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Aliases for EPB42 Gene

Aliases for EPB42 Gene

  • Erythrocyte Membrane Protein Band 4.2 2 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

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, hereditary, type 5 and hereditary spherocytosis. GO annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.

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

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

Genomics for EPB42 Gene

Regulatory Elements for EPB42 Gene

Genomic Location for EPB42 Gene

Chromosome:
15
Start:
43,106,225 bp from pter
End:
43,225,861 bp from pter
Size:
119,637 bases
Orientation:
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:
    P16452-EPB42_HUMAN
    Recommended name:
    Erythrocyte membrane protein band 4.2
    Protein Accession:
    P16452
    Secondary Accessions:
    • Q4KKX0
    • Q4VB97

    Protein attributes for EPB42 Gene

    Size:
    691 amino acids
    Molecular mass:
    77009 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB42 Gene

Proteomics data for EPB42 Gene at MOPED

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

Antibody Products

No data available for DME Specific Peptides for EPB42 Gene

Domains & Families for EPB42 Gene

Gene Families for EPB42 Gene

Suggested Antigen Peptide Sequences for EPB42 Gene

Graphical View of Domain Structure for InterPro Entry

P16452

UniProtKB/Swiss-Prot:

EPB42_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
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

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

Gene Ontology (GO) - Molecular Function for EPB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12646258
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

No data available for Enzyme Numbers (IUBMB) , miRNA , 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

COMPARTMENTS
Jensen Localization Image for EPB42 Gene COMPARTMENTS Subcellular localization image for EPB42 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for EPB42 Gene

Pathways & Interactions for EPB42 Gene

SuperPathways for EPB42 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0018149 peptide cross-linking IEA --
GO:0043249 erythrocyte maturation IEA --
GO:0050801 ion homeostasis 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:

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: - -
SP7:

Relevant External Links for EPB42 Gene

GeneLoc Exon Structure for
EPB42
ECgene alternative splicing isoforms for
EPB42

Expression for EPB42 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for EPB42 Gene



SOURCE GeneReport for Unigene cluster for EPB42 Gene Hs.368642

genes like me logo Genes that share expression patterns with EPB42: view

Protein tissue co-expression partners for EPB42 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia EPB42 35
  • 82.07 (n)
  • 75.44 (a)
EPB42 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB42 35
  • 84.06 (n)
  • 76.89 (a)
EPB42 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.2 35
  • 79.62 (n)
  • 73.07 (a)
Epb42 16
Epb4.2 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPB42 35
  • 99.31 (n)
  • 98.34 (a)
EPB42 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb42 35
  • 79.46 (n)
  • 73.28 (a)
oppossum
(Monodelphis domestica)
Mammalia EPB42 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves EPB42 35
  • 57.97 (n)
  • 45.01 (a)
EPB42 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB42 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb42 35
  • 51.52 (n)
  • 39.34 (a)
zebrafish
(Danio rerio)
Actinopterygii tgm8 36
  • 27 (a)
OneToMany
Species with no ortholog for EPB42:
  • 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

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

Paralogs for EPB42 Gene

Paralogs for EPB42 Gene

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

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 Sequence Context AA Info Type
VAR_007482 Spherocytosis 5 (SPH5)
VAR_012268 Spherocytosis 5 (SPH5)
VAR_058099 Spherocytosis 5 (SPH5)
VAR_058100 Spherocytosis 5 (SPH5)
rs574531 -- 43,224,808(+) gtctt(A/G)ctctg intron-variant

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)

Relevant External Links for EPB42 Gene

HapMap Linkage Disequilibrium report
EPB42
Human Gene Mutation Database (HGMD)
EPB42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EPB42 Gene

Disorders for EPB42 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search EPB42 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPB42_HUMAN
  • 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.

Relevant External Links for EPB42

Genetic Association Database (GAD)
EPB42
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 4.2 Nippon). (PMID: 1558976) Bouhassira E.E. … Rybicki A.C. (Blood 1992) 3 4 23 48 67
  2. 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 L.J. … Tanner M.J. (Blood 2002) 3 23
  3. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. (PMID: 1284644) White R.A. … Lux S.E. (Nat. Genet. 1992) 2 3
  4. Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (PMID: 21039340) Bustos S.P. … Reithmeier R.A. (Biochem. J. 2011) 3
  5. Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner. (PMID: 20007969) Korsgren C. … Lux S.E. (J. Biol. Chem. 2010) 3

Products for EPB42 Gene

Sources for EPB42 Gene

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