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EPB42 Gene

protein-coding   GIFtS: 55
GCID: GC15M043398

Erythrocyte Membrane Protein Band 4.2

  See EPB42-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for EPB42 gene to outside databases

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 epb42-related hereditary spherocytosis, and spherocytosis, hereditary, type 5. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   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 Chromatin IP Primers for EPB42

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to
    phosphorylate EPB421
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPB42 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000300215   ENSP00000444699   ENSP00000396616   ENSP00000457140   ENSP00000457757  
     ENSP00000455489  

    EPB42 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EPB42

     
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    antibodies-online proteins for EPB42 (6 products) 

     
    antibodies-online peptides for EPB42

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    antibodies-online kits for EPB42 (6 products) 


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

    Selected 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


    Find genes that share domains with EPB42           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with EPB42           About GenesLikeMe


    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 

    Find genes that share phenotypes with EPB42           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for EPB42

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    GenScript: all cDNA clones in your preferred vector (see all 2): EPB42 (NM_000119)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPB42_HUMAN, P16452: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic
    surface of erythrocyte membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with EPB42           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPB42
    Interactions:

        Search GeneGlobe Interaction Network for EPB42

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

    Selected 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): Selected biological process terms (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--

    Find genes that share ontologies with EPB42           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EPB42

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



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 

    Selected AceView cDNA sequences (see all 221):

    AI168282 BQ002107 AI065088 AA805635 AI333662 NM_174916 BX463138 AI399787 
    AI817137 CB159971 BX448721 AA946678 BM976310 AI929033 BQ942625 H90577 
    AA300527 CA313244 AK056441 CA417209 AI928868 BM508126 AL557858 AK027803 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPB42 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
    EPB42 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPB42 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368642
        Custom PCR Arrays for EPB42
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EPB42 gene from Selected species (see all 11)    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 57.97(n)
    45.01(a)
      419216  XM_417393.4  XP_417393.2 
    lizard
    (Anolis carolinensis)
    Reptilia EPB426
    erythrocyte membrane protein band 4.2
    39(a)
    1 ↔ 1
    GL343820.1(21295-34359)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia epb421 erythrocyte membrane protein band 4.2 51.52(n)
    39.34(a)
      100487946  XM_002935541.2  XP_002935587.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tgm86
    transglutaminase 8
    27(a)
    1 → many
    6(59700726-59704992) ENSDARG00000097651


    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)
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    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

    Find genes that share paralogs with EPB42           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPB42 (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--------
    rs289339881,2,4
    Spherocytosis 5 (SPH5)4--see VAR_0074822 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPB42
    DNA2.0 Custom Variant and Variant Library Synthesis for EPB42

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

  • 9 diseases for EPB42:    
    About MalaCards
    epb42-related hereditary spherocytosis    spherocytosis, hereditary, type 5    epb42-related spherocytosis    congenital dyserythropoietic anemia type i
    hereditary spherocytosis    platelet storage pool deficiency    congenital dyserythropoietic anemia    hereditary elliptocytosis
    hemolytic anemia

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

    Find genes that share disorders with EPB42           About GenesLikeMe

    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

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    PubMed articles for EPB42 gene, integrated from 10 sources (see all 50):
    (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. (Blood 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. (Br. J. Haematol. 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....MorlAc L. (Blood 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. (Int. J. Hematol. 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. (Br. J. Haematol. 1994)
    6. Structural domain mapping and phosphorylation of human erythrocyte pallidin (band 4.2). (PubMed id 8499466)1, 2 Dotimas E.... Cohen C.M. (Biochim. Biophys. Acta 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. (Nat. Genet. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Proc. Natl. Acad. Sci. U.S.A. 1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2038 HGNC: 3381 AceView: EPB42andUBR1andLOC390580 Ensembl:ENSG00000166947 euGenes: HUgn2038
    ECgene: EPB42 H-InvDB: EPB42

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EPB42 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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