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 be an extracellular matrix structural constituent. Acts upstream of or within cartilage morphogenesis. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix and extracellular space. 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

20 figures from 11 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
Domain	IPR048287	Thrombospondin-like, N-terminal domain
Family	IPR050149	Collagen superfamily
Homologous_superfamily	IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Length	Collagen superfamily	Collagen triple helix repeat	Concanavalin A-like lectin/glucanase domain superfamily	Fibrillar collagen, C-terminal	Laminin G domain	Thrombospondin-like, N-terminal domain
UniProtKB:A0A8M1NB54 InterPro	1695
UniProtKB:F1R5X4 InterPro	1721
UniProtKB:A0A8M1P8Y1 InterPro	1803
UniProtKB:A0A8M6Z300 InterPro	1978
UniProtKB:A0A8M2B5Z5 InterPro	2021
UniProtKB:A0A8M2B6B8 InterPro	1764
UniProtKB:A0A8M2B6G1 InterPro	1904

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	col11a2-001 (1)	Havana	4,052 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	col11a2-201 (1) Ensembl	Ensembl	6,965 nt	Select Tool ZFIN BLAST
mRNA	col11a2-202 (1) Ensembl	Ensembl	1,565 nt	Select Tool ZFIN BLAST
mRNA	col11a2-203 (1) Ensembl	Ensembl	5,476 nt	Select Tool ZFIN BLAST
mRNA	col11a2-204 (1) Ensembl	Ensembl	6,544 nt	Select Tool ZFIN BLAST

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