Organization
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	Extracellular Matrix Assembly and Organization	Matrilin, coiled-coil domain superfamily	Matrilin, coiled-coil trimerisation domain	von Willebrand factor A-like domain superfamily	von Willebrand factor, type A
UniProtKB:F1QH94 InterPro	295
UniProtKB:Q68EK6 InterPro	337

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	matn3a-201 (1) Ensembl	Ensembl	1,463 nt	Select Tool
mRNA	matn3a-202 (1) Ensembl	Ensembl	1,414 nt	Select Tool ZFIN BLAST
mRNA	matn3a-203 (1) Ensembl	Ensembl	1,954 nt	Select Tool
mRNA	matn3a-204 (1) Ensembl	Ensembl	1,974 nt	Select Tool
mRNA	matn3a-205 (1) Ensembl	Ensembl	740 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-matn3a	polyclonal	matn3a		Rabbit	IHC		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations