• Gene id: 9839

Gene Summary

• Gene Symbol: ZEB2   Gene   UCSC   Ensembl
• Aliases: HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B
• Gene name: zinc finger E-box binding homeobox 2
• Alternate names: zinc finger E-box-binding homeobox 2, SMAD interacting protein 1, Smad-interacting protein 1, zinc finger homeobox 1b,
• Gene location: 2q22.3 (144520390: 144384374)     Exons: 11     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 605802

Protein Summary

• Protein general information: O60315  
  • Name: Zinc finger E box binding homeobox 2 (Smad interacting protein 1) (SMADIP1) (Zinc finger homeobox protein 1b)
  • Length: 1214  
  • Mass: 136,447
• Sequence:

  MKQPIMADGPRCKRRKQANPRRKNVVNYDNVVDTGSETDEEDKLHIAEDDGIANPLDQETSPASVPNHESSPHVS
  QALLPREEEEDEIREGGVEHPWHNNEILQASVDGPEEMKEDYDTMGPEATIQTAINNGTVKNANCTSDFEEYFAK
  RKLEERDGHAVSIEEYLQRSDTAIIYPEAPEELSRLGTPEANGQEENDLPPGTPDAFAQLLTCPYCDRGYKRLTS
  LKEHIKYRHEKNEENFSCPLCSYTFAYRTQLERHMVTHKPGTDQHQMLTQGAGNRKFKCTECGKAFKYKHHLKEH
  LRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCIGLISVNGRMRNNIKTGSSPNSVSSSPTNSAITQLRNKLEN
  GKPLSMSEQTGLLKIKTEPLDFNDYKVLMATHGFSGTSPFMNGGLGATSPLGVHPSAQSPMQHLGVGMEAPLLGF
  PTMNSNLSEVQKVLQIVDNTVSRQKMDCKAEEISKLKGYHMKDPCSQPEEQGVTSPNIPPVGLPVVSHNGATKSI
  IDYTLEKVNEAKACLQSLTTDSRRQISNIKKEKLRTLIDLVTDDKMIENHNISTPFSCQFCKESFPGPIPLHQHE
  RYLCKMNEEIKAVLQPHENIVPNKAGVFVDNKALLLSSVLSEKGMTSPINPYKDHMSVLKAYYAMNMEPNSDELL
  KISIAVGLPQEFVKEWFEQRKVYQYSNSRSPSLERSSKPLAPNSNPPTKDSLLPRSPVKPMDSITSPSIAELHNS
  VTNCDPPLRLTKPSHFTNIKPVEKLDHSRSNTPSPLNLSSTSSKNSHSSSYTPNSFSSEELQAEPLDLSLPKQMK
  EPKSIIATKNKTKASSISLDHNSVSSSSENSDEPLNLTFIKKEFSNSNNLDNKSTNPVFSMNPFSAKPLYTALPP
  QSAFPPATFMPPVQTSIPGLRPYPGLDQMSFLPHMAYTYPTGAATFADMQQRRKYQRKQGFQGELLDGAQDYMSG
  LDDMTDSDSCLSRKKIKKTESGMYACDLCDKTFQKSSSLLRHKYEHTGKRPHQCQICKKAFKHKHHLIEHSRLHS
  GEKPYQCDKCGKRFSHSGSYSQHMNHRYSYCKREAEEREAAEREAREKGHLEPTELLMNRAYLQSITPQGYSDSE
  ERESMPRDGESEKEHEKEGEDGYGKLGRQDGDEEFEEEEEESENKSMDTDPETIRDEEETGDHSMDDSSEDGKME
  TKSDHEEDNMEDGM

• Structural information:
  • Interpro: IPR008598  IPR009057  IPR001356  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • CDD: cd00086
  • PDB: 2DA7
  • PDBsum: 2DA7
  • STRING: ENSP00000302501
• Other Databases: GeneCards:  ZEB2  Malacards:  ZEB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007399	nervous system development	NAS	biological process
GO:0019208	phosphatase regulator activity	NAS	molecular function
GO:0021540	corpus callosum morphogenesis	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021957	corticospinal tract morphogenesis	IEA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048023	positive regulation of melanin biosynthetic process	IC	biological process
GO:0048066	developmental pigmentation	ISS	biological process
GO:0048668	collateral sprouting	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0061373	mammillary axonal complex development	IEA	biological process
GO:0070412	R-SMAD binding	IEA	molecular function
GO:0097324	melanocyte migration	ISS	biological process
GO:1902748	positive regulation of lens fiber cell differentiation	IEA	biological process
GO:1903056	regulation of melanosome organization	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007399	nervous system development	NAS	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0019208	phosphatase regulator activity	NAS	molecular function
GO:0021540	corpus callosum morphogenesis	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021846	cell proliferation in forebrain	IEA	biological process
GO:0021957	corticospinal tract morphogenesis	IEA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048023	positive regulation of melanin biosynthetic process	IC	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0048066	developmental pigmentation	ISS	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0048668	collateral sprouting	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0061373	mammillary axonal complex development	IEA	biological process
GO:0070412	R-SMAD binding	IEA	molecular function
GO:0097324	melanocyte migration	IEA	biological process
GO:0097324	melanocyte migration	ISS	biological process
GO:1902748	positive regulation of lens fiber cell differentiation	IEA	biological process
GO:1903056	regulation of melanosome organization	IEA	biological process
GO:1903056	regulation of melanosome organization	ISS	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0007399	nervous system development	NAS	biological process
GO:0019208	phosphatase regulator activity	NAS	molecular function
GO:0045636	positive regulation of melanocyte differentiation	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048023	positive regulation of melanin biosynthetic process	IC	biological process
GO:0048066	developmental pigmentation	ISS	biological process
GO:0097324	melanocyte migration	ISS	biological process
GO:1903056	regulation of melanosome organization	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Cleft defects	GAD: 20634891
Psychological disorders	GAD: 20219685
Disorders of sexual development (DSD)	MIK: 21048976
Mowat-Wilson syndrome	KEGG: H00908
Disorders of sexual development (DSD)	MIK: 21048976
Hypospadias	MIK: 15908750
Non obstructive azoospermia	MIK: 24012201
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21048976	Disorders of sexual development (DSD)			9067 (116 with idiopathic DSD, 8951 controls)	Male infertility	SRY DMRT1 FGFR2 KANK1 ADCY2 and ZEB2
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
15908750	Hypospadias				Male infertility