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This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
COL1A2 (Collagen Type I Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL1A2 include Osteogenesis Imperfecta, Type Iii and Osteogenesis Imperfecta, Type Iv. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein binding, bridging. An important paralog of this gene is COL2A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 19932771 |
GO:0005201 | extracellular matrix structural constituent | IEA,NAS | 8982144 |
GO:0005515 | protein binding | IPI | 18375391 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
GO:0030674 | protein binding, bridging | IMP | 18375391 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005584 | collagen type I trimer | IBA,TAS | 6267597 |
GO:0005615 | extracellular space | IEA,IDA | 18375391 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Focal Adhesion |
.61
|
.61
|
5 | PI3K-Akt signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IMP | 8841196 |
GO:0001568 | blood vessel development | IMP | 17211858 |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA | 17217948 |
GO:0007266 | Rho protein signal transduction | IDA | 17217948 |
GO:0007596 | blood coagulation | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | ^ | 35 | ^ | 36a | · | 36b | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ | 41a | · | 41b | · | 41c | ^ | 42 | ^ | 43a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 43b | ^ | 44a | · | 44b | ^ | 45a | · | 45b | · | 45c | ^ | 46a | · | 46b | · | 46c | · | 46d | ^ | 47a | · | 47b | ^ | 48a | · | 48b | · | 48c | ^ | 49 | ^ | 50 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL1A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL1A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL1A2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col1a2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col1a2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL1A2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL1A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL1A2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL1A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col1a2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | col1a2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col1a2 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11699 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cg25C 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
17251 | Pathogenic: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 94,401,621(+) | G/A | SPLICE_DONOR_VARIANT | |
17252 | Pathogenic: Osteogenesis imperfecta, recessive perinatal lethal | 94,418,557(+) | G/A | INTRON_VARIANT | |
17273 | Pathogenic: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | 94,405,731(+) | G/A | INTRON_VARIANT | |
17274 | Pathogenic: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | 94,412,122(+) | G/C | SPLICE_DONOR_VARIANT | |
635335 | Uncertain Significance: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 94,409,805(+) | GTGCCAGAGGACT/G | INFRAME_DELETION |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2734832 | CNV | deletion | 23290073 |
esv2734833 | CNV | deletion | 23290073 |
nsv1023193 | CNV | gain | 25217958 |
nsv464642 | CNV | loss | 19166990 |
nsv607856 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type iii |
|
|
osteogenesis imperfecta, type iv |
|
|
osteogenesis imperfecta, type ii |
|
|
ehlers-danlos syndrome, cardiac valvular type |
|
|
ehlers-danlos syndrome, arthrochalasia type, 2 |
|