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

Predicted to have extracellular matrix structural constituent. Involved in cartilage morphogenesis. Predicted to localize to collagen trimer; extracellular matrix; and extracellular space. Is expressed in several structures, including cranial cartilage; notochord; pectoral fin bud; pharyngeal arch; 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

19 figures from 10 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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:Q9PTI5 InterPro	63
UniProtKB:F6NLZ6 InterPro	1695
UniProtKB:A0ZXN1 InterPro	1695
UniProtKB:D6MUD4 InterPro	1803
UniProtKB:I3ISS1 InterPro	1803
UniProtKB:E7F7J8 InterPro	423
UniProtKB:Q8AW17 InterPro	1349
UniProtKB:F1R5X4 InterPro	1721
UniProtKB:A5PL43 InterPro	430
UniProtKB:Q1LWX5 InterPro	1877

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	col11a2-001 (1)	4052 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a2-201 (1) Ensembl	6965 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a2-202 (1) Ensembl	1565 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a2-203 (1) Ensembl	5476 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a2-204 (1) Ensembl	6544 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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