Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
COL9A3 (Collagen Type IX Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL9A3 include Epiphyseal Dysplasia, Multiple, 3 and Intervertebral Disc Disease. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL4A3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005594 | collagen type IX trimer | TAS,IDA | 8660302 |
GO:0005604 | basement membrane | IBA | 21873635 |
GO:0005615 | extracellular space | IBA | 21873635 |
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 | Degradation of the extracellular matrix | ||
5 | ECM-receptor interaction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008584 | male gonad development | IBA | 21873635 |
GO:0008585 | female gonad development | IBA | 21873635 |
GO:0030198 | extracellular matrix organization | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL9A3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL9A3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL9A3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL9A3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Col9a3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col9a3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL9A3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL9A3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL9A3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col9a3 30 |
|
||
Str.11870 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | col9a3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42342 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | col-99 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
871099 | Likely Pathogenic: not provided | 62,837,213(+) |
A/AC NM_001853.4(COL9A3):c.1739dup (p.Gly581fs) |
FRAMESHIFT | |
931460 | Likely Pathogenic: Epiphyseal dysplasia, multiple, 3 | 62,819,220(+) |
A/G NM_001853.4(COL9A3):c.184-2A>G |
SPLICE_ACCEPTOR | |
973782 | Likely Pathogenic: Retinal detachment; Lattice retinal degeneration | 62,829,682(+) |
G/C NM_001853.4(COL9A3):c.1107+1G>C |
SPLICE_DONOR | |
983520 | Uncertain Significance: Epiphyseal dysplasia, multiple, 3 | 62,826,781(+) |
C/G NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) |
MISSENSE | |
rs1010416700 | Likely Benign: not provided | 62,817,584(+) |
C/T NM_001853.4(COL9A3):c.96C>T (p.Gly32=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1317287 | CNV | deletion | 17803354 |
esv2259099 | CNV | deletion | 18987734 |
esv2722838 | CNV | deletion | 23290073 |
esv2722839 | CNV | deletion | 23290073 |
nsv1131599 | CNV | deletion | 24896259 |
nsv428380 | CNV | loss | 18775914 |
nsv470558 | CNV | loss | 18288195 |
nsv828794 | CNV | loss | 20364138 |
nsv834027 | CNV | loss | 17160897 |
nsv953302 | CNV | deletion | 24416366 |
nsv9825 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epiphyseal dysplasia, multiple, 3 |
|
|
intervertebral disc disease |
|
|
multiple epiphyseal dysplasia due to collagen 9 anomaly |
|
|
autosomal recessive stickler syndrome |
|
|
multiple epiphyseal dysplasia |
|
|