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
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
Ullrich congenital muscular dystrophy 2 Alliance ?Ullrich congenital muscular dystrophy 2 616470
Bethlem myopathy 2 616471
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
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:A0A8M6Z3F3 3646
UniProtKB:A0A8M6YUY1 3653
UniProtKB:A0A8M9P340 2487
UniProtKB:A0A8M6YUB5 3615
UniProtKB:A0A8M6YWS8 3650
UniProtKB:A0A8M6Z2U2 3472
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col12a1b-201 (1) Ensembl 10,932 nt
mRNA col12a1b-202 (1) Ensembl 721 nt
mRNA col12a1b-203 (1) Ensembl 7,011 nt
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