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Protein Page:
COL9A2 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
COL9A2 Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A2 are the cause of multiple epiphyseal dysplasia type 2 (EDM2). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM2 inheritance is autosomal dominant. Defects in COL9A2 may be a cause of susceptibility to intervertebral disc disease (IDD); also known as lumbar disk herniation (LDH). IDD is one of the most common musculo-skeletal disorders and the predominant cause of low-back pain and unilateral leg pain. Defects in COL9A2 are the cause of Stickler syndrome type 5 (STL5). 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. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Cellular Component: endoplasmic reticulum lumen; extracellular region
Molecular Function: extracellular matrix structural constituent conferring tensile strength
Biological Process: collagen catabolic process; extracellular matrix disassembly; axon guidance; extracellular matrix organization and biogenesis; skeletal development
Reference #:  Q14055 (UniProtKB)
Alt. Names/Synonyms: alpha 2 type IX collagen; CO9A2; COL9A2; Collagen alpha-2(IX) chain; collagen IX, alpha-2 polypeptide; collagen, type IX, alpha 2; DJ39G22.4; EDM2; MED
Gene Symbols: COL9A2
Molecular weight: 65,131 Da
Basal Isoelectric point: 9.23  Predict pI for various phosphorylation states
Select Structure to View Below

COL9A2

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S7-p _MAAATAsPRsLLVL
0 1 S10-p AATAsPRsLLVLLQV
0 1 K252-ac ETGPHGYkGMVGAIG
0 1 K279-ac PPGRAGEkGDEGSPG
0 1 S459-p EKGEKGEsGEPGPKG
0 1 S677 LGASAYASARLTEPG
  mouse

 
A6 __MTAVPAPRSLFVL
S9 TAVPAPRSLFVLLQV
K251 EMGPRGYKGMVGSIG
K278 PPGEAGEKGDVGSQG
S458 EKGEKGQSGEPGLKG
S676-p LGASAYTsARLTEPG
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