Home

COL9A2 (human)

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: 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

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  DISEASE 120260 600204 603932  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	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

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-a	ETGPHGYkGMVGAIG
0	1		K279-a	PPGRAGEkGDEGSPG
0	1		S459-p	EKGEKGEsGEPGPKG
0	1		S677	LGASAYASARLTEPG

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

Home  |  Curator Login With enhanced literature mining using Linguamatics I2E Produced by 3rd Millennium  |  Design by Digizyme ©2003-2013 Cell Signaling Technology, Inc.