Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9839
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger E-box binding homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZEB2
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q22.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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-PCR, Western blot 19703993
Transcription factors
Transcription factor Regulation Reference
PCGF2 Repression 23474752
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 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605802 14881 ENSG00000169554
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mowat-Wilson Syndrome mowat-wilson syndrome rs786204814, rs398124274, rs1553961598, rs1553961747, rs1560604977, rs794727924, rs727504226, rs587776605, rs1573716158, rs886041989, rs786204810, rs786204807, rs398124280, rs1553961510, rs1553964145
View all (100 more)
N/A
Mental retardation intellectual disability rs587784566, rs886041989 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Lennox-Gastaut Syndrome lennox-gastaut syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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