Gene

col12a1b

ID

ZDB-GENE-120215-116

Name

collagen, type XII, alpha 1b

Symbol

col12a1b Nomenclature History

Previous Names

si:ch211-106k22.1 (1)

Type

protein_coding_gene

Location

Chr: 20 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. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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 col12a1b Human Ortholog

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

Associated With col12a1b 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
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	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:A0A8M6Z3F3 InterPro	3646
UniProtKB:A0A8M6YUY1 InterPro	3653
UniProtKB:A0A8M9P340 InterPro	2487
UniProtKB:A0A8M6YUB5 InterPro	3615
UniProtKB:A0A8M6YWS8 InterPro	3650
UniProtKB:A0A8M6Z2U2 InterPro	3472

Transcripts

Genome Browsers

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	col12a1b-202 (1) Ensembl	Havana	721 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col12a1b-203 (1) Ensembl	Havana	7011 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