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Aliases for LAMA2 Gene

Aliases for LAMA2 Gene

  • Laminin Subunit Alpha 2 2 3 5
  • Laminin-12 Subunit Alpha 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
  • Congenital Muscular Dystrophy 2
  • Merosin 2

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 and congenital muscular dystrophy type 1a. Among its related pathways are Amoebiasis and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include receptor binding and structural molecule activity. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMA2 Gene

Genomics for LAMA2 Gene

Regulatory Elements for LAMA2 Gene

Enhancers for LAMA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LAMA2 on UCSC Golden Path with GeneCards custom track

Promoters for LAMA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMA2 Gene

Chromosome:
6
Start:
128,883,141 bp from pter
End:
129,516,569 bp from pter
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; Positions=3098; Evidence={ECO:0000305}; Sequence=AAB18388.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA81394.1; Type=Frameshift; Positions=3098; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LAMA2 Gene

neXtProt entry for LAMA2 Gene

Proteomics data for LAMA2 Gene at MOPED

Post-translational modifications for LAMA2 Gene

  • Glycosylation at Asn 55, Asn 89, Asn 303, Asn 363, Asn 380, Asn 470, Asn 746, Asn 1061, Asn 1597, Asn 1614, Asn 1700, Asn 1810, Asn 1901, Asn 1916, Asn 1920, Asn 2017, Asn 2028, Asn 2045, Asn 2126, Asn 2240, Asn 2360, Asn 2435, Asn 2478, Asn 2551, Asn 2558, Asn 2648, Asn 2868, and Asn 2893
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMA2 Gene

No data available for DME Specific Peptides for LAMA2 Gene

Domains & Families for LAMA2 Gene

Gene Families for LAMA2 Gene

Suggested Antigen Peptide Sequences for LAMA2 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 17 laminin EGF-like domains.
  • Contains 5 laminin G-like domains.
  • Contains 2 laminin IV type A domains.
  • Contains 1 laminin N-terminal domain.
genes like me logo Genes that share domains with LAMA2: view

Function for LAMA2 Gene

Molecular function for LAMA2 Gene

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
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.

Gene Ontology (GO) - Molecular Function for LAMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 2185464
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:

Animal Model 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
Jensen Localization Image for LAMA2 Gene COMPARTMENTS Subcellular localization image for LAMA2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LAMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA,IDA 2099832
genes like me logo Genes that share ontologies with LAMA2: view

Pathways & Interactions for LAMA2 Gene

genes like me logo Genes that share pathways with LAMA2: view

SIGNOR curated interactions for LAMA2 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0022011 myelination in peripheral nervous system IEA --
GO:0030334 regulation of cell migration IEA --
genes like me logo Genes that share ontologies with LAMA2: view

Drugs & Compounds for LAMA2 Gene

(2) Drugs for LAMA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMA2: view

Transcripts for LAMA2 Gene

Unigene Clusters for LAMA2 Gene

Laminin, alpha 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for LAMA2 Gene

GeneLoc Exon Structure for
LAMA2
ECgene alternative splicing isoforms for
LAMA2

Expression for LAMA2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for LAMA2 Gene



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.
genes like me logo Genes that share expression patterns with LAMA2: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LAMA2 35
  • 89.9 (n)
  • 91.95 (a)
LAMA2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMA2 35
  • 87.19 (n)
  • 89.58 (a)
LAMA2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lama2 35
  • 85.77 (n)
  • 88.64 (a)
Lama2 16
Lama2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LAMA2 35
  • 99.47 (n)
  • 99.17 (a)
LAMA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lama2 35
  • 85.51 (n)
  • 88.54 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMA2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMA2 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMA2 35
  • 73.88 (n)
  • 74.03 (a)
LAMA2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lama2 35
  • 66.19 (n)
  • 64.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12786 35
zebrafish
(Danio rerio)
Actinopterygii Dr.20585 35
lama2 35
  • 61.47 (n)
  • 60.27 (a)
lama2 36
  • 66 (a)
OneToMany
LAMA2 (2 of 2) 36
  • 46 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.577 35
fruit fly
(Drosophila melanogaster)
Insecta wb 37
  • 35 (a)
wb 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-3 35
  • 47.09 (n)
  • 36.36 (a)
lam-3 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for LAMA2:
  • 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)

Paralogs for LAMA2 Gene

Paralogs for LAMA2 Gene

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

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

Variants for LAMA2 Gene

Sequence variations from dbSNP and Humsavar for LAMA2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs118083923 - 129,192,705(+) GTATC(A/T)GACTG reference, missense
rs3816665 - 129,250,185(-) GAACA(C/T)GTTCT reference, missense
rs35277491 - 129,291,620(-) TACAG(A/C/T)GACAG reference, missense
VAR_004168 -
VAR_004169 -

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

Variant ID Type Subtype PubMed ID
nsv830802 CNV Gain 17160897
nsv823840 CNV Loss 20364138
esv2672159 CNV Deletion 23128226
esv2732692 CNV Deletion 23290073
dgv2008e1 CNV Complex 17122850
esv2677740 CNV Deletion 23128226
nsv886655 CNV Loss 21882294
nsv5473 CNV Loss 18451855
nsv508429 CNV Loss 20534489
nsv436523 CNV Deletion 17901297
nsv499655 CNV Loss 21111241
esv2732693 CNV Deletion 23290073
nsv507359 CNV Insertion 20534489
nsv830803 CNV Gain 17160897
esv2129462 CNV Deletion 18987734
esv33261 CNV Loss 17666407
nsv517933 CNV Loss 19592680
esv1990859 CNV Deletion 18987734
nsv348464 CNV Loss 16902084
nsv348924 CNV Loss 16902084
esv259520 OTHER Complex 20981092
nsv348787 CNV Insertion 16902084
nsv350076 CNV Insertion 16902084
nsv350022 CNV Insertion 16902084
nsv528240 CNV Loss 19592680
nsv512894 CNV Insertion 21212237
esv1619204 CNV Insertion 17803354
esv33666 CNV Gain 17666407
esv33659 CNV Gain 17666407
esv32679 CNV Gain 17666407
esv269819 CNV Insertion 20981092
esv274524 CNV Insertion 20981092
esv2481557 CNV Deletion 19546169
esv2732696 CNV Deletion 23290073
esv2393123 CNV Deletion 18987734
esv4704 CNV Deletion 18987735
esv2678689 CNV Deletion 23128226
nsv348741 CNV Loss 16902084
esv2621974 CNV Deletion 19546169
esv1153219 CNV Deletion 17803354
esv7931 CNV Loss 19470904
esv33104 CNV Gain 17666407
esv33882 CNV Loss 17666407
esv2560686 CNV Insertion 19546169
esv272629 CNV Insertion 20981092
esv271598 CNV Insertion 20981092
nsv5474 CNV Insertion 18451855
nsv886656 CNV Loss 21882294
esv273133 CNV Insertion 20981092
esv271241 CNV Insertion 20981092

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)

Relevant External Links for LAMA2 Gene

HapMap Linkage Disequilibrium report
LAMA2
Human Gene Mutation Database (HGMD)
LAMA2

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

Disorders for LAMA2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for LAMA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, congenital merosin-deficient
  • muscular dystrophy, congenital, due to partial lama2 deficiency
congenital muscular dystrophy type 1a
  • lama2-related muscular dystrophy
lama2-related muscular dystrophy
  • early-onset laminin alpha 2 deficiency
muscular dystrophy
  • muscular dystrophies
muscular dystrophy-dystroglycanopathy , type a, 4
  • fukuyama congenital muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search LAMA2 in MalaCards View complete list of genes associated with diseases

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMA2

Genetic Association Database (GAD)
LAMA2
Human Genome Epidemiology (HuGE) Navigator
LAMA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMA2
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. (J. Cell Biol. 1994) 2 3 4 23 67
  2. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (PMID: 20207543) Geranmayeh F. … Muntoni F. (Neuromuscul. Disord. 2010) 3 23
  3. Crystal structure of the LG1-3 region of the laminin alpha2 chain. (PMID: 19553699) Carafoli F. … Hohenester E. (J. Biol. Chem. 2009) 3 23
  4. Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. (PMID: 19692349) Vishnudas V.K. … Miller J.B. (Hum. Mol. Genet. 2009) 3 23
  5. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. (PMID: 18700894) Oliveira J. … Bronze-da-Rocha E. (Clin. Genet. 2008) 3 23

Products for LAMA2 Gene

Sources for LAMA2 Gene

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