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. Human ortholog(s) of this gene implicated in Marshall syndrome; Stickler syndrome; autosomal dominant nonsyndromic deafness; and fibrochondrogenesis. Is expressed in several structures, including cranial cartilage; nervous system; neural crest; notochord; and otic vesicle. 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

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