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LAMA2 Gene

protein-coding   GIFtS: 65
GCID: GC06P129246

Laminin, Alpha 2


(Previous symbol: LAMM)
  See LAMA2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Laminin, Alpha 21 2     Laminin-4 Subunit Alpha2 3
LAMM1 2 3 5     Merosin Heavy Chain2 3
Laminin M Chain2 3     Congenital Muscular Dystrophy1
Laminin-12 Subunit Alpha2 3     merosin1
Laminin-2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, alpha 2) is a protein-coding gene. Diseases associated with LAMA2 include muscular dystrophy, congenital, due to partial lama2 deficiency, and congenital muscular dystrophy type 1a. GO annotations related to this gene include structural molecule activity and receptor binding. An important paralog of this gene is LAMC1.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 plasmidLAMA2 promoter sequence
   Search Chromatin IP Primers for LAMA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for LAMA2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn55, Asn89, Asn303, Asn363, Asn380, Asn470, Asn746, Asn1061, Asn1597, Asn1614,
                                 Asn1700, Asn1810, Asn1901, Asn1916, Asn1920, Asn2017, Asn2028, Asn2045, Asn2126, Asn2240 (see all 28)
  • Modification sites at PhosphoSitePlus

  • See LAMA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000417.2  NP_001073291.1  

    ENSEMBL proteins: 
     ENSP00000400365  
    Reactome Protein details: P24043

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for LAMA2 (3 products) 

     
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    LAMA2 Assay Products:

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    antibodies-online kits for LAMA2 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LAM: Laminins

    Selected InterPro protein domains (see all 10):
     IPR018031 Laminin_B_subgr
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G

    Graphical View of Domain Structure for InterPro Entry P24043

    ProtoNet protein and cluster: P24043

    5 Blocks protein domains:
    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


    Find genes that share domains with LAMA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IEA--
    GO:0005198structural molecule activity TAS2185464
    GO:0005515protein binding ----
         
    Find genes that share ontologies with LAMA2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for LAMA2:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Lama2):
     behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  muscle 
     nervous system  other  reproductive system  skeleton 

    Find genes that share phenotypes with LAMA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lama2tm1Stk for LAMA2

       genOway: Develop your customized and physiologically relevant rodent model for LAMA2

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    SwitchGear 3'UTR luciferase reporter plasmidLAMA2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAMA2_HUMAN, P24043: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IDA14557481
    GO:0005605basal lamina ----
    GO:0005606laminin-1 complex IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with LAMA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LAMA2 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with LAMA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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
    Alpha6-Beta4 Integrin Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy

    3 Reactome Pathways for LAMA2
        ECM proteoglycans
    Laminin interactions
    Non-integrin membrane-ECM interactions


    Selected Kegg Pathways  (Kegg details for LAMA2) (see all 11):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMA2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LAMA2

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

    Selected Interacting proteins for LAMA2 (P240432, 3 ENSP000004003654) via UniProtKB, MINT, STRING, and/or I2D (see all 144)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMB2P552683, ENSP000003071564I2D: score=1 STRING: ENSP00000307156
    LAMC3Q9Y6N63, ENSP000003543604I2D: score=1 STRING: ENSP00000354360
    RPSAP088653, ENSP000003460674I2D: score=1 STRING: ENSP00000346067
    LAMB1P079423, ENSP000002223994I2D: score=1 STRING: ENSP00000222399
    LAMC1P110473, ENSP000002583414I2D: score=1 STRING: ENSP00000258341
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance IEA--
    GO:0007517muscle organ development TAS7550355
    GO:0016192vesicle-mediated transport ----
    GO:0022011myelination in peripheral nervous system IEA--

    Find genes that share ontologies with LAMA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAMA2

    4 Novoseek inferred 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)



    Find genes that share compounds with LAMA2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Additional mRNA sequence: 

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

    5 DOTS entries:

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

    Selected AceView cDNA sequences (see all 128):

    BX501430 AW950665 AI954438 BQ632400 BX495567 CA421469 BM684683 C02228 
    BX107745 CR610868 R97795 AA344840 AA401563 AA412661 BI492593 AA442826 
    AI636560 AA400308 AW665403 AK026829 BX499688 BG105147 CD608521 AL710575 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LAMA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATAGAAT
    LAMA2 Expression
    About this image


    LAMA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Atrioventricular Node
    LAMA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMA2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including LAMA2: 
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    In Situ
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LAMA2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lama21 , 5 laminin, alpha 21, 5 85.77(n)1
    88.64(a)1
      10 (14.23 cM)5
    167731  NM_008481.21  NP_032507.21 
     269812885 
    chicken
    (Gallus gallus)
    Aves LAMA21 laminin, alpha 2 73.88(n)
    74.03(a)
      421709  XM_419746.4  XP_419746.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    74(a)
    73(a)
    1 ↔ many
    1 ↔ many
    GL343315.1(1113516-1366777)
    GL343315.1(754389-940168)
    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 lam-3 47.09(n)
    36.36(a)
      172952  NM_060374.4  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)
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    Paralogs for LAMA2 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMC32  LAMA42  LAMA32  USH2A2  
    LAMB42  LAMB22  LAMB12  
    6 SIMAP similar genes for LAMA2 using alignment to 1 protein entry:     LAMA2_HUMAN:
    LAMA1    LAMB4    LAMA3    LAMA5    LAMC1    LamA3

    Find genes that share paralogs with LAMA2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LAMA2 (see all 13160)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0157444
    Merosin-deficient congenital muscular dystrophy 1A (MDC1A)4--see VAR_0157442 C R mis40--------
    VAR_0157434
    Merosin-deficient congenital muscular dystrophy 1A (MDC1A)4--see VAR_0157432 C Y mis40--------
    VAR_0358194
    A breast cancer sample4--see VAR_0358192 P A mis40--------
    VAR_0157454
    Merosin-deficient congenital muscular dystrophy 1A (MDC1A)4--see VAR_0157452 L P mis40--------
    rs1219135771,2
    Cpathogenic1129620791(+) CCCTGA/CAACTG 4 * C stg10--------
    rs1129512911,2
    F--126783665(+) TAAAAA/TTAATC 2 -- us2k13Minor allele frequency- T:0.08CSA WA NA 239
    rs1127476571,2
    F--126863770(+) TATACG/AACTGC 2 -- int12Minor allele frequency- A:0.14CSA WA 120
    rs2007080641,2
    C--127001524(-) GAAAAA/CAAAAA 2 -- int10--------
    rs58799251,2
    C--127011908(+) TCTTT-/AAAAAT 2 -- int10--------
    rs30612011,2
    C--127012493(+) AAAAA-/AAGTTCT 2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for LAMA2 (129204286 - 129454286 bp, first 250kb of LAMA2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LAMA2 (see all 50):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677740CNV Deletion23128226
    esv2129462CNV Deletion18987734
    esv2481557CNV Deletion19546169
    esv2732692CNV Deletion23290073
    nsv436523CNV Deletion17901297
    esv1990859CNV Deletion18987734
    esv2621974CNV Deletion19546169
    esv2678689CNV Deletion23128226
    esv2732693CNV Deletion23290073
    esv2732696CNV Deletion23290073

    Human Gene Mutation Database (HGMD): LAMA2
    Locus Specific Mutation Databases (LSDB): LAMA2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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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    OMIM gene information: 156225   
    OMIM disorders: 607855  
    UniProtKB/Swiss-Prot: LAMA2_HUMAN, P24043
  • Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855]: Characterized by difficulty
    walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for LAMA2:    
    About MalaCards
    muscular dystrophy, congenital, due to partial lama2 deficiency    congenital muscular dystrophy type 1a    lama2-related muscular dystrophy    cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders
    anauxetic dysplasia    cartilage-hair hypoplasia    congenital muscular dystrophy    muscular dystrophy
    fukuyama congenital muscular dystrophy    brain disease    walker-warburg syndrome    pontocerebellar hypoplasia

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

    Find genes that share disorders with LAMA2           About GenesLikeMe

    Selected Novoseek inferred 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 10 sources (see all 229):
    (articles sorted by number of sources associating them with LAMA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Cell Biol. 1994)
    2. Merosin, a tissue-specific basement membrane protein, is a laminin- like protein. (PubMed id 2185464)1, 2, 3 Ehrig K.... Engvall E. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    3. 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. (Hum. Mutat. 2003)
    4. Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: molecular study. (PubMed id 11591858)1, 2, 9 He Y....Guicheney P. (Neurology 2001)
    5. 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. (J. Biol. Chem. 1996)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    8. 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. (amp 2002)
    9. 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. (J. Biochem. 1994)
    10. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. (PubMed id 16216942)1, 9 Di Blasi C....Mora M. (Arch. Neurol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LAMA2 Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for LAMA2 Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMA2[genesymbol]

    (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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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