Gene

col12a1a

ID

ZDB-GENE-090728-1

Name

collagen, type XII, alpha 1a

Symbol

col12a1a Nomenclature History

Previous Names

col12a1
fa99f12
wu:fa99f12

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Involved in regeneration and regulation of axon regeneration. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Is expressed in several structures, including immature eye; integument; myoseptum; nervous system; and trunk vasculature. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

20 figures from 9 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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 col12a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Ullrich congenital muscular dystrophy 2	Alliance	?Ullrich congenital muscular dystrophy 2	616470
		Bethlem myopathy 2	616471

Associated With col12a1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002035	von Willebrand factor, type A
Domain	IPR003961	Fibronectin type III
Domain	IPR048287	Thrombospondin-like, N-terminal domain
Family	IPR050525	Extracellular Matrix Assembly and Organization
Homologous_superfamily	IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Length	Collagen triple helix repeat	Concanavalin A-like lectin/glucanase domain superfamily	Extracellular Matrix Assembly and Organization	Fibronectin type III	Fibronectin type III superfamily	Immunoglobulin-like fold	Thrombospondin-like, N-terminal domain	von Willebrand factor A-like domain superfamily	von Willebrand factor, type A
UniProtKB:A0A8M3B2N6 InterPro	3020
UniProtKB:A0A8M3AK48 InterPro	1950
UniProtKB:A0A8M1RKT8 InterPro	3067
UniProtKB:A0A8M3AJ97 InterPro	3112

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	col12a1a-201 (1) Ensembl	Ensembl	10,560 nt	Select Tool
mRNA	col12a1a-202 (1) Ensembl	Ensembl	940 nt	Select Tool
mRNA	col12a1a-204 (1) Ensembl	Ensembl	8,928 nt	Select Tool ZFIN BLAST
ncRNA	col12a1a-002 (1) Ensembl	Ensembl	630 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-col12a1	polyclonal	col12a1a		Rabbit	IHC		7
Ab2-col12a1	polyclonal	col12a1a		Guinea pig	IHC WB		5

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations