NP_001843.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
65,131 Da
NCBI Official Full Name
collagen alpha-2(IX) chain
NCBI Official Synonym Full Names
collagen type IX alpha 2 chain
NCBI Protein Information
collagen alpha-2(IX) chain
UniProt Protein Name
Collagen alpha-2(IX) chain
NCBI Summary for COL9A2
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. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
UniProt Comments for COL9A2
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.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1p34.2
Cellular Component: endoplasmic reticulum lumen; extracellular region; proteinaceous extracellular matrix
Molecular Function: extracellular matrix structural constituent conferring tensile strength
Biological Process: extracellular matrix organization; skeletal system development
Disease: Epiphyseal Dysplasia, Multiple, 2; Intervertebral Disc Disease; Stickler Syndrome, Type V
Research Articles on COL9A2
Precautions
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Products associated with COL9A2 elisa kit
Pathways associated with COL9A2 elisa kit
Diseases associated with COL9A2 elisa kit
Disease Name |
Pubmed Publications |
Bone Diseases, Developmental Antibodies |
>34 publications with COL9A2 and Bone Diseases, Developmental |
Epiphyseal dysplasia, multiple, 2 Antibodies |
>15 publications with COL9A2 and Epiphyseal dysplasia, multiple, 2 |
Nervous System Diseases Antibodies |
>8 publications with COL9A2 and Nervous System Diseases |
Abnormalities, Multiple Antibodies |
>8 publications with COL9A2 and Abnormalities, Multiple |
Intervertebral disc disease Antibodies |
>7 publications with COL9A2 and Intervertebral disc disease |
Congenital Abnormalities Antibodies |
>6 publications with COL9A2 and Congenital Abnormalities |
Limb Deformities, Congenital Antibodies |
>2 publications with COL9A2 and Limb Deformities, Congenital |
Cleft Palate Antibodies |
>2 publications with COL9A2 and Cleft Palate |
Craniofacial Abnormalities Antibodies |
>2 publications with COL9A2 and Craniofacial Abnormalities |
Neoplasms Antibodies |
>2 publications with COL9A2 and Neoplasms |
Organs/Tissues associated with COL9A2 elisa kit
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