GenTIGS

Collagen type VI alpha 2 chain (COL6A2) Associated conditions: 1. Bethlem myopathy

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_001849.4	NP_001840.3	NC_000021.9	(46098111..46132847)	Reference GRCh38.p14 Primary Assembly	P12110
2	REVIEWED	NM_058174.3	NP_478054.2	NC_000021.9	(46098111..46132847)	Reference GRCh38.p14 Primary Assembly	P12110
3	REVIEWED	NM_058175.3	NP_478055.2	NC_000021.9	(46098111..46132847)	Reference GRCh38.p14 Primary Assembly	P12110

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 182 reference articles

Variant Information Collagen type VI alpha 2 chain (COL6A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type VI alpha 2 chain (COL6A2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Collagen type VI alpha 2 chain (COL6A2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	12812986
2	Homo sapiens	IPI	enables	collagen binding	Function	18400749
3	Homo sapiens	HDA	located_in	extracellular region	Component	27068509
4	Homo sapiens	IDA	located_in	extracellular region	Component	18400749
5	Homo sapiens	TAS	located_in	extracellular region	Component	-
6	Homo sapiens	IEA	part_of	collagen trimer	Component	-
7	Homo sapiens	HDA	located_in	extracellular space	Component	20551380
8	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
9	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
10	Homo sapiens	IEA	involved_in	response to glucose	Process	-
11	Homo sapiens	HDA	enables	extracellular matrix structural constituent conferring tensile strength	Function	28344315
12	Homo sapiens	ISS	enables	extracellular matrix structural constituent conferring tensile strength	Function	-
13	Homo sapiens	RCA	enables	extracellular matrix structural constituent conferring tensile strength	Function	20551380 25037231 27559042 28327460 28675934
14	Homo sapiens	IPI	part_of	protein-containing complex	Component	18400749
15	Homo sapiens	IEA	located_in	sarcolemma	Component	-
16	Homo sapiens	HDA	colocalizes_with	collagen-containing extracellular matrix	Component	20551380
17	Homo sapiens	HDA	located_in	collagen-containing extracellular matrix	Component	23658023 25037231 27559042 28327460 28344315 28675934
18	Homo sapiens	IBA	is_active_in	collagen-containing extracellular matrix	Component	21873635
19	Homo sapiens	ISS	colocalizes_with	collagen-containing extracellular matrix	Component	22261194
20	Homo sapiens	HDA	located_in	extracellular exosome	Component	19199708
21	Homo sapiens	HDA	located_in	extracellular vesicle	Component	24769233