GenTIGS

Laminin subunit alpha 2 (LAMA2) Associated conditions: 1. Merosin deficient congenital muscular dystrophy 2. LAMA2-related muscular dystrophy

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_000426.4	NP_000417.3	NC_000006.12	(128883137..129516565)	Reference GRCh38.p14 Primary Assembly	Q59H37
2	REVIEWED	NM_001079823.2	NP_001073291.2	NC_000006.12	(128883137..129516565)	Reference GRCh38.p14 Primary Assembly	Q59H37

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 1125 reference articles

Variant Information Laminin subunit alpha 2 (LAMA2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Laminin subunit alpha 2 (LAMA2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Laminin subunit alpha 2 (LAMA2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	signaling receptor binding	Function	-
2	Homo sapiens	TAS	enables	structural molecule activity	Function	2185464
3	Homo sapiens	RCA	enables	extracellular matrix structural constituent	Function	25037231 27068509 27559042 28675934
4	Homo sapiens	TAS	located_in	extracellular region	Component	-
5	Homo sapiens	IDA	located_in	basement membrane	Component	2099832 14557481
6	Homo sapiens	NAS	located_in	basement membrane	Component	1678389
7	Homo sapiens	IEA	involved_in	cell adhesion	Process	-
8	Homo sapiens	IEA	involved_in	axon guidance	Process	-
9	Homo sapiens	TAS	involved_in	muscle organ development	Process	7550355
10	Homo sapiens	IEA	involved_in	Schwann cell differentiation	Process	-
11	Homo sapiens	IEA	involved_in	regulation of cell migration	Process	-
12	Homo sapiens	IEA	located_in	neuromuscular junction	Component	-
13	Homo sapiens	IEA	involved_in	positive regulation of synaptic transmission, cholinergic	Process	-
14	Homo sapiens	NAS	acts_upstream_of_or_within	maintenance of blood-brain barrier	Process	30280653
15	Homo sapiens	IEA	located_in	sarcolemma	Component	-
16	Homo sapiens	IEA	located_in	synaptic cleft	Component	-
17	Homo sapiens	IEA	located_in	dendritic spine	Component	-
18	Homo sapiens	NAS	involved_in	positive regulation of cell adhesion	Process	3794389
19	Homo sapiens	IEA	involved_in	regulation of embryonic development	Process	-
20	Homo sapiens	NAS	involved_in	positive regulation of muscle cell differentiation	Process	26555376
21	Homo sapiens	HDA	located_in	collagen-containing extracellular matrix	Component	25037231 27068509 27559042 28675934
22	Homo sapiens	NAS	part_of	protein complex involved in cell-matrix adhesion	Component	3109910
23	Homo sapiens	NAS	involved_in	regulation of basement membrane organization	Process	2119632
24	Homo sapiens	NAS	involved_in	positive regulation of integrin-mediated signaling pathway	Process	23948589