Seroatlas · Human Serome Atlas

PHF6

PHD finger protein 6

Also known as: BFLS, BORJ, CENP-31, KIAA1823, MGC14797, PHF6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8IWS0
Gene
PHF6
Ensembl
ENSG00000156531
Chromosome
X
Canonical length
365 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli

OverviewNCBI Gene

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

365 residues, UniProt reviewed canonical sequence.

>Q8IWS0|PHF6
     1  MSSSVEQKKG PTRQRKCGFC KSNRDKECGQ LLISENQKVA AHHKCMLFSS ALVSSHSDNE
    61  SLGGFSIEDV QKEIKRGTKL MCSLCHCPGA TIGCDVKTCH RTYHYHCALH DKAQIREKPS
   121  QGIYMVYCRK HKKTAHNSEA DLEESFNEHE LEPSSPKSKK KSRKGRPRKT NFKGLSEDTR
   181  STSSHGTDEM ESSSYRDRSP HRSSPSDTRP KCGFCHVGEE ENEARGKLHI FNAKKAAAHY
   241  KCMLFSSGTV QLTTTSRAEF GDFDIKTVLQ EIKRGKRMKC TLCSQPGATI GCEIKACVKT
   301  YHYHCGVQDK AKYIENMSRG IYKLYCKNHS GNDERDEEDE ERESKSRGKV EIDQQQLTQQ
   361  QLNGN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHF6 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)
0.42
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 31 nTPM
  • tonsil: 28 nTPM
  • ovary: 25 nTPM
  • lymph node: 24 nTPM
  • thymus: 19 nTPM
  • adrenal gland: 17 nTPM

Single-cell type

  • granulosa cells: 133 nCPM
  • erythrocyte progenitors: 123 nCPM
  • megakaryocyte-erythroid progenitors: 118 nCPM
  • epididymal principal cells: 113 nCPM
  • adrenal cortex cells: 112 nCPM
  • epididymal basal cells: 72 nCPM

Immune cell

  • memory B-cell: 19 nTPM
  • naive B-cell: 13 nTPM
  • plasmacytoid DC: 12 nTPM
  • NK-cell: 11 nTPM
  • myeloid DC: 9.7 nTPM
  • naive CD4 T-cell: 9.7 nTPM

Brain region

  • white matter: 28 nTPM
  • cerebellum: 27 nTPM
  • spinal cord: 23 nTPM
  • medulla oblongata: 23 nTPM
  • pons: 22 nTPM
  • hypothalamus: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHF6.

Disease | AllUniProt

Conditions PHF6 is implicated in, by any mechanism.

  • Boerjeson-Forssman-Lehmann syndrome (BFLS) MIM:301900

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 355 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)
0.17
gnomAD pLI
1
gnomAD missense Z
2.28
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 PHF6 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 PHF6 as an antibody target. Whether an autoantibody or antibody against PHF6 could matter depends on whether native PHF6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PHF6 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 PHF6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PHF6. 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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