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
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput 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 IPR001791 Laminin G domain
Domain IPR002035 von Willebrand factor, type A
Domain IPR003961 Fibronectin type III
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 Laminin G domain von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:I3ISL8 241
UniProtKB:E7FG81 3643
UniProtKB:I3IT32 2208
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations