Seroatlas · Human Serome Atlas

PRDM8

PR domain zinc finger protein 8

Also known as: KMT8D, PRDM8_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NQV8
Gene
PRDM8
Ensembl
ENSG00000152784
Chromosome
4
Canonical length
689 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

689 residues, UniProt reviewed canonical sequence.

>Q9NQV8|PRDM8
     1  MEDTGIQRGI WDGDAKAVQQ CLTDIFTSVY TTCDIPENAI FGPCVLSHTS LYDSIAFIAL
    61  KSTDKRTVPY IFRVDTSAAN GSSEGLMWLR LVQSARDKEE QNLEAYIKNG QLFYRSLRRI
   121  AKDEELLVWY GKELTELLLL CPSRSHNKMN GSSPYTCLEC SQRFQFEFPY VAHLRFRCPK
   181  RLHSADISPQ DEQGGGVGTK DHGGGGGGGK DQQQQQQEAP LGPGPKFCKA GPLHHYPSPS
   241  PESSNPSAAA GGSSAKPSTD FHNLARELEN SRGGSSCSPA QSLSSGSGSG GGGGHQEAEL
   301  SPDGIATGGG KGKRKFPEEA AEGGGGAGLV GGRGRFVERP LPASKEDLVC TPQQYRASGS
   361  YFGLEENGRL FAPPSPETGE AKRSAFVEVK KAARAASLQE EGTADGAGVA SEDQDAGGGG
   421  GSSTPAAASP VGAEKLLAPR PGGPLPSRLE GGSPARGSAF TSVPQLGSAG STSGGGGTGA
   481  GAAGGAGGGQ GAASDERKSA FSQPARSFSQ LSPLVLGQKL GALEPCHPAD GVGPTRLYPA
   541  AADPLAVKLQ GAADLNGGCG SLPSGGGGLP KQSPFLYATA FWPKSSAAAA AAAAAAAAGP
   601  LQLQLPSALT LLPPSFTSLC LPAQNWCAKC NASFRMTSDL VYHMRSHHKK EYAMEPLVKR
   661  RREEKLKCPI CNESFRERHH LSRHMTSHN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRDM8 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)
0.6
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • seminal vesicle: 26 nTPM
  • prostate: 25 nTPM
  • retina: 22 nTPM
  • cerebral cortex: 18 nTPM
  • hippocampal formation: 14 nTPM
  • colon: 11 nTPM

Single-cell type

  • retinal bipolar cells: 285 nCPM
  • retinal amacrine cells: 55 nCPM
  • neutrophils: 53 nCPM
  • prostatic glandular cells: 41 nCPM
  • mast cells: 28 nCPM
  • oligodendrocytes: 24 nCPM

Immune cell

  • naive B-cell: 0.7 nTPM
  • MAIT T-cell: 0.6 nTPM
  • memory CD4 T-cell: 0.5 nTPM
  • memory CD8 T-cell: 0.5 nTPM
  • neutrophil: 0.5 nTPM
  • gdT-cell: 0.4 nTPM

Brain region

  • cerebral cortex: 59 nTPM
  • hippocampal formation: 53 nTPM
  • white matter: 31 nTPM
  • amygdala: 30 nTPM
  • basal ganglia: 23 nTPM
  • pons: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRDM8.

Disease | AllUniProt

Conditions PRDM8 is implicated in, by any mechanism.

  • Epilepsy, progressive myoclonic 10 (EPM10) MIM:616640

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 511 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Early-onset Lafora body disease

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)
0.43
gnomAD pLI
0.78
gnomAD missense Z
0.02
DepMap mean gene effect
0.02
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 PRDM8 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 PRDM8 as an antibody target. Whether an autoantibody or antibody against PRDM8 could matter depends on whether native PRDM8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRDM8 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 PRDM8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRDM8. 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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