Gene

col2a1b

ID

ZDB-GENE-050302-9

Name

collagen, type II, alpha 1b

Symbol

col2a1b Nomenclature History

Previous Names

im:6788778
zmp:0000000538

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to have extracellular matrix structural constituent. Involved in fin morphogenesis. Predicted to localize to collagen trimer; extracellular matrix; and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Is expressed in several structures, including axis; central nervous system; fin; head; and notochord. Orthologous to human COL2A1 (collagen type II alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

21 figures from 15 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: 2 figures from Durán et al., 2011
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With col2a1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
achondrogenesis type II	Alliance	Achondrogenesis, type II or hypochondrogenesis	200610
Kniest dysplasia	Alliance	Kniest dysplasia	156550
Legg-Calve-Perthes disease	Alliance	Legg-Calve-Perthes disease	150600
multiple epiphyseal dysplasia with myopia and deafness	Alliance	?Epiphyseal dysplasia, multiple, with myopia and deafness	132450
spondyloepimetaphyseal dysplasia, Strudwick type	Alliance	SMED Strudwick type	184250
spondyloepiphyseal dysplasia congenita	Alliance	SED congenita	183900
spondyloepiphyseal dysplasia Stanescu type	Alliance	Spondyloepiphyseal dysplasia, Stanescu type	616583
spondyloperipheral dysplasia	Alliance	Spondyloperipheral dysplasia	271700
Stickler syndrome 1	Alliance	Stickler syndrome, type I	108300
Torrance type platyspondylic dysplasia	Alliance	Platyspondylic skeletal dysplasia, Torrance type	151210
		Avascular necrosis of the femoral head	608805
		Czech dysplasia	609162
		Osteoarthritis with mild chondrodysplasia	604864
		Stickler syndrome, type I, nonsyndromic ocular	609508
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	619248

Associated With col2a1b 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	IPR001007	VWFC domain
Family	IPR050149	Collagen superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Length	Collagen superfamily	Collagen triple helix repeat	Fibrillar collagen, C-terminal	VWFC domain
UniProtKB:L0S5L0 InterPro	1493

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	col2a1b-201 (1) Ensembl	Ensembl		5,158 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations