Seroatlas · Human Serome Atlas

ZNF462

Zinc finger protein 462

Also known as: DKFZP762N2316, KIAA1803, Zfp462, ZN462_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96JM2
Gene: ZNF462
Ensembl: ENSG00000148143
Chromosome: 9
Canonical length: 2506 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

2506 residues, UniProt reviewed canonical sequence.

>Q96JM2|ZNF462
     1  MEVLQCDGCD FRAPSYEDLK AHIQDVHTAF LQPTDVAEDN VNELRCGSVN ASNQTEVEFS
    61  SIKDEFAIAE DLSGQNATSL GTGGYYGHSP GYYGQHIAAN PKPTNKFFQC KFCVRYFRSK
   121  NLLIEHTRKV HGAQAEGSSS GPPVPGSLNY NIMMHEGFGK VFSCQFCTYK SPRRARIIKH
   181  QKMYHKNNLK ETTAPPPAPA PMPDPVVPPV SLQDPCKELP AEVVERSILE SMVKPLTKSR
   241  GNFCCEWCSY QTPRRERWCD HMMKKHRSMV KILSSLRQQQ EGTNLPDVPN KSAPSPTSNS
   301  TYLTMNAASR EIPNTTVSNF RGSMGNSIMR PNSSASKFSP MSYPQMKPKS PHNSGLVNLT
   361  ERSRYGMTDM TNSSADLETN SMLNDSSSDE ELNEIDSENG LSAMDHQTSG LSAEQLMGSD
   421  GNKLLETKGI PFRRFMNRFQ CPFCPFLTMH RRSISRHIEN IHLSGKTAVY KCDECPFTCK
   481  SSLKLGAHKQ CHTGTTSDWD AVNSQSESIS SSLNEGVVSY ESSSINGRKS GVMLDPLQQQ
   541  QPPQPPPPPP PPPPSQPQPL QQPQPPQLQP PHQVPPQPQT QPPPTQQPQP PTQAAPLHPY
   601  KCTMCNYSTT TLKGLRVHQQ HKHSFCDNLP KFEGQPSSLP LENETDSHPS SSNTVKKSQT
   661  SILGLSSKNN FVAKASRKLA NDFPLDLSPV KKRTRIDEIA SNLQSKINQT KQQEDAVINV
   721  EDDEEEEEDN EVEIEVELDR EEEPTEPIIE VPTSFSAQQI WVRDTSEPQK EPNFRNITHD
   781  YNATNGAEIE LTLSEDEEDY YGSSTNLKDH QVSNTALLNT QTPIYGTEHN SENTDFGDSG
   841  RLYYCKHCDF NNKSARSVST HYQRMHPYIK FSFRYILDPN DHSAVYRCLE CYIDYTNFED
   901  LQQHYGEHHP EAMNVLNFDH SDLIYRCRFC SYTSPNVRSL MPHYQRMHPT VKINNAMIFS
   961  SYVVEQQEGL NTESQTLREI LNSAPKNMAT STPVARGGGL PATFNKNTPK TFTPECENQK
  1021  DPLVNTVVVY DCDVCSFASP NMHSVLVHYQ KKHPEEKASY FRIQKTMRMV SVDRGSALSQ
  1081  LSFEVGAPMS PKMSNMGSPP PPQPPPPDLS TELYYCKHCS YSNRSVVGVL VHYQKRHPEI
  1141  KVTAKYIRQA PPTAAMMRGV EGPQGSPRPP APIQQLNRSS SERDGPPVEN EMFFCQHCDY
  1201  GNRTVKGVLI HYQKKHRDFK ANADVIRQHT ATIRSLCDRN QKKPASCVLV SPSNLERDKT
  1261  KLRALKCRQC SYTSPYFYAL RKHIKKDHPA LKATVTSIMR WAFLDGLIEA GYHCEWCIYS
  1321  HTEPNGLLLH YQRRHPEHYV DYTYMATKLW AGPDPSPPSL TMPAEAKTYR CRDCVFEAVS
  1381  IWDITNHYQA FHPWAMNGDE SVLLDIIKEK DAVEKPILSS EELAGPVNCE NSIPTPFPEQ
  1441  EAECPEDARL SPEKSLQLAS ANPAISSTPY QCTVCQSEYN NLHGLLTHYG KKHPGMKVKA
  1501  ADFAQDIDIN PGAVYKCRHC PYINTRIHGV LTHYQKRHPS IKVTAEDFVH DVEQSADISQ
  1561  NDVEETSRIF KQGYGAYRCK LCPYTHGTLE KLKIHYEKYH NQPEFDVFSQ SPPKLPVPLE
  1621  PEMTTEVSPS QVSITEEEVG EEPVSTSHFS TSHLVSHTVF RCQLCKYFCS TRKGIARHYR
  1681  IKHNNVRAQP EGKNNLFKCA LCAYTNPIRK GLAAHYQKRH DIDAYYTHCL AASRTISDKP
  1741  NKVIIPSPPK DDSPQLSEEL RRAVEKKKCS LCSFQSFSKK GIVSHYMKRH PGVFPKKQHA
  1801  SKLGGYFTAV YADEHEKPTL MEEEERGNFE KAEVEGEAQE IEWLPFRCIK CFKLSFSTAE
  1861  LLCMHYTDHH SRDLKRDFII LGNGPRLQNS TYQCKHCDSK LQSTAELTSH LNIHNEEFQK
  1921  RAKRQERRKQ LLSKQKYADG AFADFKQERP FGHLEEVPKI KERKVVGYKC KFCVEVHPTL
  1981  RAICNHLRKH VQYGNVPAVS AAVKGLRSHE RSHLALAMFT REDKYSCQYC SFVSAFRHNL
  2041  DRHMQTHHGH HKPFRCKLCS FKSSYNSRLK THILKAHAGE HAYKCSWCSF STMTISQLKE
  2101  HSLKVHGKAL TLPRPRIVSL LSSHSHHSSQ KATPAEEVED SNDSSYSEPP DVQQQLNHYQ
  2161  SAALARNNSR VSPVPLSGAA AGTEQKTEAV LHCEFCEFSS GYIQSIRRHY RDKHGGKKLF
  2221  KCKDCSFYTG FKSAFTMHVE AGHSAVPEEG PKDLRCPLCL YHTKYKRNMI DHIVLHREER
  2281  VVPIEVCRSK LSKYLQGVVF RCDKCTFTCS SDESLQQHIE KHNELKPYKC QLCYYETKHT
  2341  EELDSHLRDE HKVSRNFELV GRVNLDQLEQ MKEKMESSSS DDEDKEEEMN SKAEDRELMR
  2401  FSDHGAALNT EKRFPCEFCG RAFSQGSEWE RHVLRHGMAL NDTKQVSREE IHPKEIMENS
  2461  VKMPSIEEKE DDEAIGIDFS LKNETVAICV VTADKSLLEN AEAKKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF462 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): 0.45
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 11 nTPM
adrenal gland: 8.1 nTPM
retina: 7.6 nTPM
esophagus: 7.4 nTPM
salivary gland: 7.4 nTPM
ovary: 7.1 nTPM

Single-cell type

oligodendrocyte progenitor cells: 730 nCPM
bergmann glia: 321 nCPM
pituitary stem cells: 297 nCPM
adrenal cortex cells: 277 nCPM
podocytes: 255 nCPM
oligodendrocytes: 231 nCPM

Immune cell

basophil: 0.2 nTPM
naive CD4 T-cell: 0.2 nTPM
NK-cell: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
classical monocyte: 0 nTPM

Brain region

pons: 66 nTPM
midbrain: 62 nTPM
basal ganglia: 61 nTPM
hypothalamus: 61 nTPM
thalamus: 60 nTPM
medulla oblongata: 59 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF462.

Disease | AllUniProt

Conditions ZNF462 is implicated in, by any mechanism.

Weiss-Kruszka syndrome (WSKA) MIM:618619

Disease | GeneticClinVar

84 pathogenic / likely-pathogenic of 764 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Weiss-Kruszka syndrome
Inborn genetic diseases
ZNF462-related disorder
Craniosynostosis syndrome
Intellectual disability, autosomal dominant

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): 0.09
gnomAD pLI: 1
gnomAD missense Z: 3.35
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

Zinc finger C2H2-type
Zinc finger C2H2 superfamily
Zinc finger and ubiquitin peptidase domain-containing protein
ZNF462, N-terminal C2H2 zinc finger
ZNF462, C2H2 zinc finger 1
ZNF462, C2H2 zinc finger 2
Zinc finger protein 462, C2H2 zinc finger
Zinc finger protein 462-like, seventh C2H2 zinc finger
Zinc finger protein 462, C2H2 zinc finger
Zinc finger protein 462, first C2H2 zinc finger
Zinc finger protein 462, C2H2 zinc finger
Zinc finger protein 462, second C2H2 zinc finger
Zinc finger protein 462, seventh C2H2 zinc finger

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZNF462 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 ZNF462 as an antibody target. Whether an autoantibody or antibody against ZNF462 could matter depends on whether native ZNF462 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF462 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 ZNF462 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...