Gene Name	COL6A3
Gene ID	1293
Gene Full Name	collagen type VI alpha 3 chain
Gene Alias	BTHLM1|BTHLM1C|DYT27|UCMD1|UCMD1C
Transcripts	ENSG00000163359
Virus	HBV
Gene Type	protein-coding
HPA Location Info	Endoplasmic reticulum;Vesicles;Secreted to extracellular matrix;
Membrane Info	Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Uniport_ID	P12111
HGNC ID	HGNC:2213
OMIM ID	120250
Summary	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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
1009089	chr2	13	4	0	17	View
1022871	chr2	13	4	0	17	View
1024716	chr2	97	81	13	191	View
1042643	chr2	64	2	0	66	View

Data ID	Experiment type	Sample number	Platform
GSE236281	RNA-seq	12	Illumina MiSeq (Homo sapiens)
C   GSE68402	Chip-seq	26	Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens)
TCGA_LIHC_HBV	DNA methylation sequencing;RNA-seq	97	TCGA
GSE224901	RNA-seq	21	Illumina NovaSeq 6000 (Homo sapiens)
GSE100400	Chip-seq;RNA-seq;4C_cccDNA	31	Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus)
GSE173897	RNA-seq	95	Illumina HiSeq 4000 (Homo sapiens)
GSE262515	RNA-seq	21	Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus)
GSE110345	RNA-seq	4	Illumina HiSeq 2500 (Homo sapiens)
C   GSE131257	ATAC-seq;RNA-seq	19	Illumina HiSeq 2500 (Homo sapiens)
GSE94660	RNA-seq	42	Illumina HiSeq 2500 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE68402 - COL6A3 peak across samples

Peak Plot

> Dataset: GSE131257 - COL6A3 peak across samples

Peak Plot