COL6A2 - collagen type VI alpha 2 chain Gene

Also Known as UCMD1; BTHLM1; PP3610

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1292

About COL6A2

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:46,098,112-46,132,848 (from NCBI)

This gene has 7 transcripts (splice variants), 272 orthologues, 37 paralogues and is associated with 8 phenotypes. Broad expression in placenta (RPKM 164.0), endometrium (RPKM 155.3) and 22 other tissues.

Summary

This gene encodes one of the three alpha chains of type VI Collagen, a beaded filament Collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this Collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

COL6A2 Products (3)

mRNA	Protein	Name
NM_001849.4	NP_001840.3	collagen alpha-2(VI) chain isoform 2C2 precursor
NM_058174.3	NP_478054.2	collagen alpha-2(VI) chain isoform 2C2a precursor
NM_058175.3	NP_478055.2	collagen alpha-2(VI) chain isoform 2C2a' precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables collagen binding	IPI IPI: Inferred from physical interaction	18400749	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12812986	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular region	IDA IDA: Inferred from direct assay	18400749	GOA
part of protein-containing complex	IPI IPI: Inferred from physical interaction	18400749	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

COL6A2 Protein Structure

VWA

Collagen

VWA

0
200
400
600
800
1019 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(VI) chain	collagen VI, alpha-2 polypeptide

COL6A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COL6A2	P12110	DISC1	Homo sapiens	Q9NRI5	Y2H	12812986

Cross: Cross-species interaction Intra: Intraspecies interaction

COL6A2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81048	Collagen VI A1+A2+A3 Antibody (YA893)	WB, ICC/IF, IHC-P	Human, Mouse, Rat
HY-P810861	Collagen 6 alpha 2 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82892	Collagen VI A1+A2+A3 Antibody (YA2637)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myosclerosis, Autosomal Recessive	Myosclerosis Myosclerosis, Congenital Myopathy, Myosclerotic Myosclerosis, Congenital, Of Lowenthal Congenital Myosclerosis, Lowenthal Type Myosclerosis Autosomal Recessive MYOSAR Congenital Myosclerosis Of Lowenthal Myosclerotic Myopathy
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Qualitative Or Quantitative Defects Of Collagen 6
Collagen Vi-Related Dystrophies	Col6-Rds Collagen 6-Related Myopathy Col6-Related Dystrophies Collagen Vi-Related Dystrophy Collagen Type Vi-Related Disorders Collagen Vi-Related Myopathies Collagen Vi-Related Myopathy Colvi Myopathies
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Myopathy	Muscular Diseases Myopathies
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Nail Disorder, Nonsyndromic Congenital, 8	Nonsyndromic Congenital Nail Disorder 8 Toenail Dystrophy, Isolated NDNC8 Isolated Toenail Dystrophy Nail Disorder, Non-Syndromic Congenital, 8 Isolated Toenail Dystrophy Without Skin Fragility Nail Disorder, Nonsyndromic Congenital, Type 8
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

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-RS02993	COL6A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COL6A2	RGD	RGD:1305585
Bos taurus	COL6A2	VGNC	VGNC:27571
Felis catus	COL6A2	VGNC	VGNC:61067
Macaca mulatta	COL6A2	VGNC	VGNC:71302
Canis familiaris	COL6A2	VGNC	VGNC:53025
Mus musculus	COL6A2	MGD	MGI:88460
Others	COL6A2	NCBI