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 ... See more...

Aliases for COL6A2 Gene

Aliases for COL6A2 Gene

  • Collagen Type VI Alpha 2 Chain 2 3 5
  • Collagen Alpha-2(VI) Chain 3 4
  • Human MRNA For Collagen VI Alpha-2 C-Terminal Globular Domain 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Collagen VI, Alpha-2 Polypeptide 3
  • Collagen, Type VI, Alpha 2 3
  • Collagen Type VI Alpha 2 2
  • BTHLM1 3
  • PP3610 3
  • UCMD1 3

External Ids for COL6A2 Gene

Previous GeneCards Identifiers for COL6A2 Gene

  • GC21P044024
  • GC21P046374
  • GC21P046342
  • GC21P047518
  • GC21P032899

Summaries for COL6A2 Gene

Entrez Gene Summary for COL6A2 Gene

  • 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]

GeneCards Summary for COL6A2 Gene

COL6A2 (Collagen Type VI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL6A2 include Myosclerosis, Autosomal Recessive and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are ERK Signaling and Focal Adhesion. An important paralog of this gene is COL5A2.

UniProtKB/Swiss-Prot Summary for COL6A2 Gene

Gene Wiki entry for COL6A2 Gene

Additional gene information for COL6A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL6A2 Gene

Genomics for COL6A2 Gene

GeneHancer (GH) Regulatory Elements for COL6A2 Gene

Promoters and enhancers for COL6A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL6A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL6A2

Top Transcription factor binding sites by QIAGEN in the COL6A2 gene promoter:
  • AP-1
  • Elk-1
  • HOXA5
  • Nkx2-5
  • RREB-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • TBP

Genomic Locations for COL6A2 Gene

Genomic Locations for COL6A2 Gene
chr21:46,097,606-46,132,849
(GRCh38/hg38)
Size:
35,244 bases
Orientation:
Plus strand
chr21:47,518,011-47,552,763
(GRCh37/hg19)
Size:
34,753 bases
Orientation:
Plus strand

Genomic View for COL6A2 Gene

Genes around COL6A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A2 Gene

Proteins for COL6A2 Gene

  • Protein details for COL6A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12110-CO6A2_HUMAN
    Recommended name:
    Collagen alpha-2(VI) chain
    Protein Accession:
    P12110
    Secondary Accessions:
    • Q13909
    • Q13910
    • Q13911
    • Q14048
    • Q14049
    • Q16259
    • Q16597
    • Q6P0Q1
    • Q9UML3
    • Q9Y4S8

    Protein attributes for COL6A2 Gene

    Size:
    1019 amino acids
    Molecular mass:
    108579 Da
    Quaternary structure:
    • Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). Interacts with CSPG4.

    Alternative splice isoforms for COL6A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL6A2 Gene

Post-translational modifications for COL6A2 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn140, Asn327, Asn630, Asn785, Asn897, and Asn954
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO6A2_HUMAN (1137)

No data available for DME Specific Peptides for COL6A2 Gene

Domains & Families for COL6A2 Gene

Gene Families for COL6A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL6A2 Gene

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Von Willebrand factor type A domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL6A2 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-2(VI) chain (CO6A2_HUMAN)
  • COL6A2 protein (Q6FHW5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12110

UniProtKB/Swiss-Prot:

CO6A2_HUMAN :
  • Belongs to the type VI collagen family.
Family:
  • Belongs to the type VI collagen family.
genes like me logo Genes that share domains with COL6A2: view

Function for COL6A2 Gene

Molecular function for COL6A2 Gene

UniProtKB/Swiss-Prot Function:
Collagen VI acts as a cell-binding protein.
GENATLAS Biochemistry:
collagen type VI,alpha 2 (140kDa),microfibrillar

Phenotypes From GWAS Catalog for COL6A2 Gene

Gene Ontology (GO) - Molecular Function for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
GO:0005518 collagen binding IPI 18400749
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
genes like me logo Genes that share ontologies with COL6A2: view
genes like me logo Genes that share phenotypes with COL6A2: view

Human Phenotype Ontology for COL6A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL6A2 Gene

MGI Knock Outs for COL6A2:
  • Col6a2 Col6a2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL6A2 Gene

Localization for COL6A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL6A2 Gene

Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL6A2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COL6A2: view

Pathways & Interactions for COL6A2 Gene

PathCards logo

SuperPathways for COL6A2 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Focal Adhesion
5 PI3K-Akt signaling pathway
genes like me logo Genes that share pathways with COL6A2: view

Pathways by source for COL6A2 Gene

15 Qiagen pathways for COL6A2 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003429 growth plate cartilage chondrocyte morphogenesis IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0009749 response to glucose IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL6A2: view

No data available for SIGNOR curated interactions for COL6A2 Gene

Drugs & Compounds for COL6A2 Gene

(1) Drugs for COL6A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COL6A2: view

Transcripts for COL6A2 Gene

mRNA/cDNA for COL6A2 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: -

ExUns: 26a · 26b ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for COL6A2 Gene

GeneLoc Exon Structure for
COL6A2

Expression for COL6A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL6A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL6A2 Gene

This gene is overexpressed in Adipocyte (15.2), Urinary Bladder (9.7), Bone marrow mesenchymal stem cell (8.6), Colon muscle (8.5), and Gallbladder (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL6A2 Gene



Protein tissue co-expression partners for COL6A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL6A2

SOURCE GeneReport for Unigene cluster for COL6A2 Gene:

Hs.420269

Evidence on tissue expression from TISSUES for COL6A2 Gene

  • Lung(4.7)
  • Liver(4.3)
  • Bone(4.2)
  • Skin(3.9)
  • Nervous system(3.8)
  • Eye(3.4)
  • Heart(3.1)
  • Intestine(3.1)
  • Muscle(3.1)
  • Pancreas(2.9)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL6A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COL6A2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL6A2 Gene

Orthologs for COL6A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL6A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL6A2 31 30
  • 98.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia COL6A2 31
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col6a2 30
  • 85.51 (n)
mouse
(Mus musculus)
Mammalia Col6a2 17 31 30
  • 85.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL6A2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL6A2 31 30
  • 69.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL6A2 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145523 30
  • 63.25 (n)
Str.15727 30
zebrafish
(Danio rerio)
Actinopterygii col6a2 31 30
  • 62.08 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2562 30
worm
(Caenorhabditis elegans)
Secernentea mec-5 31
  • 40 (a)
OneToMany
Species where no ortholog for COL6A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL6A2 Gene

ENSEMBL:
Gene Tree for COL6A2 (if available)
TreeFam:
Gene Tree for COL6A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL6A2: view image

Paralogs for COL6A2 Gene

(14) SIMAP similar genes for COL6A2 Gene using alignment to 4 proteins:

  • CO6A2_HUMAN
  • C9JH44_HUMAN
  • H7C0M5_HUMAN
  • Q6FHW5_HUMAN
genes like me logo Genes that share paralogs with COL6A2: view

Variants for COL6A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL6A2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
17156 Pathogenic: Ullrich congenital muscular dystrophy 1 46,118,643(+) G/GC FRAMESHIFT_VARIANT
17158 Pathogenic: Ullrich congenital muscular dystrophy 1 46,125,265(+) G/A SPLICE_ACCEPTOR_VARIANT
476457 Likely Benign: not provided 46,122,946(+) CA/TG INTRON_VARIANT
638982 Uncertain Significance: Bethlem myopathy 1 46,122,887(+) G/A MISSENSE_VARIANT
640875 Uncertain Significance: Bethlem myopathy 1 46,132,499(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COL6A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL6A2 Gene

Variant ID Type Subtype PubMed ID
dgv255n21 CNV gain 19592680
dgv7921n54 CNV loss 21841781
esv1002133 CNV deletion 20482838
esv1003876 CNV insertion 20482838
esv1007380 CNV gain 20482838
esv1216777 CNV insertion 17803354
esv1546631 CNV insertion 17803354
esv2723889 CNV deletion 23290073
esv2723890 CNV deletion 23290073
esv2723891 CNV deletion 23290073
esv3647161 CNV gain 21293372
esv3647162 CNV gain 21293372
esv995411 CNV insertion 20482838
nsv1060978 CNV gain 25217958
nsv1061087 CNV loss 25217958
nsv1126616 CNV deletion 24896259
nsv187077 CNV insertion 16902084
nsv187142 CNV deletion 16902084
nsv459311 CNV loss 19166990
nsv470910 CNV gain 18288195
nsv470911 CNV loss 18288195
nsv509804 CNV insertion 20534489
nsv525728 CNV loss 19592680
nsv587943 CNV loss 21841781
nsv587944 CNV loss 21841781
nsv587946 CNV loss 21841781
nsv587947 CNV loss 21841781
nsv587948 CNV loss 21841781
nsv587950 CNV loss 21841781
nsv587951 CNV loss 21841781
nsv587952 CNV loss 21841781
nsv587953 CNV loss 21841781
nsv953658 CNV deletion 24416366

Variation tolerance for COL6A2 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.65; 97.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL6A2 Gene

Human Gene Mutation Database (HGMD)
COL6A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL6A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A2 Gene

Disorders for COL6A2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for COL6A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myosclerosis, autosomal recessive
  • myopathy, myosclerotic
ullrich congenital muscular dystrophy 1
  • ucmd1
bethlem myopathy 1
  • bthlm1
collagen vi-related myopathy
  • collagen type vi-related disorders
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO6A2_HUMAN
  • Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269 PubMed:11865138, ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:17886299, ECO:0000269 PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269 PubMed:15563506, ECO:0000269 PubMed:15689448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL6A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COL6A2: view

No data available for Genatlas for COL6A2 Gene

Publications for COL6A2 Gene

  1. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (PMID: 15563506) Baker NL … Lamandé SR (Human molecular genetics 2005) 3 4 23 54
  2. The expanded collagen VI family: new chains and new questions. (PMID: 23869615) Fitzgerald J … Hansen U (Connective tissue research 2013) 2 3 54
  3. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (PMID: 20302629) Bovolenta M … Gualandi F (BMC medical genetics 2010) 3 23 54
  4. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 41 54
  5. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. (PMID: 19309692) Martoni E … Gualandi F (Human mutation 2009) 3 23 54

Products for COL6A2 Gene

Sources for COL6A2 Gene