GenTIGS

Collagen type IV alpha 3 chain (COL4A3) Associated conditions: 1. Goodpasture syndrome 2. Alport syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000091.5	NP_000082.2	NC_000002.12	(227164623..227314791)	Reference GRCh38.p14 Primary Assembly	Q01955
2	REVIEWED	XR_001738601.2	-	NC_000002.12	(227164623..227314791)	Reference GRCh38.p14 Primary Assembly	Q01955

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1172 reference articles

Variant Information Collagen type IV alpha 3 chain (COL4A3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type IV alpha 3 chain (COL4A3)

ClinVar variants:Revealing mutagenic patterns

GO Term of Collagen type IV alpha 3 chain (COL4A3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	integrin binding	Function	12682293
2	Homo sapiens	TAS	enables	integrin binding	Function	10766752
3	Homo sapiens	NAS	enables	structural molecule activity	Function	3025878
4	Homo sapiens	IPI	enables	protein binding	Function	10212244 12682293
5	Homo sapiens	TAS	located_in	extracellular region	Component	-
6	Homo sapiens	IDA	part_of	collagen type IV trimer	Component	10766752
7	Homo sapiens	IBA	is_active_in	basement membrane	Component	21873635
8	Homo sapiens	IDA	located_in	basement membrane	Component	10766752
9	Homo sapiens	IBA	is_active_in	extracellular space	Component	21873635
10	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	-
11	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
12	Homo sapiens	IDA	involved_in	activation of cysteine-type endopeptidase activity involved in apoptotic process	Process	10766752
13	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
14	Homo sapiens	NAS	involved_in	cell surface receptor signaling pathway	Process	10766752
15	Homo sapiens	TAS	involved_in	sensory perception of sound	Process	7987396
16	Homo sapiens	TAS	involved_in	blood circulation	Process	10766752
17	Homo sapiens	NAS	enables	metalloendopeptidase inhibitor activity	Function	10766752
18	Homo sapiens	TAS	involved_in	negative regulation of cell population proliferation	Process	10837460
19	Homo sapiens	IEA	involved_in	response to glucose	Process	-
20	Homo sapiens	IDA	involved_in	negative regulation of angiogenesis	Process	10766752 12682293
21	Homo sapiens	HDA	enables	extracellular matrix structural constituent conferring tensile strength	Function	28344315
22	Homo sapiens	IBA	enables	extracellular matrix structural constituent conferring tensile strength	Function	21873635
23	Homo sapiens	RCA	enables	extracellular matrix structural constituent conferring tensile strength	Function	25037231 28675934
24	Homo sapiens	IBA	involved_in	extracellular matrix organization	Process	21873635
25	Homo sapiens	ISS	involved_in	glomerular basement membrane development	Process	-
26	Homo sapiens	IEA	involved_in	collagen-activated tyrosine kinase receptor signaling pathway	Process	-
27	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	-
28	Homo sapiens	HDA	located_in	collagen-containing extracellular matrix	Component	25037231 28344315 28675934
29	Homo sapiens	IDA	involved_in	endothelial cell apoptotic process	Process	10766752
30	Homo sapiens	IDA	involved_in	negative regulation of vascular endothelial cell proliferation	Process	10766752