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

EPB41L3 Gene

protein-coding   GIFtS: 61
GCID: GC18M005382

erythrocyte membrane protein band 4.1-like 3

 Explore 27 diseases affiliated with
EPB41L3 via our new
 Human Malady Compendium 
Biological research products
for EPB41L3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Erythrocyte Membrane Protein Band 4.1-Like 31 2     Differentially Expressed In Adenocarcinoma Of The Lung Protein 12 3
DAL11 2 3 5     DAL-12 3
4.1B1 2 3     Band 4.1-Like Protein 32
KIAA09871 3     

External Ids:    HGNC: 33801   Entrez Gene: 231362   Ensembl: ENSG000000823977   OMIM: 6053315   UniProtKB: Q9Y2J23   

Export aliases for EPB41L3 gene to outside databases

Previous GC identifers: GC18P005437 GC18M005456


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

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
Function: Critical growth regulator in the pathogenesis of meningiomas

Gene Wiki entry for EPB41L3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L3 gene promoter:
         Max1   p53   IRF-1   NF-AT   S8   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L3


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.32

EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M005382:  view genomic region     (about GC identifiers)

Start:
5,392,383 bp from pter      End:
5,630,699 bp from pter
Size:
238,317 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2 (See protein sequence)
Recommended Name: Band 4.1-like protein 3  
Size: 1087 amino acids; 120678 Da
Subunit: Interacts with CADM1
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Sequence caution: Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Sequence=BAA76831.1; Type=Erroneous
initiation;
2 PDB 3D structures from and Proteopedia for EPB41L3:
2HE7 (3D)        3BIN (3D)    
Secondary accessions: O95713 Q9BRP5
Alternative splicing: 3 isoforms:  Q9Y2J2-1   Q9Y2J2-2   Q9Y2J2-3   

Explore the universe of human proteins at neXtProt for EPB41L3: NX_Q9Y2J2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2J2

  • EPB41L3 Protein expression data from MOPED and PaxDb:    About this image 
    EPB41L3 Protein Expression
    REFSEQ proteins: NP_036439.2  
    ENSEMBL proteins: 
     ENSP00000343158   ENSP00000442091   ENSP00000464570   ENSP00000462783   ENSP00000464533  
     ENSP00000462692   ENSP00000464020   ENSP00000464148   ENSP00000463122   ENSP00000461937  
     ENSP00000463289   ENSP00000462338   ENSP00000464336   ENSP00000463707   ENSP00000441174  
     ENSP00000341138   ENSP00000382981   ENSP00000392195   ENSP00000442233  

    Human Recombinant Protein Products for EPB41L3: 
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    Novus Biologicals EPB41L3 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EPB41L3

    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:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane NAS9892180
    GO:0005911cell-cell junction IDA12234973
    GO:0019898extrinsic to membrane IEA--

    EPB41L3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for EPB41L3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    EPB41L3 for domains           About GeneDecksing

    5/14 InterPro domains/families (see all 14):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9Y2J2

    ProtoNet protein and cluster: Q9Y2J2

    2 Blocks protein families:
    IPB000299 Band 4.1 domain
    IPB007477 SAB


    UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
    Similarity: Contains 1 FERM domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: E41L3_HUMAN, Q9Y2J2
    Function: Critical growth regulator in the pathogenesis of meningiomas

         Genatlas biochemistry entry for EPB41L3:
    erythrocyte surface protein 4.1-like 3,expressed in the brain

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS--
    GO:0005515protein binding IPI12234973
         
    EPB41L3 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Epb4.1l3):
     behavior/neurological  cellular  endocrine/exocrine gland  mortality/aging  nervous system 
     normal  reproductive system  tumorigenesis 

    EPB41L3 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for EPB41L3: Epb4.1l3Epb4.tm1Sohn Epb4.1l3Epb4.tm1.1Jglt Epb4.1l3Epb4.tm1Jkis Epb4.1l3Epb4.tm1.1Bhat
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EPB41L3 

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    hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Tight junction
    Tight junction1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for EPB41L3):
        Tight junction


    EPB41L3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPB41L3

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

    5/562 Interacting proteins for EPB41L3 (Q9Y2J22, 3 ENSP000003411384) via UniProtKB, MINT, STRING, and/or I2D (see all 562)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50963 I2D: score=5 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50838 I2D: score=5 STRING: ENSP00000306330
    YWHAZP631042, 3, ENSP000003095034MINT-51018 I2D: score=5 STRING: ENSP00000309503
    SPTBN1Q010822, 3, ENSP000003492594MINT-7947479 I2D: score=2 STRING: ENSP00000349259
    CNTNAP2Q9UHC63, ENSP000003547784I2D: score=4 STRING: ENSP00000354778
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002175protein localization to paranode region of axon ISS--
    GO:0007016cytoskeletal anchoring at plasma membrane TAS--
    GO:0008150biological_process ND--
    GO:0008360regulation of cell shape ISS--
    GO:0030865cortical cytoskeleton organization TAS--

    EPB41L3 for ontologies           About GeneDecksing



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

    EPB41L3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EPB41L3
    3 Novoseek chemical compound relationships for EPB41L3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 67.2 10 19115211 (1), 17260099 (1), 15837747 (1), 16205641 (1)
    progesterone 15.4 3 11589430 (1), 11079777 (1)
    thymidine 8.69 2 15116094 (1), 15688033 (1)

    Search CenterWatch for drugs/clinical trials and news about EPB41L3 / E41L3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EPB41L3 gene: 
    NM_012307.2  

    Unigene Cluster for EPB41L3:

    Erythrocyte membrane protein band 4.1-like 3
    Hs.213394  [show with all ESTs]
    Unigene Representative Sequence: AL832598
    18/38 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):
    ENST00000341928(uc010wze.1 uc010wzf.1 uc010wzg.1 uc010dkr.2 uc010wzh.1 uc002kmt.1 uc002kmu.1 uc010dkq.1)
    ENST00000578618 ENST00000542652(uc002kms.1) ENST00000540638 ENST00000545076
    ENST00000579951 ENST00000578524 ENST00000581292 ENST00000584055 ENST00000581387
    ENST00000579271 ENST00000580647 ENST00000580316 ENST00000578196 ENST00000582729
    ENST00000578395 ENST00000581661 ENST00000584670

    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L3 (see all 20):
    hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB023204.1 AF069072.1 AF515797.1 AK090875.1 AK094952.1 AK128531.1 AK292583.1 AK294610.1 
    AK294690.1 AK295453.1 AK297406.1 AK303679.1 AK307751.1 AK307904.1 AK314438.1 AL832598.2 
    BC006141.1 BC008377.1 BC144531.1 

    21 DOTS entries:

    DT.100811666  DT.100680879  DT.448097  DT.102839096  DT.91651680  DT.100811665  DT.100037099  DT.100760852 
    DT.121103773  DT.121103834  DT.95255086  DT.100746176  DT.91756598  DT.91756605  DT.97801097  DT.100675153 
    DT.102839110  DT.121103786  DT.121103787  DT.121103845  DT.86853288 

    24/188 AceView cDNA sequences (see all 188):

    NM_012307 Z43119 CA392588 AK090875 BE790193 AA946867 BQ723106 CK824976 
    BM310084 BQ005592 AA137177 AV708582 BQ718050 AI298100 BG164458 AA918413 
    AA757612 AA926990 BU170106 AA135872 AI004767 CA406389 CA397120 BQ721327 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L3 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:                          -     -     -                                                                                               -     -           -   
    SP2:                                                                                                                                      -     -           -   
    SP3:                          -     -     -                                   -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                                                                                                                                      -     -           -   
    SP5:                          -     -     -                                                                                                                     

    ExUns: 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d · 29e
    SP1:              -     -     -     -     -     -     -                                                                                                   
    SP2:                    -     -     -     -     -     -                                                                                                   
    SP3:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                       
    SP4:              -     -     -     -           -                                                                                                         
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for EPB41L3

    (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

    EPB41L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGAATGTAT
    EPB41L3 Expression
    About this image

    EPB41L3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13
    NameCategory
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See EPB41L3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L3

    SOURCE GeneReport for Unigene cluster: Hs.213394

    UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
    Tissue specificity: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis

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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 EPB41L3 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves EPB41L31 erythrocyte membrane protein band 4.1-like 3 79.16(n)
    83.66(a)
      421055  XM_419142.3  XP_419142.3 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L36
    --
    77(a)
    1 ↔ 1
    4(41795834-41866942)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060449.12   -- 77.57(n)    BC060449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epb41l3a1 erythrocyte membrane protein band 4.1-like 3a 63.37(n)
    64.97(a)
      445478  NM_001003987.1  NP_001003987.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and biogenesis
    cytoskeletal more
    60(a)
    (best of 2)
      56C4   --


    ENSEMBL Gene Tree for EPB41L3 (if available)
    TreeFam Gene Tree for EPB41L3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L3 gene
    EPB412  EPB41L52  FRMD32  EPB41L12  EPB41L4B2  FARP12  FRMD52  MYLIP2  
    FRMD72  EPB41L4A2  FARP22  EPB41L22  
    15 SIMAP similar genes for EPB41L3 using alignment to 16 protein entries:     E41L3_HUMAN (see all proteins):
    DKFZp564J1082    PTPN4    EPB41L2    EPB41L1    FRMD5    EPB41L5
    FARP2    EPB41L4B    EPB41L4A    EPB41    PTPN21    RDX
    FRMD3    MSN    PTPN14

    EPB41L3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/47 NCBI SNPs in EPB41L3 are shown (see all 47    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797474581,2
    --5405833(+) AAAAAT/AATCTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2010714711,2
    --5405834(+) AAAAA-/ATCTCTT 1 -- int10--------
    rs343865751,2
    C--5408275(+) TCTTTC/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1476903241,2
    C--5422459(+) TAACT-/TTTG  
            
    TTTAT
    1 -- int10--------
    rs596076861,2
    C--5422462(+) CTTTT-/GTTT  
            
    ATTTT
    1 -- int11Minor allele frequency- GTTT:0.00NA 2
    rs113981331,2
    C--5437962(+) CGCTCC/-TTTCC 1 -- int12Minor allele frequency- -:0.00NA CSA 6
    rs80891291,2
    C,H--5457162(+) TACAGC/ACTTTT 1 -- int14Minor allele frequency- A:0.00NS EA 410
    rs352650171,2
    C--5466782(+) GAAAC-/TTTTCC 1 -- int12Minor allele frequency- T:0.25NA 4
    rs38349781,2
    C--5467380(+) CTCTG-/CCCACT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1407654201,2
    --5469446(+) CCAGC-/ATGCCTG
    GCTGTGTGT
    ATGCC
    1 -- int10--------

    HapMap Linkage Disequilibrium report for EPB41L3 (5392383 - 5630699 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for EPB41L3
         4 Indels: 34409 41510 29519 29518

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    EPB41L3 for disorders           About GeneDecksing

    OMIM gene information: 605331    OMIM disorders: --

    20/27 diseases for EPB41L3 (see all 27):    About MalaCards
    adenocarcinoma    cancer progression/metastasis    hereditary elliptocytosis    elliptocytosis
    meninges hemangiopericytoma    benign meningioma    renal clear cell carcinoma    hemangiopericytoma
    meningioma    anaplastic meningioma    prostate cancer, progression of    epithelial ovarian cancer
    neurofibromatosis    prostate cancer, progression and metastasis of    meningitis    ependymoma
    prostate cancer    ovarian cancer    breast cancer    lung adenocarcinoma

    10/13 Novoseek disease relationships for EPB41L3 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 76.2 4 15674477 (1), 15542977 (1), 15535129 (1), 19429976 (1)
    meningioma 75.7 39 19429976 (5), 10888600 (4), 15116094 (3), 15688033 (3) (see all 13)
    benign meningioma 67.1 1 16707455 (1)
    carcinoma non-small cell lung 55.3 4 9892180 (2), 15334060 (1), 10888600 (1)
    adenocarcinoma 53.5 17 15837747 (2), 15116094 (1), 17415786 (1), 18554153 (1) (see all 13)
    tumors 43.8 48 19429976 (5), 11300722 (4), 15837747 (3), 18554153 (2) (see all 22)
    lung tumor 42.6 3 12234973 (2), 15837747 (1)
    neoplastic transformation 38.8 1 15517334 (1)
    brain tumors 38.6 4 16420693 (1), 10888600 (1)
    nsclc 35.4 16 16205641 (5), 15837747 (3), 19624891 (3)

    Human Genome Epidemiology (HuGE) Navigator: EPB41L3 (1 document)

    Export disorders for EPB41L3 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 EPB41L3 gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with EPB41L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PubMed id 9892180)1, 2, 3, 9 Tran Y.K....Newsham I.F. (1999)
    2. Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer. (PubMed id 12234973)1, 2, 9 Yageta M.... Murakami Y. (2002)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    6. Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PubMed id 9828140)1, 3 Peters L.L....Conboy J.G. (1998)
    7. Downregulation of TSLC1 and DAL-1 expression occurs frequently in breast cancer. (PubMed id 17260099)1, 9 Heller G....Zochbauer-Muller S. (2007)
    8. Promoter methylation of DAL-1/4.1B predicts poor prognosis in non-small cell lung cancer. (PubMed id 15837747)1, 9 Kikuchi S....Murakami Y. (2005)
    9. Immunolocalization of protein 4.1B/DAL-1 during neoplastic transformation of mouse and human intestinal epithelium. (PubMed id 15517334)1, 9 Ohno N....Ohno S. (2004)
    10. Disruption of 14-3-3 binding does not impair Protein 4.1B growth suppression. (PubMed id 15116094)1, 9 Robb V.A....Gutmann D.H. (2004)

    (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: 23136 HGNC: 3380 AceView: EPB41L3 Ensembl:ENSG00000082397 euGenes: HUgn23136
    ECgene: EPB41L3 Kegg: 23136 H-InvDB: EPB41L3

    (According to HUGE)
    About This Section
    HUGE: KIAA0987

    (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 EPB41L3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPB41L3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPB41L3 gene:
    Search GeneIP for patents involving EPB41L3

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



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