1. Gene
  2. COL9A2 - collagen type IX alpha 2 chain Gene

COL9A2 - collagen type IX alpha 2 chain Gene

Homo sapiens

Also known as MED; EDM2; STL5; DJ39G22.4

Gene ID: 1298 | Gene type: protein coding

About COL9A2

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,300,489-40,317,286 (from NCBI)

This gene has 12 transcripts (splice variants), 151 orthologues, 37 paralogues and is associated with 6 phenotypes. Broad expression in prostate (RPKM 5.8), brain (RPKM 5.5) and 20 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. 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]

COL9A2 Products(1)

mRNA Protein Name
NM_001852.4 NP_001843.1 collagen alpha-2(IX) chain precursor

COL9A2 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (26 - 81)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (60 - 115)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (116 - 162)

Collagen

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

Collagen

Collagen: Collagen triple helix repeat (20 copies) (322 - 374)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (367 - 419)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (406 - 464)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (460 - 517)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (550 - 608)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (612 - 662)

  • 0
  • 200
  • 400
  • 600
  • 689 a.a.
Protein Preferred Names Protein Names

collagen alpha-2(IX) chain

alpha 2 type IX collagen

Related Diseases

Diseases Alias
Stickler Syndrome, Type V

STL5

Stickler Syndrome, Type 5

Stickler Syndrome 5

Epiphyseal Dysplasia, Multiple, 2

EDM2

Multiple Epiphyseal Dysplasia 2

Dysplasia, Epiphyseal, Multiple, Type 2

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Autosomal Recessive Stickler Syndrome
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

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

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Pseudoachondroplasia

PSACH

Pseudoachondroplastic Dysplasia

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Osteochondritis Dissecans

Osteochondritis

Ocd

Konig Disease

Spinal Stenosis

Lumbar Spinal Stenosis

Cervical Spinal Stenosis

Spinal Stenosis Of Lumbar Region

Spinal Stenosis In Cervical Region

Spinal Canal Stenosis

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

Malignant Iris Melanoma

Malignant Melanoma Of Iris

Melanoma Of The Iris

Vitreous Syneresis

Vitreous Degeneration

Epiphyseal Dysplasia, Multiple, 6

Multiple Epiphyseal Dysplasia 6

EDM6

Dysplasia, Epiphyseal, Multiple, Type 6

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

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

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

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

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

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

Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

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

Vitreoretinal Degeneration
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Osmed

Otospondylomegaepiphyseal Dysplasia

Chondrodystrophy With Sensorineural Deafness

Nance-Insley Syndrome

Nance-Sweeney Chondrodysplasia

OSMEDB

Insley-Astley Syndrome

Osmed Syndrome

Mega-Epiphyseal Dwarfism

Weissenbacher-Zweymuller Syndrome, Formerly

Wzs, Formerly

Nance Sweeney Chondrodysplasia

Oto-Spondylo-Mega-Epiphyseal Dysplasia

Oto-Spondylo-Megaepiphyseal Dysplasia

Megaepiphyseal Dwarfism

Achondrogenesis

Achondrogenesis Syndrome

Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2

Spondyloperipheral Dysplasia

Spondyloperipheral Dysplasia With Short Ulna

Spondyloperipheral Dysplasia-Short Ulna Syndrome

SPD

Dysplasia, Spondyloperipheral

Spondyloperipheral Dysplasia Short Ulna

Ciliary Dyskinesia, Primary, 7

Primary Ciliary Dyskinesia 7

CILD7

Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 7 With Or Without Situs Inversus

Ics7

Immotile Cilia Syndrome 7

Dyskinesia, Ciliary, Primary, 7

Fibrochondrogenesis 1

FBCG1

Fibrochondrogenesis, Type 1

Atelosteogenesis

Atelosteogenesis, Type 1

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

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

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

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

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

Spondylolisthesis

Slipped Vertebrae

Acquired Spondylolisthesis

Bone Development Disease
Bone Deterioration Disease
Retinal Perforation

Retinal Break

Retinal Perforations

Retinal Dialysis

Retinal Tear

Retinal Break Nos

Ruptured Retina

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia

Camptomelic Dysplasia

Campomelic Dysplasia With Autosomal Sex Reversal

Cmpd

CMD1

Cmpd1

Cmpd1/Sra1

Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

Campomelic Dwarfism

Campomelic Syndrome

Dysplasia, Campomelic

Chronic Myeloproliferative Disorder

Familial Dilated Cardiomyopathy

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Bone Structure Disease
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Orofacial Cleft

Cleft, Orofacial

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
Rattus norvegicus COL9A2 RGD RGD:1307029
Bos taurus COL9A2 VGNC VGNC:27576
Canis familiaris COL9A2 VGNC VGNC:39486
Mus musculus COL9A2 MGD MGI:88466
Felis catus COL9A2 VGNC VGNC:107517
Macaca mulatta COL9A2 VGNC VGNC:71307