Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

EPB41L5 Gene

protein-coding   GIFtS: 48
GCID: GC02P120865

erythrocyte membrane protein band 4.1 like 5

 Explore 2 diseases affiliated with
EPB41L5 via our new
 Human Malady Compendium 
Biological research products
for EPB41L5
    

(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 51 2
KIAA15481 3 5
BE371 2
YMO11 2
FLJ129571
Band 4.1-Like Protein 52

External Ids:    HGNC: 198191   Entrez Gene: 576692   Ensembl: ENSG000001151097   OMIM: 6117305   UniProtKB: Q9HCM43   

Export aliases for EPB41L5 gene to outside databases

Previous GC identifers: GC02P118691 GC02P120677 GC02P120486 GC02P113095


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

UniProtKB/Swiss-Prot: E41L5_HUMAN, Q9HCM4
Function: May contribute to the correct positioning of tight junctions during the establishment of polarity in
epithelial cells




(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_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L5 gene promoter:
         MyoD   AP-2gamma   C/EBPalpha   E47   POU2F1   POU2F1a   Hand1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L5 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L5


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

Entrez Gene cytogenetic band: 2q14.2   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14.2

EPB41L5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P120865:  view genomic region     (about GC identifiers)

Start:
120,770,581 bp from pter      End:
120,936,697 bp from pter
Size:
166,117 bases      Orientation:
plus 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: E41L5_HUMAN, Q9HCM4 (See protein sequence)
Recommended Name: Band 4.1-like protein 5  
Size: 733 amino acids; 81856 Da
Subunit: Interacts with MPP5, CRB2 and CRB3
Subcellular location: Cytoplasm. Cell junction, adherens junction. Note=Associated with the plasma membrane.
Colocalizes with CTNNB1, an adherens junction marker (By similarity)
Secondary accessions: Q7Z5S1 Q8IZ12 Q9H975
Alternative splicing: 4 isoforms:  Q9HCM4-1   Q9HCM4-2   Q9HCM4-3   Q9HCM4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EPB41L5: NX_Q9HCM4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCM4

  • EPB41L5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001171866.1  NP_001171867.1  NP_001171868.1  NP_065960.2  

    ENSEMBL proteins: 
     ENSP00000263713   ENSP00000393856   ENSP00000329687   ENSP00000393722   ENSP00000390439  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): EPB41L5
    OriGene Custom Protein Services for EPB41L5 
    GenScript Custom Purified and Recombinant Proteins Services for EPB41L5
    Novus Biologicals EPB41L5 Protein
    Novus Biologicals EPB41L5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EPB41L5

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane ----
    GO:0005925focal adhesion IEA--
    GO:0019898extrinsic to membrane IEA--


    EPB41L5 for ontologies           About GeneDecksing



    EPB41L5 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EPB41L5 
    GenScript Custom Superior Antibodies Services for EPB41L5
    Novus Biologicals EPB41L5 Antibody
    Search for Antibodies for EPB41L5 at Abcam  
    Uscn Antibodies for EPB41L5
    Search ThermoFisher Antibodies for EPB41L5

    Assay Products for EPB41L5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPB41L5
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EPB41L5


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

    EPB41L5 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     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 Q9HCM4

    ProtoNet protein and cluster: Q9HCM4

    1 Blocks protein family: IPB000299 Band 4.1 domain

    UniProtKB/Swiss-Prot: E41L5_HUMAN, Q9HCM4
    Domain: The FERM domain binds to CRB1
    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: E41L5_HUMAN, Q9HCM4
    Function: May contribute to the correct positioning of tight junctions during the establishment of polarity in
    epithelial cells

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: EPB41L5
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41L5
    8/65 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L5 (see all 65):
    hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-134 hsa-miR-30d hsa-miR-30a hsa-miR-629* hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPB41L5 (see all 7)
    OriGene shRNA RFP: EPB41L5
    OriGene siRNA: EPB41L5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPB41L5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5 (see all 9)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): EPB41L5 (NM_020909)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41L5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPB41L5
    Search LifeMap BioReagents cell lines for EPB41L5

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L5

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008092cytoskeletal protein binding IEA--
    GO:0019904protein domain specific binding IEA--


    EPB41L5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Epb4.1l5Epb4.tm1Sia for EPB41L5
         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Epb4.1l5):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     growth/size  homeostasis/metabolism  mortality/aging  nervous system  skeleton 
     vision/eye 

    EPB41L5 for phenotypes           About GeneDecksing


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EPB41L5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for EPB41L5 (Q9HCM43 ENSP000002637134) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG12O948173, ENSP000002744594I2D: score=1 STRING: ENSP00000274459
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    SMAD2Q157963, ENSP000002621604I2D: score=1 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=1 STRING: ENSP00000332973
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation ----
    GO:0001701in utero embryonic development IEA--
    GO:0001756somitogenesis ----
    GO:0001837epithelial to mesenchymal transition IEA--
    GO:0001839neural plate morphogenesis IEA--


    EPB41L5 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPB41L5
    Search CenterWatch for drugs/clinical trials and news about EPB41L5 / E41L5 

    (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, 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 EPB41L5 gene (4 alternative transcripts): 
    NM_001184937.1  NM_001184938.1  NM_001184939.1  NM_020909.3  

    Unigene Cluster for EPB41L5:

    Erythrocyte membrane protein band 4.1 like 5
    Hs.369232  [show with all ESTs]
    Unigene Representative Sequence: NM_020909
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263713(uc002tmg.3 uc010fll.3 uc010flm.3) ENST00000443902
    ENST00000331393 ENST00000443124(uc010flk.3 uc002tmh.4) ENST00000452780
    ENST00000466241 ENST00000489017 ENST00000461128 ENST00000495030 ENST00000488691


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: EPB41L5
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41L5
    8/65 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L5 (see all 65):
    hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-134 hsa-miR-30d hsa-miR-30a hsa-miR-629* hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPB41L5 (see all 7)
    OriGene shRNA RFP: EPB41L5
    OriGene siRNA: EPB41L5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L5
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5 (see all 9)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): EPB41L5 (NM_020909)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41L5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L5 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EPB41L5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41L5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L5

    Additional cDNA sequence: 

    AB046768.1 AK023019.1 AK290895.1 AK304831.1 AK307458.1 BC032822.2 BC054508.1 

    9 DOTS entries:

    DT.416538  DT.103618  DT.97841384  DT.452589  DT.95370527  DT.97766654  DT.306361  DT.75172938 
    DT.95069306 

    24/159 AceView cDNA sequences (see all 159):

    CA307638 BQ716632 C18353 T16665 AW169833 AL704468 Z41607 BG055013 
    BQ024857 F04290 BQ016371 BM557674 F02920 AB046768 R26366 AW512729 
    AW273248 AA496844 AI243365 N67889 BM460232 CB129152 Z42060 Z44359 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L5    About this scheme

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

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26
    SP1:                              
    SP2:                    -         
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for EPB41L5

    (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

    EPB41L5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTGCTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See EPB41L5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L5

    SOURCE GeneReport for Unigene cluster: Hs.369232
        SABiosciences Custom PCR Arrays for EPB41L5
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EPB41L5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41L5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L5
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L5

    (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 EPB41L5 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves EPB41L51 erythrocyte membrane protein band 4.1 like 5 70.55(n)
    74.96(a)
      424235  XM_422083.3  XP_422083.3 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L56
    --
    71(a)
    1 ↔ 1
    1(85200150-85262860)
    African clawed frog
    (Xenopus laevis)
    Amphibia epb4.1l5-prov2 erythrocyte protein band 4.1-like 5 76.96(n)    BC055968.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epb41l52 erythrocyte membrane protein band 4.1 like 5 74.42(n)   368449  AY423009.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta yrt6
    yurt
    28(a)
    1 → many
    3R(9254589-9260704)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-26
    FERM domain (protein4.1-ezrin-radixin-moesin) fami...
    38(a)
    1 → many
    III(5976651-5982077)


    ENSEMBL Gene Tree for EPB41L5 (if available)
    TreeFam Gene Tree for EPB41L5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L5 gene
    EPB412  FRMD32  EPB41L12  EPB41L4B2  FARP12  FRMD52  MYLIP2  EPB41L32  
    FRMD72  EPB41L4A2  FARP22  EPB41L22  
    13 SIMAP similar genes for EPB41L5 using alignment to 4 protein entries:     E41L5_HUMAN (see all proteins):
    EPB41L4B    PTPN4    EPB41L3    EPB41L2    EPB41L4A    FRMD5
    EPB41    EPB41L1    FARP1    FRMD3    PTPN3    RDX
    FARP2

    EPB41L5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EPB41L5
    PGOHUM00000249653


    (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

    10/2549 NCBI SNPs in EPB41L5 are shown (see all 2549    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891478261,2
    --120768604(+) CAACAA/TTTCCT 3 -- us2k10--------
    rs1815783051,2
    --120768766(+) TGTTTA/TTAAAA 3 -- us2k10--------
    rs1857345281,2
    --120768775(+) AAGGTA/GGAGAA 3 -- us2k10--------
    rs2016477391,2
    --120768812(+) TAAAG-/AAAAAA 4 -- us2k10--------
    rs2005609161,2
    C--120768822(-) TACCTC/TTTTTT 4 -- us2k10--------
    rs1904058951,2
    --120768920(+) TGGGCA/GTAGCC 4 -- us2k10--------
    rs1834011231,2
    --120769294(+) AAGGCA/CCTACA 4 -- us2k10--------
    rs1161569441,2
    F,--120769418(+) TTGCTG/ATTCCC 4 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1863139641,2
    --120769426(+) CCCTTA/CGGTTC 4 -- us2k10--------
    rs1912132761,2
    --120769545(+) TGCAGA/TGGCGT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for EPB41L5 (120770581 - 120936697 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EPB41L5
         1 CNV: 4304

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPB41L5
    DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L5

    (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.)
    About This Section

    EPB41L5 for disorders           About GeneDecksing

    OMIM gene information: 611730    OMIM disorders: --

    2 diseases for EPB41L5:    About MalaCards
    peutz-jeghers syndrome    intussusception

    1 disease from the University of Copenhagen DISEASES database for EPB41L5:
    Intussusception

    Export disorders for EPB41L5 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 EPB41L5 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with EPB41L5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. (PubMed id 17920587)1, 2 Gosens I.... Roepman R. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    4. Genetic variants associated with breast size also infl uence breast cancer risk. (PubMed id 22747683)1 Eriksson N....Tung J.Y. (2012)
    5. Identification of proteins associated with ligand-acti vated estrogen receptor a in human breast cancer cell nuclei by tandem affinity purification and nano LC-MS/MS. (PubMed id 21182205)1 Tarallo R....Weisz A. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57669 HGNC: 19819 AceView: EPB41L5 Ensembl:ENSG00000115109 euGenes: HUgn57669
    ECgene: EPB41L5 H-InvDB: EPB41L5

    (According to HUGE)
    About This Section
    HUGE: KIAA1548

    (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 EPB41L5 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 EPB41L5 gene:
    Search GeneIP for patents involving EPB41L5

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for EPB41L5  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPB41L5   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EPB41L5  
     OriGene Protein Over-expression Lysate for EPB41L5   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for EPB41L5   OriGene 3'-UTR Clone for EPB41L5  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPB41L5  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EPB41L5   OriGene Custom Protein Services for EPB41L5  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EPB41L5
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPB41L5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L5
     GenScript Custom Purified and Recombinant Proteins Services for EPB41L5 GenScript cDNA clones with any tag delivered in your preferred vector for EPB41L5
     GenScript Custom Assay Services for EPB41L5 GenScript Custom Superior Antibodies Services for EPB41L5
     GenScript Custom overexpressing Cell Line Services for EPB41L5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in EPB41L5 promoter
     Search Chromatin IP Primers for EPB41L5
     RT2 qPCR Primer Assay in human, mouse, rat EPB41L5
     Search GNC Networks for EPB41L5
     SABiosciences Custom PCR Arrays for EPB41L5
     Search Tocris compounds for EPB41L5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     EPB41L5 antibodies
     EPB41L5 proteins
     EPB41L5 lysates
     Search for Antibodies for EPB41L5 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for EPB41L5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     EPB41L5 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for EPB41L5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L5
     Browse SwitchGear 3'UTR luciferase reporter plasmids for EPB41L5
     SwitchGear Promoter luciferase reporter plasmids for EPB41L5
     Search ThermoFisher Antibodies for EPB41L5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L5
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EPB41L5 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4