COL5A2 - collagen type V alpha 2 chain Gene

Also Known as EDSC; EDSCL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1290

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

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in collagen fibril organization	IMP IMP: Inferred from mutant phenotype	9425231	GOA
involved in eye morphogenesis	IMP IMP: Inferred from mutant phenotype	16431952	GOA
involved in negative regulation of endodermal cell differentiation	IDA IDA: Inferred from direct assay	23154389	GOA
involved in skin development	IMP IMP: Inferred from mutant phenotype	9425231	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of collagen type V trimer	IMP IMP: Inferred from mutant phenotype	9425231	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

COL5A2 Protein Structure

VWC

Collagen

COLFI

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02990	COL5A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21839	Col5a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28355	Col5a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	COL5A2	NCBI