Seroatlas · Human Serome Atlas

ESRRB

Steroid hormone receptor ERR2

Also known as: DFNB35, ERR2, ERR2_HUMAN, ERRb, ERRbeta, ESRL2, NR3B2

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

Protein identityUniProt · HPA

UniProt accession
O95718
Gene
ESRRB
Ensembl
ENSG00000119715
Chromosome
14
Canonical length
433 aa
Protein class
Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

433 residues, UniProt reviewed canonical sequence.

>O95718|ESRRB
     1  MSSDDRHLGS SCGSFIKTEP SSPSSGIDAL SHHSPSGSSD ASGGFGLALG THANGLDSPP
    61  MFAGAGLGGT PCRKSYEDCA SGIMEDSAIK CEYMLNAIPK RLCLVCGDIA SGYHYGVASC
   121  EACKAFFKRT IQGNIEYSCP ATNECEITKR RRKSCQACRF MKCLKVGMLK EGVRLDRVRG
   181  GRQKYKRRLD SESSPYLSLQ ISPPAKKPLT KIVSYLLVAE PDKLYAMPPP GMPEGDIKAL
   241  TTLCDLADRE LVVIIGWAKH IPGFSSLSLG DQMSLLQSAW MEILILGIVY RSLPYDDKLV
   301  YAEDYIMDEE HSRLAGLLEL YRAILQLVRR YKKLKVEKEE FVTLKALALA NSDSMYIEDL
   361  EAVQKLQDLL HEALQDYELS QRHEEPWRTG KLLLTLPLLR QTAAKAVQHF YSVKLQGKVP
   421  MHKLFLEMLE AKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESRRB 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)
0.4
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • retina: 34 nTPM
  • kidney: 15 nTPM
  • skeletal muscle: 6.1 nTPM
  • heart muscle: 4.6 nTPM
  • stomach: 3.7 nTPM
  • testis: 1.8 nTPM

Single-cell type

  • rod photoreceptor cells: 838 nCPM
  • loop of henle epithelial cells: 497 nCPM
  • distal convoluted tubule cells: 461 nCPM
  • retinal horizontal cells: 453 nCPM
  • myonuclei: 261 nCPM
  • late spermatids: 98 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 3.8 nTPM
  • midbrain: 3.3 nTPM
  • choroid plexus: 3.2 nTPM
  • thalamus: 2.5 nTPM
  • white matter: 2.3 nTPM
  • pons: 2.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESRRB.

Disease | AllUniProt

Conditions ESRRB is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 35 (DFNB35) MIM:608565

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 327 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.52
gnomAD pLI
0.13
gnomAD missense Z
1.56
DepMap mean gene effect
0.05
DepMap dependency class
none

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

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

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