InnateDB Protein
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IDBP-96900.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COL9A2
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Protein Name
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collagen, type IX, alpha 2
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Synonyms
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DJ39G22.4; EDM2; MED; STL5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000361834
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InnateDB Gene
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IDBG-96898 (COL9A2)
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Protein Structure
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Function |
Structural component of hyaline cartilage and vitreous of the eye.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix {ECO:0000250}.
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Disease Associations |
Multiple epiphyseal dysplasia 2 (EDM2) [MIM:600204]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269PubMed:10364514}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269PubMed:10411504}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Stickler syndrome 5 (STL5) [MIM:614284]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. {ECO:0000269PubMed:21671392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0030020
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extracellular matrix structural constituent conferring tensile strength
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008160
Collagen triple helix repeat
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PFAM |
PF01391
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q14055
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PhosphoSite |
PhosphoSite-Q14055
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TrEMBL |
D3DPU8
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UniProt Splice Variant |
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Entrez Gene |
1298
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UniGene |
Hs.418012
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RefSeq |
NP_001843
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HUGO |
HGNC:2218
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OMIM |
120260
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CCDS |
CCDS450
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HPRD |
00373
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IMGT |
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EMBL |
AF019406
AL050341
BC136326
BC136327
CH471059
M95610
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GenPept |
AAA80977
AAC33512
AAI36327
AAI36328
CAB81611
EAX07224
EAX07226
EAX07228
EAX07229
EAX07230
EAX07232
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