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 be an extracellular matrix structural constituent. Acts upstream of or within notochord development. Predicted to be located in extracellular region. Predicted to be part of collagen type XI trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in several structures, including axis; cranial cartilage; nervous system; 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
Comparative Information
Expression
All Expression Data
12 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Hardy et al., 2020
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations