COL9A3 - collagen type IX alpha 3 chain Gene

Also Known as IDD; MED; EDM3; STL6; DJ885L7.4.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1299

About COL9A3

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:62,816,213-62,841,159 (from NCBI)

This gene has 14 transcripts (splice variants), 52 orthologues, 37 paralogues and is associated with 6 phenotypes. Broad expression in thyroid (RPKM 8.5), salivary gland (RPKM 6.2) and 17 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_001853.4	NP_001844.3	collagen alpha-3(IX) chain precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	8660302	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of collagen type IX trimer	IDA IDA: Inferred from direct assay	8660302	GOA
part of collagen type IX trimer	IPI IPI: Inferred from physical interaction	27897211	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL9A3 Protein Structure

Collagen

0
200
400
600
684 a.a.

Protein Preferred Names	Protein Names
collagen alpha-3(IX) chain	collagen IX, alpha-3 polypeptide

Related Diseases

Diseases	Alias
Epiphyseal Dysplasia, Multiple, 3	EDM3 Multiple Epiphyseal Dysplasia 3 Epiphyseal Dysplasia, Multiple, 3, With Or Without Myopathy Multiple Epiphyseal Dysplasia 3 With Or Without Myopathy Epiphyseal Dysplasia Multiple 3 Dysplasia, Epiphyseal, Multiple, Type 3
Stickler Syndrome, Type Vi	STL6
Intervertebral Disc Disease	Lumbar Disc Disease Intervertebral Disc Disorder IDD Lumbar Disc Herniation Lumbar Disc Degeneration Intervertebral Disc Disease, Susceptibility To Lumbar Disc Herniation, Susceptibility To Lumbar Disc Disease, Susceptibility To Intervertebral Disc Degeneration Discogenic Disease Discogenic Disorder Disorder Of Intervertebral Disc Intervertebral Disk Degeneration Intervertebral Disk Disease Ldd Ldh Lumbar Disc Degeneration, Susceptibility To Degeneration Of Lumbar Intervertebral Disc Intervertebral Disk Displacement
Autosomal Recessive Stickler Syndrome
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Retinal Lattice Degeneration	Palisade Degeneration Of Retina Lattice Retinal Degeneration
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Back Pain
Osteochondritis Dissecans	Osteochondritis Ocd Konig Disease
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Degenerative Disc Disease	Intervertebral Disc Degeneration Cervical Disc Degenerative Disorder Cervical Disc Degenerative Disease Lumbar Disc Degeneration Vertebral Disc Disease Degeneration Of Lumbar Intervertebral Disc Intervertebral Disc Disorder Discogenic Disease
Epiphyseal Dysplasia, Multiple, 6	Multiple Epiphyseal Dysplasia 6 EDM6 Dysplasia, Epiphyseal, Multiple, Type 6
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Epiphyseal Dysplasia, Multiple, 4	EDM4 Multiple Epiphyseal Dysplasia 4 Multiple Epiphyseal Dysplasia With Clubfoot Multiple Epiphyseal Dysplasia Type 4 Multiple Epiphyseal Dysplasia, Autosomal Recessive Multiple Epiphyseal Dysplasia With Bilayered Patellae Med4 Polyepiphyseal Dysplasia Type 4 Rmed Autosomal Recessive Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Bilateral Patellae Epiphyseal Dysplasia Multiple 4 Multiple Epiphyseal Dysplasia With Double-Layered Patella Dysplasia, Epiphyseal, Multiple, Type 4
Epiphyseal Dysplasia, Multiple, 2	EDM2 Multiple Epiphyseal Dysplasia 2 Dysplasia, Epiphyseal, Multiple, Type 2
Epiphyseal Dysplasia, Multiple, 5	EDM5 Multiple Epiphyseal Dysplasia 5 Bhmed Multiple Epiphyseal Dysplasia Type 5 Multiple Epiphyseal Dysplasia, Matn3-Related Microepiphyseal Dysplasia, Bilateral Hereditary Bilateral Hereditary Microepiphyseal Dysplasia Multiple Epiphyseal Dysplasia Matn3-Related Epiphyseal Dysplasia Multiple 5 Multiple Epiphyseal Dysplasia, Matn3 Related Bilateral Hereditary Micro-Epiphyseal Dysplasia Med5 Polyepiphyseal Dysplasia Type 5 Dysplasia, Epiphyseal, Multiple, Type 5
Epiphyseal Dysplasia, Multiple, 1	EDM1 Multiple Epiphyseal Dysplasia 1 Multiple Epiphyseal Dysplasia Type 1 Med1 Multiple Epiphyseal Dysplasia Comp-Related Polyepiphyseal Dysplasia Type 1 Multiple Epiphyseal Dysplasia, Comp-Related Epiphyseal Dysplasia Multiple 1 Epiphyseal Dysplasia, Multiple 1 Dysplasia, Epiphyseal, Multiple, Type 1
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Vitreous Syneresis	Vitreous Degeneration
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
Fibrochondrogenesis 1	FBCG1 Fibrochondrogenesis, Type 1
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Spondylometaphyseal Dysplasia Strudwick Syndrome Dappled Metaphysis Syndrome Semd, Strudwick Type Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type Smed, Strudwick Type Smd Smed Strudwick Type SEMDSTWK Smed, Type I Semdc Smed Type 1 Spondyloepimetaphyseal Dysplasia Strudwick Type Sed Strudwick Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type Smed Type I Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses Dysplasia, Spondyloepimetaphyseal, Strudwick Type Dysplasia, Spondylometaphyseal
Kniest Dysplasia	Kniest Syndrome Metatropic Dwarfism, Type Ii Kniest Chondrodystrophy Metatropic Dysplasia Type Ii Swiss Cheese Cartilage Dysplasia KD Ks Metatropic Dwarfism Type Ii Dysplasia, Kniest
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Achondrogenesis, Type Ib	ACG1B Achondrogenesis Type Ib Achondrogenesis Type 1b Achondrogenesis Ib Achondrogenesis Fraccaro Type Achondrogenesis, Fraccaro Type Achondrogenesis, Parenti-Fraccaro Type Achondrogenesis 1b Acg-Ib Fraccaro Achondrogenesis
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Weissenbacher-Zweymuller Syndrome Wzs Pierre Robin Syndrome With Fetal Chondrodysplasia OSMEDA Weissenbacher-Zweymüller Syndrome Heterozygous Osmed Stickler Syndrome, Type 3 Osmed, Heterozygous Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly Stickler Syndrome, Type Iii, Formerly Stl3, Formerly Piere-Robin Syndrome Pierre Robin Malformation Heterozygous Otospondylomegaepiphyseal Dysplasia Autosomal Dominant Otospondylomegaepiphyseal Dysplasia Ad Osmed Stickler Syndrome Type 3 Stickler Syndrome, Non-Ocular Type Stickler-Like Syndrome Stickler Syndrome 3 Stickler Syndrome Non-Ocular Type Stickler Syndrome Type Iii Stl3 Weissenbacher-Zweymueller Syndrome Stickler Syndrome, Type Iii Pierre Robin Syndrome Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
Cone-Rod Dystrophy 20	CORD20 Dystrophy, Cone-Rod, Type 20
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Achondrogenesis	Achondrogenesis Syndrome
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Spondylolisthesis	Slipped Vertebrae Acquired Spondylolisthesis
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Atelosteogenesis	Atelosteogenesis, Type 1
Bone Deterioration Disease
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Bone Development Disease
Bone Structure Disease
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03002	COL9A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COL9A3	VGNC	VGNC:27577
Canis familiaris	COL9A3	VGNC	VGNC:39487
Rattus norvegicus	COL9A3	RGD	RGD:1310255
Felis catus	COL9A3	VGNC	VGNC:80074
Mus musculus	COL9A3	MGD	MGI:894686
Others	COL9A3	NCBI