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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LAMA5 Gene

protein-coding   GIFtS: 63
GCID: GC20M060883

Laminin, Alpha 5

  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)
About This Section

Aliases
Laminin, Alpha 51 2     Laminin Alpha-5 Chain2
Laminin-10 Subunit Alpha2 3     Laminin Subunit Alpha-52
Laminin-11 Subunit Alpha2 3     KIAA05333
Laminin-15 Subunit Alpha2 3     KIAA19073

External Ids:    HGNC: 64851   Entrez Gene: 39112   Ensembl: ENSG000001307027   OMIM: 6010335   UniProtKB: O152303   

Export aliases for LAMA5 gene to outside databases

Previous GC identifers: GC20M060647 GC20M061523 GC20M061569 GC20M060317 GC20M057659


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

Entrez Gene summary for LAMA5 Gene:
This gene encodes one of the vertebrate laminin alpha chains. 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. The protein encoded by this gene is the alpha-5 subunit of of laminin-10
(laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). (provided by RefSeq, Jun 2013)

GeneCards Summary for LAMA5 Gene: 
LAMA5 (laminin, alpha 5) is a protein-coding gene. Diseases associated with LAMA5 include pontocerebellar hypoplasia, and alport syndrome, and among its related super-pathways are ECM-receptor interaction and Focal Adhesion. GO annotations related to this gene include integrin binding and structural molecule activity. An important paralog of this gene is LAMA3.

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230
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 LAMA5 (Laminin, alpha 5) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LAMA5 gene promoter:
         Max1   GR   GR-beta   AP-2gamma   CREB   AP-2beta   GR-alpha   AP-2alpha   AP-2alphaA   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for LAMA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMA5


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

Entrez Gene cytogenetic band: 20q13.2-q13.3   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.2-q13.3

LAMA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMA5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M060883:  view genomic region     (about GC identifiers)

Start:
60,883,011 bp from pter      End:
60,942,368 bp from pter
Size:
59,358 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230 (See protein sequence)
Recommended Name: Laminin subunit alpha-5 precursor  
Size: 3695 amino acids; 399737 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-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and
laminin-15 (laminin-523)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component
Sequence caution: Sequence=CAC22310.1; Type=Erroneous gene model prediction;
Secondary accessions: Q8TDF8 Q8WZA7 Q9H1P1

Explore the universe of human proteins at neXtProt for LAMA5: NX_O15230

Explore proteomics data for LAMA5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15230

  • LAMA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LAMA5 Protein Expression
    REFSEQ proteins: NP_005551.3  
    ENSEMBL proteins: 
     ENSP00000433260   ENSP00000252999   ENSP00000420069   ENSP00000359711   ENSP00000359726  
    Reactome Protein details: O15230
    Human Recombinant Protein Products for LAMA5: 
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    Novus Biologicals LAMA5 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane IDA14557481
    GO:0005605basal lamina NAS11821406
    GO:0005606laminin-1 complex IEA--
    GO:0005615extracellular space IDA10964500

    LAMA5 for ontologies           About GeneDecksing



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

    5/11 InterPro protein domains (see all 11):
     IPR018031 Laminin_B_subgr
     IPR001368 TNFR/NGFR_Cys_rich_reg
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR013320 ConA-like_subgrp

    Graphical View of Domain Structure for InterPro Entry O15230

    ProtoNet protein and cluster: O15230

    5/6 Blocks protein domains (see all 6):
    IPB000034 Laminin B
    IPB001368 TNFR/CD27/30/40/95 cysteine-rich region
    IPB001638 Bacterial extracellular solute-binding protein
    IPB001791 Laminin G
    IPB002049 Laminin-type EGF-like domain


    UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230
    Domain: Domain G is globular and is part of the major cell-binding site located in the long arm of the laminin
    heterotrimer
    Similarity: Contains 22 laminin EGF-like domains
    Similarity: Contains 5 laminin G-like domains
    Similarity: Contains 1 laminin IV type A domain
    Similarity: Contains 1 laminin N-terminal domain


    LAMA5 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMA5_HUMAN, O15230
    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 LAMA5:
    laminin 5 (kalinin/nicein) alpha 5 polypeptide,component of basement membrane zone,expressed in
    placenta,heart,lung,skeletal muscle,kidney,pancreas

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005178integrin binding IDA11821406
    GO:0005198structural molecule activity IC11821406
    GO:0005515protein binding ----
         
    LAMA5 for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Lama5) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  homeostasis/metabolism  immune system  limbs/digits/tail 
     mortality/aging  nervous system  other  renal/urinary system  respiratory system 

    LAMA5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LAMA5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMA5 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LAMA5 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM proteoglycans0.38
    ECM-receptor interaction0.42
    2Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    3Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMA5 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    4 BioSystems Pathways for LAMA5
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Syndecan-1-mediated signaling events
    Inflammatory Response Pathway

    3        Reactome Pathways for LAMA5
        ECM proteoglycans
    Extracellular matrix organization
    Non-integrin membrane-ECM interactions


    5/7         Kegg Pathways  (Kegg details for LAMA5) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis


    LAMA5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LAMA5

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

    5/62 Interacting proteins for LAMA5 (O152302, 3 ENSP000002529994) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61923 I2D: score=3 
    SMAD2Q157962, 3MINT-60924 I2D: score=3 
    BTBD10Q9BSF83, ENSP000002781744I2D: score=3 STRING: ENSP00000278174
    LAMB1P079423, ENSP000002223994I2D: score=2 STRING: ENSP00000222399
    CRKLP461093, ENSP000003463004I2D: score=1 STRING: ENSP00000346300
    About this table

    Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis NAS11821406
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001738morphogenesis of a polarized epithelium IEA--
    GO:0001755neural crest cell migration IEA--
    GO:0001942hair follicle development IEA--

    LAMA5 for ontologies           About GeneDecksing



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

    LAMA5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LAMA5

    4 Novoseek inferred chemical compound relationships for LAMA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 26.1 1 16288042 (1)
    carbohydrates 8.92 1 9764838 (1)
    heparin 7.44 3 12147593 (2), 10799535 (1)
    vegf 0 2 12691260 (1), 15936333 (1)

    Search CenterWatch for drugs/clinical trials and news about LAMA5

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LAMA5 gene: 
    NM_005560.4  

    Unigene Cluster for LAMA5:

    Laminin, alpha 5
    Hs.473256  [show with all ESTs]
    Unigene Representative Sequence: NM_005560
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492698 ENST00000370691 ENST00000252999(uc002ycq.3 uc021wfw.1)
    ENST00000495695 ENST00000462415 ENST00000491036 ENST00000468786 ENST00000471042
    ENST00000481120 ENST00000464134 ENST00000497363 ENST00000474128 ENST00000370677
    ENST00000497053 ENST00000370692
    miRNA
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    Additional mRNA sequence: 

    AB010099.1 AB011105.1 AB067494.1 AF443072.1 AK074307.1 BC085017.1 Z95636.1 

    24/35 DOTS entries (see all 35):

    DT.452843  DT.92442493  DT.95299760  DT.95299749  DT.95299753  DT.208870  DT.100018633  DT.91681848 
    DT.120811692  DT.120811631  DT.120811700  DT.97772426  DT.75100049  DT.92047817  DT.102838035  DT.120811708 
    DT.95299751  DT.100804290  DT.100639822  DT.100877859  DT.91650621  DT.91678919  DT.92442495  DT.95290538 

    24/297 AceView cDNA sequences (see all 297):

    BC003355 AA344756 CB850893 BE563107 BX095340 AW016122 AI536942 AL844373 
    BQ650028 BU152665 AI740642 CF455778 CA489771 BG820444 AU125545 BU540893 
    AI434880 AI582832 AI935823 AI199493 BM762327 NM_005560 AA746169 AA459289 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for LAMA5 (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^
    SP1:                                            -                                                                                                               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^
    SP1:                                      -                                                                                         -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59a · 59b ^ 60a · 60b ^ 61a · 61b · 61c ^ 62a · 62b ^ 63a · 63b ^ 64a · 64b ^ 65 ^
    SP1:                                                                          -                       -                                               -         
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 66a · 66b ^ 67a · 67b ^ 68 ^ 69 ^ 70 ^ 71 ^ 72a · 72b · 72c ^ 73 ^ 74a · 74b ^ 75 ^ 76 ^ 77 ^ 78a · 78b ^ 79 ^ 80a · 80b · 80c ^ 81 ^ 82a · 82b ^
    SP1:                                                  -                             -                                         -                             -   
    SP2:              -     -                             -                             -                                   -     -                             -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -                                                                                                         


    ECgene alternative splicing isoforms for LAMA5

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

    LAMA5 expression in normal human tissues (normalized intensities)      LAMA5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCGCTCTG
    LAMA5 Expression
    About this image


    LAMA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ/urethra of male   
     
     Uncategorized (Uncategorized)
             PureStem progenitor W8

    See LAMA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAMA5

    SOURCE GeneReport for Unigene cluster: Hs.473256

    UniProtKB/Swiss-Prot: LAMA5_HUMAN, O15230
    Tissue specificity: Expressed in heart, lung, kidney, skeletal muscle, pancreas, retina and placenta. Little or no
    expression in brain and liver

        SABiosciences Custom PCR Arrays for LAMA5
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LAMA5 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lama51 , 5 laminin, alpha 51, 5 80.09(n)1
    79.83(a)1
      2 (102.70 cM)5
    167761  NM_001081171.21  NP_001074640.11 
     1801763735 
    chicken
    (Gallus gallus)
    Aves LAMA51 laminin, alpha 5 66.06(n)
    61.63(a)
      428148  XM_003642458.1  XP_003642506.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    62(a)
    46(a)
    1 ↔ many
    1 ↔ many
    4(151021980-151213383)
    4(150989811-151019232)
    zebrafish
    (Danio rerio)
    Actinopterygii lama51 laminin, alpha 5 57.56(n)
    50.65(a)
      321243  NM_001039171.1  NP_001034260.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LanA1 , 3 female meiosis chromosome segregation3
    Laminin A1
    33(a)3
    46.86(n)1
    35.17(a)1
      387231  NM_057269.21  NP_476617.11 
    worm
    (Caenorhabditis elegans)
    Secernentea epi-11 , 3 laminin3
    Protein EPI-11
    32(a)3
    42.6(n)1
    34.61(a)1
      IV(10667008-10679377)3
    1779561  NM_001028111.21  NP_001023282.11 


    ENSEMBL Gene Tree for LAMA5 (if available)
    TreeFam Gene Tree for LAMA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LAMA5 gene
    LAMA32  LAMA22  MEGF92  LAMA12  LAMA42  
    18/30 SIMAP similar genes for LAMA5 using alignment to 7 protein entries:     LAMA5_HUMAN (see all proteins) (see all similar genes):
    FAM3A    ATL2    SUN3    C12orf23    COX7A2    UTY
    FAM96A    NSD1    SENP7    WDR6    IFT122    LRTOMT
    MKRN1    ZNF738    ZNF616    DAPK2    FANCA    PSD3

    LAMA5 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2579 SNPs in LAMA5 are shown (see all 2579)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0308474
    ----see VAR_0308472 V M mis40--------
    rs1384685191,2
    C--60884427(+) TGCCCC/TGTGGA 2 R G mis11Minor allele frequency- T:0.01EU 155
    rs2021304071,2
    C--60884466(+) GGACCA/GGTTCA 2 R W mis10--------
    rs1153067201,2
    C,F--60884473(+) TTCACC/TGCCAG 2 A syn11Minor allele frequency- T:0.03WA 118
    rs771721311,2
    C--60884483(+) GCCTCC/TTCATG 2 K R mis12Minor allele frequency- T:0.04WA EU 281
    rs1413622111,2
    C--60884589(+) CACAGA/GCCCTT 1 -- int10--------
    rs1848904121,2
    C--60884601(+) CCAAAC/TGTCAG 1 -- int10--------
    rs1470090841,2
    --60884602(+) CAAACA/GTCAGT 1 -- int10--------
    rs61430201,2
    C,H--60884651(+) GGTGGG/TAGGGG 1 -- int10--------
    rs61219861,2
    C--60884716(+) GGTTAC/TGCAGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for LAMA5 (60883011 - 60942368 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/40 variations for LAMA5 (see all 40):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv714e201CNV Deletion23290073
    dgv713e201CNV Deletion23290073
    esv2722798CNV Deletion23290073
    esv2722792CNV Deletion23290073
    esv2669761CNV Deletion23128226
    esv2422398CNV Duplication17116639
    nsv3441CNV Insertion18451855
    esv1008423CNV Insertion20482838
    esv1010421CNV Insertion20482838
    dgv518n27CNV Loss19166990


    Human Gene Mutation Database (HGMD): LAMA5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601033    OMIM disorders: --

    20/31 diseases for LAMA5 (see all 31):    About MalaCards
    pontocerebellar hypoplasia    alport syndrome    congenital muscular dystrophy    syndactyly
    polycythemia vera    polycythemia    hirschsprung's disease    toxoplasmosis
    muscular dystrophy    polycystic kidney disease    gout    kidney disease
    b-cell chronic lymphocytic leukemia    basal cell carcinoma    choriocarcinoma    gingivitis
    myopathy    colorectal cancer    chronic lymphocytic leukemia    mental retardation


    LAMA5 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for LAMA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 57.6 1 9353324 (1)
    metastasis 0 1 16288042 (1)
    tumors 0 2 9624186 (1), 18635166 (1)
    carcinoma 0 4 17265066 (2), 12691260 (1)

    Genetic Association Database (GAD): LAMA5
    Human Genome Epidemiology (HuGE) Navigator: LAMA5 (4 documents)

    Export disorders for LAMA5 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

    PubMed articles for LAMA5 gene, integrated from 9 sources (see all 131):
    (articles sorted by number of sources associating them with LAMA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation. (PubMed id 9271224)1, 2, 3, 9 Durkin M.E....Wewer U.M. (1997)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Meta-analysis of three genome-wide association studie s identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.1 3 and 20q13.33. (PubMed id 20972440)1, 4 Houlston R.S....Tomlinson I.P. (2010)
    4. Recombinant human laminin-10 (alpha5beta1gamma1). Production, purification, and migration-promoting activity on vascular endothelial cells. (PubMed id 11821406)1, 2 Doi M.... Tryggvason K. (2002)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T....Ohara O. (2001)
    7. Laminin expression in adult and developing retinae: evidence of two novel CNS laminins. (PubMed id 10964957)1, 2 Libby R.T.... Brunken W.J. (2000)
    8. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
    9. Laminin alpha 5 mediates ectopic adhesion of hepatocellular carcinoma through integrins and/or Lutheran/basal cell adhesion molecule. (PubMed id 18635166)1, 9 Kikkawa Y....Mitaka T. (2008)
    10. [Correlation between ultrastructural changes of glome rular basement membrane and abnormal distribution of laminins in patients with Alport's syndrome] (PubMed id 20019771)1, 9 Huang W....Liu G. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3911 HGNC: 6485 AceView: LAMA5 Ensembl:ENSG00000130702 euGenes: HUgn3911
    ECgene: LAMA5 Kegg: 3911 H-InvDB: LAMA5

    (According to HUGE)
    About This Section
    HUGE: KIAA0533 KIAA1907

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LAMA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LAMA5 gene:
    Search GeneIP for patents involving LAMA5

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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