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

Acts upstream of or within regeneration and regulation of axon regeneration. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including immature eye; integument; myoseptum; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

22 figures from 10 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 ZFIN BLAST
mRNA	col12a1a-202 (1) Ensembl	Ensembl	940 nt	Select Tool ZFIN BLAST
mRNA	col12a1a-204 (1) Ensembl	Ensembl	8,928 nt	Select Tool ZFIN BLAST
ncRNA	col12a1a-002 (1) Ensembl	Ensembl	630 nt	Select Tool ZFIN BLAST

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