Seroatlas · Human Serome Atlas

ZNF469

Zinc finger protein 469

Also known as: KIAA1858, Zfp469, ZN469_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96JG9
Gene: ZNF469
Ensembl: ENSG00000225614
Chromosome: 16
Canonical length: 3953 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cell Junctions

OverviewNCBI Gene

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

3953 residues, UniProt reviewed canonical sequence.

>Q96JG9|ZNF469
     1  MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE AGGQAQAMEL
    61  PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS PLQAPSRLAG RAEGSPPQRY
   121  ILGIASSRTK PTLDETPENP QLEAAQLPEV DTPQGPGTGA PLRPGLPRTE AQPAAEELGF
   181  HRCFQEPPSS FTSTNYTSPS ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE
   241  NSFPGANFGV PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG
   301  PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD LSGALSSPGA
   361  AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS LPQRHFPGQA YRASGVDTSP
   421  GPPDTELAAP GPPPARLPQL WDPTAAPYPT PPGGPLAATR SMFFNGQPSP GQRLCLPQSA
   481  PLPWPQVLPT ARPSPHGMEM LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS
   541  QGGSPALFTY NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT
   601  AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS PEPPHSLPTH
   661  YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG GLQGFPRAPP PYPTHHFSLS
   721  SASLDQLDVL LTCRQCDRNY SSLAAFLAHR QFCGLLLARA KDGHQRSPGP PGLPSPPAAP
   781  RVPADAHAGL LSHAKTFLLA GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL
   841  DSLITEALNG MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP
   901  LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ LKLFRKDLDS
   961  GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ APGSRADPAP RVPRAAALPE
  1021  ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL ILKIVQQKNR RHRRLGRRAG RCGSLAAGRP
  1081  RPGAEDRRLR EYDFASESEE DEQPPPRGPG FRGRRGRGEK RKEVELTQGP REDEPQKPRK
  1141  AARQEAGGDG APANPEEPGG SRPGPGRSPQ ARGPSRSLET GAAAREGGPK CADRPSVAPK
  1201  DPLQVPTNTE TSEETRPSLD FPQEAKEPET AEESAPDSTE FTEALRSPPA ACAGEMGASP
  1261  GLLIPEQPPP SRHDTGTPKP SGSLANTAPH GSSPTPGVGS LLGGPGGTQA PVSHNSKDPP
  1321  ARQPGEFLAP VANPSSTACP KPSVLSSKIS SFGCDPAGFN RDPLGVPVAK KGPQPYSSPH
  1381  SELFLGPKDL AGCFLEELHP KPSARDAPPA SSSCLCQDGE DAGSLEPQLP RSPPGTAETE
  1441  PGRAASPPTL ESSSLFPDLP VDRFDPPLYG SLSANRDSGL PFACADPPQK TVPSDPPYPS
  1501  FLLLEEVSPM LPSHFPDLSG GKVLSKTCPP ERTVVPGAAP SLPGKGSGCS VALMSHLSED
  1561  ELEIQKLVTE LESQLQRSKD TRGAPRELAE AESVGRVELG TGTEPPSQRR TCQATVPHED
  1621  TFSAADLTRV GESTAHREGA ESAVATVEAV QGRPGGTWPC PASFHPGHAA LLPCAQEDLV
  1681  SGAPFSPRGA NFHFQPVQKA GASKTGLCQA EGDSRPPQDV CLPEPSKQPG PQLDAGSLAK
  1741  CSPDQELSFP KNKEAASSQE SEDSLRLLPC EQRGGFLPEP GTADQPHRGA PAPEAFGSPA
  1801  VHLAPDLAFQ GDGAPPLDAT WPFGASPSHA AQGHSAGRAG GHLHPTAGRP GFEGNEFAPA
  1861  GASSLTAPRG REAWLVPVPS PACVSNTHPS RRSQDPALSP PIRQLQLPGP GVAKSKDGIL
  1921  GLQELTPAAQ SPPRVNPSGL EGGTVEGGKV ACGPAQGSPG GVQVTTLPAV AGHQLGLEAD
  1981  GHWGLLGQAE KTQGQGTANQ LQPENGVSPG GTDNHASVNA SPKTALTGPT EGAVLLEKCK
  2041  GSRAAMSLQE EAEPTPSPPS PNRESLALAL TAAHSRSGSE GRTPERASSP GLNKPLLATG
  2101  DSPAPSVGDL AACAPSPTSA AHMPCSLGPL PREDPLTSPS RAQGGLGGQL PASPSCRDPP
  2161  GPQQLLACSP AWAPLEEADG VQATTDTGAE DSPVAPPSLT TSPCDPKEAL AGCLLQGEGS
  2221  PLEDPSSWPP GSVSAVTCTH SGDTPKDSTL RIPEDSRKEK LWESPGRATS PPLAGAVSPS
  2281  VAVRATGLSS TPTGDEAQAG RGLPGPDPQS RGAPPHTNPD RMPRGHSSYS PSNTARLGHR
  2341  EGQAVTAVPT EPPTLQGAGP DSPACLEGEM GTSSKEPEDP GTPETGRSGA TKMPRVTCPS
  2401  TGLGLGRTTA PSSTASDFQS DSPQSHRNAS HQTPQGDPLG PQDLKQRSRG YKKKPASTEN
  2461  GQWKGQAPHG PVTCEVCAAS FRSGPGLSRH KARKHRPHPG APAEPSPAAL PAQQPLEPLA
  2521  QKCQPPRKKS HRVSGKERPN HSRGDPSHVT QPPPAQGSKE VLRAPGSPHS QQLHPPSPTE
  2581  HEVDVKTPAS KPRPDQARED ELHPKQAEKR EGRRWRREPT VDSPSHSEGK SNKKRGKLRG
  2641  RRLREESILP VSADVISDGR GSRPSPAMAS YAASPSHCLS VEGGPEADGE QPPRLATLGP
  2701  GVMEGAAETD QEALCAGETG AQKPPGDRML CPGRMDGAAL GEQPTGQKGA SARGFWGPRE
  2761  TKALGVCKES GSEPAEDSSR AHSRSEEGVW EENTPPLGPL GFPETSSSPA DSTTSSCLQG
  2821  LPDNPDTQGG VQGPEGPTPD ASGSSAKDPP SLFDDEVSFS QLFPPGGRLT RKRNPHVYGK
  2881  RCEKPVLPLP TQPSFEEGGD PTLGPARLPT DLSDSSSLCL CHEDPWEDED PAGLPESFLL
  2941  DGFLNSRVPG IDPWAPGLSL WALEPSREAG AEKLPSHCPE DDRPEAIPEL HMVPAAWRGL
  3001  EMPAPADDSS SSLGDVSPEP PSLERERCDG GLPGNTHLLP LRATDFEVLS TKFEMQDLCF
  3061  LGPFEDPVGL PGPSFLDFEG TASSQGPQSR RTEEAAGAGR AQGRGRPAKG RRASYKCKVC
  3121  FQRFRSLGEL DLHKLAHTPA PPPTCYMCVE RRFGSRELLR GHLQERHAQS KAGPWACGMC
  3181  LKEVADVWMY NEHLREHAVR FARRGQARRS LGDLPGGLEG SSAVAHLLNS ITEPAPKHHR
  3241  GKRSAGKAAG SPGDPWGQEG EAKKDSPGER AKPRARSTPS NPDGAATPDS ASATALADAG
  3301  SPGPPRTTPS PSPDPWAGGE PLLQATPVHE ACKDPSRDCH HCGKRFPKPF KLQRHLAVHS
  3361  PQRVYLCPRC PRVYPEHGEL LAHLGGAHGL LERPELQHTP LYACELCATV MRIIKKSFAC
  3421  SSCNYTFAKK EQFDRHMNKH LRGGRQPFAF RGVRRPGAPG QKARALEGTL PSKRRRVAMP
  3481  GSAPGPGEDR PPPRGSSPIL SEGSLPALLH LCSEVAPSTT KGWPETLERP VDPVTHPIRG
  3541  CELPSNHQEC PPPSLSPFPA ALADGRGDCA LDGALERPEN EASPGSPGPL LQQALPLGAS
  3601  LPRPGARGQD AEGKRAPLVF SGKRRAPGAR GRCAPDHFQE DHLLQKEKEV SSSHMVSEGG
  3661  PRGAFHKGSA TKPAGCQSSS KDRSAASTPS KALKFPVHPR KAVGSLAPGE LARGTENGMK
  3721  PATPKAKPGP SSQGSGSPRP GTKTGGGSQP QPASGQLQSE TATTPAKPSF PSRSPAPERL
  3781  PARAQAKSCT KGPREAGEQG PHGSLGPKEK GESSTKRKKG QVPGPARSES VGSFGRAPSA
  3841  PDKPPRTPRK QATPSRVLPT KPKPNSQNKP RPPPSEQRKA EPGHTQRKDR LGKAFPQGRP
  3901  LLRPPKRGTA VHGAEPAEPH THRTAEAQSD LLSQLFGQRL TGFKIPLKKD ASE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF469 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
Highest tissue expression: 2.1 nTPM

Expression across tissuesHPA

Tissue

ovary: 2.1 nTPM
hippocampal formation: 1.4 nTPM
amygdala: 1.3 nTPM
cerebral cortex: 1.3 nTPM
cervix: 1.3 nTPM
endometrium: 1.3 nTPM

Single-cell type

oligodendrocyte progenitor cells: 27 nCPM
oligodendrocytes: 20 nCPM
microglia: 8.9 nCPM
cdc: 8.5 nCPM
macrophages: 8.2 nCPM
hofbauer cells: 7.3 nCPM

Immune cell

plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

hippocampal formation: 13 nTPM
amygdala: 12 nTPM
medulla oblongata: 10 nTPM
cerebral cortex: 9.5 nTPM
midbrain: 9.1 nTPM
pons: 8.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF469.

Disease | AllUniProt

Conditions ZNF469 is implicated in, by any mechanism.

Brittle cornea syndrome 1 (BCS1) MIM:229200

Disease | GeneticClinVar

201 pathogenic / likely-pathogenic of 5,293 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): 0.37
gnomAD pLI: 0.72
gnomAD missense Z: 0.77
DepMap mean gene effect: -0.01
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

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZNF469 as an antibody target. Whether an autoantibody or antibody against ZNF469 could matter depends on whether native ZNF469 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF469 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 ZNF469 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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