COL11A2 - collagen type XI alpha 2 chain Gene

Also Known as HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53; OSMEDA; OSMEDB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1302

About COL11A2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,162,694-33,193,137 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 200 orthologues, 37 paralogues and is associated with 14 phenotypes. Broad expression in testis (RPKM 1.9), brain (RPKM 1.8) and 20 other tissues.

Summary

This gene encodes one of the two alpha chains of type XI Collagen, a minor fibrillar Collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI Collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

COL11A2 Products (4)

mRNA	Protein	Name
NM_001163771.2	NP_001157243.1	collagen alpha-2(XI) chain isoform 4 precursor
NM_080679.3	NP_542410.2	collagen alpha-2(XI) chain isoform 3 preproprotein
NM_080680.3	NP_542411.2	collagen alpha-2(XI) chain isoform 1 preproprotein
NM_080681.3	NP_542412.2	collagen alpha-2(XI) chain isoform 2 preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17703188	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cartilage development	IMP IMP: Inferred from mutant phenotype	9188673	GOA
involved in collagen fibril organization	IDA IDA: Inferred from direct assay	9188673	GOA
involved in roof of mouth development	IMP IMP: Inferred from mutant phenotype	12673280	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	10581026	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	9188673	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	10677296	GOA
involved in soft palate development	IMP IMP: Inferred from mutant phenotype	10677296	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

COL11A2 Protein Structure

Laminin_G_2

Collagen

COLFI

0
300
600
900
1200
1500
1736 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(XI) chain	collagen, type XI, alpha 2

COL11A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL11A2	P13942	DDR2	Homo sapiens	Q16832	SPR	17703188

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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
Deafness, Autosomal Dominant 13	DFNA13 Autosomal Dominant Nonsyndromic Deafness 13 Autosomal Dominant Deafness 13 Deafness, Autosomal Dominant, 13 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 Deafness, Autosomal Dominant, Type 13
Deafness, Autosomal Recessive 53	DFNB53 Autosomal Recessive Nonsyndromic Deafness 53 Autosomal Recessive Deafness 53 Deafness, Autosomal Recessive, 53 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 53 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 53 Deafness, Autosomal Recessive, Type 53
Fibrochondrogenesis 2	FBCG2 Fibrochondrogenesis, Type 2
Fibrochondrogenesis	Fbcg1 Fbcg2 Fibrochondrogenesis-1 Fibrochondrogenesis-2 Fibrochondrogenesis 1 Fibrochondrogenesis 2
Ear Malformation	Cup Ear
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Cystic Lymphangioma	Cystic Hygroma Cavernous Lymphangioma Macrocystic Lymphatic Malformation Cavernous Lymphatic Malformation Macrocystic Lymphangioma Lymphangioma, Cystic
Hypophosphatasia, Infantile	Infantile Hypophosphatasia HPPI Hops Phosphoethanolaminuria Perinatal Lethal Hypophosphatasia Perinatal Lethal Rathbun Disease Perinatal Lethal Phosphoethanolaminuria Infantile Rathbun Disease Infantile Phosphoethanolaminuria Hypophosphatasia, Perinatal Lethal
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
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
Heart, Malformation Of
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
Spinal Stenosis	Lumbar Spinal Stenosis Cervical Spinal Stenosis Spinal Stenosis Of Lumbar Region Spinal Stenosis In Cervical Region Spinal Canal Stenosis
Kohler'S Disease	Kohler Disease Aseptic Necrosis Of The Tarsal Bone Osteochondrosis Of The Tarsal Bone Juvenile Osteochondrosis Of Foot Kohler'S Disease Of The Tarsal Navicular Kohler'S Osteochondrosis Of The Tarsal Navicular Navicular Osteochondrosis Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone Osteochondritis Of Tarsal/Metatarsal Bone Avascular Necrosis Of The Tarsal Bone Larsen-Johansson Syndrome
Fibrochondrogenesis 1	FBCG1 Fibrochondrogenesis, Type 1
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
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
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
Achondrogenesis, Type Ii	Achondrogenesis Type Ii ACG2 Achondrogenesis, Langer-Saldino Type Achondrogenesis Type 2 Chondrogenesis Imperfecta Achondrogenesis, Type Ib, Formerly Achondrogenesis, Type Ii Or Hypochondrogenesis Achondrogenesis 2 Acg-Ii Achondrogenesis-Hypochondrogenesis Type Ii Achondrogenesis Langer-Saldino Type Achondrogenesis-Hypochondrogenesis, Type Ii Hypochondrogenesis
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Spondyloperipheral Dysplasia	Spondyloperipheral Dysplasia With Short Ulna Spondyloperipheral Dysplasia-Short Ulna Syndrome SPD Dysplasia, Spondyloperipheral Spondyloperipheral Dysplasia Short Ulna
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Ossification Of The Posterior Longitudinal Ligament Of Spine	OPLL Ossification Of The Posterior Longitudinal Ligament Of The Spine Ossification Of Posterior Longitudinal Ligament Of Spine Ossification, Posterior Longitudinal Ligament Spine
Diffuse Idiopathic Skeletal Hyperostosis	Hyperostosis, Diffuse Idiopathic Skeletal Ankylosing Vertebral Hyperostosis Dish Disseminated Idiopathic Skeletal Hyperostosis Forestier Disease Forestier'S Disease Hyperostosis Diffuse Idiopathic Skeletal
Vitreous Syneresis	Vitreous Degeneration
Rare Genetic Deafness	Rare Genetic Hearing Loss
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
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
Chondrosarcoma	Cartilaginous Cancer Chondrosarcoma Of Bone Primary Chondrosarcoma Of The Bone CHDSA
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Deafness, Autosomal Recessive 84b	DFNB84B Autosomal Recessive Nonsyndromic Deafness 84b Autosomal Recessive Deafness 84b Deafness, Autosomal Recessive, 84b Deafness, Autosomal Recessive, Type 84b
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
Granulomatosis With Polyangiitis	GPA Wegener Granulomatosis Wegener Granulomatosis, Formerly Midline Granulomatosis Wg, Formerly Necrotizing Respiratory Granulomatosis Wg Wegeners Granulomatosis Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Deafness, Autosomal Recessive 21	DFNB21 Autosomal Recessive Nonsyndromic Deafness 21 Autosomal Recessive Deafness 21 Deafness, Autosomal Recessive, 21 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 Deafness, Autosomal Recessive, Type 21
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
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
Deafness, Autosomal Dominant 21	DFNA21 Autosomal Dominant Nonsyndromic Deafness 21 Autosomal Dominant Deafness 21 Deafness, Autosomal Dominant, 21
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
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
Achondrogenesis	Achondrogenesis Syndrome
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Bone Development Disease
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Refractive Error	Refractive Errors
Orofacial Cleft	Cleft, Orofacial
Bone Structure Disease
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

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-RS02961	COL11A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COL11A2	VGNC	VGNC:102405
Mus musculus	COL11A2	MGD	MGI:88447
Bos taurus	COL11A2	VGNC	VGNC:27554
Rattus norvegicus	COL11A2	RGD	RGD:2373
Canis familiaris	COL11A2	VGNC	VGNC:39457
Macaca mulatta	COL11A2	VGNC	VGNC:71290
Others	COL11A2	NCBI