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

EPB41L4B Gene

protein-coding   GIFtS: 48
GCID: GC09M111934

Erythrocyte Membrane Protein Band 4.1 Like 4B

  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
Erythrocyte Membrane Protein Band 4.1 Like 4B1 2
EHM22 3 5
FERM-Containing Protein CG12 3
CG12
Band 4.1-Like Protein 4B2
Protein EHM23

External Ids:    HGNC: 198181   Entrez Gene: 545662   Ensembl: ENSG000000952037   OMIM: 6103405   UniProtKB: Q9H3293   

Export aliases for EPB41L4B gene to outside databases

Previous GC identifers: GC09M103666 GC09M105391 GC09M107314 GC09M107286 GC09M109013 GC09M110974 GC09M081534


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

GeneCards Summary for EPB41L4B Gene: 
EPB41L4B (erythrocyte membrane protein band 4.1 like 4B) is a protein-coding gene. Diseases associated with EPB41L4B include dysautonomia, and fibrosarcoma. GO annotations related to this gene include cytoskeletal protein binding and structural constituent of cytoskeleton. An important paralog of this gene is EPB41L5.


(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_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L4B gene promoter:
         AhR   FOXF2   Olf-1   POU6F1 (c2)   Arnt   POU2F1   FOXO4   POU2F1a   LyF-1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L4B promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L4B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L4B


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

Entrez Gene cytogenetic band: 9q31-q32   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q22.1-q22.3

EPB41L4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L4B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M111934:  view genomic region     (about GC identifiers)

Start:
111,934,254 bp from pter      End:
112,083,244 bp from pter
Size:
148,991 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: E41LB_HUMAN, Q9H329 (See protein sequence)
Recommended Name: Band 4.1-like protein 4B  
Size: 900 amino acids; 99712 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Sequence caution: Sequence=AAG43366.1; Type=Frameshift; Positions=19, 35, 870; Sequence=AAG43368.1;
Type=Frameshift; Positions=19, 35;
Secondary accessions: Q5T4G5 Q5T4G6 Q9H328 Q9P2V3
Alternative splicing: 2 isoforms:  Q9H329-1   Q9H329-2   

Explore the universe of human proteins at neXtProt for EPB41L4B: NX_Q9H329

Explore proteomics data for EPB41L4B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H329

  • EPB41L4B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB41L4B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_060894.2  NP_061987.3  

    ENSEMBL proteins: 
     ENSP00000363694   ENSP00000363685  

    Human Recombinant Protein Products for EPB41L4B: 
    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 for EPB41L4B
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for EPB41L4B
    GenScript Custom Purified and Recombinant Proteins Services for EPB41L4B
    Novus Biologicals EPB41L4B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPB41L4B 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0019898extrinsic to membrane IEA--
    GO:0045177apical part of cell IDA--

    EPB41L4B for ontologies           About GeneDecksing



    EPB41L4B 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 EPB41L4B
    GenScript Custom Superior Antibodies Services for EPB41L4B
    Novus Biologicals EPB41L4B Antibody
    Abcam antibodies for EPB41L4B
    Cloud-Clone Corp. Antibodies for EPB41L4B 
    Search ThermoFisher Antibodies for EPB41L4B
    LSBio Antibodies in human, mouse, rat for EPB41L4B 

    Assay Products for EPB41L4B: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPB41L4B
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPB41L4B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPB41L4B 
    Cloud-Clone Corp. CLIAs for EPB41L4B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9H329

    ProtoNet protein and cluster: Q9H329

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB000515 Binding-protein-dependent transport systems inner membrane component


    UniProtKB/Swiss-Prot: E41LB_HUMAN, Q9H329
    Similarity: Contains 1 FERM domain


    EPB41L4B 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS10783258
    GO:0005515protein binding ----
    GO:0008092cytoskeletal protein binding IEA--
         
    EPB41L4B for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for EPB41L4B:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41L4B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPB41L4B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPB41L4B 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPB41L4B 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41L4B
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L4B (see all 70):
    hsa-miR-3607-3p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-3613-3p hsa-miR-4324 hsa-miR-1 hsa-miR-335
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L4B 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPB41L4B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L4B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPB41L4B
    Sirion Biotech Customized adenovirus for overexpression of EPB41L4B

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EPB41L4B (see all 9)
    OriGene ORF clones in mouse, rat for EPB41L4B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EPB41L4B (NM_018424)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41L4B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L4B
    Sirion Biotech Customized lentivirus for stable overexpression of EPB41L4B 
                         Customized lentivirus expression plasmids for stable overexpression of EPB41L4B 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPB41L4B
    Search LifeMap BioReagents cell lines for EPB41L4B
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L4B


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EPB41L4B

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for EPB41L4B (ENSP000003636944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIN1ENSP000002479704STRING: ENSP00000247970
    TP53ENSP000002693054STRING: ENSP00000269305
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    LAMC3ENSP000003543604STRING: ENSP00000354360
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031032actomyosin structure organization IDA--

    EPB41L4B 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPB41L4B (E41LB)

    Search CenterWatch for drugs/clinical trials and news about EPB41L4B / E41LB

    (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 EPB41L4B gene (2 alternative transcripts): 
    NM_018424.2  NM_019114.3  

    Unigene Cluster for EPB41L4B:

    Erythrocyte membrane protein band 4.1 like 4B
    Hs.591901  [show with all ESTs]
    Unigene Representative Sequence: AF153416
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374566(uc004bdz.1) ENST00000374557(uc004bea.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41L4B
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L4B (see all 70):
    hsa-miR-3607-3p hsa-miR-15a hsa-miR-30d hsa-miR-30a hsa-miR-3613-3p hsa-miR-4324 hsa-miR-1 hsa-miR-335
    SwitchGear 3'UTR luciferase reporter plasmidEPB41L4B 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPB41L4B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L4B
    Clone
    Products:
         
    OriGene clones in human, mouse for EPB41L4B (see all 9)
    OriGene ORF clones in mouse, rat for EPB41L4B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EPB41L4B (NM_018424)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41L4B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L4B
    Sirion Biotech Customized lentivirus for stable overexpression of EPB41L4B 
                         Customized lentivirus expression plasmids for stable overexpression of EPB41L4B 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41L4B
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41L4B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L4B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L4B

    Additional mRNA sequence: 

    AB032179.3 AB209187.1 AF153416.1 AF153418.1 AJ420414.1 AK000388.1 AL353947.1 

    7 DOTS entries:

    DT.100776706  DT.310414  DT.100776707  DT.75142288  DT.100652480  DT.121162433  DT.203968 

    24/131 AceView cDNA sequences (see all 131):

    AI638630 AA447573 BG773741 AW083088 BQ954648 AI142732 F13498 BQ045476 
    AI632258 CB215400 AA468667 CB158900 AI653142 BX477781 BF811165 AK000388 
    AA385570 H94262 AI004660 AJ420414 CR618146 BU630309 AA448069 AL599957 

    GeneLoc Exon Structure


    (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

    EPB41L4B expression in normal human tissues (normalized intensities)      EPB41L4B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EPB41L4B Expression
    About this image


    EPB41L4B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Pancreas (Endocrine System)
             Pancreatic Islet   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac

    See EPB41L4B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L4B

    SOURCE GeneReport for Unigene cluster: Hs.591901
        SABiosciences Custom PCR Arrays for EPB41L4B
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41L4B
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41L4B
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L4B
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L4B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L4B

    (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 EPB41L4B gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.1l4b1 , 5 erythrocyte protein band 4.1-like 4b1, 5 85.89(n)1
    90.23(a)1
      4 (31.66 cM)5
    543571  NM_019427.21  NP_062300.21 
     569919725 
    chicken
    (Gallus gallus)
    Aves EPB41L4B1 erythrocyte membrane protein band 4.1 like 4B 74.83(n)
    76.46(a)
      420962  XM_419046.3  XP_419046.3 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L4B6
    Uncharacterized protein
    87(a)
    1 ↔ 1
    6(57272732-57305047)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.71842 Transcribed sequence with moderate similarity to protein more 80.3(n)    AL848030.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003326271 band 4.1-like protein 4B-like 65.34(n)
    67.04(a)
      100332627  XM_002664903.2  XP_002664949.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta yrt6
    yurt
    29(a)
    1 → many
    3R(9254589-9260704)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-26
    Protein FRM-2, isoform b
    35(a)
    1 → many
    III(5976701-5982127)


    ENSEMBL Gene Tree for EPB41L4B (if available)
    TreeFam Gene Tree for EPB41L4B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L4B gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  FARP12  PTPN42  FRMD52  
    EPB41L32  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    13 SIMAP similar genes for EPB41L4B using alignment to 3 protein entries:     E41LB_HUMAN (see all proteins):
    DKFZp761N1814    EPB41L5    PTPN4    EPB41L4A    EPB41    EPB41L3
    FRMD3    EPB41L2    FRMD5    FARP1    FARP2    FRMD7
    PTPN3

    EPB41L4B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EPB41L4B
    PGOHUM00000238805


    (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

    10/3277 SNPs in EPB41L4B are shown (see all 3277)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416720711,2
    --111933858(+) TTCTGC/GGTGCA 1 -- ds50010--------
    rs1895513071,2
    --111933966(+) TCCCAA/GACCCC 1 -- ds50010--------
    rs1812058831,2
    --111934145(+) ATTGCA/GCCAAT 1 -- ds50010--------
    rs748783661,2
    C--111934218(+) CCCATC/GATTCA 1 -- ds50010--------
    rs107593321,2
    C,F,A,H--111934261(+) AAACCA/GTGGAA 1 -- ut3127Minor allele frequency- G:0.11EA NA NS 2938
    rs1476868751,2
    --111934327(+) AGTAAA/CAGCCA 1 -- ut310--------
    rs1867092531,2
    C--111934400(+) TGGGGA/GAAGCG 1 -- ut310--------
    rs1409386241,2
    --111934442(+) AAACAC/GTGGCC 1 -- ut310--------
    rs1889072081,2
    --111934758(+) TTGCCC/TCGGAT 1 -- ut310--------
    rs674127281,2
    C,F--111934818(+) CATAAT/CATCCT 1 -- ut316Minor allele frequency- C:0.21WA NA 246

    HapMap Linkage Disequilibrium report for EPB41L4B (111934254 - 112083244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for EPB41L4B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738910CNV Deletion23290073
    esv268070CNV Insertion20981092
    esv29273CNV Loss19812545
    nsv831685CNV Gain17160897
    nsv825033CNV Gain20364138
    nsv893706CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EPB41L4B
    DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L4B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610340    OMIM disorders: --

    3 diseases for EPB41L4B:    About MalaCards
    dysautonomia    fibrosarcoma    melanoma


    EPB41L4B for disorders           About GeneDecksing

    Genetic Association Database (GAD): EPB41L4B
    Human Genome Epidemiology (HuGE) Navigator: EPB41L4B (1 document)

    Export disorders for EPB41L4B 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 EPB41L4B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with EPB41L4B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, Ehm2, that is expressed in high-metastatic K1735 murine melanoma cells. (PubMed id 10783258)1, 2, 3 Shimizu K....Yokota J. (2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. (PubMed id 10603000)1, 2 Chadwick B.P.... Slaugenhaupt S.A. (2000)
    4. The expanding family of FERM proteins. (PubMed id 23662806)1 Moleirinho S....Reynolds P.A. (2013)
    5. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    6. 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)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Androgen control of cell proliferation and cytoskeletal reorganization in human fibrosarcoma cells: role of RhoB signaling. (PubMed id 14576147)1 Chauhan S....Miesfeld R.L. (2004)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    10. Androgen regulation of the human FERM domain encoding gene EHM2 in a cell model of steroid-induced differentiation. (PubMed id 14521927)1 Chauhan S....Miesfeld R.L. (2003)

    (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: 54566 HGNC: 19818 AceView: EPB41L4B Ensembl:ENSG00000095203 euGenes: HUgn54566
    ECgene: EPB41L4B H-InvDB: EPB41L4B

    (According to HUGE)
    About This Section
      --

    (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 EPB41L4B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPB41L4B 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 EPB41L4B gene:
    Search GeneIP for patents involving EPB41L4B

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    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 Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for EPB41L4B  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for EPB41L4B  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for EPB41L4B  
     OriGene qSTAR qPCR primer pairs in human, mouse for EPB41L4B   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for EPB41L4B   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EPB41L4B   OriGene Custom Protein Services for EPB41L4B  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EPB41L4B
     QIAGEN SeqTarget long-range PCR primers for resequencing EPB41L4B
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L4B
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L4B
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L4B
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L4B
     GenScript Custom Purified and Recombinant Proteins Services for EPB41L4B GenScript cDNA clones with any tag delivered in your preferred vector for EPB41L4B
     GenScript Custom Assay Services for EPB41L4B GenScript Custom Superior Antibodies Services for EPB41L4B
     GenScript Custom overexpressing Cell Line Services for EPB41L4B 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 EPB41L4B promoter
     Search Chromatin IP Primers for EPB41L4B
     RT2 qPCR Primer Assay in human, mouse, rat EPB41L4B
     Search GNC Networks for EPB41L4B
     SABiosciences Custom PCR Arrays for EPB41L4B
     Search Tocris compounds for EPB41L4B (E41LB)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     EPB41L4B antibodies
     EPB41L4B lysates
     Antibodies for EPB41L4B
     See all of Abcam's Antibodies, Kits and Proteins for EPB41L4B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for EPB41L4B
     Antibodies for EPB41L4B
     ELISAs for EPB41L4B
     CLIAs for EPB41L4B
     Search LifeMap BioReagents cell lines for EPB41L4B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L4B
     SwitchGear 3'UTR luciferase reporter plasmids for EPB41L4B
     SwitchGear Promoter luciferase reporter plasmids for EPB41L4B
     Search ThermoFisher Antibodies for EPB41L4B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41L4B
     inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41L4B
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPB41L4B
    Customized:
     lentivirus for stable overexpression of EPB41L4B
     lentivirus expression plasmids for stable overexpression of EPB41L4B
     adenovirus for overexpression of EPB41L4B
     LSBio Antibodies in human, mouse, rat for EPB41L4B
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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      EPB41L4B gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4