Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6935
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger E-box binding homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZEB1
Synonyms (NCBI Gene) Gene synonyms aliases
AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP, ZFHX1A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FECD6, PPCD3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002480 hsa-miR-200a-3p qRT-PCR, Western blot 19703993
MIRT002480 hsa-miR-200a-3p qRT-PCR, Luciferase reporter assay, Western blot 18381893
MIRT002286 hsa-miR-200c-3p qRT-PCR, Luciferase reporter assay, Western blot 18381893
MIRT002480 hsa-miR-200a-3p Review 19574400
MIRT002286 hsa-miR-200c-3p Review 19574400
Transcription factors
Transcription factor Regulation Reference
EP300 Unknown 16804902
ERG Unknown 21747944
ESR1 Activation 22391641
GATA3 Activation 20731704
KAT2B Repression 22384255
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 23765923, 23814079
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
189909 11642 ENSG00000148516
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
21501481, 19839049
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
19839049, 21501481
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Corneal endothelial dystrophy CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 rs267607064, rs1600618680, rs80358191, rs80358192, rs727504229 16252232, 25190660, 20036349, 23599324
Unknown
Disease term Disease name Evidence References Source
Corneal Dystrophy Fuchs' endothelial dystrophy GenCC
Uterine Fibroids Uterine Fibroids GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
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