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 be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within response to mechanical stimulus and skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen type I trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including cranium; dermomyotome; integument; muscle; and pectoral fin. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. 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