Seroatlas · Human Serome Atlas

BHLHE23

Class E basic helix-loop-helix protein 23

Also known as: bA305P22.3, Beta4, BHE23_HUMAN, BHLHB4

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

Protein identityUniProt · HPA

UniProt accession: Q8NDY6
Gene: BHLHE23
Ensembl: ENSG00000125533
Chromosome: 20
Canonical length: 225 aa
Protein class: Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

225 residues, UniProt reviewed canonical sequence.

>Q8NDY6|BHLHE23
     1  MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP AAPAPRAPAQ
    61  AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS LRLSINARER RRMHDLNDAL
   121  DGLRAVIPYA HSPSVRKLSK IATLLLAKNY ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA
   181  APLTPFGQAT VCPFSAGAAL GPCPDKCAAF SGTPSALCKH CHEKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BHLHE23 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): 0.61
Highest tissue expression: 0.2 nTPM

Expression across tissuesHPA

Tissue

testis: 0.2 nTPM
thymus: 0.2 nTPM
retina: 0.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM

Single-cell type

retinal bipolar cells: 0.1 nCPM
rod photoreceptor cells: 0.1 nCPM
adipocytes: 0 nCPM
adrenal cortex cells: 0 nCPM
adrenal medulla cells: 0 nCPM
alveolar cells type 1: 0 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: 2.7 nTPM
midbrain: 0.6 nTPM
hippocampal formation: 0.3 nTPM
amygdala: 0.2 nTPM
cerebral cortex: 0.2 nTPM
pons: 0.2 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): 1.55
gnomAD pLI: 0.2
gnomAD missense Z: -0.13
DepMap mean gene effect: -0.05
DepMap dependency class: selective

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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BHLHE23 as an antibody target. Whether an autoantibody or antibody against BHLHE23 could matter depends on whether native BHLHE23 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BHLHE23 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 BHLHE23 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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