Gene

col11a1b

ID
ZDB-GENE-070912-607
Name
collagen, type XI, alpha 1b
Symbol
col11a1b Nomenclature History
Previous Names
  • si:dkey-87l9.2
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to collagen type XI trimer and extracellular space. Is expressed in several structures, including cranial cartilage; nervous system; neural crest; notochord; and otic vesicle. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome 2; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis 1. Orthologous to human COL11A1 (collagen type XI alpha 1 chain).
Genome Resources
Note
None
Expression
All Expression Data
10 figures from 3 publications
Cross-Species Comparison
High Throughput Data
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 col11a1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
fibrochondrogenesis 1 Alliance Fibrochondrogenesis 1 228520
Marshall syndrome Alliance Marshall syndrome 154780
Stickler syndrome 2 Alliance Stickler syndrome, type II 604841
?Deafness, autosomal dominant 37 618533
{Lumbar disc herniation, susceptibility to} 603932
Associated With col11a1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001791 Laminin G domain
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase 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 Fibrillar collagen, C-terminal Laminin G domain
UniProtKB:D6MUD3 1815
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