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... See more...

Aliases for LAMA2 Gene

Aliases for LAMA2 Gene

  • Laminin Subunit Alpha 2 2 3 5
  • Laminin-12 Subunit Alpha 3 4
  • Laminin Subunit Alpha-2 3 4
  • Laminin-2 Subunit Alpha 3 4
  • Laminin-4 Subunit Alpha 3 4
  • Merosin Heavy Chain 3 4
  • Laminin, Alpha 2 2 3
  • Laminin M Chain 3 4
  • LAMM 3 4
  • Mutant Laminin Subunit Alpha 2 3
  • Congenital Muscular Dystrophy 2
  • Merosin 2
  • MDC1A 3

External Ids for LAMA2 Gene

Previous HGNC Symbols for LAMA2 Gene

  • LAMM

Previous GeneCards Identifiers for LAMA2 Gene

  • GC06P129051
  • GC06P129184
  • GC06P129246
  • GC06P126785

Summaries for LAMA2 Gene

Entrez Gene Summary for LAMA2 Gene

  • 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]

GeneCards Summary for LAMA2 Gene

LAMA2 (Laminin Subunit Alpha 2) is a Protein Coding gene. Diseases associated with LAMA2 include Muscular Dystrophy, Congenital Merosin-Deficient, 1A and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and structural molecule activity. An important paralog of this gene is LAMA1.

UniProtKB/Swiss-Prot Summary for LAMA2 Gene

  • 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 Gene

Additional gene information for LAMA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMA2 Gene

Genomics for LAMA2 Gene

GeneHancer (GH) Regulatory Elements for LAMA2 Gene

Promoters and enhancers for LAMA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J128882 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1445 4.8 HDAC2 POLR2A CTCF CEBPG GABPB1 CHD1 SIN3A RAD21 ATF4 SMARCA4 LAMA2 lnc-PTPRK-3
GH06J128066 Enhancer 0.9 Ensembl 9.7 -815.4 -815440 1.8 ZSCAN5C ZIC2 FOXA1 ZNF623 TRIM28 KLF7 ATF2 OSR2 BCL11A KLF9 lnc-THEMIS-6 SOGA3 ENSG00000227945 LAMA2 ECHDC1 LOC101928140 piR-31508-048 PTPRK
GH06J128915 Enhancer 0.3 Ensembl 11.3 +32.4 32360 0.2 HLF POLR2A LAMA2 lnc-PTPRK-3
GH06J129382 Enhancer 0.3 Ensembl 11.6 +499.4 499360 0.2 SMARCA4 RNU6-861P LAMA2 RF00017-5771
GH06J129459 Enhancer 0.2 Ensembl 10.9 +577.8 577760 2.2 RNU6-861P LAMA2 ENSG00000233351 ENSG00000226149
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMA2

Top Transcription factor binding sites by QIAGEN in the LAMA2 gene promoter:
  • aMEF-2
  • E47
  • FOXL1
  • Gfi-1
  • Hand1
  • HFH-1
  • HOXA3
  • MEF-2A
  • Pax-4a
  • RORalpha2

Genomic Locations for LAMA2 Gene

Genomic Locations for LAMA2 Gene
chr6:128,883,141-129,516,569
(GRCh38/hg38)
Size:
633,429 bases
Orientation:
Plus strand
chr6:129,204,286-129,837,714
(GRCh37/hg19)
Size:
633,429 bases
Orientation:
Plus strand

Genomic View for LAMA2 Gene

Genes around LAMA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMA2 Gene

Proteins for LAMA2 Gene

  • Protein details for LAMA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24043-LAMA2_HUMAN
    Recommended name:
    Laminin subunit alpha-2
    Protein Accession:
    P24043
    Secondary Accessions:
    • Q14736
    • Q5VUM2
    • Q93022

    Protein attributes for LAMA2 Gene

    Size:
    3122 amino acids
    Molecular mass:
    343905 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAA63215.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAB18388.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA81394.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LAMA2 Gene

neXtProt entry for LAMA2 Gene

Post-translational modifications for LAMA2 Gene

  • Glycosylation at Asn55, Asn89, Asn303, Asn363, Asn380, Asn470, Asn746, Asn1061, Asn1597, Asn1614, Asn1700, Asn1810, Asn1901, Asn1916, Asn1920, Asn2017, Asn2028, Asn2045, Asn2126, Asn2240, Asn2360, Asn2435, Asn2478, Asn2551, Asn2558, Asn2648, Asn2868, and Asn2893
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMA2_HUMAN (1439)

No data available for DME Specific Peptides for LAMA2 Gene

Domains & Families for LAMA2 Gene

Gene Families for LAMA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LAMA2 Gene

Blocks:
  • Laminin G
  • Laminin G, subdomain 1
  • Laminin-type EGF-like domain
  • Laminin I
  • Laminin B
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMA2 Gene

GenScript: Design optimal peptide antigens:
  • Merosin heavy chain (LAMA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24043

UniProtKB/Swiss-Prot:

LAMA2_HUMAN :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • Domains VI, IV and G are globular.
genes like me logo Genes that share domains with LAMA2: view

Function for LAMA2 Gene

Molecular function for LAMA2 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for LAMA2 Gene

Gene Ontology (GO) - Molecular Function for LAMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005198 structural molecule activity TAS 2185464
GO:0005201 extracellular matrix structural constituent RCA 25037231
genes like me logo Genes that share ontologies with LAMA2: view
genes like me logo Genes that share phenotypes with LAMA2: view

Human Phenotype Ontology for LAMA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMA2 Gene

MGI Knock Outs for LAMA2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMA2 Gene

Localization for LAMA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMA2 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMA2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for LAMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA,TAS 2099832
GO:0031594 neuromuscular junction IEA --
GO:0042383 sarcolemma IEA --
GO:0043083 synaptic cleft IEA --
genes like me logo Genes that share ontologies with LAMA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LAMA2 Gene

Pathways & Interactions for LAMA2 Gene

PathCards logo

SuperPathways for LAMA2 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 MET promotes cell motility
3 ERK Signaling
.61
.61
.58
.51
.49
4 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
5 Dilated cardiomyopathy (DCM)
genes like me logo Genes that share pathways with LAMA2: view

Pathways by source for LAMA2 Gene

16 Qiagen pathways for LAMA2 Gene
  • Agrin Interactions at Neuromuscular Junction
  • CDK5 Pathway
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling

Gene Ontology (GO) - Biological Process for LAMA2 Gene

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:0009887 animal organ morphogenesis IBA 21873635
GO:0009888 tissue development IBA 21873635
genes like me logo Genes that share ontologies with LAMA2: view

No data available for SIGNOR curated interactions for LAMA2 Gene

Drugs & Compounds for LAMA2 Gene

(4) Drugs for LAMA2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Laminin (925-933) Pharma Extracellular matrix glycoprotein 0

(1) Additional Compounds for LAMA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LAMA2 Gene

Compound Action Cas Number
Laminin (925-933) Extracellular matrix glycoprotein 110590-60-8
genes like me logo Genes that share compounds with LAMA2: view

Drug Products

Transcripts for LAMA2 Gene

mRNA/cDNA for LAMA2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMA2 Gene

No ASD Table

Relevant External Links for LAMA2 Gene

GeneLoc Exon Structure for
LAMA2

Expression for LAMA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMA2 Gene

This gene is overexpressed in Heart (26.9), Placenta (10.5), and Pancreas (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LAMA2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMA2

SOURCE GeneReport for Unigene cluster for LAMA2 Gene:

Hs.200841

mRNA Expression by UniProt/SwissProt for LAMA2 Gene:

P24043-LAMA2_HUMAN
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.

Evidence on tissue expression from TISSUES for LAMA2 Gene

  • Heart(5)
  • Pancreas(4.7)
  • Liver(4.2)
  • Bone marrow(4)
  • Muscle(3.3)
  • Nervous system(3.2)
  • Adrenal gland(2.8)
  • Gall bladder(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with LAMA2: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for LAMA2 Gene

Orthologs for LAMA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMA2 31 30
  • 99.47 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA2 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LAMA2 31 30
  • 89.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMA2 31 30
  • 87.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lama2 17 31 30
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Lama2 30
  • 85.51 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMA2 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA2 31 30
  • 73.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lama2 30
  • 66.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12786 30
zebrafish
(Danio rerio)
Actinopterygii lama2 31 30
  • 61.47 (n)
OneToMany
LAMA2 (2 of 2) 31
  • 46 (a)
OneToMany
Dr.20585 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.577 30
fruit fly
(Drosophila melanogaster)
Insecta wb 31 32
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-3 31 30
  • 47.09 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for LAMA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMA2 Gene

ENSEMBL:
Gene Tree for LAMA2 (if available)
TreeFam:
Gene Tree for LAMA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMA2: view image

Paralogs for LAMA2 Gene

(6) SIMAP similar genes for LAMA2 Gene using alignment to 1 proteins:

  • LAMA2_HUMAN
genes like me logo Genes that share paralogs with LAMA2: view

Variants for LAMA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMA2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
504071 Uncertain Significance: not specified 129,192,639(+) TATTTTTTAAAAATTA INTRON_VARIANT
637036 Likely Pathogenic: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 129,478,761(+) A/AT FRAMESHIFT_VARIANT
638501 Pathogenic: Congenital Muscular Dystrophy, LAMA2-related 129,154,599(+) AG/A FRAMESHIFT_VARIANT
638959 Uncertain Significance: Laminin alpha 2-related dystrophy 129,369,902(+) C/T MISSENSE_VARIANT
639440 Uncertain Significance: Laminin alpha 2-related dystrophy 129,287,944(+) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LAMA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAMA2 Gene

Variant ID Type Subtype PubMed ID
dgv3387n106 CNV deletion 24896259
dgv3388n106 CNV deletion 24896259
esv1153219 CNV deletion 17803354
esv1619204 CNV insertion 17803354
esv1990859 CNV deletion 18987734
esv2129462 CNV deletion 18987734
esv2393123 CNV deletion 18987734
esv2481557 CNV deletion 19546169
esv2560686 CNV insertion 19546169
esv2621974 CNV deletion 19546169
esv2672159 CNV deletion 23128226
esv2677740 CNV deletion 23128226
esv2678689 CNV deletion 23128226
esv2732692 CNV deletion 23290073
esv2732693 CNV deletion 23290073
esv2732696 CNV deletion 23290073
esv2759469 CNV gain 17122850
esv2761033 CNV loss 21179565
esv32679 CNV gain 17666407
esv3302546 CNV tandem duplication 20981092
esv3305542 CNV mobile element insertion 20981092
esv3306965 CNV mobile element insertion 20981092
esv3307322 CNV mobile element insertion 20981092
esv3308355 CNV mobile element insertion 20981092
esv3308860 CNV mobile element insertion 20981092
esv3310252 CNV mobile element insertion 20981092
esv33104 CNV gain 17666407
esv3325577 CNV insertion 20981092
esv33261 CNV loss 17666407
esv3344798 CNV insertion 20981092
esv3346804 CNV duplication 20981092
esv3351844 CNV insertion 20981092
esv3357656 CNV insertion 20981092
esv3361686 CNV insertion 20981092
esv33659 CNV gain 17666407
esv33666 CNV gain 17666407
esv3376268 CNV insertion 20981092
esv3381087 CNV insertion 20981092
esv33882 CNV loss 17666407
esv3400487 CNV insertion 20981092
esv3437583 CNV insertion 20981092
esv3441491 CNV duplication 20981092
esv3540452 CNV deletion 23714750
esv3540453 CNV deletion 23714750
esv3540457 CNV deletion 23714750
esv3540458 CNV deletion 23714750
esv3610747 CNV gain 21293372
esv3610752 CNV gain 21293372
esv3610754 CNV loss 21293372
esv3610756 CNV gain 21293372
esv3610757 CNV gain 21293372
esv3610758 CNV loss 21293372
esv3610759 CNV gain 21293372
esv3610760 CNV loss 21293372
esv3610761 CNV gain 21293372
esv3610763 CNV loss 21293372
esv3610764 CNV loss 21293372
esv3610766 CNV loss 21293372
esv4704 CNV loss 18987735
esv7931 CNV loss 19470904
nsv1074013 CNV deletion 25765185
nsv1074427 CNV deletion 25765185
nsv1120532 CNV tandem duplication 24896259
nsv1129765 CNV tandem duplication 24896259
nsv1132013 CNV deletion 24896259
nsv1132950 CNV insertion 24896259
nsv1139873 CNV duplication 24896259
nsv1145910 CNV deletion 26484159
nsv1150943 CNV insertion 26484159
nsv1151738 CNV duplication 26484159
nsv348464 CNV deletion 16902084
nsv348741 CNV deletion 16902084
nsv348787 CNV insertion 16902084
nsv348924 CNV deletion 16902084
nsv350022 CNV insertion 16902084
nsv350076 CNV insertion 16902084
nsv436523 CNV deletion 17901297
nsv477623 CNV novel sequence insertion 20440878
nsv499655 CNV loss 21111241
nsv507359 OTHER sequence alteration 20534489
nsv508429 CNV deletion 20534489
nsv512894 CNV insertion 21212237
nsv517933 CNV loss 19592680
nsv528240 CNV loss 19592680
nsv5473 CNV deletion 18451855
nsv5474 CNV insertion 18451855
nsv604663 CNV gain 21841781
nsv823840 CNV loss 20364138
nsv830802 CNV gain 17160897
nsv830803 CNV gain 17160897
nsv955817 CNV deletion 24416366
nsv965763 CNV duplication 23825009
nsv965764 CNV duplication 23825009
nsv965765 CNV duplication 23825009

Variation tolerance for LAMA2 Gene

Residual Variation Intolerance Score: 3.82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.11; 92.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMA2 Gene

Human Gene Mutation Database (HGMD)
LAMA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMA2 Gene

Disorders for LAMA2 Gene

MalaCards: The human disease database

(58) MalaCards diseases for LAMA2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

LAMA2_HUMAN
  • Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]: Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. {ECO:0000269 PubMed:11591858, ECO:0000269 PubMed:12552556, ECO:0000269 PubMed:24611677, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138]: A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid-adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. {ECO:0000269 PubMed:21953594, ECO:0000269 PubMed:24957499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LAMA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LAMA2: view

No data available for Genatlas for LAMA2 Gene

Publications for LAMA2 Gene

  1. Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. (PMID: 8294519) Vuolteenaho R … Tryggvason K (The Journal of cell biology 1994) 2 3 4 23 54
  2. Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. (PMID: 12552556) Tezak Z … Pegoraro E (Human mutation 2003) 3 4 23 54
  3. Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. (PMID: 11591858) He Y … Guicheney P (Neurology 2001) 3 4 23 54
  4. Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. (PMID: 8910357) Zhang X … Tryggvason K (The Journal of biological chemistry 1996) 3 4 23 54
  5. Merosin, a tissue-specific basement membrane protein, is a laminin-like protein. (PMID: 2185464) Ehrig K … Engvall E (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 54

Products for LAMA2 Gene

Sources for LAMA2 Gene