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Aliases for EPB42 Gene

Aliases for EPB42 Gene

  • Erythrocyte Membrane Protein Band 4.2 2 3 3 5
  • Erythrocyte Surface Protein Band 4.2 2 3
  • Erythrocyte Protein 4.2 3 4
  • P4.2 3 4
  • SPH5 3
  • E42P 4
  • PA 3

External Ids for EPB42 Gene

Previous GeneCards Identifiers for EPB42 Gene

  • GC15M038857
  • GC15M036385
  • GC15M041051
  • GC15M041205
  • GC15M041277
  • GC15M041279
  • GC15M043487
  • GC15M020338
  • GC15M043398
  • GC15M043107

Summaries for EPB42 Gene

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 Hereditary Spherocytosis. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM2.

UniProtKB/Swiss-Prot for EPB42 Gene

  • Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

Gene Wiki entry for EPB42 Gene

Additional gene information for EPB42 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB42 Gene

Genomics for EPB42 Gene

GeneHancer (GH) Regulatory Elements for EPB42 Gene

Promoters and enhancers for EPB42 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J043220 Promoter/Enhancer 1.3 EPDnew ENCODE 650.7 +4.6 4622 1 HDAC1 ARNT RARA CHAMP1 TCF12 ZNF766 GATA2 SIRT6 ETV6 ZBTB11 EPB42 CATSPER2 ENSG00000285117
GH15J043225 Enhancer 0.7 ENCODE 650.7 +0.2 223 0.2 CTCF RB1 RAD21 CHAMP1 CC2D1A MTA3 ARID2 ZNF143 SMC3 ZSCAN29 EPB42 TGM5 CCNDBP1 TGM7 ENSG00000285117
GH15J043218 Enhancer 1 FANTOM5 Ensembl ENCODE 45.2 +6.7 6654 1.1 CTCF HLF ZNF148 GATA3 ZNF143 ZBTB33 RCOR1 KDM1A CREM EPB42 CCNDBP1 ENSG00000285117
GH15J043230 Enhancer 0.9 ENCODE 0.7 -4.9 -4867 1 HDGF TCF12 ZNF766 GATA2 ZFP91 ATF7 NCOA1 ZNF592 ATF4 GMEB1 CCNDBP1 TGM5 TGM7 EPB42 ENSG00000202211
GH15J043239 Enhancer 0.9 Ensembl ENCODE 0.4 -14.0 -13992 0.7 ELF3 SOX13 SAP130 MAX EBF1 BATF FOSL1 POLR2A ZSCAN29 ATF7 ENSG00000202211 EPB42 TGM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPB42 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPB42 gene promoter:
  • MRF-2
  • AREB6
  • NF-kappaB1
  • NF-kappaB
  • Meis-1b
  • Meis-1a
  • Meis-1
  • ATF6
  • Pbx1a
  • Nkx3-1 v4

Genomic Locations for EPB42 Gene

Genomic Locations for EPB42 Gene
28,635 bases
Minus strand
115,059 bases
Minus strand

Genomic View for EPB42 Gene

Genes around EPB42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB42 Gene

Proteins for EPB42 Gene

  • Protein details for EPB42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Erythrocyte membrane protein band 4.2
    Protein Accession:
    Secondary Accessions:
    • Q4KKX0
    • Q4VB97

    Protein attributes for EPB42 Gene

    691 amino acids
    Molecular mass:
    77009 Da
    Quaternary structure:
    • Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein.
    • 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=AAA36401.1; Type=Frameshift; Positions=335, 340; Evidence={ECO:0000305}; Sequence=AAA36402.1; Type=Frameshift; Positions=335, 340; Evidence={ECO:0000305};

    Alternative splice isoforms for EPB42 Gene


neXtProt entry for EPB42 Gene

Post-translational modifications for EPB42 Gene

  • Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPB42 Gene

Domains & Families for EPB42 Gene

Gene Families for EPB42 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPB42 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the transglutaminase superfamily. Transglutaminase family.
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with EPB42: view

Function for EPB42 Gene

Molecular function for EPB42 Gene

UniProtKB/Swiss-Prot Function:
Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
GENATLAS Biochemistry:
erythrocyte surface protein,band 4.2

Gene Ontology (GO) - Molecular Function for EPB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 1350227
GO:0005515 protein binding IPI 12646258
GO:0005524 ATP binding TAS 8608138
genes like me logo Genes that share ontologies with EPB42: view
genes like me logo Genes that share phenotypes with EPB42: view

Human Phenotype Ontology for EPB42 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPB42 Gene

MGI Knock Outs for EPB42:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for EPB42 Gene

Localization for EPB42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB42 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPB42 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EPB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA,TAS --
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0030863 cortical cytoskeleton IEA --
genes like me logo Genes that share ontologies with EPB42: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPB42 Gene

Pathways & Interactions for EPB42 Gene

SuperPathways for EPB42 Gene

No Data Available

Interacting Proteins for EPB42 Gene

Gene Ontology (GO) - Biological Process for EPB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008360 regulation of cell shape IEA --
GO:0018149 peptide cross-linking IEA --
GO:0020027 hemoglobin metabolic process IEA --
GO:0043249 erythrocyte maturation IEA --
genes like me logo Genes that share ontologies with EPB42: view

No data available for Pathways by source and SIGNOR curated interactions for EPB42 Gene

Drugs & Compounds for EPB42 Gene

(1) Drugs for EPB42 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with EPB42: view

Transcripts for EPB42 Gene

Unigene Clusters for EPB42 Gene

Erythrocyte membrane protein band 4.2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPB42 Gene

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: - -
SP6: - -

Relevant External Links for EPB42 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPB42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPB42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPB42 Gene

This gene is overexpressed in Whole Blood (x25.8).

Protein differential expression in normal tissues from HIPED for EPB42 Gene

This gene is overexpressed in Neutrophil (35.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPB42 Gene

Protein tissue co-expression partners for EPB42 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPB42 Gene:


SOURCE GeneReport for Unigene cluster for EPB42 Gene:


Evidence on tissue expression from TISSUES for EPB42 Gene

  • Blood(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB42 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with EPB42: view

No data available for mRNA Expression by UniProt/SwissProt for EPB42 Gene

Orthologs for EPB42 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPB42 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EPB42 34 33
  • 99.31 (n)
(Canis familiaris)
Mammalia EPB42 34 33
  • 84.06 (n)
(Bos Taurus)
Mammalia EPB42 34 33
  • 82.07 (n)
(Mus musculus)
Mammalia Epb4.2 34 33
  • 79.62 (n)
Epb42 16
(Rattus norvegicus)
Mammalia Epb42 33
  • 79.46 (n)
(Monodelphis domestica)
Mammalia EPB42 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
(Gallus gallus)
Aves EPB42 34 33
  • 57.97 (n)
(Anolis carolinensis)
Reptilia EPB42 34
  • 39 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epb42 33
  • 51.52 (n)
(Danio rerio)
Actinopterygii tgm8 34
  • 27 (a)
Species where no ortholog for EPB42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPB42 Gene

Gene Tree for EPB42 (if available)
Gene Tree for EPB42 (if available)
Evolutionary constrained regions (ECRs) for EPB42: view image

Paralogs for EPB42 Gene

Paralogs for EPB42 Gene

(8) SIMAP similar genes for EPB42 Gene using alignment to 7 proteins:

  • F5H563_HUMAN
  • Q4VB96_HUMAN
genes like me logo Genes that share paralogs with EPB42: view

Variants for EPB42 Gene

Sequence variations from dbSNP and Humsavar for EPB42 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1027033090 uncertain-significance, Spherocytosis, Recessive 43,221,108(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1042168 benign, likely-benign, not specified, Spherocytosis, Recessive 43,215,195(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs104894487 conflicting-interpretations-of-pathogenicity, Spherocytosis type 5, Spherocytosis 5 (SPH5) [MIM:612690] 43,215,191(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs114136713 likely-benign, uncertain-significance, not specified, Spherocytosis, Recessive 43,211,512(-) A/G 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs114354377 uncertain-significance, Spherocytosis, Recessive 43,203,127(-) G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for EPB42 Gene

Variant ID Type Subtype PubMed ID
nsv569241 CNV loss 21841781

Variation tolerance for EPB42 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPB42 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB42 Gene

Disorders for EPB42 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EPB42 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spherocytosis, type 5
  • sph5
hereditary spherocytosis
  • spherocytosis, type 1
hemolytic anemia
  • anemia hemolytic
- elite association - COSMIC cancer census association via MalaCards
Search EPB42 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:10406914, ECO:0000269 PubMed:1558976, ECO:0000269 PubMed:7772513, ECO:0000269 PubMed:7819064, ECO:0000269 PubMed:8547071, ECO:0000269 PubMed:8547605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EPB42

genes like me logo Genes that share disorders with EPB42: view

No data available for Genatlas for EPB42 Gene

Publications for EPB42 Gene

  1. An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). (PMID: 1558976) Bouhassira EE … Rybicki AC (Blood 1992) 3 4 22 44 58
  2. A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. (PMID: 7772513) Hayette S … Delaunay J (British journal of haematology 1995) 3 4 44 58
  3. Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. (PMID: 12176912) Bruce LJ … Tanner MJ (Blood 2002) 3 22 58
  4. A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. (PMID: 7803799) Hayette S … Morlé L (Blood 1995) 3 44 58
  5. 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. (PMID: 8547605) Kanzaki A … Hayette S (International journal of hematology 1995) 4 44 58

Products for EPB42 Gene

Sources for EPB42 Gene

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