Seroatlas · Human Serome Atlas

ESS2

Splicing factor ESS-2 homolog

Also known as: bis1, DGCR13, DGCR14, DGS-H, DGSI, ES2, Es2el, ESS-2, ESS2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96DF8
Gene
ESS2
Ensembl
ENSG00000100056
Chromosome
22
Canonical length
476 aa
Protein class
Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>Q96DF8|ESS2
     1  METPGASASS LLLPAASRPP RKREAGEAGA ATSKQRVLDE EEYIEGLQTV IQRDFFPDVE
    61  KLQAQKEYLE AEENGDLERM RQIAIKFGSA LGKMSREPPP PYVTPATFET PEVHAGTGVV
   121  GNKPRPRGRG LEDGEAGEEE EKEPLPSLDV FLSRYTSEDN ASFQEIMEVA KERSRARHAW
   181  LYQAEEEFEK RQKDNLELPS AEHQAIESSQ ASVETWKYKA KNSLMYYPEG VPDEEQLFKK
   241  PRQVVHKNTR FLRDPFSQAL SRCQLQQAAA LNAQHKQGKV GPDGKELIPQ ESPRVGGFGF
   301  VATPSPAPGV NESPMMTWGE VENTPLRVEG SETPYVDRTP GPAFKILEPG RRERLGLKMA
   361  NEAAAKNRAK KQEALRRVTE NLASLTPKGL SPAMSPALQR LVSRTASKYT DRALRASYTP
   421  SPARSTHLKT PASGLQTPTS TPAPGSATRT PLTQDPASIT DNLLQLPARR KASDFF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESS2 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
4.7 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 4.7 nTPM
  • testis: 3.4 nTPM
  • blood vessel: 2.2 nTPM
  • colon: 2.1 nTPM
  • urinary bladder: 1.9 nTPM
  • cerebral cortex: 1.8 nTPM

Single-cell type

  • late spermatids: 3,408 nCPM
  • early spermatids: 775 nCPM
  • late primary spermatocytes: 47 nCPM
  • oocytes: 46 nCPM
  • early primary spermatocytes: 24 nCPM
  • differentiating spermatogonia: 23 nCPM

Immune cell

  • NK-cell: 0.4 nTPM
  • eosinophil: 0.3 nTPM
  • naive CD8 T-cell: 0.2 nTPM
  • plasmacytoid DC: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • gdT-cell: 0.1 nTPM

Brain region

  • cerebellum: 7.7 nTPM
  • pons: 4.4 nTPM
  • white matter: 4.4 nTPM
  • cerebral cortex: 4.3 nTPM
  • basal ganglia: 4.1 nTPM
  • midbrain: 4 nTPM

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)
0.96
gnomAD pLI
0
DepMap mean gene effect
-1
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Nuclear protein DGCR14/ESS-2
  • Nuclear protein Es2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ESS2 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 ESS2 as an antibody target. Whether an autoantibody or antibody against ESS2 could matter depends on whether native ESS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ESS2 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 ESS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ESS2. 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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