Seroatlas · Human Serome Atlas

ZEB2

Zinc finger E-box-binding homeobox 2

Also known as: KIAA0569, SIP-1, SIP1, ZEB2_HUMAN, ZFHX1B

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

Protein identityUniProt · HPA

UniProt accession: O60315
Gene: ZEB2
Ensembl: ENSG00000169554
Chromosome: 2
Canonical length: 1214 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

1214 residues, UniProt reviewed canonical sequence.

>O60315|ZEB2
     1  MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD GIANPLDQET
    61  SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN EILQASVDGP EEMKEDYDTM
   121  GPEATIQTAI NNGTVKNANC TSDFEEYFAK RKLEERDGHA VSIEEYLQRS DTAIIYPEAP
   181  EELSRLGTPE ANGQEENDLP PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN
   241  FSCPLCSYTF AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH
   301  LRIHSGEKPY ECPNCKKRFS HSGSYSSHIS SKKCIGLISV NGRMRNNIKT GSSPNSVSSS
   361  PTNSAITQLR NKLENGKPLS MSEQTGLLKI KTEPLDFNDY KVLMATHGFS GTSPFMNGGL
   421  GATSPLGVHP SAQSPMQHLG VGMEAPLLGF PTMNSNLSEV QKVLQIVDNT VSRQKMDCKA
   481  EEISKLKGYH MKDPCSQPEE QGVTSPNIPP VGLPVVSHNG ATKSIIDYTL EKVNEAKACL
   541  QSLTTDSRRQ ISNIKKEKLR TLIDLVTDDK MIENHNISTP FSCQFCKESF PGPIPLHQHE
   601  RYLCKMNEEI KAVLQPHENI VPNKAGVFVD NKALLLSSVL SEKGMTSPIN PYKDHMSVLK
   661  AYYAMNMEPN SDELLKISIA VGLPQEFVKE WFEQRKVYQY SNSRSPSLER SSKPLAPNSN
   721  PPTKDSLLPR SPVKPMDSIT SPSIAELHNS VTNCDPPLRL TKPSHFTNIK PVEKLDHSRS
   781  NTPSPLNLSS TSSKNSHSSS YTPNSFSSEE LQAEPLDLSL PKQMKEPKSI IATKNKTKAS
   841  SISLDHNSVS SSSENSDEPL NLTFIKKEFS NSNNLDNKST NPVFSMNPFS AKPLYTALPP
   901  QSAFPPATFM PPVQTSIPGL RPYPGLDQMS FLPHMAYTYP TGAATFADMQ QRRKYQRKQG
   961  FQGELLDGAQ DYMSGLDDMT DSDSCLSRKK IKKTESGMYA CDLCDKTFQK SSSLLRHKYE
  1021  HTGKRPHQCQ ICKKAFKHKH HLIEHSRLHS GEKPYQCDKC GKRFSHSGSY SQHMNHRYSY
  1081  CKREAEEREA AEREAREKGH LEPTELLMNR AYLQSITPQG YSDSEERESM PRDGESEKEH
  1141  EKEGEDGYGK LGRQDGDEEF EEEEEESENK SMDTDPETIR DEEETGDHSM DDSSEDGKME
  1201  TKSDHEEDNM EDGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZEB2 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): 0.61
Highest tissue expression: 177 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 177 nTPM
midbrain: 126 nTPM
bone marrow: 119 nTPM
hippocampal formation: 103 nTPM
amygdala: 96 nTPM
basal ganglia: 92 nTPM

Single-cell type

monocytes: 3,291 nCPM
neutrophils: 1,952 nCPM
oligodendrocytes: 1,841 nCPM
monocyte progenitors: 1,740 nCPM
megakaryocyte-erythroid progenitors: 1,626 nCPM
mast cells: 1,485 nCPM

Immune cell

classical monocyte: 48 nTPM
non-classical monocyte: 44 nTPM
intermediate monocyte: 43 nTPM
basophil: 28 nTPM
myeloid DC: 27 nTPM
plasmacytoid DC: 22 nTPM

Brain region

white matter: 839 nTPM
basal ganglia: 615 nTPM
thalamus: 596 nTPM
medulla oblongata: 585 nTPM
midbrain: 527 nTPM
cerebral cortex: 501 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZEB2.

Disease | AllUniProt

Conditions ZEB2 is implicated in, by any mechanism.

Mowat-Wilson syndrome (MOWS) MIM:235730

Disease | GeneticClinVar

402 pathogenic / likely-pathogenic of 1,632 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mowat-Wilson syndrome
Inborn genetic diseases
See cases
ZEB2-related disorder
Intellectual disability

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): 0.11
gnomAD pLI: 1
gnomAD missense Z: 3.94
DepMap mean gene effect: -0.33
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZEB2 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 ZEB2 as an antibody target. Whether an autoantibody or antibody against ZEB2 could matter depends on whether native ZEB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZEB2 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 ZEB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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