Seroatlas · Human Serome Atlas

EPS8L2

Epidermal growth factor receptor kinase substrate 8-like protein 2

Also known as: ES8L2_HUMAN, FLJ21935, FLJ22171, MGC3088

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

Protein identityUniProt · HPA

UniProt accession: Q9H6S3
Gene: EPS8L2
Ensembl: ENSG00000177106
Chromosome: 11
Canonical length: 715 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Centrosome,Cytosol

OverviewNCBI Gene

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

715 residues, UniProt reviewed canonical sequence.

>Q9H6S3|EPS8L2
     1  MSQSGAVSCC PGATNGSLGR SDGVAKMSPK DLFEQRKKYS NSNVIMHETS QYHVQHLATF
    61  IMDKSEAITS VDDAIRKLVQ LSSKEKIWTQ EMLLQVNDQS LRLLDIESQE ELEDFPLPTV
   121  QRSQTVLNQL RYPSVLLLVC QDSEQSKPDV HFFHCDEVEA ELVHEDIESA LADCRLGKKM
   181  RPQTLKGHQE KIRQRQSILP PPQGPAPIPF QHRGGDSPEA KNRVGPQVPL SEPGFRRRES
   241  QEEPRAVLAQ KIEKETQILN CALDDIEWFV ARLQKAAEAF KQLNQRKKGK KKGKKAPAEG
   301  VLTLRARPPS EGEFIDCFQK IKLAINLLAK LQKHIQNPSA AELVHFLFGP LDLIVNTCSG
   361  PDIARSVSCP LLSRDAVDFL RGHLVPKEMS LWESLGESWM RPRSEWPREP QVPLYVPKFH
   421  SGWEPPVDVL QEAPWEVEGL ASAPIEEVSP VSRQSIRNSQ KHSPTSEPTP PGDALPPVSS
   481  PHTHRGYQPT PAMAKYVKIL YDFTARNANE LSVLKDEVLE VLEDGRQWWK LRSRSGQAGY
   541  VPCNILGEAR PEDAGAPFEQ AGQKYWGPAS PTHKLPPSFP GNKDELMQHM DEVNDELIRK
   601  ISNIRAQPQR HFRVERSQPV SQPLTYESGP DEVRAWLEAK AFSPRIVENL GILTGPQLFS
   661  LNKEELKKVC GEEGVRVYSQ LTMQKAFLEK QQSGSELEEL MNKFHSMNQR RGEDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPS8L2 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): 0.41
Highest tissue expression: 184 nTPM

Expression across tissuesHPA

Tissue

esophagus: 184 nTPM
kidney: 122 nTPM
liver: 101 nTPM
small intestine: 97 nTPM
duodenum: 94 nTPM
salivary gland: 92 nTPM

Single-cell type

esophageal apical cells: 1,189 nCPM
enterocytes: 242 nCPM
alveolar cells type 1: 217 nCPM
esophageal suprabasal cells: 210 nCPM
tuft cells: 185 nCPM
proximal tubule cells: 181 nCPM

Immune cell

plasmacytoid DC: 1.4 nTPM
eosinophil: 0.3 nTPM
neutrophil: 0.1 nTPM
NK-cell: 0.1 nTPM
total PBMC: 0.1 nTPM
basophil: 0 nTPM

Brain region

medulla oblongata: 24 nTPM
cerebellum: 23 nTPM
midbrain: 23 nTPM
hypothalamus: 20 nTPM
pons: 18 nTPM
spinal cord: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPS8L2.

Disease | AllUniProt

Conditions EPS8L2 is implicated in, by any mechanism.

Deafness, autosomal recessive, 106 (DFNB106) MIM:617637

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 437 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hearing loss, autosomal recessive 106

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): 0.63
gnomAD pLI: 0
gnomAD missense Z: -0.8
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 EPS8L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ABI1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EPS8L2 as an antibody target. Whether an autoantibody or antibody against EPS8L2 could matter depends on whether native EPS8L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPS8L2 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 EPS8L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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