Seroatlas · Human Serome Atlas

EPB42

Protein 4.2

Also known as: EPB42_HUMAN, MGC116735, MGC116737, PA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P16452
Gene
EPB42
Ensembl
ENSG00000166947
Chromosome
15
Canonical length
691 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

691 residues, UniProt reviewed canonical sequence.

>P16452|EPB42
     1  MGQALGIKSC DFQAARNNEE HHTKALSSRR LFVRRGQPFT IILYFRAPVR AFLPALKKVA
    61  LTAQTGEQPS KINRTQATFP ISSLGDRKWW SAVVEERDAQ SWTISVTTPA DAVIGHYSLL
   121  LQVSGRKQLL LGQFTLLFNP WNREDAVFLK NEAQRMEYLL NQNGLIYLGT ADCIQAESWD
   181  FGQFEGDVID LSLRLLSKDK QVEKWSQPVH VARVLGALLH FLKEQRVLPT PQTQATQEGA
   241  LLNKRRGSVP ILRQWLTGRG RPVYDGQAWV LAAVACTVLR CLGIPARVVT TFASAQGTGG
   301  RLLIDEYYNE EGLQNGEGQR GRIWIFQTST ECWMTRPALP QGYDGWQILH PSAPNGGGVL
   361  GSCDLVPVRA VKEGTLGLTP AVSDLFAAIN ASCVVWKCCE DGTLELTDSN TKYVGNNIST
   421  KGVGSDRCED ITQNYKYPEG SLQEKEVLER VEKEKMEREK DNGIRPPSLE TASPLYLLLK
   481  APSSLPLRGD AQISVTLVNH SEQEKAVQLA IGVQAVHYNG VLAAKLWRKK LHLTLSANLE
   541  KIITIGLFFS NFERNPPENT FLRLTAMATH SESNLSCFAQ EDIAICRPHL AIKMPEKAEQ
   601  YQPLTASVSL QNSLDAPMED CVISILGRGL IHRERSYRFR SVWPENTMCA KFQFTPTHVG
   661  LQRLTVEVDC NMFQNLTNYK SVTVVAPELS A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPB42 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
93 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 93 nTPM
  • placenta: 3 nTPM
  • adipose tissue: 2.9 nTPM
  • spleen: 2.8 nTPM
  • testis: 2.2 nTPM
  • breast: 0.5 nTPM

Single-cell type

  • erythrocyte progenitors: 142 nCPM
  • erythrocytes: 82 nCPM
  • epicardial cells: 9.1 nCPM
  • early primary spermatocytes: 8.7 nCPM
  • megakaryocyte-erythroid progenitors: 5.2 nCPM
  • adipocytes: 3.8 nCPM

Immune cell

  • total PBMC: 1 nTPM
  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • cerebellum: 0.5 nTPM
  • midbrain: 0.5 nTPM
  • cerebral cortex: 0.4 nTPM
  • pons: 0.4 nTPM
  • amygdala: 0.3 nTPM
  • basal ganglia: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPB42.

Disease | AllUniProt

Conditions EPB42 is implicated in, by any mechanism.

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 295 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hereditary spherocytosis type 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.77
gnomAD pLI
0
gnomAD missense Z
0.94
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPB42 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EPB42 as an antibody target. Whether an autoantibody or antibody against EPB42 could matter depends on whether native EPB42 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPB42 is annotated at the cell surface, where native EPB42 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EPB42 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EPB42. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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