COL9A2 - collagen type IX alpha 2 chain Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1298

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
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

COL9A2 Protein Structure

Collagen

0
200
400
600
689 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(IX) chain	alpha 2 type IX collagen

COL9A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL9A2	Q14055	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	COL9A2	Q14055	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	COL9A2	Q14055	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	COL9A2	Q14055	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	COL9A2	Q14055	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32296183
Intra	COL9A2	Q14055	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	32296183
Intra	COL9A2	Q14055	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	COL9A2	Q14055	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
Intra	COL9A2	Q14055	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03001	COL9A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21108	Col9a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27627	Col9a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	COL9A2	NCBI