Gene

col1a2

ID

ZDB-GENE-030131-8415

Name

collagen, type I, alpha 2

Symbol

col1a2 Nomenclature History

Previous Names

alpha2(I) (1)
hm:zehn2357
wu:fa98d05 (1)
wu:fa99g10 (1)
wu:fb04c08
wu:fb11d06
zehn2357

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to have extracellular matrix structural constituent. Involved in response to mechanical stimulus and skeletal system development. Predicted to localize to collagen type I trimer and extracellular space. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Is expressed in several structures, including cranium; integument; myoseptum; osteoblast; and pectoral fin. Orthologous to human COL1A2 (collagen type I alpha 2 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

56 figures from 40 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7145608 (20 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With col1a2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Ehlers-Danlos syndrome arthrochalasia type 2	Alliance	Ehlers-Danlos syndrome, arthrochalasia type, 2	617821
Ehlers-Danlos syndrome cardiac valvular type	Alliance	Ehlers-Danlos syndrome, cardiac valvular type	225320
osteogenesis imperfecta type 2	Alliance	Osteogenesis imperfecta, type II	166210
osteogenesis imperfecta type 3	Alliance	Osteogenesis imperfecta, type III	259420
osteogenesis imperfecta type 4	Alliance	Osteogenesis imperfecta, type IV	166220
osteoporosis	Alliance	{Osteoporosis, postmenopausal}	166710
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	619120

Associated With col1a2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
osteogenesis imperfecta	col1a2^dmh15/+	standard conditions	Gistelinck et al., 2018
Ehlers-Danlos syndrome	col1a2^{sa17981/sa17981}	standard conditions	Gistelinck et al., 2018