COL11A2 - collagen type XI alpha 2 chain Gene

Homo sapiens

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

Gene ID: 1302 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17703188	GOA

Biological Process GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Agents

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 Sets	/	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