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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL6A3 Gene

protein-coding GIFtS: 62
GCID: GC02M238248

collagen, type VI, alpha 3

Explore 22 diseases affiliated with
COL6A3 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Collagen, Type VI, Alpha 3¹ ²
Collagen Alpha-3(VI) Chain²
Collagen VI, Alpha-3 Polypeptide²

External Ids:	HGNC: 2213¹	Entrez Gene: 1293²	Ensembl: ENSG00000163359⁷	OMIM: 120250⁵	UniProtKB: P12111³

Export aliases for COL6A3 gene to outside databases

Previous GC identifers: GC02M236270 GC02M236914 GC02M238519 GC02M238014 GC02M237897 GC02M230024

(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 COL6A3:

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen

found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains.

This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor

type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare

autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich

congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive

congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but

the full-length nature of only some of these variants has been described. (provided by RefSeq, Jun 2009)

UniProtKB/Swiss-Prot: CO6A3_HUMAN, P12111

Function: Collagen VI acts as a cell-binding protein

Gene Wiki entry for COL6A3

(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)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005120.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL6A3 gene promoter:
LHX3b/Lhx3b AML1a RelA NF-kappaB POU2F1 POU2F1a LHX3a/Lhx3a NF-kappaB1 Pax-4a RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL6A3 promoter sequence

Search SABiosciences Chromatin IP Primers for COL6A3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL6A3

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

Entrez Gene cytogenetic band: 2q37 Ensembl cytogenetic band: 2q37.3 HGNC cytogenetic band: 2q37

COL6A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL6A3 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M238248: view genomic region (about GC identifiers)

Start:	238,232,646 bp from pter	End:	238,323,018 bp from pter
Size:	90,373 bases	Orientation:	minus strand

(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: CO6A3_HUMAN, P12111 (See protein sequence)

Recommended Name: Collagen alpha-3(VI) chain precursor

Size: 3177 amino acids; 343669 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)

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

4 PDB 3D structures from and Proteopedia for COL6A3:

1KNT (3D)

1KTH (3D)

1KUN (3D)

2KNT (3D)

Secondary accessions: A8MT30 B7ZMJ7 E9PFQ6 Q16501 Q53QF4 Q53QF6

Alternative splicing: 4 isoforms: P12111-1 P12111-2 P12111-3 P12111-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL6A3: NX_P12111

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

The N-terminus is blocked¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P12111

COL6A3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_004360.2 NP_476505.3 NP_476506.3 NP_476507.3 NP_476508.2

ENSEMBL proteins:

ENSP00000295550 ENSP00000418285 ENSP00000386844 ENSP00000375861 ENSP00000375860

ENSP00000389539 ENSP00000460277 ENSP00000315609 ENSP00000315873 ENSP00000295546

Reactome Protein details: P12111
Human Recombinant Protein Products for COL6A3:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005589	collagen type VI	TAS	8782832
GO:0005615	extracellular space	IDA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0030133	transport vesicle	TAS	--

COL6A3 for ontologies About GeneDecksing

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Assay Products for COL6A3:

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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

COL6A3 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003961 Fibronectin_type3

IPR002223 Prot_inh_Kunz-m

IPR013783 Ig-like_fold

IPR020901 Prtase_inh_Kunz-CS

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry P12111

ProtoNet protein and cluster: P12111

4 Blocks protein families:

IPB002035 Von Willebrand factor type A domain signature

IPB002223 Pancreatic trypsin inhibitor (Kunitz)

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO6A3_HUMAN, P12111

Similarity: Belongs to the type VI collagen family

Similarity: Contains 1 BPTI/Kunitz inhibitor domain

Similarity: Contains 5 collagen-like domains

Similarity: Contains 1 fibronectin type-III domain

Similarity: Contains 12 VWFA domains

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: CO6A3_HUMAN, P12111

Function: Collagen VI acts as a cell-binding protein

Genatlas biochemistry entry for COL6A3:

collagen type VI,alpha 3 (300kDa),microfibrillar,putative down-regulated c-Myc target gene,

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--

COL6A3 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for COL6A3:

Decreased viability with pacli

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for COL6A3

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL6A3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL6A3
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate COL6A3 (see all 28):
		hsa-miR-3149 hsa-miR-3685 hsa-miR-148b hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-301a

		SwitchGear 3'UTR luciferase reporter plasmid: COL6A3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A3

(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 COL6A3 (see all 15)

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

5/13 Reactome Pathways for COL6A3 (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 COL6A3):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption

COL6A3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL6A3

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

5/69 Interacting proteins for COL6A3 (P12111^{2, 3} ENSP00000295550⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 69)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDIA3	P30101²^,³	MINT-4301382 I2D: score=1
COL6A1	P12109³, ENSP00000355180⁴	I2D: score=1 STRING: ENSP00000355180
MMP2	P08253³, ENSP00000219070⁴	I2D: score=1 STRING: ENSP00000219070
PLCG1	P19174³	I2D: score=2
COL10A1	ENSP00000243222⁴	STRING: ENSP00000243222

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:0007155	cell adhesion	IEA	--
GO:0007411	axon guidance	TAS	--
GO:0007517	muscle organ development	TAS	8782832
GO:0009749	response to glucose stimulus	--	--
GO:0030198	extracellular matrix organization	TAS	--

COL6A3 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL6A3
Search CenterWatch for drugs/clinical trials and news about COL6A3 / CO6A3

(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, Sirion Biotech, 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 COL6A3 gene (5 alternative transcripts):

NM_004369.3 NM_057164.4 NM_057165.4 NM_057166.4 NM_057167.3

Unigene Cluster for COL6A3:

Collagen, type VI, alpha 3

Hs.233240 [show with all ESTs]

Unigene Representative Sequence: NM_004369

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

ENST00000473258 ENST00000295550(uc002vwl.2) ENST00000491769(uc002vwj.2 uc002vwp.1)

ENST00000472056 ENST00000409809 ENST00000493608 ENST00000468792 ENST00000493475

ENST00000392004(uc002vwq.3) ENST00000392003(uc002vwr.3) ENST00000433762

ENST00000491233 ENST00000347401 ENST00000353578(uc002vwo.2 uc010znj.1)

ENST00000346358(uc010znk.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL6A3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL6A3
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate COL6A3 (see all 28):
		hsa-miR-3149 hsa-miR-3685 hsa-miR-148b hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-301a

		SwitchGear 3'UTR luciferase reporter plasmid: COL6A3 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A3

Additional cDNA sequence:

AB209636.1 AK092021.1 AK303290.1 AK304870.1 AK308451.1 BC033174.1 BC144595.1 BC150625.1

BC171790.1 BX647500.1 M20778.1 M27449.1 S49432.1 X06196.1 X52022.1

21 DOTS entries:

DT.100882577 DT.418842 DT.95238570 DT.92397224 DT.95235064 DT.100031701 DT.91656644 DT.120942440

DT.100882571 DT.95212872 DT.91822008 DT.95169383 DT.121633820 DT.121635786 DT.91929100 DT.97823823

DT.120942507 DT.92455503 DT.95141963 DT.86848393 DT.99934594

24/611 AceView cDNA sequences (see all 611):

BF058993 AI597769 AI619460 BF989307 AW080749 BE350757 AA316166 AI270348

AI440217 AI445530 BC033174 AI701309 BE208320 AW241350 CA417547 CF785926

CA424413 AA670244 AI582564 AA598999 AA599468 AA359589 AW029260 AW072980

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for COL6A3 (see all 18) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	·	10c	·	10d	^	11	^	12a	·	12b	^	13a	·	13b	^	14a	·	14b	^	15	^
SP1:
SP2:
SP3:
SP4:											-		-
SP5:

ExUns:	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41a	·
SP1:
SP2:
SP3:
SP4:
SP5:	-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	41b	^	42	^	43	^	44a	·	44b	^	45a	·	45b	^	46
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for COL6A3

(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

COL6A3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACTTTAGATG

About this image

COL6A3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 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

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Trophoblast-like cells (Generation of tropho...)

Mesendoderm (Derivation and sorti...)

Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)

Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

See COL6A3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL6A3

SOURCE GeneReport for Unigene cluster: Hs.233240

SABiosciences Custom PCR Arrays for COL6A3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL6A3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL6A3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A3

(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 animals.

Orthologs for COL6A3 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL6A3¹	collagen, type VI, alpha 3	67.96(n) 64.43(a)		396548 NM_205534.1 NP_990865.1
lizard (Anolis carolinensis)	Reptilia	COL6A3⁶	--	61(a)	1 ↔ 1	1(123695212-123791234)
zebrafish (Danio rerio)	Actinopterygii	col6a3¹	collagen, type VI, alpha 3	52.23(n) 44.75(a)		556874 XM_002663369.2 XP_002663415.2
fruit fly (Drosophila melanogaster)	Insecta	pygo⁶	pygopus	7(a)	possible ortholog	3R(27401557-27406412)
worm (Caenorhabditis elegans)	Secernentea	T17H7.1⁶ col-184⁶ (see all 9)	COLlagen family member (col-184) (see all 9)	9(a) 40(a) (see all 9)	possible ortholog 1 ↔ many (see all 9)	III(740677-742969) X(13469387-13470403)

ENSEMBL Gene Tree for COL6A3 (if available)
TreeFam Gene Tree for COL6A3 (if available)

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

Paralogs for COL6A3 gene

COL28A1² COL6A1² COL6A6² COL6A2² COL6A5²

17 SIMAP similar genes for COL6A3 using alignment to 8 protein entries: CO6A3_HUMAN (see all proteins):

DKFZp686D23123 DKFZp686K04147 EPPIN SPINT3 COL21A1 ITIL

TFPI2 COL6A6 COL6A5 C1QTNF9 C1QTNF9B SPINT4

ITGA2 SFTPD COL6A1 COL9A2 DKFZp434L081

COL6A3 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 2 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434554^1,2	C	pathogenic	230082118(-)	`CCATCC/TGAGAC`	10	R *	stg¹		1	EU	1319
rs114259747^1,2	C	other	230066661(+)	`GACTCG/AAAGCC`	6	/F	syn¹		1	WA	218
rs113605869^1,2	C	--	230024202(-)	`CTTAAA/TGACTG`	3	--	ds500¹		1	NS	534
rs112994320^1,2	C	--	230024265(-)	`CCCACG/AACCCC`	3	--	ds500¹		1	NS	536
rs79015225^1,2	C,F	--	230024524(+)	`CTCCAG/CCCGGT`	3	--	ds500¹		1	NS	478
rs1050765^1,2	C,A	--	230024936(-)	`TTTTTC/TTGAAG`	3	--	ut3¹ ese³ trp³		2	MN NA	186
rs113696317^1,2	F	--	230025549(-)	`TGGCTT/CTTCCT`	3	--	int¹		1	NS	490
rs72984147^1,2	C	--	230025698(+)	`GGATGT/ACTGGG`	3	--	int¹		3	NA EA	242
rs75541025^1,2	F	--	230025750(+)	`CTTTAT/CACGAA`	3	--	int¹		1	NA	120
rs73998051^1,2	C	--	230026955(+)	`TGTGTG/ATATGC`	3	--	int¹		1	WA	2

HapMap Linkage Disequilibrium report for COL6A3 (238232646 - 238323018 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for COL6A3
1 CNV: 50421
Human Gene Mutation Database (HGMD): COL6A3

Locus Specific Mutation Databases (LSDB): COL6A3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL6A3

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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

COL6A3 for disorders           About GeneDecksing

OMIM gene information: 120250
OMIM disorders: 158810  254090
UniProtKB/Swiss-Prot: CO6A3_HUMAN, P12111

Defects in COL6A3 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 COL6A3 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

20/22 diseases for COL6A3 (see all 22): About MalaCards

ullrich congenital muscular dystrophy bethlem myopathy scleroatonic muscular dystrophy congenital muscular dystrophy

muscular dystrophy myopathy collagen type vi-related disorders tenosynovial giant cell tumor

giant cell tumor alveolar rhabdomyosarcoma was-related disorders waardenburg's syndrome

hematuria down syndrome muscle disorders rhabdomyosarcoma

gastric cancer colorectal cancer obesity retinitis

2 diseases from the University of Copenhagen DISEASES database for COL6A3:

Neuropathy Myopathy

6 Novoseek disease relationships for COL6A3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ullrich congenital muscular dystrophy	97.5	10	16447767 (1), 18761340 (1), 15563506 (1), 15689448 (1) (see all 10)
bethlem myopathy	97.2	12	15563506 (2), 10399756 (1), 16447767 (1), 18366090 (1) (see all 10)
contracture	68.1	2	15563506 (1), 12840783 (1)
myopathy	46.6	1	18761340 (1)
down syndrome	20.7	5	9491853 (3), 9497154 (2)
tumors	0	3	17601708 (1), 15949695 (1)

GeneTests: COL6A3

Collagen Type VI-Related Disorders

Human Genome Epidemiology (HuGE) Navigator: COL6A3 (4 documents)

Export disorders for COL6A3 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 COL6A3 gene, integrated from 9 sources (see all 69):
(articles sorted by number of sources associating them with COL6A3)

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

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. (PubMed id 11992252)^{1, 2, 3} Demir E.... Guicheney P. (2002)
The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon. (PubMed id 1339440)^{1, 2, 3} Zanussi S.... Colombatti A. (1992)
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. (PubMed id 9536084)^{1, 2, 9} Pan T.-C.... Speer M.C. (1998)
Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. (PubMed id 1689238)^{1, 2, 9} Chu M.-L.... Timpl R. (1990)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain. (PubMed id 9265624)^{1, 2} Soerensen M.D.... Led J.J. (1997)
Structure and multiple conformations of the Kunitz-type domain from human type VI collagen alpha3(VI) chain in solution. (PubMed id 8805527)^{1, 2} Zweckstetter M....Holak T.A. (1996)
The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen. (PubMed id 7533217)^{1, 2} Arnoux B.... Ducruix A. (1995)
Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. (PubMed id 3348212)^{1, 2} Weil D.... Chu M.-L. (1988)

(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: 1293	HGNC: 2213	AceView: COL6A3	Ensembl:ENSG00000163359	euGenes: HUgn1293
ECgene: COL6A3	Kegg: 1293	H-InvDB: COL6A3

(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 COL6A3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A3

Intellectual Property for COL6A3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COL6A3 gene:
Search GeneIP for patents involving COL6A3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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COL6A3 Gene

collagen, type VI, alpha 3

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COL6A3 Gene

collagen, type VI, alpha 3

Aliasesfor COL6A3 gene

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