Seroatlas · Human Serome Atlas

EPS8

Epidermal growth factor receptor kinase substrate 8

Also known as: EPS8_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q12929
Gene
EPS8
Ensembl
ENSG00000151491
Chromosome
12
Canonical length
822 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

822 residues, UniProt reviewed canonical sequence.

>Q12929|EPS8
     1  MNGHISNHPS SFGMYPSQMN GYGSSPTFSQ TDREHGSKTS AKALYEQRKN YARDSVSSVS
    61  DISQYRVEHL TTFVLDRKDA MITVDDGIRK LKLLDAKGKV WTQDMILQVD DRAVSLIDLE
   121  SKNELENFPL NTIQHCQAVM HSCSYDSVLA LVCKEPTQNK PDLHLFQCDE VKANLISEDI
   181  ESAISDSKGG KQKRRPDALR MISNADPSIP PPPRAPAPAP PGTVTQVDVR SRVAAWSAWA
   241  ADQGDFEKPR QYHEQEETPE MMAARIDRDV QILNHILDDI EFFITKLQKA AEAFSELSKR
   301  KKNKKGKRKG PGEGVLTLRA KPPPPDEFLD CFQKFKHGFN LLAKLKSHIQ NPSAADLVHF
   361  LFTPLNMVVQ ATGGPELASS VLSPLLNKDT IDFLNYTVNG DERQLWMSLG GTWMKARAEW
   421  PKEQFIPPYV PRFRNGWEPP MLNFMGATME QDLYQLAESV ANVAEHQRKQ EIKRLSTEHS
   481  SVSEYHPADG YAFSSNIYTR GSHLDQGEAA VAFKPTSNRH IDRNYEPLKT QPKKYAKSKY
   541  DFVARNNSEL SVLKDDILEI LDDRKQWWKV RNASGDSGFV PNNILDIVRP PESGLGRADP
   601  PYTHTIQKQR MEYGPRPADT PPAPSPPPTP APVPVPLPPS TPAPVPVSKV PANITRQNSS
   661  SSDSGGSIVR DSQRHKQLPV DRRKSQMEEV QDELIHRLTI GRSAAQKKFH VPRQNVPVIN
   721  ITYDSTPEDV KTWLQSKGFN PVTVNSLGVL NGAQLFSLNK DELRTVCPEG ARVYSQITVQ
   781  KAALEDSSGS SELQEIMRRR QEKISAAASD SGVESFDEGS SH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPS8 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
101 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 101 nTPM
  • adipose tissue: 86 nTPM
  • ovary: 62 nTPM
  • gallbladder: 53 nTPM
  • kidney: 52 nTPM
  • endometrium: 51 nTPM

Single-cell type

  • renal collecting duct intercalated cells: 1,399 nCPM
  • pericytes: 1,360 nCPM
  • colonocytes: 905 nCPM
  • endometrial glandular cells: 884 nCPM
  • vascular smooth muscle cells: 655 nCPM
  • rod photoreceptor cells: 611 nCPM

Immune cell

  • non-classical monocyte: 22 nTPM
  • intermediate monocyte: 11 nTPM
  • myeloid DC: 5.5 nTPM
  • neutrophil: 4.4 nTPM
  • classical monocyte: 2.7 nTPM
  • total PBMC: 1.6 nTPM

Brain region

  • midbrain: 47 nTPM
  • white matter: 46 nTPM
  • medulla oblongata: 45 nTPM
  • pons: 41 nTPM
  • hypothalamus: 40 nTPM
  • basal ganglia: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPS8.

Disease | AllUniProt

Conditions EPS8 is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 102 (DFNB102) MIM:615974

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 438 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal recessive nonsyndromic hearing loss 102

Disease | ImmuneIEDB

Conditions an epitope on EPS8 was assayed in.

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)
0.31
gnomAD pLI
0.97
gnomAD missense Z
0.81
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 EPS8 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 EPS8 as an antibody target. Whether an autoantibody or antibody against EPS8 could matter depends on whether native EPS8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPS8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EPS8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EPS8. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...