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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL6A2 Gene

protein-coding GIFtS: 63
GCID: GC21P047518

collagen, type VI, alpha 2

Explore 19 diseases affiliated with
COL6A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Collagen, Type VI, Alpha 2¹ ²
Human MRNA For Collagen VI Alpha-2 C-Terminal Globular Domain² 11
PP3610²
Collagen Alpha-2(VI) Chain²
Collagen VI, Alpha-2 Polypeptide²

External Ids:	HGNC: 2212¹	Entrez Gene: 1292²	Ensembl: ENSG00000142173⁷	OMIM: 120240⁵	UniProtKB: P12110³

Export aliases for COL6A2 gene to outside databases

Previous GC identifers: GC21P044024 GC21P046374 GC21P046342 GC21P032899

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL6A2:

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)

UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110

Function: Collagen VI acts as a cell-binding protein

Gene Wiki entry for COL6A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011515.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL6A2 gene promoter:
TBP Elk-1 AP-1 RREB-1 SREBP-1c Nkx2-5 SREBP-1b SREBP-1a HOXA5
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for COL6A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL6A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.3

COL6A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL6A2 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21P047518:	GeneLoc	Nature:405,311-319
Start:	47,518,011 bp from pter	33,051,649 bp from centromere
End:	47,552,763 bp from pter	33,059,229 bp from centromere
Size:	34,753 bases	7,581 bases
Orientation:	plus strand	plus strand

Whole chromosome sequencing:
cDNA sequence:	X15882
genomic clones:	PP8G4

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110 (See protein sequence)

Recommended Name: Collagen alpha-2(VI) chain precursor

Size: 1019 amino acids; 108579 Da

Subunit: 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

Subcellular location: Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein.

Note=Recruited on membranes by CSPG4

Secondary accessions: Q13909 Q13910 Q13911 Q14048 Q14049 Q16259 Q16597 Q6P0Q1 Q9UML3 Q9Y4S8

Alternative splicing: 3 isoforms: P12110-1 P12110-2 P12110-3

Explore the universe of human proteins at neXtProt for COL6A2: NX_P12110

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P12110

COL6A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001840.3 NP_478054.2 NP_478055.2

ENSEMBL proteins:

ENSP00000300527 ENSP00000390418 ENSP00000387115 ENSP00000380870 ENSP00000395751

ENSP00000350497 ENSP00000312529

Reactome Protein details: P12110
Human Recombinant Protein Products:

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	Novus Biologicals COL6A2 Protein Novus Biologicals COL6A2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	NAS	--
GO:0005581	collagen	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL6A2 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL6A2 for domains About GeneDecksing

2 InterPro domains/families:

IPR008160 Collagen

IPR002035 VWF_A

Graphical View of Domain Structure for InterPro Entry P12110

ProtoNet protein and cluster: P12110

3 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110

Similarity: Belongs to the type VI collagen family

Similarity: Contains 3 VWFA domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110

Function: Collagen VI acts as a cell-binding protein

Genatlas biochemistry entry for COL6A2:

collagen type VI,alpha 2 (140kDa),microfibrillar

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL6A2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL6A2
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate COL6A2:
		hsa-miR-525-5p hsa-miR-2276 hsa-miR-3919 hsa-miR-29a hsa-miR-29c hsa-miR-520a-5p hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: COL6A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL6A2 (see all 4) OriGene shRNA RFP: COL6A2 OriGene siRNA: COL6A2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL6A2

Gene Editing
Products:

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL6A2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL6A2 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): COL6A2 (NM_001849)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	NAS	--
GO:0005515	protein binding	IPI	12812986
GO:0030674	protein binding, bridging	NAS	--

COL6A2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

NCAM signaling for neurite out-growth

NCAM signaling for neurite out-growth

1.00

NCAM1 interactions

0.62

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL6A2 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

1 BioSystems Pathway for COL6A2

Focal Adhesion

5/13 Reactome Pathways for COL6A2 (see all 13)

	Developmental Biology
	Secretion of collagens
	NCAM1 interactions
	Assembly of collagen fibrils and other multimeric structures
	NCAM signaling for neurite out-growth

3 Kegg Pathways (Kegg details for COL6A2):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption

COL6A2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL6A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/73 Interacting proteins for COL6A2 (P12110^{1, 3} ENSP00000300527⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 73)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DISC1	Q9NRI5¹^,³, ENSP00000355596⁴	EBI-928749,EBI-529989 I2D: score=2 STRING: ENSP00000355596
ABCD3	P28288³, ENSP00000359233⁴	I2D: score=2 STRING: ENSP00000359233
FN1	P02751³, ENSP00000346839⁴	I2D: score=2 STRING: ENSP00000346839
COL6A1	P12109³, ENSP00000355180⁴	I2D: score=1 STRING: ENSP00000355180
PXN	P49023³	I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007411	axon guidance	TAS	--
GO:0009749	response to glucose stimulus	--	--
GO:0016337	cell-cell adhesion	NAS	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0070208	protein heterotrimerization	IPI	18400749

COL6A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

COL6A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL6A2
1 Novoseek chemical compound relationship for COL6A2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine	16.5	1	17785673 (1)

Search CenterWatch for drugs/clinical trials and news about COL6A2 / CO6A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL6A2 gene (3 alternative transcripts):

NM_001849.3 NM_058174.2 NM_058175.2

Unigene Cluster for COL6A2:

Collagen, type VI, alpha 2

Hs.420269 [show with all ESTs]

Unigene Representative Sequence: BC065509

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000300527(uc002zia.1) ENST00000436769 ENST00000409416 ENST00000397763

ENST00000460886 ENST00000485591 ENST00000413758 ENST00000357838(uc002zhz.1)

ENST00000310645(uc002zhy.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL6A2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL6A2
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate COL6A2:
		hsa-miR-525-5p hsa-miR-2276 hsa-miR-3919 hsa-miR-29a hsa-miR-29c hsa-miR-520a-5p hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: COL6A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL6A2 (see all 4) OriGene shRNA RFP: COL6A2 OriGene siRNA: COL6A2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL6A2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL6A2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL6A2 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): COL6A2 (NM_001849)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL6A2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A2

Additional cDNA sequence:

AK093995.1 AL360197.1 AY029208.1 BC002484.2 BC065509.1 BT006913.1 CR536573.1 M34570.1

M34573.1 X06195.1 X15977.1

24/39 DOTS entries (see all 39):

DT.86997407 DT.100880840 DT.91733836 DT.97813008 DT.100880862 DT.95276882 DT.100880848 DT.92461051

DT.91922393 DT.100880869 DT.102840102 DT.92461064 DT.95276893 DT.100880858 DT.100880881 DT.121131496

DT.102840100 DT.102840099 DT.100045150 DT.95276894 DT.100880867 DT.102840106 DT.121131477 DT.121131551

24/1040 AceView cDNA sequences (see all 1040):

AI084634 CB216903 CF125632 CA407175 BM729154 AA454905 BM716269 CR607797

AI245974 AA045242 CO398568 AI753814 AI094326 BQ371456 BE311824 T28493

CB162556 BM682989 CR611112 BM989780 BG682343 CF126032 AL046744 AI131070

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for COL6A2 (see all 8) About this scheme

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:			-		-

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

ECgene alternative splicing isoforms for COL6A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL6A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCTAAGCG

About this image

COL6A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Cartilage

Cervical Intervertebral Disc

Intervertebral Disc Annulus Fibrosus Cells

Selective marker (cell-identifying gene)

Cartilage

Lumbar Intervertebral Disc

Intervertebral Disc Annulus Fibrosus Cells

Cartilage

Sacral Intervertebral Disc

Intervertebral Disc Annulus Fibrosus Cells

Cartilage

Thoracic Intervertebral Disc

Intervertebral Disc Annulus Fibrosus Cells

Cartilage

Cartilage

Lumbar Intervertebral Disc

Cartilage

Testis

Seminiferous Tubules

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (A scalable, suspensi...)

See COL6A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL6A2

SOURCE GeneReport for Unigene cluster: Hs.420269

SABiosciences Expression via Pathway-Focused PCR Array including COL6A2:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL6A2 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for COL6A2 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL6A2¹	collagen, type VI, alpha 2	70.63(n) 73.35(a)		396292 NM_205348.2 NP_990679.1
lizard (Anolis carolinensis)	Reptilia	COL6A2⁶	--	69(a)	1 ↔ 1	1(123192607-123244010)
African clawed frog (Xenopus laevis)	Amphibia	CB198354.2²	--	73.27(n)		CB198354.2
zebrafish (Danio rerio)	Actinopterygii	col6a2¹	collagen, type VI, alpha 2	62.11(n) 62.28(a)		567771 XM_691072.4 XP_696164.2

ENSEMBL Gene Tree for COL6A2 (if available)
TreeFam Gene Tree for COL6A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL6A2 gene

COL28A1² COL6A1² COL6A6² COL6A5² COL6A3²

16 SIMAP similar genes for COL6A2 using alignment to 4 protein entries: CO6A2_HUMAN (see all proteins):

COL1A1 COL6A1 COL11A2 COL25A1 COL7A1 COL24A1

MARCO COLQ COL4A3 COL13A1 COL10A1 COL21A1

COL27A1 COL4A2 COL6A5 COL6A6

COL6A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117725825^1,2	C,F	pathogenic	47552201(+)	`CAGCCC/TGCGTG`	2	P L	mis¹		2		NA EU	4841
rs189737018^1,2		--	47516076(+)	`CTGTCA/GGCTCC`	3	--	us2k¹		0	--	--	--	--
rs148125692^1,2	C,	--	47516251(+)	`GGAAA-/CCTGCC`	3	--	us2k¹		0	--	--	--	--
rs180789451^1,2		--	47516255(+)	`AACTGC/TCACAC`	3	--	us2k¹		0	--	--	--	--
rs914244^1,2	C,F,A,H,	--	47516351(+)	`AAAGAC/TTACCC`	3	--	us2k¹		25		NS EA NA WA CSA	2354
rs186712652^1,2		--	47516501(+)	`TGACTA/GGAGAT`	3	--	us2k¹		0	--	--	--	--
rs2156431^1,2	C,F,A,H,	--	47516540(+)	`TGGGGA/GGGTGG`	3	--	us2k¹		13		NA WA CSA EA	376
rs113674538^1,2	C,	--	47516546(+)	`GGTGGC/TCAAAG`	3	--	us2k¹		2		WA	120
rs34686582^1,2	C,F,H,	--	47516556(+)	`GAGGAC/TGGAAG`	3	--	us2k¹		14		NS EA NA	1534
rs77147179^1,2	F,	--	47516741(+)	`AGCAGG/CAGGCA`	3	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for COL6A2 (47518011 - 47552763 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for COL6A2
1 CNV: 50789
1 Indel: 12251
Human Gene Mutation Database (HGMD): COL6A2

Locus Specific Mutation Databases (LSDB): COL6A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COL6A2 for disorders           About GeneDecksing

OMIM gene information: 120240
OMIM disorders: 158810  254090  255600
UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110

Defects in COL6A2 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal

myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most

frequently affecting the elbows and ankles

Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as

Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive 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

Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR) [MIM:255600]; also known as

myosclerotic myopathy or congenital myosclerosis of Lowenthal. 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

19 diseases for COL6A2: About MalaCards

scleroatonic muscular dystrophy bethlem myopathy muscular dystrophy ullrich congenital muscular dystrophy

collagen type vi-related disorders myopathy myosclerosis, congenital myosclerosis, autosomal recessive

congenital muscular dystrophy congenital heart defect intracranial aneurysm was-related disorders

hematuria down syndrome muscle disorders adrenoleukodystrophy

endocarditis retinitis autosomal recessive myosclerosis myopathy

2 diseases from the University of Copenhagen DISEASES database for COL6A2:

Myopathy Neuropathy

6 Novoseek disease relationships for COL6A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ullrich congenital muscular dystrophy	98.4	16	12218063 (2), 16447767 (2), 18761340 (1), 15563506 (1) (see all 14)
bethlem myopathy	97.2	11	15563506 (2), 16447767 (1), 8817344 (1), 18366090 (1) (see all 9)
contracture	73.2	3	15563506 (1), 8817344 (1), 12840783 (1)
muscular dystrophies	70.2	1	14755496 (1)
myopathy	60.5	3	18761340 (1), 20302629 (1), 8817344 (1)
down syndrome	47.2	3	8094066 (2), 9491853 (1)

GeneTests: COL6A2

Collagen Type VI-Related Disorders

Human Genome Epidemiology (HuGE) Navigator: COL6A2 (1 document)

Export disorders for COL6A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COL6A2 gene, integrated from 9 sources (see all 74):
(articles sorted by number of sources associating them with COL6A2)

Utopia: connect your pdf to the dynamic
world of online information

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (PubMed id 15563506)^{1, 2, 9} Baker N.L.... Lamande S.R. (2005)
Autosomal recessive myosclerosis myopathy is a collagen VI disorder. (PubMed id 18852439)^{1, 2} Merlini L....Bonaldo P. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (PubMed id 11865138)^{1, 2} Scacheri P.C.... Hoffman E.P. (2002)
The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. (PubMed id 9099729)^{1, 2} Tillet E.... Stallcup W.B. (1997)
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (PubMed id 8782832)^{1, 2} Joebsis G.J.... Bohlhuis P.A. (1996)
Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. (PubMed id 8168508)^{1, 2} Tillet E.... Timpl R. (1994)
Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface. (PubMed id 8305732)^{1, 2} Nishiyama A. and Stallcup W.B. (1993)
Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon. (PubMed id 1556127)^{1, 2} Saitta B.... Chu M.-L. (1992)
The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar. (PubMed id 1765372)^{1, 2} Saitta B....Chu M.-L. (1991)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1292	HGNC: 2212	AceView: COL6A2	Ensembl:ENSG00000142173	euGenes: HUgn1292
ECgene: COL6A2	Kegg: 1292	H-InvDB: COL6A2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COL6A2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A2

Intellectual Property for COL6A2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COL6A2 gene:
Search GeneIP for patents involving COL6A2

GeneCards and IP:
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COL6A2 Gene

collagen, type VI, alpha 2

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COL6A2 Gene

collagen, type VI, alpha 2

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