Gene

col11a2

ID
ZDB-GENE-000208-23
Name
collagen, type XI, alpha 2
Symbol
col11a2 Nomenclature History
Previous Names
  • col11a1 (1)
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Is predicted to be an extracellular matrix structural constituent. Involved in collagen fibril organization and sensory perception of sound. Acts upstream of or within cartilage morphogenesis. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including immature eye; notochord; pectoral fin bud; skeletal element; and trabecular layer. Human ortholog(s) of this gene implicated in cleft palate; nonsyndromic deafness (multiple); and osteochondrodysplasia (multiple). Orthologous to human COL11A2 (collagen type XI alpha 2 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
18 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col11a2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 13 Alliance Deafness, autosomal dominant 13 601868
autosomal recessive nonsyndromic deafness 53 Alliance Deafness, autosomal recessive 53 609706
fibrochondrogenesis 2 Alliance Fibrochondrogenesis 2 614524
otospondylomegaepiphyseal dysplasia, autosomal dominant Alliance Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840
otospondylomegaepiphyseal dysplasia, autosomal recessive Alliance Otospondylomegaepiphyseal dysplasia, autosomal recessive 215150
Associated With col11a2 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:D6MUD4 1803
UniProtKB:Q8AW17 1349
UniProtKB:Q9PTI5 63
UniProtKB:Q1LWX5 1877
UniProtKB:F1R5X4 1721
UniProtKB:F6NLZ6 1695
UniProtKB:A0ZXN1 1695
UniProtKB:A5PL43 430
UniProtKB:I3ISS1 1803
UniProtKB:E7F7J8 423
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