Gene

col9a1b

ID

ZDB-GENE-040426-2410

Name

collagen, type IX, alpha 1b

Symbol

col9a1b Nomenclature History

Previous Names

col9a1
cb339 (1)
sb:cb339
wu:fa12a12
wu:fa12d02
wu:fc22c08
wu:fc38d08
zgc:85892

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be part of collagen type XI trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including bone tissue; hypochord; mesenchyme derived from head mesoderm; notochord; and sensory system. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia. Orthologous to human COL9A1 (collagen type IX alpha 1 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb339 (13 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With col9a1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
multiple epiphyseal dysplasia 6	Alliance	?Epiphyseal dysplasia, multiple, 6	614135
		Stickler syndrome, type IV	614134

Associated With col9a1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR050149	Collagen superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Length	Collagen superfamily	Collagen triple helix repeat
UniProtKB:Q6NUV1 InterPro	568
UniProtKB:B8A4T6 InterPro	681

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	col9a1b-201 (1) Ensembl	Ensembl		2,805 nt	Select Tool ZFIN BLAST
mRNA	col9a1b-202 (1) Ensembl	Ensembl		2,297 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