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LAMA4 Gene

protein-coding   GIFtS: 68
GCID: GC06M112475

Laminin, Alpha 4

  See 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 41 2     Laminin Subunit Alpha-42
CMD1JJ2 5     Laminin-14 Subunit Alpha3
LAMA32 5     Laminin-8 Subunit Alpha3
LAMA4*-12     Laminin-9 Subunit Alpha3
Laminin Alpha 4 Chain2     

External Ids:    HGNC: 64841   Entrez Gene: 39102   Ensembl: ENSG000001127697   OMIM: 6001335   UniProtKB: Q163633   

Export aliases for LAMA4 gene to outside databases

Previous GC identifers: GC06M112265 GC06M112452 GC06M112536 GC06M110003


(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 LAMA4 Gene:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement
membranes. They have been implicated in a wide variety of biological processes including cell adhesion,
differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical
chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure
consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each
laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been
described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin
isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1
heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely
unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably
reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain
structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and
alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin,
alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The
RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact
function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been
described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
(provided by RefSeq, Aug 2011)

GeneCards Summary for LAMA4 Gene:
LAMA4 (laminin, alpha 4) is a protein-coding gene. Diseases associated with LAMA4 include cardiomyopathy, dilated, 1jj, and cardiomyopathy, dilated, 1w. GO annotations related to this gene include extracellular matrix structural constituent and receptor binding. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMA4_HUMAN, Q16363
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 LAMA4 (Laminin, alpha 4) 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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMA4 gene promoter:
         MEF-2A   AML1a   aMEF-2   Tal-1beta   E47   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMA4 promoter sequence
   Search Chromatin IP Primers for LAMA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMA4


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

LAMA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M112475:  view genomic region     (about GC identifiers)

Start:
112,429,134 bp from pter      End:
112,576,141 bp from pter
Size:
147,008 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMA4_HUMAN, Q16363 (See protein sequence)
Recommended Name: Laminin subunit alpha-4 precursor  
Size: 1823 amino acids; 202524 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-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and
laminin-14 (laminin-423)
Caution: Gene LAMA4 was formerly called LAMA3
Sequence caution: Sequence=BAE06109.1; Type=Erroneous initiation;
Secondary accessions: Q14731 Q14735 Q15335 Q4LE44 Q5SZG8 Q9BTB8 Q9UE18 Q9UJN9
Alternative splicing: 3 isoforms:  Q16363-1   Q16363-2   Q16363-3   

Explore the universe of human proteins at neXtProt for LAMA4: NX_Q16363

Explore proteomics data for LAMA4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn104, Asn215, Asn315, Asn465, Asn531, Asn557, Asn578, Asn581, Asn638, Asn646,
                                 Asn742, Asn758, Asn761, Asn787, Asn810, Asn1093, Asn1288, Asn1366, Asn1418
  • Modification sites at PhosphoSitePlus

  • See LAMA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001098676.2  NP_001098677.2  NP_001098678.1  NP_001098679.1  NP_002281.3  

    ENSEMBL proteins: 
     ENSP00000230538   ENSP00000429488   ENSP00000374114   ENSP00000416470   ENSP00000427837  
     ENSP00000427865   ENSP00000357629   ENSP00000430336   ENSP00000428583   ENSP00000412136  
     ENSP00000243219   ENSP00000430415   ENSP00000357627   ENSP00000398226   ENSP00000408604  
    Reactome Protein details: Q16363

    LAMA4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for LAMA4
    OriGene Custom MassSpec
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    Novus Biologicals LAMA4 Protein
    Novus Biologicals LAMA4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    LAMA4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of LAMA4
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    Novus Biologicals LAMA4 Antibodies
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    LAMA4 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 6):
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR009254 Laminin_I
     IPR002049 EGF_laminin
     IPR010307 Laminin_II

    Graphical View of Domain Structure for InterPro Entry Q16363

    ProtoNet protein and cluster: Q16363

    2 Blocks protein domains:
    IPB001791 Laminin G
    IPB009254 Laminin I


    UniProtKB/Swiss-Prot: LAMA4_HUMAN, Q16363
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domain G is globular
    Similarity: Contains 4 laminin EGF-like domains
    Similarity: Contains 5 laminin G-like domains


    LAMA4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMA4_HUMAN, Q16363
    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 LAMA4:
    laminin,alpha 4 polypeptide,component of cutaneous basement membrane zone,forming heteromeric molecule with a beta
    and a gamma chain

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004713protein tyrosine kinase activity ----
    GO:0004871signal transducer activity ----
    GO:0005102receptor binding IEA--
    GO:0005201extracellular matrix structural constituent TAS7959779
    GO:0005515protein binding ----
         
    LAMA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMA4:
     Decreased viability with pacli 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lama4):
     behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  muscle  nervous system 
     other 

    LAMA4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lama4tm1Ktry for LAMA4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMA4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMA4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMA4

    miRNA
    Products:
        
    miRTarBase miRNAs that target LAMA4:
    hsa-mir-93-3p (MIRT038757), hsa-mir-124-3p (MIRT022144)

    Block miRNA regulation of human, mouse, rat LAMA4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LAMA4 (see all 16):
    hsa-miR-1226 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-188-5p hsa-miR-539 hsa-miR-148b hsa-miR-197 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidLAMA4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LAMA4
    Predesigned siRNA for gene silencing in human, mouse, rat LAMA4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): LAMA4 (NM_001105207)
    Sino Biological Human cDNA Clone for LAMA4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMA4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA4

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMA4


    (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
    LAMA4_HUMAN, Q16363: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    cytosol1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IDA14557481
    GO:0005605basal lamina TAS7959779
    GO:0005606laminin-1 complex IEA--
    GO:0005925focal adhesion ----

    LAMA4 for ontologies           About GeneDecksing


    (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 LAMA4 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Integrin 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
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35
    Laminin interactions0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMA4 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    2 GeneGo (Thomson Reuters) Pathways for LAMA4
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cell adhesion ECM remodeling

    2 BioSystems Pathways for LAMA4
        Focal Adhesion
    FOXM1 transcription factor network


    3 Reactome Pathways for LAMA4
        ECM proteoglycans
    Laminin interactions
    Non-integrin membrane-ECM interactions


    Selected Kegg Pathways  (Kegg details for LAMA4) (see all 8):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    African trypanosomiasis
    Toxoplasmosis


    LAMA4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAMA4
    Interactions:

        Search GeneGlobe Interaction Network for LAMA4

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

    Selected Interacting proteins for LAMA4 (Q163632, 3 ENSP000002305384) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61925 I2D: score=3 
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    LAMB1P079423, ENSP000002223994I2D: score=1 STRING: ENSP00000222399
    LAMB2P552683, ENSP000003071564I2D: score=1 STRING: ENSP00000307156
    LAMC3Q9Y6N63, ENSP000003543604I2D: score=1 STRING: ENSP00000354360
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0006468protein phosphorylation ----
    GO:0007155cell adhesion IEA--
    GO:0007172signal complex assembly ----
    GO:0030155regulation of cell adhesion IEA--

    LAMA4 for ontologies           About GeneDecksing



    (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 LAMA4



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LAMA4 gene (5 alternative transcripts): 
    NM_001105206.2  NM_001105207.2  NM_001105208.2  NM_001105209.2  NM_002290.4  

    Unigene Cluster for LAMA4:

    Laminin, alpha 4
    Hs.654572  [show with all ESTs]
    Unigene Representative Sequence: NM_001105206
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000230538(uc003pvv.2 uc003pvt.2 uc003pvu.2) ENST00000522006
    ENST00000389463 ENST00000424408 ENST00000604740 ENST00000521693 ENST00000519245
    ENST00000523765 ENST00000521187 ENST00000521732 ENST00000368640 ENST00000521398
    ENST00000518842 ENST00000524032 ENST00000423735 ENST00000519932 ENST00000431543(uc003pvw.2)
    ENST00000243219
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LAMA4 (see all 16):
    hsa-miR-1226 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-188-5p hsa-miR-539 hsa-miR-148b hsa-miR-197 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidLAMA4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAMA4
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): LAMA4 (NM_001105207)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMA4
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat LAMA4
      QuantiFast Probe-based Assays in human, mouse, rat LAMA4

    Additional mRNA sequence: 

    AB210027.1 AK027151.1 AK304401.1 BC004241.1 BC026237.1 BC066552.1 BT006690.1 BX648467.1 
    CR407622.1 S78569.1 U77706.1 X70904.1 X76939.1 X91171.1 

    Selected DOTS entries (see all 25):

    DT.100645740  DT.218682  DT.99975525  DT.100028306  DT.454764  DT.100794943  DT.95157565  DT.121339656 
    DT.100794945  DT.100032022  DT.97854111  DT.121339629  DT.109850  DT.87078943  DT.97810991  DT.121339625 
    DT.121339648  DT.100794942  DT.121339496  DT.75165221  DT.86837185  DT.92433798  DT.109849  DT.121339631 

    Selected AceView cDNA sequences (see all 352):

    CA427865 BQ181368 AU137321 AJ707445 AI990707 CA443687 BQ021115 BM920849 
    AI917388 CN484463 BF592845 AW665975 BU183738 BP372659 AW197577 BM728803 
    AI350769 BX955199 AA628289 AI074429 BQ001497 BQ014557 AL701564 CA437997 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMA4 (see all 19)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                    -                             -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^
    SP1:                          -                             -                 -                             -     -                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:  -                       -                                                                                                                                 

    ExUns: 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44
    SP1:                          -                             -                                                                           
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for LAMA4

    (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)
    About This Section

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    LAMA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGAGCACA
    LAMA4 Expression
    About this image


    LAMA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Heart Tube
             Cardiomyocyte-like progenitor cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
             Human umbilical vein endothelial cells (HUVEC)
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             S-shaped Body
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Gonad
             Primordial germ cell-like cells
    LAMA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654572

    UniProtKB/Swiss-Prot: LAMA4_HUMAN, Q16363
    Tissue specificity: In adult, strong expression in heart, lung, ovary small and large intestines, placenta, liver;
    weak or no expression in skeletal muscle, kidney, pancreas, testis, prostate, brain. High expression in fetal
    lung and kidney. Expression in fetal and newborn tissues is observed in certain mesenchymal cells in tissues such
    as smooth muscle and dermis

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    (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 chordates.

    Orthologs for LAMA4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lama41 , 5 laminin, alpha 41, 5 85.89(n)1
    88.81(a)1
      10 (20.02 cM)5
    167751  NM_010681.41  NP_034811.21 
     389655155 
    chicken
    (Gallus gallus)
    Aves LAMA41 laminin, alpha 4 70.27(n)
    66.17(a)
      421749  XM_004940298.1  XP_004940355.1 
    lizard
    (Anolis carolinensis)
    Reptilia LAMA46
    laminin, alpha 4
    59(a)
    1 ↔ 1
    1(188752504-188831878)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI347917.12   -- 89.15(n)    BI347917.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lama41 laminin, alpha 4 55.17(n)
    45.76(a)
      566796  NM_001039065.2  NP_001034154.1 


    ENSEMBL Gene Tree for LAMA4 (if available)
    TreeFam Gene Tree for LAMA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMA4 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMC32  LAMA32  LAMA22  USH2A2  
    LAMB42  LAMB22  LAMB12  
    6 SIMAP similar genes for LAMA4 using alignment to 12 protein entries:     LAMA4_HUMAN (see all proteins):
    LAMA4*-1    LAMA3    HSPG2    LAMA5    LAMB1    LAMB4

    LAMA4 for paralogs           About GeneDecksing



    (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 LAMA4 (see all 3276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697084
    Cardiomyopathy, dilated 1JJ (CMD1JJ)4--see VAR_0697082 P L mis40--------
    rs350159181,2
    C--110042694(+) CAGGGG/-CCATG 3 -- int11Minor allele frequency- -:0.50NA 2
    rs106371971,2
    C--110055394(+) GTTAACTTAA/
            
    TTACA
    3 -- int11Minor allele frequency- -:0.00NA 2
    rs679770521,2
    C--110089492(+) ACATA-/AAAAAA 3 -- int10--------
    rs32162211,2
    C--110089500(+) AAAAA-/ATCACA 3 -- int10--------
    rs22372391,2
    C,F--110089641(+) TGCATC/GGAACC 3 -- int15Minor allele frequency- G:0.22WA NA EA 362
    rs2009078431,2
    --110089641(+) TGCAT-/CGAACC 3 -- int10--------
    rs22372401,2
    C,F,O,A,H--110089642(+) GCATCG/AAACCT 3 -- int113Minor allele frequency- A:0.18NA NS EA WA 892
    rs789361131,2
    C--110137298(+) CCTCC-/CTATGT 3 -- int10--------
    rs1828968061,2
    C--112426326(+) TAACAC/TAGATG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for LAMA4 (112429134 - 112576141 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LAMA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667206CNV Deletion23128226
    esv26769CNV Loss19812545
    nsv886543CNV Gain21882294

    Human Gene Mutation Database (HGMD): LAMA4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMA4
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMA4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600133   
    OMIM disorders: 615235  
    UniProtKB/Swiss-Prot: LAMA4_HUMAN, Q16363
  • Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for LAMA4:    
    About MalaCards
    cardiomyopathy, dilated, 1jj    cardiomyopathy, dilated, 1w    trypanosomiasis    toxoplasmosis
    cleft lip    epididymitis    diabetic nephropathy    lung adenocarcinoma
    kidney disease    myocardial infarction    renal cell carcinoma    atherosclerosis
    endotheliitis    hypoxia    adenocarcinoma    lung cancer
    melanoma    hepatocellular carcinoma    prostatitis    prostate cancer


    LAMA4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LAMA4
    Human Genome Epidemiology (HuGE) Navigator: LAMA4 (4 documents)

    Export disorders for LAMA4 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)
    About This Section

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    PubMed articles for LAMA4 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with LAMA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. (PubMed id 7959779)1, 2, 3 Richards A.J....Pope F.M. (Genomics 1994)
    2. The complete cDNA sequence of laminin alpha 4 and its relationship to the other human laminin alpha chains. (PubMed id 8706685)1, 2, 9 Richards A.J.... Pope F.M. (Eur. J. Biochem. 1996)
    3. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PubMed id 20485444)1, 4 Wang Y....Huang W. (J. Hum. Genet. 2010)
    4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    5. Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. (PubMed id 17646580)1, 2 KnAPll R....Bakkers J. (Circulation 2007)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. The structural organisation of LAMA4, the gene encoding laminin alpha4. (PubMed id 9310354)1, 2 Richards A.J.... Pope F.M. (Eur. J. Biochem. 1997)
    8. Primary structure and expression of a novel human laminin alpha 4 chain. (PubMed id 7781776)1, 2 Iivanainen A.... Tryggvason K. (FEBS Lett. 1995)
    9. Overexpression of malignancy-associated laminins and laminin receptors by angiotropic human melanoma cells in a chick chorioallantoic membrane model. (PubMed id 19469865)1, 9 Lugassy C....Barnhill R.L. (J. Cutan. Pathol. 2009)
    10. Complex interactions between the laminin alpha 4 subunit and integrins regulate endothelial cell behavior in vitro and angiogenesis in vivo. (PubMed id 12454288)1, 9 Gonzalez A.M....Jones J.C. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3910 HGNC: 6484 AceView: LAMA4 Ensembl:ENSG00000112769 euGenes: HUgn3910
    ECgene: LAMA4 Kegg: 3910 H-InvDB: LAMA4

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for LAMA4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMA4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LAMA4 gene:
    Search GeneIP for patents involving LAMA4

    Licensable Technologies for LAMA4 gene:
     Tufts University:  Laminins and their functions in nervous systems
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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