Seroatlas · Human Serome Atlas

ZFHX2

Zinc finger homeobox protein 2

Also known as: KIAA1056, KIAA1762, ZFH-5, ZFHX2_HUMAN, ZNF409

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

Protein identityUniProt · HPA

UniProt accession: Q9C0A1
Gene: ZFHX2
Ensembl: ENSG00000136367
Chromosome: 14
Canonical length: 2572 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of sensory perception of pain. Located in nucleus. Implicated in Marsili syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

2572 residues, UniProt reviewed canonical sequence.

>Q9C0A1|ZFHX2
     1  MATLNSASTT GTTPSPGHNA PSLPSDTFSS STPSDPVTKD PPAASSTSEN MRSSEPGGQL
    61  LESGCGLVPP KEIGEPQEGP DCGHFPPNDP GVEKDKEQEE EEEGLPPMDL SNHLFFTAGG
   121  EAYLVAKLSL PGGSELLLPK GFPWGEAGIK EEPSLPFLAY PPPSHLTALH IQHGFDPIQG
   181  FSSSDQILSH DTSAPSPAAC EERHGAFWSY QLAPNPPGDP KDGPMGNSGG NHVAVFWLCL
   241  LCRLGFSKPQ AFMDHTQSHG VKLTPAQYQG LSGSPAVLQE GDEGCKALIS FLEPKLPARP
   301  SSDIPLDNSS TVNMEANVAQ TEDGPPEAEV QALILLDEEV MALSPPSPPT ATWDPSPTQA
   361  KESPVAAGEA GPDWFPEGQE EDGGLCPPLN QSSPTSKEGG TLPAPVGSPE DPSDPPQPYR
   421  LADDYTPAPA AFQGLSLSSH MSLLHSRNSC KTLKCPKCNW HYKYQQTLDV HMREKHPESN
   481  SHCSYCSAGG AHPRLARGES YNCGYKPYRC DVCNYSTTTK GNLSIHMQSD KHLANLQGFQ
   541  AGPGGQGSPP EASLPPSAGD KEPKTKSSWQ CKVCSYETNI SRNLRIHMTS EKHMQNVLML
   601  HQGLPLGLPP GLMGPGPPPP PGATPTSPPE LFQYFGPQAL GQPQTPLAGP GLRPDKPLEA
   661  QLLLNGFHHV GAPARKFPTS APGSLSPDAH LPPSQLLGSS SDSLPTSPPP DDSLSLKVFR
   721  CLVCQAFSTD SLELLLYHCS IGRSLPEAEW KEVAGDTHRC KLCCYGTQLK ANFQLHLKTD
   781  KHAQKYQLAA HLREGGGAMG TPSPASLGDG APYGSVSPLH LRCNICDFES NSKEKMQLHA
   841  RGAAHEENSQ IYKFLLDMEG AEAGAELGLY HCLLCAWETP SRLAVLQHLR TPAHRDAQAQ
   901  RRLQLLQNGP TTEEGLAALQ SILSFSHGQL RTPGKAPVTP LAEPPTPEKD AQNKTEQLAS
   961  EETENKTGPS RDSANQTTVY CCPYCSFLSP ESSQVRAHTL SQHAVQPKYR CPLCQEQLVG
  1021  RPALHFHLSH LHNVVPECVE KLLLVATTVE MTFTTKVLSA PTLSPLDNGQ EPPTHGPEPT
  1081  PSRDQAAEGP NLTPEASPDP LPEPPLASVE VPDKPSGSPG QPPSPAPSPV PEPDAQAEDV
  1141  APPPTMAEEE EGTTGELRSA EPAPADSRHP LTYRKTTNFA LDKFLDPARP YKCTVCKESF
  1201  TQKNILLVHY NSVSHLHKMK KAAIDPSAPA RGEAGAPPTT TAATDKPFKC TVCRVSYNQS
  1261  STLEIHMRSV LHQTRSRGTK TDSKIEGPER SQEEPKEGET EGEVGTEKKG PDTSGFISGL
  1321  PFLSPPPPPL DLHRFPAPLF TPPVLPPFPL VPESLLKLQQ QQLLLPFYLH DLKVGPKLTL
  1381  AGPAPVLSLP AATPPPPPQP PKAELAEREW ERPPMAKEGN EAGPSSPPDP LPNEAARTAA
  1441  KALLENFGFE LVIQYNEGKQ AVPPPPTPPP PEALGGGDKL ACGACGKLFS NMLILKTHEE
  1501  HVHRRFLPFE ALSRYAAQFR KSYDSLYPPL AEPPKPPDGS LDSPVPHLGP PFLVPEPEAG
  1561  GTRAPEERSR AGGHWPIEEE ESSRGNLPPL VPAGRRFSRT KFTEFQTQAL QSFFETSAYP
  1621  KDGEVERLAS LLGLASRVVV VWFQNARQKA RKNACEGGSM PTGGGTGGAS GCRRCHATFS
  1681  CVFELVRHLK KCYDDQTLEE EEEEAERGEE EEEVEEEEVE EEQGLEPPAG PEGPLPEPPD
  1741  GEELSQAEAT KAGGKEPEEK ATPSPSPAHT CDQCAISFSS QDLLTSHRRL HFLPSLQPSA
  1801  PPQLLDLPLL VFGERNPLVA ATSPMPGPPL KRKHEDGSLS PTGSEAGGGG EGEPPRDKRL
  1861  RTTILPEQLE ILYRWYMQDS NPTRKMLDCI SEEVGLKKRV VQVWFQNTRA RERKGQFRST
  1921  PGGVPSPAVK PPATATPASL PKFNLLLGKV DDGTGREAPK REAPAFPYPT ATLASGPQPF
  1981  LPPGKEATTP TPEPPLPLLP PPPPSEEEGP EEPPKASPES EACSLSAGDL SDSSASSLAE
  2041  PESPGAGGTS GGPGGGTGVP DGMGQRRYRT QMSSLQLKIM KACYEAYRTP TMQECEVLGE
  2101  EIGLPKRVIQ VWFQNARAKE KKAKLQGTAA GSTGGSSEGL LAAQRTDCPY CDVKYDFYVS
  2161  CRGHLFSRQH LAKLKEAVRA QLKSESKCYD LAPAPEAPPA LKAPPATTPA SMPLGAAPTL
  2221  PRLAPVLLSG PALAQPPLGN LAPFNSGPAA SSGLLGLATS VLPTTTVVQT AGPGRPLPQR
  2281  PMPDQTNTST AGTTDPVPGP PTEPLGDKVS SERKPVAGPT SSSNDALKNL KALKTTVPAL
  2341  LGGQFLPFPL PPAGGTAPPA VFGPQLQGAY FQQLYGMKKG LFPMNPMIPQ TLIGLLPNAL
  2401  LQPPPQPPEP TATAPPKPPE LPAPGEGEAG EVDELLTGST GISTVDVTHR YLCRQCKMAF
  2461  DGEAPATAHQ RSFCFFGRGS GGSMPPPLRV PICTYHCLAC EVLLSGREAL ASHLRSSAHR
  2521  RKAAPPQGGP PISITNAATA ASAAVAFAKE EARLPHTDSN PKTTTTSTLL AL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZFHX2 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: 6.6 nTPM

Expression across tissuesHPA

Tissue

testis: 6.6 nTPM
cerebellum: 3.1 nTPM
cerebral cortex: 3.1 nTPM
pituitary gland: 3 nTPM
retina: 2.4 nTPM
hippocampal formation: 2.2 nTPM

Single-cell type

retinal bipolar cells: 196 nCPM
respiratory ciliated cells: 151 nCPM
ependymal cells: 137 nCPM
early spermatids: 86 nCPM
podocytes: 86 nCPM
retinal amacrine cells: 81 nCPM

Immune cell

neutrophil: 0.3 nTPM
MAIT T-cell: 0.1 nTPM
myeloid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

cerebellum: 43 nTPM
cerebral cortex: 35 nTPM
white matter: 29 nTPM
hippocampal formation: 28 nTPM
basal ganglia: 27 nTPM
amygdala: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZFHX2.

Disease | AllUniProt

Conditions ZFHX2 is implicated in, by any mechanism.

Marsili syndrome (MARSIS) MIM:147430

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 586 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Indifference to pain, congenital, 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): 0.28
gnomAD pLI: 1
gnomAD missense Z: 2.95
DepMap mean gene effect: 0.02
DepMap dependency class: selective

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZFHX2 as an antibody target. Whether an autoantibody or antibody against ZFHX2 could matter depends on whether native ZFHX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZFHX2 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 ZFHX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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