Gene Name	COL4A3
Gene ID	1285
Gene Full Name	collagen type IV alpha 3 chain
Gene Alias	ATS2|ATS3|ATS3A|ATS3B|BFH2
Transcripts	ENSG00000169031
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Vesicles;Endoplasmic reticulum;Secreted to extracellular matrix;
Membrane Info	Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Uniport_ID	Q01955
HGNC ID	HGNC:2204
OMIM ID	120070
Summary	Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]

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
6011966	chr2	18	6	0	24	View

Data ID	Experiment type	Sample number	Platform
C   GSE94732	Chip-seq	24	Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens)
GSE168557	Expression array	6	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
GSE52244	Expression array	15	[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]
GSE10789	Expression array	6	NCI/ATC Hs-OperonV3
GSE189602	Methylation profiling (Array)	4	Infinium MethylationEPIC
GSE136189	Methylation profiling (Array)	40	Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip

• Genome binding/occupancy profiling

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

> Dataset: GSE94732 - COL4A3 peak across samples

Peak Plot