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LIN7A Gene

protein-coding   GIFtS: 59
GCID: GC12M081166

Lin-7 Homolog A (C. Elegans)

  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
Lin-7 Homolog A (C. Elegans)1 2     LIN-7A2
Mammalian LIN-7 11 2     LIN72
Mammalian Lin-Seven Protein 12 3     Protein Lin-7 Homolog A2
Tax Interaction Protein 332 3     veli-12
Vertebrate Lin-7 Homolog 12 3     Vertebrate LIN7 Homolog 12
MALS-12 3     Lin-7A3
TIP-332 3     MALS13
VELI12 3     Veli-13
hLin-72 3     

External Ids:    HGNC: 177871   Entrez Gene: 88252   Ensembl: ENSG000001110527   OMIM: 6033805   UniProtKB: O149103   

Export aliases for LIN7A gene to outside databases

Previous GC identifers: GC12M081555 GC12M079693 GC12M078248


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for LIN7A Gene:
LIN7A (lin-7 homolog A (C. elegans)) is a protein-coding gene. Diseases associated with LIN7A include pulmonary aspergilloma, and dental caries. GO annotations related to this gene include PDZ domain binding and L27 domain binding. An important paralog of this gene is PDZD11.

UniProtKB/Swiss-Prot: LIN7A_HUMAN, O14910
Function: Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at
the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate
delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7
(LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell
adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal
postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by
beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2,
ERBB3 and ERBB4 to the basolateral membrane of epithelial cells

Gene Wiki entry for LIN7A 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LIN7A gene promoter:
         NCX/Ncx   IRF-1   NF-E2 p45   NF-AT   PPAR-alpha   IRF-2   NF-AT2   NF-AT3   NF-E2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLIN7A promoter sequence
   Search Chromatin IP Primers for LIN7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LIN7A


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

Entrez Gene cytogenetic band: 12q21   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q21

LIN7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LIN7A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M081166:  view genomic region     (about GC identifiers)

Start:
81,186,299 bp from pter      End:
81,331,704 bp from pter
Size:
145,406 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: LIN7A_HUMAN, O14910 (See protein sequence)
Recommended Name: Protein lin-7 homolog A  
Size: 233 amino acids; 25997 Da
Subunit: Forms two exclusive ternary complexes with CASK and APBA1 or CASKIN1 (By similarity). Can also interact
with other modular proteins containing protein-protein interaction domains like MPP5, MPP6, MPP7, DLG1, DLG2 and
DLG3 through its L27 domain. Interacts with DLG4, GRIN2B and MARCH11 as well as CDH1 and CTNNB1, the channels
KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of
LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin
cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17
via APBA1. Interacts with HTR4 (By similarity). Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A
or LIN7C)
Secondary accessions: A4FTY3 Q147W1 Q6LES3 Q7LDS4

Explore the universe of human proteins at neXtProt for LIN7A: NX_O14910

Explore proteomics data for LIN7A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LIN7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004655.1  
    ENSEMBL proteins: 
     ENSP00000447488   ENSP00000261203   ENSP00000448975   ENSP00000448891  

    LIN7A Human Recombinant Protein Products:

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    Novus Biologicals LIN7A Proteins
    Novus Biologicals LIN7A Lysates
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    ProSpec Recombinant Protein for LIN7A
    Cloud-Clone Corp. Proteins for LIN7A

    LIN7A Antibody Products:

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    Abcam antibodies for LIN7A (O14910, Q9NUP9, Q9HAP6)
    Cloud-Clone Corp. Antibodies for LIN7A
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    LSBio Antibodies in human, mouse, rat for LIN7A

    LIN7A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for LIN7A
    Cloud-Clone Corp. CLIAs for LIN7A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001478 PDZ
     IPR014775 L27_C
     IPR017365 Lin-7_homologue
     IPR004172 L27

    Graphical View of Domain Structure for InterPro Entry O14910

    ProtoNet protein and cluster: O14910

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: LIN7A_HUMAN, O14910
    Domain: The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane
    Domain: The PDZ domain regulates endocytosis and recycling of the receptor at the membrane
    Domain: The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and
    the association of LIN7 to membranes (By similarity)
    Similarity: Belongs to the lin-7 family
    Similarity: Contains 1 L27 domain
    Similarity: Contains 1 PDZ (DHR) domain


    LIN7A 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: LIN7A_HUMAN, O14910
    Function: Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at
    the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate
    delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7
    (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell
    adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal
    postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by
    beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2,
    ERBB3 and ERBB4 to the basolateral membrane of epithelial cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11311936
    GO:0030165PDZ domain binding IEA--
    GO:0097016L27 domain binding IPI17237226
         
    LIN7A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LIN7A:
     Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lin7a):
     mortality/aging  nervous system  normal  respiratory system 

    LIN7A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lin7atm1Dsb for LIN7A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LIN7A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LIN7A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LIN7A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LIN7A

    miRNA
    Products:
        
    miRTarBase miRNAs that target LIN7A:
    hsa-mir-335-5p (MIRT017177), hsa-mir-124-3p (MIRT022330)

    Block miRNA regulation of human, mouse, rat LIN7A using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate LIN7A:
    hsa-miR-455-5p hsa-miR-607 hsa-miR-186 hsa-miR-3919 hsa-miR-1291 hsa-miR-3133 hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidLIN7A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LIN7A
    Predesigned siRNA for gene silencing in human, mouse, rat LIN7A

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LIN7A (NM_004664)
    Sino Biological Human cDNA Clone for LIN7A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LIN7A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIN7A

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIN7A


    (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
    LIN7A_HUMAN, O14910: Cell membrane; Peripheral membrane protein. Basolateral cell membrane; Peripheral membrane
    protein. Cell junction (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density;
    Peripheral membrane protein (By similarity). Cell junction, tight junction (By similarity). Cell junction,
    synapse, synaptosome (By similarity). Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By
    similarity). Mainly basolateral in renal epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    nucleus2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005923tight junction IEA--
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----
    GO:0016323basolateral plasma membrane IEA--
    GO:0043005neuron projection IEA--

    LIN7A 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LIN7A
    Interactions:

        GeneGlobe Interaction Network for LIN7A

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

    Selected Interacting proteins for LIN7A (O149101, 2, 3 ENSP000002612034) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149361, 2, 3, ENSP000003674084EBI-2513988,EBI-1215506 MINT-2730201 MINT-2730090 I2D: score=4 STRING: ENSP00000367408
    DLG1Q129593, ENSP000003457314I2D: score=2 STRING: ENSP00000345731
    MPP6Q9NZW53, ENSP000002226444I2D: score=2 STRING: ENSP00000222644
    DLG3Q927963, ENSP000003634804I2D: score=1 STRING: ENSP00000363480
    KCNJ4P480503, ENSP000003064974I2D: score=1 STRING: ENSP00000306497
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9482110
    GO:0006887exocytosis IEA--
    GO:0007269neurotransmitter secretion IEA--
    GO:0015031protein transport IEA--
    GO:0048489synaptic vesicle transport IEA--

    LIN7A 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 LIN7A

    1 HMDB Compound for LIN7A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 LIN7A gene: 
    NM_004664.2  

    Unigene Cluster for LIN7A:

    Lin-7 homolog A (C. elegans)
    Hs.144333  [show with all ESTs]
    Unigene Representative Sequence: AK127428
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552864(uc001szj.1 uc001szk.1) ENST00000261203 ENST00000549417
    ENST00000552093
    miRNA
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    Block miRNA regulation of human, mouse, rat LIN7A using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate LIN7A:
    hsa-miR-455-5p hsa-miR-607 hsa-miR-186 hsa-miR-3919 hsa-miR-1291 hsa-miR-3133 hsa-miR-758
    SwitchGear 3'UTR luciferase reporter plasmidLIN7A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LIN7A
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    Primer
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    OriGene qPCR primer pairs and template standards for LIN7A
    OriGene qSTAR qPCR primer pairs in human, mouse for LIN7A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LIN7A
      QuantiTect SYBR Green Assays in human, mouse, rat LIN7A
      QuantiFast Probe-based Assays in human, mouse, rat LIN7A

    Additional mRNA sequence: 

    AF028826.1 AF087693.1 AF173081.1 AK127428.1 AK309256.1 AK315321.1 BC046926.1 BC062332.1 
    BC099921.1 BC118609.1 BC122561.1 CR407680.1 

    4 DOTS entries:

    DT.453476  DT.97836294  DT.431736  DT.86846323 

    Selected AceView cDNA sequences (see all 49):

    BX094818 AA442886 AA757170 AI140001 AF173081 R00650 AF087693 BF062244 
    BC046926 BC062332 AA999883 BE046995 BM726221 W88868 AA406050 BQ279020 
    NM_004664 AF028826 AA424241 AK127428 CR407680 AA897515 BM680838 BX110588 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LIN7A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8
    SP1:                                            -                     
    SP2:                          -                 -                     
    SP3:                          -                                       
    SP4:                                            -     -     -         


    ECgene alternative splicing isoforms for LIN7A

    (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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    LIN7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTATAAAT
    LIN7A Expression
    About this image


    LIN7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     NULL (Uncategorized)
             Neural rosettes
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    LIN7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LIN7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144333

    UniProtKB/Swiss-Prot: LIN7A_HUMAN, O14910
    Tissue specificity: Expressed in brain, testis, kidney, placenta and liver

        Custom PCR Arrays for LIN7A
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    QuantiFast Probe-based Assays in human, mouse, rat LIN7A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIN7A

    (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 LIN7A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lin7a1 , 5 lin-7 homolog A (C. elegans)1, 5 92.42(n)1
    99.57(a)1
      10 (55.83 cM)5
    1080301  NM_001039354.11  NP_001034443.11 
     1072718435 
    chicken
    (Gallus gallus)
    Aves LIN7A1 lin-7 homolog A (C. elegans) 85.31(n)
    98.51(a)
      417874  XM_416117.4  XP_416117.4 
    lizard
    (Anolis carolinensis)
    Reptilia LIN7A6
    lin-7 homolog A (C. elegans)
    96(a)
    1 ↔ 1
    5(36938987-36981762)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc730902 hypothetical protein MGC73090 79.58(n)   393682  BC059460.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta veli6
    veli
    61(a)
    1 → many
    3R(20890140-20891317)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-76
    Protein LIN-7, isoform b (lin-7) mRNA, complete cd...
    64(a)
    1 → many
    II(14347125-14348794) WBGene00002996


    ENSEMBL Gene Tree for LIN7A (if available)
    TreeFam Gene Tree for LIN7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LIN7A gene
    PDZD112  LIN7B2  LIN7C2  
    7 SIMAP similar genes for LIN7A using alignment to 4 protein entries:     LIN7A_HUMAN (see all proteins):
    LIN7C    LIN7B    DLG3    DLG4    DLG2    MPDZ
    GOPC

    LIN7A 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 LIN7A (see all 2484)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1433113961,2
    Cuntested181289726(+) AAAAAA/C/TATATG 1 -- int10--------
    rs57994981,2
    C--81153957(+) GTCTC-/AAAAAA
            
    AAAAA
    1 -- int12Minor allele frequency- AAAAAA:0.00NA CSA 4
    rs1490964961,2
    --81190803(+) ATACAA/CGCAAT 1 -- int10--------
    rs1140055241,2
    F--81190925(+) AAAGCC/TGATTG 1 -- int11Minor allele frequency- T:0.01WA 118
    rs37414541,2
    C,F,H--81190928(-) AAGCAA/TTCGGC 1 -- int111Minor allele frequency- T:0.13EA NA NS WA 1628
    rs1431364651,2
    --81190998(+) AGGTTG/TAACTT 1 -- int10--------
    rs170073761,2
    C,F,H--81191123(+) TAATGA/GGGGGT 1 -- int114Minor allele frequency- G:0.10NA NS EA WA CSA 1454
    rs1511840851,2
    --81191150(+) AAGCTA/GTGGAC 1 -- int10--------
    rs1402213711,2
    --81191462(+) CAAATC/TTGTGA 1 -- ut310--------
    rs1828323841,2
    --81191473(+) CTATCA/GGATGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for LIN7A (81186299 - 81331704 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LIN7A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273340CNV Insertion20981092
    esv269763CNV Insertion20981092
    nsv789CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LIN7A
    DNA2.0 Custom Variant and Variant Library Synthesis for LIN7A

    (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: 603380    OMIM disorders: --

    5 diseases for LIN7A:    
    About MalaCards
    pulmonary aspergilloma    dental caries    leber congenital amaurosis    attention deficit hyperactivity disorder
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for LIN7A:
    Pulmonary aspergilloma

    LIN7A for disorders           About GeneDecksing

    Genetic Association Database (GAD): LIN7A
    Human Genome Epidemiology (HuGE) Navigator: LIN7A (1 document)

    Export disorders for LIN7A 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 LIN7A gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with LIN7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions. (PubMed id 17237226)1, 2, 3 Bohl J.... Vande Pol S.B. (J. Biol. Chem. 2007)
    2. Characterization of MALS/Velis-1, -2, and -3: a family of mammalian LIN-7 homologs enriched at brain synapses in association with the postsynaptic density-95/NMDA receptor postsynaptic complex. (PubMed id 10341223)1, 2, 3 Jo K.... Bredt D.S. (J. Neurosci. 1999)
    3. 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)
    4. VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain. (PubMed id 11311936)1, 2 Tseng T.-C.... Chishti A.H. (Biochim. Biophys. Acta 2001)
    5. A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. (PubMed id 9753324)1, 2 Butz S.... Suedhof T.C. (Cell 1998)
    6. The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins. (PubMed id 9482110)1, 2 Rousset R.... Jalinot P. (Oncogene 1998)
    7. Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder. (PubMed id 18286632)1, 9 Lanktree M....Muglia P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    8. Polar expression of ErbB-2/HER2 in epithelia. Bimodal regulation by Lin-7. (PubMed id 12967566)2, 9 Shelly M.... Yarden Y. (Dev. Cell 2003)
    9. Coordinated folding and association of the LIN-2, -7 (L27) domain. An obligate heterodimerization involved in assembly of signaling and cell polarity complexes. (PubMed id 12110687)1, 9 Harris B.Z....Lim W.A. (J. Biol. Chem. 2002)
    10. Identification of an evolutionarily conserved heterotrimeric protein complex involved in protein targeting. (PubMed id 9822620)1, 9 Borg J.P....Margolis B. (J. Biol. Chem. 1998)

    (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: 8825 HGNC: 17787 AceView: LIN7A Ensembl:ENSG00000111052 euGenes: HUgn8825
    ECgene: LIN7A H-InvDB: LIN7A

    (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 LIN7A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for LIN7A gene:
    Search GeneIP for patents involving LIN7A

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



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