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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMA2 Gene

protein-coding GIFtS: 64
GCID: GC06P129246

laminin, alpha 2

(Previous symbol: LAMM)

Explore 39 diseases affiliated with
LAMA2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Laminin, Alpha 2¹ ²		Laminin-2 Subunit Alpha² ³
LAMM¹ ² ³ ⁵		Laminin-4 Subunit Alpha² ³
Laminin M Chain² ³		Merosin Heavy Chain² ³
Laminin-12 Subunit Alpha² ³		Laminin Subunit Alpha-2²

External Ids:	HGNC: 6482¹	Entrez Gene: 3908²	Ensembl: ENSG00000196569⁷	OMIM: 156225⁵	UniProtKB: P24043³

Export aliases for LAMA2 gene to outside databases

Previous GC identifers: GC06P128863 GC06P129051 GC06P129184 GC06P126785

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAMA2:

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the

attachment, migration, and organization of cells into tissues during embryonic development by interacting with other

extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each

other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of

the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the

cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have

been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043

Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and

organization of cells into tissues during embryonic development by interacting with other extracellular matrix

components

Gene Wiki entry for LAMA2 (Laminin, alpha 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMA2 gene promoter:
HOXA3 E47 FOXL1 Gfi-1 RORalpha2 MEF-2A HFH-1 Hand1 aMEF-2 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMA2 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMA2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22-q23 Ensembl cytogenetic band: 6q22.33 HGNC cytogenetic band: 6q22-q23

LAMA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA2 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P129246: view genomic region (about GC identifiers)

Start:	129,204,286 bp from pter	End:	129,837,714 bp from pter
Size:	633,429 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043 (See protein sequence)

Recommended Name: Laminin subunit alpha-2 precursor

Size: 3122 amino acids; 343905 Da

Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma),

which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms

with globules at each end. Alpha-2 is a subunit of laminin-2 (laminin-211 or merosin), laminin-4 (laminin-221 or

S-merosin) and laminin-12 (laminin-213). Interacts with FBLN1, FBLN2 and NID2

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component

Sequence caution: Sequence=AAA63215.1; Type=Frameshift; Positions=3098; Sequence=AAB18388.1; Type=Erroneous gene model

prediction; Sequence=CAA81394.1; Type=Frameshift; Positions=3098;

Secondary accessions: Q14736 Q5VUM2 Q93022

Explore the universe of human proteins at neXtProt for LAMA2: NX_P24043

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P24043

LAMA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000417.2 NP_001073291.1

ENSEMBL proteins:

ENSP00000400365

Reactome Protein details: P24043
Human Recombinant Protein Products for LAMA2:

	EMD Millipore Purified and/or Recombinant LAMA2 Protein
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	Novus Biologicals LAMA2 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005604	basement membrane	IDA	14557481
GO:0005605	basal lamina	--	--
GO:0005606	laminin-1 complex	IEA	--
GO:0031012	colocalizes with extracellular matrix	ISS	--

LAMA2 for ontologies About GeneDecksing

LAMA2 Antibody Products:

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	Novus Biologicals LAMA2 Antibodies
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	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for LAMA2

Assay Products for LAMA2:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for LAMA2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LAMA2 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR000034 Laminin_B_type_IV

IPR008211 Laminin_N

IPR013320 ConA-like_subgrp

IPR001791 Laminin_G

IPR009254 Laminin_I

Graphical View of Domain Structure for InterPro Entry P24043

ProtoNet protein and cluster: P24043

5 Blocks protein families:

IPB000034 Laminin B

IPB001791 Laminin G

IPB002049 Laminin-type EGF-like domain

IPB009254 Laminin I

IPB012679 Laminin G

UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043

Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil

structure

Domain: Domains VI, IV and G are globular

Similarity: Contains 17 laminin EGF-like domains

Similarity: Contains 5 laminin G-like domains

Similarity: Contains 2 laminin IV type A domains

Similarity: Contains 1 laminin N-terminal domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LAMA2_HUMAN, P24043

Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and

organization of cells into tissues during embryonic development by interacting with other extracellular matrix

components

Genatlas biochemistry entry for LAMA2:

laminin,alpha 2 polypeptide,component of cutaneous basement membrane zone binding to alpha dystroglycan,and coreceptor

of mycobacterium leprae with alpha dystroglycan,heterotrimerizing (laminin 12) with laminin beta 1 and gamma 3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	IEA	--
GO:0005198	structural molecule activity	TAS	2185464

LAMA2 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for LAMA2:

Increased gamma-H2AX phosphory

Synthetic lethal with c-Myc af

15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Lama2):

behavior/neurological	cellular	craniofacial	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	mortality/aging
muscle	nervous system	other	reproductive system	skeleton

LAMA2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lama2^tm1Stk for LAMA2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LAMA2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): LAMA2 Browse MicroRNA Expression Plasmids
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		3 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMA2:
		hsa-miR-29a hsa-miR-29c hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: LAMA2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LAMA2 (see all 4) OriGene shRNA RFP: LAMA2 OriGene siRNA: LAMA2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LAMA2
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for LAMA2
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 2): LAMA2 (NM_000426)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMA2
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat LAMA2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LAMA2
		Search LifeMap BioReagents cell lines for LAMA2
		Sirion Biotech Customized stable knockdown cell line services for LAMA2 Sirion Biotech Customized inducible knockdown cell line services for LAMA2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1.00

Arrhythmogenic right ventricular cardiomyopathy

0.99

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM)

1.00

Dilated cardiomyopathy

0.75

Pathway sources
See GeneCards unified pathways
Show all pathways

5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMA2 (see all 16)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	CDK5 Pathway
	Transendothelial Migration of Leukocytes
	Rho Family GTPases

3 BioSystems Pathways for LAMA2

	Focal Adhesion
	Arrhythmogenic right ventricular cardiomyopathy
	Alpha6-Beta4 Integrin Signaling Pathway

2 Reactome Pathways for LAMA2

	Integrin cell surface interactions
	Signal Transduction

5/10 Kegg Pathways (Kegg details for LAMA2) (see all 10):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMA2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LAMA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/39 Interacting proteins for LAMA2 (P24043^{2, 3} ENSP00000400365⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LAMB1	P07942³, ENSP00000222399⁴	I2D: score=1 STRING: ENSP00000222399
LAMB2	P55268³, ENSP00000307156⁴	I2D: score=1 STRING: ENSP00000307156
LAMC3	Q9Y6N6³, ENSP00000354360⁴	I2D: score=1 STRING: ENSP00000354360
RPSA	P08865³, ENSP00000346067⁴	I2D: score=1 STRING: ENSP00000346067
LAMC1	P11047³, ENSP00000258341⁴	I2D: score=1 STRING: ENSP00000258341

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0007411	axon guidance	IEA	--
GO:0007517	muscle organ development	TAS	7550355
GO:0030155	regulation of cell adhesion	IEA	--
GO:0030334	regulation of cell migration	IEA	--

LAMA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LAMA2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMA2
4 Novoseek chemical compound relationships for LAMA2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	37.6	4	11584042 (2), 9781539 (1)
heparin	6.07	1	10747011 (1)
oligonucleotide	0	1	8119705 (1)
calcium	0	1	10963991 (1)

Search CenterWatch for drugs/clinical trials and news about LAMA2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LAMA2 gene (2 alternative transcripts):

NM_000426.3 NM_001079823.1

Unigene Cluster for LAMA2:

Laminin, alpha 2

Hs.200841 [show with all ESTs]

Unigene Representative Sequence: NM_000426

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000421865(uc003qbn.3 uc003qbo.3 uc021zfb.1) ENST00000466230

ENST00000498257 ENST00000494137

miRNA Products:		OriGene 3'-UTR Clone (see all 2): LAMA2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMA2
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMA2:
		hsa-miR-29a hsa-miR-29c hsa-miR-29b
		SwitchGear 3'UTR luciferase reporter plasmid: LAMA2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against LAMA2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LAMA2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LAMA2 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LAMA2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LAMA2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA2

Additional cDNA sequence:

AB208922.1 AK026829.1 AK125980.1 M59832.1 Z26653.1

5 DOTS entries:

DT.446525 DT.91942849 DT.100782167 DT.75198315 DT.86842259

24/128 AceView cDNA sequences (see all 128):

CA421469 BX501430 R97795 AA344840 AW950665 BX495567 BI492593 AA412661

AA401563 BQ632400 AI954438 BX107745 C02228 CR610868 BM684683 BX489750

AW665403 AA400308 AA442826 AI459712 AL710575 BM837107 AA089585 AK125980

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LAMA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACATAGAAT

About this image

LAMA2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See LAMA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMA2

SOURCE GeneReport for Unigene cluster: Hs.200841

UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043

Tissue specificity: Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney,

adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and

bone

SABiosciences Expression via Pathway-Focused PCR Array including LAMA2:

Extracellular Matrix & Adhesion Molecules in human mouse rat

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LAMA2
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMA2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LAMA2 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	LAMA2¹	laminin, alpha 2	73.73(n) 73.82(a)	421709 XM_419746.3 XP_419746.3
African clawed frog (Xenopus laevis)	Amphibia	Xl.12786²	Xenopus laevis transcribed sequence with moderate similarity more	75.73(n)	BJ067270.1
zebrafish (Danio rerio)	Actinopterygii	Dr.20585²	Transcribed sequence with weak similarity to protein more	73.71(n)	57087370
fruit fly (Drosophila melanogaster)	Insecta	wb³	cell-cell signaling binding	35(a)	--
worm (Caenorhabditis elegans)	Secernentea	lam-3¹	Protein LAM-3	47.3(n) 36.55(a)	172952 NM_060374.3 NP_492775.2

ENSEMBL Gene Tree for LAMA2 (if available)
TreeFam Gene Tree for LAMA2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LAMA2 gene

NTN4² LAMA1² NTN5² LAMA3² LAMB2² LAMC1² LAMC2² LAMA5²

NTN3² LAMB3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² LAMB4²

NTNG2² LAMB1²

7 SIMAP similar genes for LAMA2 using alignment to 1 protein entry: LAMA2_HUMAN:

LAMA1 LAMB4 LAMA3 LAMA5 LAMC1 LamA3

NTN1

LAMA2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913577^1,2	C	pathogenic	183046004(+)	`CCCTGA/CAACTG`	4	* C	stg¹		0	--	--	--	--
rs112951291^1,2		--	126783665(+)	`TAAAAA/TTAATC`	2	--	us2k¹		3		CSA WA NA	239
rs76792903^1,2	F	--	126783892(+)	`ACACTG/AGGGCT`	2	--	us2k¹		1		NA	120
rs13209796^1,2	C,H	--	126783912(+)	`ATAAAC/TTCTCA`	2	--	us2k¹		5		NS EA NA	400
rs68101736^1,2	C,F	--	126784066(+)	`TGAATA/CATATT`	2	--	us2k¹		4		NA WA	242
rs9388669^1,2	C,H	--	126784634(+)	`TAAGGA/GCAAAA`	2	--	us2k¹		5		NS EA NA	420
rs184827309^1,2	C	--	126784903(+)	`AGAGAG/TGAAAT`	2	--	us2k¹		0	--	--	--	--
rs111531732^1,2		--	126785533(+)	`TCCCCG/AGCAGC`	2	--	ut5¹		1		CSA	2
rs10080633^1,2	C,F,H	--	126785560(+)	`CACAAG/ACCAAG`	2	--	ut5¹		11		NS EA NA WA	1478
rs35108091^1,2	C,F	--	126785916(+)	`AGAGCG/ATAGTG`	2	--	int¹		5		NA CSA WA	243

HapMap Linkage Disequilibrium report for LAMA2 (129204286 - 129454286 bp, first 250kb of LAMA2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 23 variations for LAMA2
12 CNVs: 81586 3638 94008 81585 36454 81584 22733 99705 7522 94009 7523 81587
11 Indels: 28090 12862 42618 11265 46994 62571 11266 46993 11267 11264 99704
Human Gene Mutation Database (HGMD): LAMA2

Locus Specific Mutation Databases (LSDB): LAMA2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LAMA2

DNA2.0 Custom Variant and Variant Library Synthesis for LAMA2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LAMA2 for disorders           About GeneDecksing

OMIM gene information: 156225
OMIM disorders: 607855
UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043

Defects in LAMA2 are the cause of merosin-deficient congenital muscular dystrophy type 1A (MDC1A)

[MIM:607855]. MDC1A is characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white

matter hypodensity on MRI

20/39 diseases for LAMA2 (see all 39): About MalaCards

muscular dystrophy muscle-eye-brain disease walker-warburg syndrome fukuyama congenital muscular dystrophy

limb-girdle muscular dystrophy congenital muscular dystrophy congenital muscular dystrophy type 1a inclusion body myositis

pontocerebellar hypoplasia dilated cardiomyopathy neuromuscular disease respiratory failure

malignant hyperthermia intellectual disability brain disease alport syndrome

polymicrogyria polymyositis cardiomyopathy protein s deficiency

2 diseases from the University of Copenhagen DISEASES database for LAMA2:

Myopathy Neuropathy

10/31 Novoseek disease relationships for LAMA2 gene (see all 31) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mdc1a	97.6	27	18700894 (3), 19388593 (2), 17949279 (2), 20207543 (2) (see all 16)
muscular dystrophies	95.5	153	12609502 (5), 7477753 (4), 9444358 (3), 9541105 (3) (see all 91)
fukuyama congenital muscular dystrophy	92	7	9631397 (1), 16566880 (1), 10222457 (1), 10738921 (1) (see all 7)
walker-warburg syndrome	88.5	8	7477753 (3), 8542045 (1), 9492098 (1), 9660506 (1) (see all 6)
muscle-eye-brain disease	87.2	5	8542045 (1), 11592034 (1), 11053679 (1), 8879654 (1) (see all 5)
mdc1c	84.7	1	11741828 (1)
lgmd2i	83.2	2	18645206 (2)
muscular dystrophy limb-girdle	77.1	4	9829280 (1), 19258295 (1), 11584042 (1)
limb girdle	73.3	2	16566880 (1), 11077661 (1)
muscular dystrophy becker	67.5	4	8202529 (1), 19258295 (1), 7787806 (1)

Genetic Association Database (GAD): LAMA2
Human Genome Epidemiology (HuGE) Navigator: LAMA2 (3 documents)

Export disorders for LAMA2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for LAMA2 gene, integrated from 9 sources (see all 221):
(articles sorted by number of sources associating them with LAMA2)

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Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. (PubMed id 8294519)^{1, 2, 3, 9} Vuolteenaho R....Tryggvason K. (1994)
Merosin, a tissue-specific basement membrane protein, is a laminin- like protein. (PubMed id 2185464)^{1, 2, 3} Ehrig K.... Engvall E. (1990)
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha-2 (LAMA2) deficiency. (PubMed id 12552556)^{1, 2, 9} Tezak Z.... Pegoraro E. (2003)
Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: molecular study. (PubMed id 11591858)^{1, 2, 9} He Y....Guicheney P. (2001)
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. (PubMed id 8910357)^{1, 2, 9} Zhang X.... Tryggvason K. (1996)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients. (PubMed id 12100448)^{1, 4} Wibawa T....Matsuo M. (2002)
Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression. (PubMed id 7535762)^{1, 2} Hori H.... Nagai Y. (1994)
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. (PubMed id 16216942)^{1, 9} Di Blasi C....Mora M. (2005)
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. (PubMed id 11584042)^{1, 9} Jones K.J....North K.N. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3908	HGNC: 6482	AceView: LAMA2	Ensembl:ENSG00000196569	euGenes: HUgn3908
ECgene: LAMA2	Kegg: 3908	H-InvDB: LAMA2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LAMA2	Pharmacogenomics, SNPs, Pathways
LEIDEN Muscular Dystrophy page for LAMA2	Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMA2

Intellectual Property for LAMA2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LAMA2 gene:
Search GeneIP for patents involving LAMA2

GeneCards and IP:
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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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laminin, alpha 2

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LAMA2 Gene

laminin, alpha 2

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