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. 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 and extracellular space. Is expressed in several structures, including cranium; integument; myoseptum; osteoblast; 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
41 figures from 27 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 2 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
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Fibrillar collagen, C-terminal
UniProtKB:Q90YJ0 1352
UniProtKB:Q6IQX2 1352
Transcripts
Genome Browsers
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