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UniProtKB - O60315 (ZEB2_HUMAN)

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Protein

Zinc finger E-box-binding homeobox 2

Gene

ZEB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri211 – 234C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri241 – 263C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri282 – 304C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri310 – 334C2H2-type 4; atypicalPROSITE-ProRule annotationAdd BLAST25
Zinc fingeri581 – 605C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST25
DNA bindingi644 – 703Homeobox; atypicalAdd BLAST60
Zinc fingeri999 – 1021C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1027 – 1049C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1055 – 1076C2H2-type 8; atypicalPROSITE-ProRule annotationAdd BLAST22

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell proliferation in forebrain Source: Ensembl
  • collateral sprouting Source: Ensembl
  • corpus callosum morphogenesis Source: Ensembl
  • corticospinal tract morphogenesis Source: Ensembl
  • developmental pigmentation Source: BHF-UCL
  • hippocampus development Source: Ensembl
  • mammillary axonal complex development Source: Ensembl
  • melanocyte migration Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • nervous system development Source: UniProtKB
  • neural crest cell migration Source: Ensembl
  • neural tube closure Source: Ensembl
  • positive regulation of axonogenesis Source: Ensembl
  • positive regulation of JUN kinase activity Source: Ensembl
  • positive regulation of lens fiber cell differentiation Source: Ensembl
  • positive regulation of melanin biosynthetic process Source: BHF-UCL
  • positive regulation of melanocyte differentiation Source: BHF-UCL
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • positive regulation of Wnt signaling pathway Source: Ensembl
  • regulation of melanosome organization Source: BHF-UCL
  • somitogenesis Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiO60315
SIGNORiO60315

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger E-box-binding homeobox 2
Alternative name(s):
Smad-interacting protein 1
Short name:
SMADIP1
Zinc finger homeobox protein 1b
Gene namesi
Name:ZEB2
Synonyms:KIAA0569, SIP1, ZFHX1B, ZFX1B
ORF Names:HRIHFB2411
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000169554.16
HGNCiHGNC:14881 ZEB2
MIMi605802 gene
neXtProtiNX_O60315

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mowat-Wilson syndrome (MOWS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.
See also OMIM:235730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02701699Missing in MOWS. 1 Publication1
Natural variantiVAR_027017953R → G in MOWS. 1 Publication1
Natural variantiVAR_0270181119Q → R in MOWS. 1 PublicationCorresponds to variant dbSNP:rs137852983EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Hirschsprung disease, Mental retardation

Organism-specific databases

DisGeNETi9839
GeneReviewsiZEB2
MalaCardsiZEB2
MIMi235730 phenotype
OpenTargetsiENSG00000169554
Orphaneti261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
261537 Mowat-Wilson syndrome due to monosomy 2q22
PharmGKBiPA162409612

Polymorphism and mutation databases

BioMutaiZEB2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472361 – 1214Zinc finger E-box-binding homeobox 2Add BLAST1214

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei142PhosphoserineCombined sources1
Modified residuei356PhosphoserineBy similarity1
Modified residuei360PhosphoserineCombined sources1
Modified residuei364PhosphoserineBy similarity1
Modified residuei377N6-acetyllysineCombined sources1
Cross-linki391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki479Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki555Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki611Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki632Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei647PhosphoserineCombined sources1
Cross-linki713Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei731PhosphoserineBy similarity1
Modified residuei780PhosphoserineBy similarity1
Modified residuei782PhosphothreonineCombined sources1
Modified residuei784PhosphoserineCombined sources1
Cross-linki866Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki866Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1122PhosphoserineCombined sources1
Modified residuei1124PhosphoserineBy similarity1
Modified residuei1203PhosphoserineBy similarity1

Post-translational modificationi

Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO60315
MaxQBiO60315
PaxDbiO60315
PeptideAtlasiO60315
PRIDEiO60315
ProteomicsDBi49342

PTM databases

iPTMnetiO60315
PhosphoSitePlusiO60315

Expressioni

Gene expression databases

BgeeiENSG00000169554
CleanExiHS_SIP1
HS_ZEB2
ExpressionAtlasiO60315 baseline and differential
GenevisibleiO60315 HS

Organism-specific databases

HPAiHPA003456

Interactioni

Subunit structurei

Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115175, 22 interactors
CORUMiO60315
ELMiO60315
IntActiO60315, 23 interactors
MINTiO60315
STRINGi9606.ENSP00000302501

Structurei

Secondary structure

11214
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi654 – 665Combined sources12
Helixi671 – 681Combined sources11
Helixi685 – 700Combined sources16

3D structure databases

ProteinModelPortaliO60315
SMRiO60315
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO60315

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni437 – 487SMAD-MH2 binding domainBy similarityAdd BLAST51

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1084 – 1214Glu-rich (acidic)Add BLAST131

Sequence similaritiesi

Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri211 – 234C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri241 – 263C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri282 – 304C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri310 – 334C2H2-type 4; atypicalPROSITE-ProRule annotationAdd BLAST25
Zinc fingeri581 – 605C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST25
Zinc fingeri999 – 1021C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1027 – 1049C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1055 – 1076C2H2-type 8; atypicalPROSITE-ProRule annotationAdd BLAST22

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IMF7 Eukaryota
ENOG410ZQ40 LUCA
GeneTreeiENSGT00630000089829
HOGENOMiHOG000264256
HOVERGENiHBG004697
InParanoidiO60315
KOiK09299
OrthoDBiEOG091G0F7Y
PhylomeDBiO60315
TreeFamiTF331759

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR008598 Di19_Zn_binding_dom
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF05605 zf-Di19, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00355 ZnF_C2H2, 8 hits
SUPFAMiSSF46689 SSF46689, 1 hit
SSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 5 hits
PS50157 ZINC_FINGER_C2H2_2, 6 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60315-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD 
        60         70         80         90        100
GIANPLDQET SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN 
       110        120        130        140        150
EILQASVDGP EEMKEDYDTM GPEATIQTAI NNGTVKNANC TSDFEEYFAK 
       160        170        180        190        200
RKLEERDGHA VSIEEYLQRS DTAIIYPEAP EELSRLGTPE ANGQEENDLP 
       210        220        230        240        250
PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN FSCPLCSYTF 
       260        270        280        290        300
AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH 
       310        320        330        340        350
LRIHSGEKPY ECPNCKKRFS HSGSYSSHIS SKKCIGLISV NGRMRNNIKT 
       360        370        380        390        400
GSSPNSVSSS PTNSAITQLR NKLENGKPLS MSEQTGLLKI KTEPLDFNDY 
       410        420        430        440        450
KVLMATHGFS GTSPFMNGGL GATSPLGVHP SAQSPMQHLG VGMEAPLLGF 
       460        470        480        490        500
PTMNSNLSEV QKVLQIVDNT VSRQKMDCKA EEISKLKGYH MKDPCSQPEE 
       510        520        530        540        550
QGVTSPNIPP VGLPVVSHNG ATKSIIDYTL EKVNEAKACL QSLTTDSRRQ 
       560        570        580        590        600
ISNIKKEKLR TLIDLVTDDK MIENHNISTP FSCQFCKESF PGPIPLHQHE 
       610        620        630        640        650
RYLCKMNEEI KAVLQPHENI VPNKAGVFVD NKALLLSSVL SEKGMTSPIN 
       660        670        680        690        700
PYKDHMSVLK AYYAMNMEPN SDELLKISIA VGLPQEFVKE WFEQRKVYQY 
       710        720        730        740        750
SNSRSPSLER SSKPLAPNSN PPTKDSLLPR SPVKPMDSIT SPSIAELHNS 
       760        770        780        790        800
VTNCDPPLRL TKPSHFTNIK PVEKLDHSRS NTPSPLNLSS TSSKNSHSSS 
       810        820        830        840        850
YTPNSFSSEE LQAEPLDLSL PKQMKEPKSI IATKNKTKAS SISLDHNSVS 
       860        870        880        890        900
SSSENSDEPL NLTFIKKEFS NSNNLDNKST NPVFSMNPFS AKPLYTALPP 
       910        920        930        940        950
QSAFPPATFM PPVQTSIPGL RPYPGLDQMS FLPHMAYTYP TGAATFADMQ 
       960        970        980        990       1000
QRRKYQRKQG FQGELLDGAQ DYMSGLDDMT DSDSCLSRKK IKKTESGMYA 
      1010       1020       1030       1040       1050
CDLCDKTFQK SSSLLRHKYE HTGKRPHQCQ ICKKAFKHKH HLIEHSRLHS 
      1060       1070       1080       1090       1100
GEKPYQCDKC GKRFSHSGSY SQHMNHRYSY CKREAEEREA AEREAREKGH 
      1110       1120       1130       1140       1150
LEPTELLMNR AYLQSITPQG YSDSEERESM PRDGESEKEH EKEGEDGYGK 
      1160       1170       1180       1190       1200
LGRQDGDEEF EEEEEESENK SMDTDPETIR DEEETGDHSM DDSSEDGKME 
      1210 
TKSDHEEDNM EDGM
Length:1,214
Mass (Da):136,447
Last modified:August 1, 1998 - v1
Checksum:iB578FD91339C3FDD
GO
Isoform 2 (identifier: O60315-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-134: Missing.

Note: No experimental confirmation available.
Show »
Length:1,190
Mass (Da):133,806
Checksum:iB9E3278A9EEF8AAC
GO

Sequence cautioni

The sequence BAA25495 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1155D → G in BAH11928 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02701699Missing in MOWS. 1 Publication1
Natural variantiVAR_027017953R → G in MOWS. 1 Publication1
Natural variantiVAR_035563983D → N in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0270181119Q → R in MOWS. 1 PublicationCorresponds to variant dbSNP:rs137852983EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044797111 – 134Missing in isoform 2. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029472 Genomic DNA Translation: AAK52081.1
AB056507 mRNA Translation: BAB40819.1
AB011141 mRNA Translation: BAA25495.2 Different initiation.
AK294928 mRNA Translation: BAH11928.1
AC009951 Genomic DNA No translation available.
AC010130 Genomic DNA No translation available.
BC127102 mRNA Translation: AAI27103.1
AB015341 mRNA Translation: BAA34798.1
CCDSiCCDS2186.1 [O60315-1]
CCDS54403.1 [O60315-2]
RefSeqiNP_001165124.1, NM_001171653.1 [O60315-2]
NP_055610.1, NM_014795.3 [O60315-1]
XP_006712944.1, XM_006712881.3 [O60315-1]
XP_006712945.1, XM_006712882.3 [O60315-1]
UniGeneiHs.34871

Genome annotation databases

EnsembliENST00000409487; ENSP00000386854; ENSG00000169554 [O60315-1]
ENST00000539609; ENSP00000443792; ENSG00000169554 [O60315-2]
ENST00000558170; ENSP00000454157; ENSG00000169554 [O60315-1]
ENST00000627532; ENSP00000487174; ENSG00000169554 [O60315-1]
GeneIDi9839
KEGGihsa:9839
UCSCiuc002tvu.4 human [O60315-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZEB2_HUMAN
AccessioniPrimary (citable) accession number: O60315
Secondary accession number(s): A0JP09
, B7Z2P2, F5H814, Q9UED1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1998
Last modified: June 20, 2018
This is version 193 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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