Gene Gene information from NCBI Gene database.
Entrez ID 6935
Gene name Zinc finger E-box binding homeobox 1
Gene symbol ZEB1
Synonyms (NCBI Gene)
AREB6BZPDELTAEF1FECD6NIL2APPCD3TCF8ZFHEPZFHX1A
Chromosome 10
Chromosome location 10p11.22
Summary This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs766305306 ->G Pathogenic Coding sequence variant, frameshift variant
rs1057518956 C>T Pathogenic Stop gained, coding sequence variant
rs1554930679 CAAT>- Pathogenic Frameshift variant, coding sequence variant
rs1592090713 G>T Pathogenic Stop gained, coding sequence variant
rs1592143384 TG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
287
miRTarBase ID miRNA Experiments Reference
MIRT002480 hsa-miR-200a-3p qRT-PCRWestern blot 19703993
MIRT002480 hsa-miR-200a-3p qRT-PCRLuciferase reporter assayWestern blot 18381893
MIRT002286 hsa-miR-200c-3p qRT-PCRLuciferase reporter assayWestern blot 18381893
MIRT002480 hsa-miR-200a-3p Review 19574400
MIRT002286 hsa-miR-200c-3p Review 19574400
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
EP300 Unknown 16804902
ERG Unknown 21747944
ESR1 Activation 22391641
GATA3 Activation 20731704
KAT2B Repression 22384255
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 23765923, 23814079
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 1840704
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189909 11642 ENSG00000148516
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P37275
Protein name Zinc finger E-box-binding homeobox 1 (NIL-2-A zinc finger protein) (Negative regulator of IL2) (Transcription factor 8) (TCF-8)
Protein function Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces
PDB 2E19
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05605 zf-Di19 168 224 Drought induced 19 protein (Di19), zinc-binding Domain
PF00096 zf-C2H2 240 262 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 268 289 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 932 954 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 960 981 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Colocalizes with SMARCA4/BRG1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed
Sequence
MADGPRCKRRKQANPRRNNVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDD
LPTDQTVLPGRSSEREGNAKNCWEDDRKEGQEILGPEAQADEAGCTVKDDECESDAENEQ
NHDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDENGTPDAFSQLLTCPYCDRGYK
RFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKS
GRDQRHVTQSGCNRKF
KCTECGKAFKYKHHLKEHLRIH
SGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNG
RPRTGLKTSQCSSPSLSASPGSPTRPQIRQKIENKPLQEQLSVNQIKTEPVDYEFKPIVV
ASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTVGLVSPISINLSDIQNVLKVAV
DGNVIRQVLENNQANLASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSLE
QPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGD
INALPELKHYDLKQPTQPPPLPAAEAEKPESSVSSATGDGNLSPSQPPLKNLLSLLKAYY
ALNAQPSAEELSKIADSVNLPLDVVKKWFEKMQAGQISVQSSEPSSPEPGKVNIPAKNND
QPQSANANEPQDSTVNLQSPLKMTNSPVLPVGSTTNGSRSSTPSPSPLNLSSSRNTQGYL
YTAEGAQEEPQVEPLDLSLPKQQGELLERSTITSVYQNSVYSVQEEPLNLSCAKKEPQKD
SCVTDSEPVVNVIPPSANPINIAIPTVTAQLPTIVAIADQNSVPCLRALAANKQTILIPQ
VAYTYSTTVSPAVQEPPLKVIQPNGNQDERQDTSSEGVSNVEDQNDSDSTPPKKKMRKTE
NGMYACDLCDKIFQKSSSLLRHKYEHTGKRPHECGICKKAFKHKHHLIEHMRLHSGEKPY
QCDKCGKRFSHSGSYSQHMNH
RYSYCKREAEERDSTEQEEAGPEILSNEHVGARASPSQG
DSDERESLTREEDEDSEKEEEEEDKEMEELQEEKECEKPQGDEEEEEEEEEVEEEEVEEA
ENEGEEAKTEGLMKDDRAESQASSLGQKVGESSEQVSEEKTNEA
Sequence length 1124
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Transcriptional misregulation in cancer
MicroRNAs in cancer
Prostate cancer
  Interleukin-4 and Interleukin-13 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
44
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Corneal dystrophy Likely pathogenic; Pathogenic rs2543968405, rs2543993592, rs766305306 RCV003313267
RCV003313330
RCV000499953
Corneal dystrophy, Fuchs endothelial, 6 Likely pathogenic; Pathogenic rs2069829602, rs2543968405, rs779148597, rs2543952522, rs1554797626 RCV001334289
RCV002463373
RCV003152395
RCV003152915
RCV003991031
Glaucoma Pathogenic rs1057518956 RCV000415113
Posterior polymorphous corneal dystrophy Likely pathogenic; Pathogenic rs2139506946, rs1057518956 RCV002466691
RCV000415113
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Likely benign rs138507868 RCV005907664
Malignant lymphoma, large B-cell, diffuse Likely benign rs138507868 RCV005907663
ZEB1-related disorder Benign; Likely benign; Uncertain significance rs80194531, rs140617391, rs35501784, rs567821310, rs2544007273, rs117534296, rs1577181 RCV003982838
RCV003923849
RCV003904570
RCV003899178
RCV003911616
RCV003952163
RCV003910376
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 19921427
Adenocarcinoma Associate 25120788
Adenocarcinoma Mucinous Associate 32840168
Adenocarcinoma of Lung Associate 25120788, 33191397, 33825780, 33913391, 34732702, 35342341, 36071042, 36376711, 36604626, 37406091
Adenocarcinoma of Lung Inhibit 29116025
Adrenocortical Carcinoma Associate 30918109
Amyotrophic lateral sclerosis 1 Inhibit 36736597
Aphasia Wernicke Associate 25190660
Arthritis Rheumatoid Associate 12509789, 22355377, 25880754
Asthma Associate 35169275