Seroatlas · Human Serome Atlas

ZNF408

Zinc finger protein 408

Also known as: FLJ12827, ZN408_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H9D4
Gene: ZNF408
Ensembl: ENSG00000175213
Chromosome: 11
Canonical length: 720 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Centriolar satellite,Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

720 residues, UniProt reviewed canonical sequence.

>Q9H9D4|ZNF408
     1  MEEAEELLLE GKKALQLARE PRLGLDLGWN PSGEGCTQGL KDVPPEPTRD ILALKSLPRG
    61  LALGPSLAKE QRLGVWCVGD PLQPGLLWGP LEEESASKEK GEGVKPRQEE NLSLGPWGDV
   121  CACEQSSGWT SLVQRGRLES EGNVAPVRIS ERLHLQVYQL VLPGSELLLW PQPSSEGPSL
   181  TQPGLDKEAA VAVVTEVESA VQQEVASPGE DAAEPCIDPG SQSPSGIQAE NMVSPGLKFP
   241  TQDRISKDSQ PLGPLLQDGD VDEECPAQAQ MPPELQSNSA TQQDPDGSGA SFSSSARGTQ
   301  PHGYLAKKLH SPSDQCPPRA KTPEPGAQQS GFPTLSRSPP GPAGSSPKQG RRYRCGECGK
   361  AFLQLCHLKK HAFVHTGHKP FLCTECGKSY SSEESFKAHM LGHRGVRPFP CPQCDKAYGT
   421  QRDLKEHQVV HSGARPFACD QCGKAFARRP SLRLHRKTHQ VPAAPAPCPC PVCGRPLANQ
   481  GSLRNHMRLH TGEKPFLCPH CGRAFRQRGN LRGHLRLHTG ERPYRCPHCA DAFPQLPELR
   541  RHLISHTGEA HLCPVCGKAL RDPHTLRAHE RLHSGERPFP CPQCGRAYTL ATKLRRHLKS
   601  HLEDKPYRCP TCGMGYTLPQ SLRRHQLSHR PEAPCSPPSV PSAASEPTVV LLQAEPQLLD
   661  THREEEVSPA RDVVEVTISE SQEKCFVVPE EPDAAPSLVL IHKDMGLGAW AEVVEVEMGT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF408 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): 0.55
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 14 nTPM
liver: 14 nTPM
skeletal muscle: 11 nTPM
skin: 11 nTPM
esophagus: 9.1 nTPM
endometrium: 8 nTPM

Single-cell type

oocytes: 28 nCPM
esophageal apical cells: 26 nCPM
endometrial glandular cells: 18 nCPM
endometrial luminal cells: 13 nCPM
syncytiotrophoblasts: 13 nCPM
early primary spermatocytes: 12 nCPM

Immune cell

memory CD8 T-cell: 10 nTPM
naive CD4 T-cell: 9.2 nTPM
gdT-cell: 8.6 nTPM
intermediate monocyte: 8.3 nTPM
memory CD4 T-cell: 8.3 nTPM
T-reg: 8.1 nTPM

Brain region

cerebellum: 9 nTPM
medulla oblongata: 9 nTPM
basal ganglia: 8.7 nTPM
white matter: 8.6 nTPM
thalamus: 8.4 nTPM
midbrain: 8.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF408.

Disease | AllUniProt

Conditions ZNF408 is implicated in, by any mechanism.

Vitreoretinopathy, exudative 6 (EVR6) MIM:616468
Retinitis pigmentosa 72 (RP72) MIM:616469

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 663 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinal dystrophy
Retinitis pigmentosa 72
Exudative vitreoretinopathy 6
Familial exudative vitreoretinopathy
Autosomal recessive retinitis pigmentosa

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): 0.82
gnomAD pLI: 0
gnomAD missense Z: 0.71
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

regulation of transcription by RNA polymerase II

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZNF408 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 ZNF408 as an antibody target. Whether an autoantibody or antibody against ZNF408 could matter depends on whether native ZNF408 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF408 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 ZNF408 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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