1. Gene
  2. COL9A3 - collagen type IX alpha 3 chain Gene

COL9A3 - collagen type IX alpha 3 chain Gene

Homo sapiens

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

Gene ID: 1299 | Gene type: protein coding

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

COL9A3 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (29 - 83)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (62 - 116)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (115 - 163)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (179 - 235)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (361 - 415)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (412 - 465)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (463 - 518)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (554 - 608)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (610 - 660)

  • 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

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