Seroatlas · Human Serome Atlas

PHF21A

PHD finger protein 21A

Also known as: BHC80, BM-006, KIAA1696, PF21A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96BD5
Gene
PHF21A
Ensembl
ENSG00000135365
Chromosome
11
Canonical length
680 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

Canonical amino-acid sequenceUniProt

680 residues, UniProt reviewed canonical sequence.

>Q96BD5|PHF21A
     1  MELQTLQEAL KVEIQVHQKL VAQMKQDPQN ADLKKQLHEL QAKITALSEK QKRVVEQLRK
    61  NLIVKQEQPD KFQIQPLPQS ENKLQTAQQQ PLQQLQQQQQ YHHHHAQQSA AASPNLTASQ
   121  KTVTTASMIT TKTLPLVLKA ATATMPASVV GQRPTIAMVT AINSQKAVLS TDVQNTPVNL
   181  QTSSKVTGPG AEAVQIVAKN TVTLVQATPP QPIKVPQFIP PPRLTPRPNF LPQVRPKPVA
   241  QNNIPIAPAP PPMLAAPQLI QRPVMLTKFT PTTLPTSQNS IHPVRVVNGQ TATIAKTFPM
   301  AQLTSIVIAT PGTRLAGPQT VQLSKPSLEK QTVKSHTETD EKQTESRTIT PPAAPKPKRE
   361  ENPQKLAFMV SLGLVTHDHL EEIQSKRQER KRRTTANPVY SGAVFEPERK KSAVTYLNST
   421  MHPGTRKRGR PPKYNAVLGF GALTPTSPQS SHPDSPENEK TETTFTFPAP VQPVSLPSPT
   481  STDGDIHEDF CSVCRKSGQL LMCDTCSRVY HLDCLDPPLK TIPKGMWICP RCQDQMLKKE
   541  EAIPWPGTLA IVHSYIAYKA AKEEEKQKLL KWSSDLKQER EQLEQKVKQL SNSISKCMEM
   601  KNTILARQKE MHSSLEKVKQ LIRLIHGIDL SKPVDSEATV GAISNGPDCT PPANAATSTP
   661  APSPSSQSCT ANCNQGEETK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHF21A 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)
0.63
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 22 nTPM
  • ovary: 18 nTPM
  • testis: 17 nTPM
  • blood vessel: 16 nTPM
  • colon: 16 nTPM
  • cerebellum: 15 nTPM

Single-cell type

  • neutrophils: 3,250 nCPM
  • adrenal cortex cells: 486 nCPM
  • neutrophil progenitors: 434 nCPM
  • bergmann glia: 421 nCPM
  • thyrotrophs: 419 nCPM
  • lactotrophs: 396 nCPM

Immune cell

  • neutrophil: 16 nTPM
  • basophil: 16 nTPM
  • classical monocyte: 5.3 nTPM
  • gdT-cell: 4.3 nTPM
  • non-classical monocyte: 3.9 nTPM
  • NK-cell: 3.7 nTPM

Brain region

  • cerebellum: 65 nTPM
  • white matter: 54 nTPM
  • thalamus: 54 nTPM
  • cerebral cortex: 53 nTPM
  • basal ganglia: 53 nTPM
  • amygdala: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHF21A.

Disease | AllUniProt

Conditions PHF21A is implicated in, by any mechanism.

  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) MIM:618725

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 405 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)
0.08
gnomAD pLI
1
gnomAD missense Z
2.86
DepMap mean gene effect
0.04
DepMap dependency class
selective

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 PHF21A 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 PHF21A as an antibody target. Whether an autoantibody or antibody against PHF21A could matter depends on whether native PHF21A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHF21A 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 PHF21A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PHF21A. 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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