Seroatlas · Human Serome Atlas

POGZ

Pogo transposable element with ZNF domain

Also known as: KIAA0461, POGZ_HUMAN, ZNF280E, ZNF635

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

Protein identityUniProt · HPA

UniProt accession: Q7Z3K3
Gene: POGZ
Ensembl: ENSG00000143442
Chromosome: 1
Canonical length: 1410 aa
Protein class: Disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Basal body,Cytosol

OverviewNCBI Gene

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

1410 residues, UniProt reviewed canonical sequence.

>Q7Z3K3|POGZ
     1  MADTDLFMEC EEEELEPWQK ISDVIEDSVV EDYNSVDKTT TVSVSQQPVS APVPIAAHAS
    61  VAGHLSTSTT VSSSGAQNSD STKKTLVTLI ANNNAGNPLV QQGGQPLILT QNPAPGLGTM
   121  VTQPVLRPVQ VMQNANHVTS SPVASQPIFI TTQGFPVRNV RPVQNAMNQV GIVLNVQQGQ
   181  TVRPITLVPA PGTQFVKPTV GVPQVFSQMT PVRPGSTMPV RPTTNTFTTV IPATLTIRST
   241  VPQSQSQQTK STPSTSTTPT ATQPTSLGQL AVQSPGQSNQ TTNPKLAPSF PSPPAVSIAS
   301  FVTVKRPGVT GENSNEVAKL VNTLNTIPSL GQSPGPVVVS NNSSAHGSQR TSGPESSMKV
   361  TSSIPVFDLQ DGGRKICPRC NAQFRVTEAL RGHMCYCCPE MVEYQKKGKS LDSEPSVPSA
   421  AKPPSPEKTA PVASTPSSTP IPALSPPTKV PEPNENVGDA VQTKLIMLVD DFYYGRDGGK
   481  VAQLTNFPKV ATSFRCPHCT KRLKNNIRFM NHMKHHVELD QQNGEVDGHT ICQHCYRQFS
   541  TPFQLQCHLE NVHSPYESTT KCKICEWAFE SEPLFLQHMK DTHKPGEMPY VCQVCQYRSS
   601  LYSEVDVHFR MIHEDTRHLL CPYCLKVFKN GNAFQQHYMR HQKRNVYHCN KCRLQFLFAK
   661  DKIEHKLQHH KTFRKPKQLE GLKPGTKVTI RASRGQPRTV PVSSNDTPPS ALQEAAPLTS
   721  SMDPLPVFLY PPVQRSIQKR AVRKMSVMGR QTCLECSFEI PDFPNHFPTY VHCSLCRYST
   781  CCSRAYANHM INNHVPRKSP KYLALFKNSV SGIKLACTSC TFVTSVGDAM AKHLVFNPSH
   841  RSSSILPRGL TWIAHSRHGQ TRDRVHDRNV KNMYPPPSFP TNKAATVKSA GATPAEPEEL
   901  LTPLAPALPS PASTATPPPT PTHPQALALP PLATEGAECL NVDDQDEGSP VTQEPELASG
   961  GGGSGGVGKK EQLSVKKLRV VLFALCCNTE QAAEHFRNPQ RRIRRWLRRF QASQGENLEG
  1021  KYLSFEAEEK LAEWVLTQRE QQLPVNEETL FQKATKIGRS LEGGFKISYE WAVRFMLRHH
  1081  LTPHARRAVA HTLPKDVAEN AGLFIDFVQR QIHNQDLPLS MIVAIDEISL FLDTEVLSSD
  1141  DRKENALQTV GTGEPWCDVV LAILADGTVL PTLVFYRGQM DQPANMPDSI LLEAKESGYS
  1201  DDEIMELWST RVWQKHTACQ RSKGMLVMDC HRTHLSEEVL AMLSASSTLP AVVPAGCSSK
  1261  IQPLDVCIKR TVKNFLHKKW KEQAREMADT ACDSDVLLQL VLVWLGEVLG VIGDCPELVQ
  1321  RSFLVASVLP GPDGNINSPT RNADMQEELI ASLEEQLKLS GEHSESSTPR PRSSPEETIE
  1381  PESLHQLFEG ESETESFYGF EEADLDLMEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POGZ 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): 0.48
Highest tissue expression: 84 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 84 nTPM
ovary: 65 nTPM
pituitary gland: 58 nTPM
epididymis: 47 nTPM
thyroid gland: 45 nTPM
fallopian tube: 45 nTPM

Single-cell type

oligodendrocytes: 404 nCPM
podocytes: 403 nCPM
sertoli cells: 375 nCPM
lactotrophs: 367 nCPM
thyrotrophs: 363 nCPM
bergmann glia: 358 nCPM

Immune cell

basophil: 3 nTPM
eosinophil: 2.7 nTPM
memory CD8 T-cell: 2.4 nTPM
memory B-cell: 2.2 nTPM
gdT-cell: 1.9 nTPM
naive B-cell: 1.9 nTPM

Brain region

white matter: 137 nTPM
cerebellum: 118 nTPM
basal ganglia: 99 nTPM
cerebral cortex: 97 nTPM
medulla oblongata: 97 nTPM
pons: 97 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POGZ.

Disease | AllUniProt

Conditions POGZ is implicated in, by any mechanism.

White-Sutton syndrome (WHSUS) MIM:616364

Disease | GeneticClinVar

206 pathogenic / likely-pathogenic of 889 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Inborn genetic diseases
Intellectual disability
POGZ-related disorder
Neurodevelopmental disorder

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.51
DepMap mean gene effect: -0.33
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% 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 POGZ 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 POGZ as an antibody target. Whether an autoantibody or antibody against POGZ could matter depends on whether native POGZ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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