Gene Gene information from NCBI Gene database.
Entrez ID 9839
Gene name Zinc finger E-box binding homeobox 2
Gene symbol ZEB2
Synonyms (NCBI Gene)
HSPC082SIP-1SIP1SMADIP1ZFHX1B
Chromosome 2
Chromosome location 2q22.3
Summary 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
SNPs SNP information provided by dbSNP.
173
SNP ID Visualize variation Clinical significance Consequence
rs6711223 G>A,T Likely-benign, pathogenic, benign Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs111724246 G>C,T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs137852980 T>A,G Pathogenic Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs137852981 G>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs137852982 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
384
miRTarBase ID miRNA Experiments Reference
MIRT000316 hsa-miR-141-3p qRT-PCR 18925646
MIRT000316 hsa-miR-141-3p qRT-PCR 18925646
MIRT001036 hsa-miR-200c-3p qRT-PCR 18925646
MIRT001036 hsa-miR-200c-3p qRT-PCR 18925646
MIRT001035 hsa-miR-200a-3p qRT-PCRWestern blot 19703993
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PCGF2 Repression 23474752
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12837246, 20516212
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 24769727
GO:0000785 Component Chromatin IDA 20516212
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605802 14881 ENSG00000169554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60315
Protein name Zinc finger E-box-binding homeobox 2 (Smad-interacting protein 1) (SMADIP1) (Zinc finger homeobox protein 1b)
Protein function Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269|Pu
PDB 2DA7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05605 zf-Di19 209 270 Drought induced 19 protein (Di19), zinc-binding Domain
PF00096 zf-C2H2 282 304 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 310 331 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1055 1076 Zinc finger, C2H2 type Domain
Sequence
MKQPIMADGPRCKRRKQANPRRKNVVNYDNVVDTGSETDEEDKLHIAEDDGIANPLDQET
SPASVPNHESSPHVSQALLPREEEEDEIREGGVEHPWHNNEILQASVDGPEEMKEDYDTM
GPEATIQTAINNGTVKNANCTSDFEEYFAKRKLEERDGHAVSIEEYLQRSDTAIIYPEAP
EELSRLGTPEANGQEENDLPPGTPDAFAQLLTCPYCDRGYKRLTSLKEHIKYRHEKNEEN
FSCPLCSYTFAYRTQLERHMVTHKPGTDQH
QMLTQGAGNRKFKCTECGKAFKYKHHLKEH
LRIH
SGEKPYECPNCKKRFSHSGSYSSHISSKKCIGLISVNGRMRNNIKTGSSPNSVSSS
PTNSAITQLRNKLENGKPLSMSEQTGLLKIKTEPLDFNDYKVLMATHGFSGTSPFMNGGL
GATSPLGVHPSAQSPMQHLGVGMEAPLLGFPTMNSNLSEVQKVLQIVDNTVSRQKMDCKA
EEISKLKGYHMKDPCSQPEEQGVTSPNIPPVGLPVVSHNGATKSIIDYTLEKVNEAKACL
QSLTTDSRRQISNIKKEKLRTLIDLVTDDKMIENHNISTPFSCQFCKESFPGPIPLHQHE
RYLCKMNEEIKAVLQPHENIVPNKAGVFVDNKALLLSSVLSEKGMTSPINPYKDHMSVLK
AYYAMNMEPNSDELLKISIAVGLPQEFVKEWFEQRKVYQYSNSRSPSLERSSKPLAPNSN
PPTKDSLLPRSPVKPMDSITSPSIAELHNSVTNCDPPLRLTKPSHFTNIKPVEKLDHSRS
NTPSPLNLSSTSSKNSHSSSYTPNSFSSEELQAEPLDLSLPKQMKEPKSIIATKNKTKAS
SISLDHNSVSSSSENSDEPLNLTFIKKEFSNSNNLDNKSTNPVFSMNPFSAKPLYTALPP
QSAFPPATFMPPVQTSIPGLRPYPGLDQMSFLPHMAYTYPTGAATFADMQQRRKYQRKQG
FQGELLDGAQDYMSGLDDMTDSDSCLSRKKIKKTESGMYACDLCDKTFQKSSSLLRHKYE
HTGKRPHQCQICKKAFKHKHHLIEHSRLHSGEKPYQCDKCGKRFSHSGSYSQHMNHRYSY
CKREAEEREAAEREAREKGHLEPTELLMNRAYLQSITPQGYSDSEERESMPRDGESEKEH
EKEGEDGYGKLGRQDGDEEFEEEEEESENKSMDTDPETIRDEEETGDHSMDDSSEDGKME
TKSDHEEDNMEDGM
Sequence length 1214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  MicroRNAs in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1252
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Likely pathogenic rs1060499770 RCV000454268
Abnormality of the nervous system Pathogenic rs527679524 RCV001814563
Intellectual disability Likely pathogenic; Pathogenic rs2149872651, rs587784566, rs886041989 RCV005626491
RCV001260793
RCV001260810
Marfanoid habitus and intellectual disability Likely pathogenic rs1573708180, rs1573713430 RCV000850436
RCV000850458
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs1367365874 RCV005926042
Aganglionic megacolon Uncertain significance rs1573707562 RCV000984708
Arthrogryposis multiplex congenita Uncertain significance rs1434660770 RCV000855505
Cleft lip/palate Benign; Likely benign rs367991951 RCV005625675
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 37735378
Adenocarcinoma Mucinous Associate 32840168
Adenocarcinoma of Lung Associate 27733346
Adenocarcinoma of Lung Inhibit 29116025
Agenesis of Corpus Callosum Associate 11595972, 27831545
Alcoholism Associate 28040410
Anisometropia Associate 37266952
Ascites Associate 34211089
Astigmatism Associate 36676725
Atherosclerosis Associate 36720950