Seroatlas · Human Serome Atlas

ESCO2

N-acetyltransferase ESCO2

Also known as: EFO2, ESCO2_HUMAN, RBS

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

Protein identityUniProt · HPA

UniProt accession: Q56NI9
Gene: ESCO2
Ensembl: ENSG00000171320
Chromosome: 8
Canonical length: 601 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Cell Junctions

OverviewNCBI Gene

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

601 residues, UniProt reviewed canonical sequence.

>Q56NI9|ESCO2
     1  MAALTPRKRK QDSLKCDSLL HFTENLFPSP NKKHCFYQNS DKNEENLHCS QQEHFVLSAL
    61  KTTEINRLPS ANQGSPFKSA LSTVSFYNQN KWYLNPLERK LIKESRSTCL KTNDEDKSFP
   121  IVTEKMQGKP VCSKKNNKKP QKSLTAKYQP KYRHIKPVSR NSRNSKQNRV IYKPIVEKEN
   181  NCHSAENNSN APRVLSQKIK PQVTLQGGAA FFVRKKSSLR KSSLENEPSL GRTQKSKSEV
   241  IEDSDVETVS EKKTFATRQV PKCLVLEEKL KIGLLSASSK NKEKLIKDSS DDRVSSKEHK
   301  VDKNEAFSSE DSLGENKTIS PKSTVYPIFS ASSVNSKRSL GEEQFSVGSV NFMKQTNIQK
   361  NTNTRDTSKK TKDQLIIDAG QKHFGATVCK SCGMIYTASN PEDEMQHVQH HHRFLEGIKY
   421  VGWKKERVVA EFWDGKIVLV LPHDPSFAIK KVEDVQELVD NELGFQQVVP KCPNKIKTFL
   481  FISDEKRVVG CLIAEPIKQA FRVLSEPIGP ESPSSTECPR AWQCSDVPEP AVCGISRIWV
   541  FRLKRRKRIA RRLVDTLRNC FMFGCFLSTD EIAFSDPTPD GKLFATKYCN TPNFLVYNFN
   601  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESCO2 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): 0.58
Highest tissue expression: 10 nTPM

Expression across tissuesHPA

Tissue

duodenum: 10 nTPM
thymus: 7.9 nTPM
small intestine: 7.4 nTPM
bone marrow: 5.6 nTPM
testis: 5.4 nTPM
tonsil: 5.4 nTPM

Single-cell type

oocytes: 336 nCPM
early primary spermatocytes: 127 nCPM
erythrocyte progenitors: 80 nCPM
differentiating spermatogonia: 78 nCPM
monocyte progenitors: 49 nCPM
cardiomyocytes: 42 nCPM

Immune cell

T-reg: 1.4 nTPM
myeloid DC: 0.6 nTPM
intermediate monocyte: 0.4 nTPM
memory B-cell: 0.4 nTPM
NK-cell: 0.3 nTPM
total PBMC: 0.3 nTPM

Brain region

cerebellum: 3.4 nTPM
cerebral cortex: 3.1 nTPM
white matter: 3 nTPM
basal ganglia: 2.5 nTPM
pons: 2.5 nTPM
hippocampal formation: 2.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESCO2.

Disease | AllUniProt

Conditions ESCO2 is implicated in, by any mechanism.

Roberts-SC phocomelia syndrome (RBS) MIM:268300
Juberg-Hayward syndrome (JHS) MIM:216100

Disease | GeneticClinVar

155 pathogenic / likely-pathogenic of 774 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome
Inborn genetic diseases
ESCO2-related disorder
Hypercholesterolemia, familial, 1

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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.41
DepMap mean gene effect: -0.33
DepMap dependency class: selective

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ESCO2 as an antibody target. Whether an autoantibody or antibody against ESCO2 could matter depends on whether native ESCO2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ESCO2 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 ESCO2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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