1. Gene
  2. COL5A2 - collagen type V alpha 2 chain Gene

COL5A2 - collagen type V alpha 2 chain Gene

Homo sapiens

Also known as EDSC; EDSCL2

Gene ID: 1290 | Gene type: protein coding

About COL5A2

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:189,031,898-189,441,111 (from NCBI)

This gene has 4 transcripts (splice variants), 224 orthologues, 37 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 57.0), placenta (RPKM 54.1) and 20 other tissues.

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

COL5A2 Products(1)

mRNA Protein Name
NM_000393.5 NP_000384.2 collagen alpha-2(V) chain preproprotein

COL5A2 Protein Structure

VWC

VWC: von Willebrand factor type C domain (41 - 96)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (126 - 184)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (213 - 271)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (546 - 589)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (813 - 871)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (846 - 903)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1011 - 1058)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1068 - 1123)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1113 - 1170)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1171 - 1227)

COLFI

COLFI: Fibrillar collagen C-terminal domain (1282 - 1498)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1499 a.a.
Protein Preferred Names Protein Names

collagen alpha-2(V) chain

AB collagen

Related Diseases

Diseases Alias
Ehlers-Danlos Syndrome, Classic Type, 2

Ehlers-Danlos Syndrome, Type Ii

EDSCL2

Ehlers-Danlos Syndrome, Type Ii, Formerly

Eds2, Formerly

Ehlers Danlos Syndrome, Mild Classic Type, Formerly

Eds Ii, Formerly

Ehlers Danlos Syndrome, Mitis Type, Formerly

Ehlers-Danlos Syndrome Classic Type 2

Eds2

Eds Ii

Ehlers-Danlos Syndrome 2

Ehlers-Danlos Syndrome Mild Classic Type

Ehlers-Danlos Syndrome Mitis Type

Ehlers-Danlos, Classic Syndrome, Type 2

Ehlers-Danlos Syndrome Type 2

Classic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Classic Type

Classical Ehlers-Danlos Syndrome

Eds, Classic Type

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome Type 2

Classical Eds

Ceds

Ehlers-Danlos Syndrome, Type 2

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I

EDSCL1

Ehlers-Danlos Syndrome Classic Type 1

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome, Type I, Formerly

Eds1, Formerly

Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

Eds I, Formerly

Ehlers-Danlos Syndrome, Gravis Type, Formerly

Ehlers-Danlos Syndrome, Type 1

Type I Ehlers-Danlos Syndrome

Eds1

Eds I

Ehlers-Danlos Syndrome, Gravis Type

Ehlers-Danlos Syndrome, Severe Classic Type

Ehlers-Danlos Syndrome 1

Ehlers-Danlos, Classic Syndrome, Type 1

Ehlers-Danlos Syndrome Type 2

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Telecanthus
Hypermobile Ehlers-Danlos Syndrome

Heds

Ehlers-Danlos Syndrome Type 3

Ehlers-Danlos Syndrome Hypermobility Type

Hypermobile Eds

Joint Hypermobility

Benign Joint Hypermobility Syndrome

Eds Hypermobility Type

Eds Type Iii

Ehlers-Danlos Syndrome Type Iii

Joint Hypermobility Syndrome

Eds3

Ehlers-Danlos Syndrome, Hypermobility Type

Eds Iii

Eds-Ht

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Aortic Aneurysm, Familial Thoracic 4

AAT4

Faa4

Aortic Aneurysm/Aortic Dissection And Patent Ductus Arteriosus

Familial Aortic Aneurysm 4

Non-Syndromic Thoracic Aortic Aneurysms And Dissection

Taad

Thoracic Aortic Aneurysms And Dissection

Thoracic Aortic Aneurysms And Dissections

Aneurysm, Aortic, Thoracic, Familial, Type 4

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Chiari Malformation
Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b

Caspase-8 Deficiency

Ceds

Alps2b

Autoimmune Lymphoproliferative Syndrome, Type Iib

Alps With Recurrent Viral Infections

Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

Caspase 8 Deficiency Syndrome

Caspase 8 Lymphadenopathy Syndrome

Autoimmune Lymphoproliferative Syndrome Type Iib

Caspase Eight Deficiency State

CASP8D

Fibrochondrogenesis 2

FBCG2

Fibrochondrogenesis, Type 2

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Hypermobility Syndrome

Benign Joint Hypermobility

Nail-Patella Syndrome

Turner-Kieser Syndrome

Onychoosteodysplasia

Fong Disease

NPS

Hereditary Onycho-Osteodysplasia

Nps1

Hereditary Onychoostedysplasia

Iliac Horn Syndrome

Nail Patella Syndrome

Turner-Kiser Syndrome

Arthro-Onychodysplasia

Nps 1

Osteo-Onychodysplasia

Hereditary Osteo-Onychodysplasia

Osterreicher Syndrome

Pelvic Horn Syndrome

Österreicher-Turner Syndrome

Nps - [Nail-Patella Syndrome]

Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Colon Small Cell Carcinoma

Colonic Small Cell Carcinoma

Colon Small Cell Neuroendocrine Carcinoma

Collagen Disease

Collagen Diseases

Collagen Disorder

Tricuspid Valve Prolapse
Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

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

Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa

Punctate Palmoplantar Keratoderma Type I

Ppkp1

Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

PPKP1A

Kppp1

Punctate Palmoplantar Keratoderma Type 1

Palmoplantar Keratoderma, Punctate Type 1a

Palmoplantar Keratoderma, Punctate Type I

Keratoderma, Palmoplantar, Punctate Type Ia

Punctate Palmoplantar Keratoderma Type 1a

Punctate Palmoplantar Keratoderma Type 1b

Brauer-Buschke-Fischer Syndrome

Keratoderma, Palmoplantar Punctate Type 1

Type I Punctate Palmoplantar Keratoderma

Buschke-Fischer-Brauer Syndrome

Keratoderma, Palmoplantar, Punctate 1a

Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

Punctate Palmoplantar Keratoderma Type Ia

Keratoderma, Palmoplantar, Punctate Type 1

Keratoderma, Palmoplantar, Punctate, Type Ia

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

Carotid Artery Dissection

Dissection Of Carotid Artery

Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Type 2

OI2

Oi, Type Ii

Osteogenesis Imperfecta Congenita

Oic

Osteogenesis Imperfecta Type Ii

Lethal Osteogenesis Imperfecta

Oi Type 2

Osteogenesis Imperfecta Congenita Perinatal Lethal Form

Osteogenesis Imperfecta Congenita, Perinatal Lethal Form

Perinatal Lethal Osteogenesis Imperfecta Congenita

Perinatally Lethal Oi

Osteogenesis Imperfecta 2

Oi-Ii

Oi-Iia

Oi Type Iia

Osteogenesis Imperfecta Type Iia

Osteogenesis Imperfecta Type Ii Autosomal Dominant

Oi Type Ii

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Amebiasis

Amoebiasis

Entamoebiasis

Chronic Intestinal Amebiasis

Amoebiasis, Unspecified

Amebic Colitis

Amoebic Enteritis

Infection Due To Entamoeba Histolytica

Amoebic Infection

Disease Due To Endamoebidae

Amoebiasis Nos

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

Postural Orthostatic Tachycardia Syndrome

Irritable Heart

Mitral Valve Prolapse Syndrome

Neurocirculatory Asthenia

Orthostatic Intolerance Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orhtostatic Intolerance

Postural Tachycardia Syndrome Due To Net Deficiency

Soldiers Heart

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2

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

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Preterm Premature Rupture Of The Membranes

Preterm Premature Rupture Of Membranes

PPROM

Preterm Premature Rupture Of The Membranes, Susceptibility To

Pprom - [Preterm Premature Rupture Of Membranes]

Preterm Rupture Of Membranes

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
Mus musculus COL5A2 MGD MGI:88458
Canis familiaris COL5A2 VGNC VGNC:39478
Felis catus COL5A2 VGNC VGNC:61065
Macaca mulatta COL5A2 VGNC VGNC:71301
Bos taurus COL5A2 VGNC VGNC:27568
Rattus norvegicus COL5A2 RGD RGD:70921