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

EPB42 Gene

protein-coding   GIFtS: 55
GCID: GC15M043398

Erythrocyte Membrane Protein Band 4.2

  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 4.21 2     SPH52 5
Erythrocyte Surface Protein Band 4.21 2     PA2
Erythrocyte Protein 4.22 3     E42P3
P4.22 3     

External Ids:    HGNC: 33811   Entrez Gene: 20382   Ensembl: ENSG000001669477   OMIM: 1770705   UniProtKB: P164523   

Export aliases for EPB42 gene to outside databases

Previous GC identifers: GC15M038857 GC15M036385 GC15M041051 GC15M041205 GC15M041277 GC15M041279 GC15M043487 GC15M020338


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

Entrez Gene summary for EPB42 Gene:
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3
with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the
EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary
hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for EPB42 Gene: 
EPB42 (erythrocyte membrane protein band 4.2) is a protein-coding gene. Diseases associated with EPB42 include spherocytosis, type 5, and spherocytic elliptocytosis. GO annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM3.

UniProtKB/Swiss-Prot: EPB42_HUMAN, P16452
Function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties

Gene Wiki entry for EPB42 (Protein 4.2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB42 gene promoter:
         Nkx3-1 v4   Pbx1a   NF-kappaB   Meis-1b   AREB6   Meis-1a   MRF-2   NF-kappaB1   Meis-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB42 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB42

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB42


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

Entrez Gene cytogenetic band: 15q15-q21   Ensembl cytogenetic band:  15q15.2   HGNC cytogenetic band: 15q15-q21

EPB42 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB42 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043398:  view genomic region     (about GC identifiers)

Start:
43,398,423 bp from pter      End:
43,513,481 bp from pter
Size:
115,059 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: EPB42_HUMAN, P16452 (See protein sequence)
Recommended Name: Erythrocyte membrane protein band 4.2  
Size: 691 amino acids; 77009 Da
Subunit: Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic
surface of erythrocyte membranes
Miscellaneous: The substitution of an Ala for a Cys in the active site may be responsible for the lack of
transglutaminase activity of band 4.2
Sequence caution: Sequence=AAA36401.1; Type=Frameshift; Positions=335, 340; Sequence=AAA36402.1; Type=Frameshift;
Positions=335, 340;
Secondary accessions: Q4VB97
Alternative splicing: 2 isoforms:  P16452-1   P16452-2   (Major isoform)

Explore the universe of human proteins at neXtProt for EPB42: NX_P16452

Explore proteomics data for EPB42 at MOPED 

Post-translational modifications:

  • UniProtKB: Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to
    phosphorylate EPB42
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16452

  • EPB42 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB42 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000110.2  NP_001107606.1  

    ENSEMBL proteins: 
     ENSP00000300215   ENSP00000444699   ENSP00000396616   ENSP00000457140   ENSP00000457757  
     ENSP00000455489  

    Human Recombinant Protein Products for EPB42: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for EPB42 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton TAS1350227
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0030863cortical cytoskeleton IEA--

    EPB42 for ontologies           About GeneDecksing



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

    5/7 InterPro protein domains (see all 7):
     IPR008958 Transglutaminase_C
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR001102 Transglutaminase_N
     IPR013808 Transglutaminase_CS

    Graphical View of Domain Structure for InterPro Entry P16452

    ProtoNet protein and cluster: P16452

    1 Blocks protein domain: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: EPB42_HUMAN, P16452
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    EPB42 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPB42_HUMAN, P16452
    Function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties

         Genatlas biochemistry entry for EPB42:
    erythrocyte surface protein,band 4.2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IEA--
    GO:0005200structural constituent of cytoskeleton TAS1350227
    GO:0005515protein binding IPI12646258
    GO:0005524ATP binding TAS8608138
         
    EPB42 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EPB42:
     Synthetic lethal with imatinib 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Epb4.2):
     hematopoietic system  homeostasis/metabolism  immune system 

    EPB42 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epb4.2Epb4.tm1Llp for EPB42

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB42 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB42


    (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 EPB42

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for EPB42 (P164521, 3 ENSP000003002154) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPINK7P580621, 3, ENSP000002745654EBI-1182496,EBI-1182445 I2D: score=4 STRING: ENSP00000274565
    ANK1P161573, ENSP000002657094I2D: score=1 STRING: ENSP00000265709
    ANK2Q014843, ENSP000003495884I2D: score=1 STRING: ENSP00000349588
    SLC4A2P049203, ENSP000003114024I2D: score=1 STRING: ENSP00000311402
    STX12Q86Y823, ENSP000003630544I2D: score=1 STRING: ENSP00000363054
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0008360regulation of cell shape IEA--
    GO:0018149peptide cross-linking IEA--
    GO:0020027hemoglobin metabolic process IEA--
    GO:0043249erythrocyte maturation IEA--

    EPB42 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 EPB42

    1 HMDB Compound for EPB42    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Search CenterWatch for drugs/clinical trials and news about EPB42

    (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 EPB42 gene (2 alternative transcripts): 
    NM_000119.2  NM_001114134.1  

    Unigene Cluster for EPB42:

    Erythrocyte membrane protein band 4.2
    Hs.368642  [show with all ESTs]
    Unigene Representative Sequence: M60298
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570199 ENST00000563128 ENST00000300215(uc001zrb.4 uc001zra.4 uc010udm.2)
    ENST00000540029 ENST00000441366 ENST00000568508 ENST00000567019(uc001zqz.4)
    ENST00000565459 ENST00000569204
    miRNA
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    Additional mRNA sequence: 

    AK297146.1 AK297663.1 BC096093.4 BC096094.2 BC096095.4 BC099627.1 M29399.1 M30646.1 
    M30647.1 M60298.1 

    8 DOTS entries:

    DT.451589  DT.100751104  DT.95153909  DT.100843638  DT.121051413  DT.103258  DT.109856  DT.92417219 

    24/221 AceView cDNA sequences (see all 221):

    BQ002107 CB129142 AW137583 BM718298 CB159971 AK054969 AI627299 AI817137 
    AI929033 BX103491 H90577 BQ942625 BM976310 AK027803 AA300527 BU677521 
    AI582335 F09396 BX463138 AA946678 CR593742 CB120626 NM_174916 BM508126 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for EPB42 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for EPB42

    (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

    EPB42 expression in normal human tissues (normalized intensities)      EPB42 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EPB42 Expression
    About this image


    EPB42 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Cord Blood CD133- Cells   
             neutrophils   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

    See EPB42 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB42

    SOURCE GeneReport for Unigene cluster: Hs.368642
        SABiosciences Custom PCR Arrays for EPB42
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB42
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB42

    (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 chordates.

    Orthologs for EPB42 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.21 , 5 erythrocyte protein band 4.21, 5 79.62(n)1
    73.07(a)1
      2 (60.37 cM)5
    138281  NM_013513.21  NP_038541.11 
     1210178915 
    chicken
    (Gallus gallus)
    Aves EPB421 erythrocyte membrane protein band 4.2 57.72(n)
    45.01(a)
      419216  XM_417393.3  XP_417393.2 
    lizard
    (Anolis carolinensis)
    Reptilia EPB426
    Uncharacterized protein
    39(a)
    1 ↔ 1
    GL343820.1(21295-34359)
    zebrafish
    (Danio rerio)
    Actinopterygii tgm5l6
    transglutaminase 5, like
    28(a)
    possible ortholog
    Zv9_scaffold3522(24531-41501)


    ENSEMBL Gene Tree for EPB42 (if available)
    TreeFam Gene Tree for EPB42 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB42 gene
    TGM32  F13A12  TGM12  TGM52  TGM72  TGM42  TGM22  TGM62  
    8 SIMAP similar genes for EPB42 using alignment to 7 protein entries:     EPB42_HUMAN (see all proteins):
    F13A1    hTGP    TGM2    TGM1    TGM3    TGM6
    TGM7    TGM4

    EPB42 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/569 SNPs in EPB42 are shown (see all 569)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0122684
    Spherocytosis 5 (SPH5)4--see VAR_0122682 R Q mis40--------
    VAR_0581004
    Spherocytosis 5 (SPH5)4--see VAR_0581002 R C mis40--------
    VAR_0074824
    Spherocytosis 5 (SPH5)4--see VAR_0074822 A T mis40--------
    VAR_0580994
    Spherocytosis 5 (SPH5)4--see VAR_0580992 D Y mis40--------
    rs1159984651,2
    Cpathogenic123561529(+) TCGCTA/C/GAAAAT 4 E * stg11WA 118
    rs1048944871,2
    Cpathogenic123573484(-) CGGACG/ACTGTC 4 /T /A mis11Minor allele frequency- A:0.01EA 208
    rs11393101,2
    F,H--23555196(+) gggagG/Ctgttt 2 -- ds50018Minor allele frequency- C:0.02MN NS EA NA WA 718
    rs743296631,2
    --23555251(+) AAGTTC/GTCGCT 2 -- ds50010--------
    rs1819360601,2
    --23555253(+) GTTCTC/TGCTCT 2 -- ds50010--------
    rs758389311,2
    C--23555346(+) GCCCTA/GTGATC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for EPB42 (43398423 - 43513481 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for EPB42: --

    Human Gene Mutation Database (HGMD): EPB42
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 177070   
    OMIM disorders: 612690  
    UniProtKB/Swiss-Prot: EPB42_HUMAN, P16452
  • Spherocytosis 5 (SPH5) [MIM:612690]: Spherocytosis is a hematologic disorder leading to chronic hemolytic
    anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of
    band 4.2 associated with spur or target erythrocytes has also been reported. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 13 diseases for EPB42:    About MalaCards
    spherocytosis, type 5    spherocytic elliptocytosis    spherocytosis, hereditary, type 5    congenital dyserythropoietic anemia type i
    arachnoiditis    congenital dyserythropoietic anemia    arachnoid cysts    platelet storage pool deficiency
    hereditary elliptocytosis    hemolytic anemia    hermansky-pudlak syndrome    anemia
    esophagitis

    2 diseases from the University of Copenhagen DISEASES database for EPB42:
    Hereditary spherocytosis     Hereditary elliptocytosis

    EPB42 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for EPB42 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spherocytosis hereditary 87.1 1 12432217 (1)

    Genetic Association Database (GAD): EPB42

    Export disorders for EPB42 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 EPB42 gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with EPB42)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2 Nippon). (PubMed id 1558976)1, 2, 4, 9 Bouhassira E.E.... Rybicki A.C. (1992)
    2. A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. (PubMed id 7772513)1, 2, 4 Hayette S.... Delaunay J. (1995)
    3. A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. (PubMed id 7803799)1, 4 Hayette S....Morle L. (1995)
    4. Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. (PubMed id 8547605)2, 4 Kanzaki A.... Matsuda T. (1995)
    5. A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (PubMed id 7819064)1, 2 Takaoka Y....Fukumaki Y. (1994)
    6. Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2). (PubMed id 8499466)1, 2 Dotimas E.... Cohen C.M. (1993)
    7. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. (PubMed id 1284644)1, 3 White R.A....Lux S.E. (1992)
    8. Human erythrocyte protein 4.2, a high copy number membrane protein, is N-myristylated. (PubMed id 1544941)1, 2 Risinger M.A.... Cohen C.M. (1992)
    9. Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the a subunit of factor XIII. (PubMed id 2052563)1, 2 Korsgren C. and Cohen C.M. (1991)
    10. Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane. (PubMed id 1689063)1, 2 Sung L.A.... Rybicki A.C. (1990)

    (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: 2038 HGNC: 3381 AceView: EPB42andUBR1andLOC390580 Ensembl:ENSG00000166947 euGenes: HUgn2038
    ECgene: EPB42 H-InvDB: EPB42

    (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 EPB42 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 EPB42 gene:
    Search GeneIP for patents involving EPB42

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



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