• Gene id: 57623

Gene Summary

• Gene Symbol: ZFAT   Gene   UCSC   Ensembl
• Aliases: AITD3, ZFAT1, ZNF406
• Gene name: zinc finger and AT-hook domain containing
• Alternate names: zinc finger protein ZFAT, zinc finger gene in autoimmune thyroid disease, zinc finger protein 406, zinc-finger gene in AITD susceptibility region,
• Gene location: 8q24.22 (134713030: 134477787)     Exons: 24     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splic
• OMIM: 610590

Protein Summary

• Protein general information: Q9P243  
  • Name: Zinc finger protein ZFAT (Zinc finger gene in AITD susceptibility region) (Zinc finger protein 406)
  • Length: 1243  
  • Mass: 139034
  • Tissue specificity: Isoform 1 is strongly expressed in placenta, spleen, kidney, testis and peripheral blood leukocytes. Expressed in CD4+ and CD8+ T-cells, CD19+ B-cells and CB14+ monocytes. Isoform 3 is strongly expressed in placenta, ovary, tonsil, CD1
• Sequence:

  METRAAENTAIFMCKCCNLFSPNQSELLSHVSEKHMEEGVNVDEIIIPLRPLSTPEPPNSSKTGDEFLVMKRKRG
  RPKGSTKKSSTEEELAENIVSPTEDSPLAPEEGNSLPPSSLECSKCCRKFSNTRQLRKHICIIVLNLGEEEGEAG
  NESDLELEKKCKEDDREKASKRPRSQKTEKVQKISGKEARQLSGAKKPIISVVLTAHEAIPGATKIVPVEAGPPE
  TGATNSETTSADLVPRRGYQEYAIQQTPYEQPMKSSRLGPTQLKIFTCEYCNKVFKFKHSLQAHLRIHTNEKPYK
  CPQCSYASAIKANLNVHLRKHTGEKFACDYCSFTCLSKGHLKVHIERVHKKIKQHCRFCKKKYSDVKNLIKHIRD
  AHDPQDKKVKEALDELCLMTREGKRQLLYDCHICERKFKNELDRDRHMLVHGDKWPFACELCGHGATKYQALELH
  VRKHPFVYVCAVCRKKFVSSIRLRTHIKEVHGAAQEALVFTSSINQSFCLLEPGGDIQQEALGDQLQLVEEEFAL
  QGVNALKEEACPGDTQLEEGRKEPEAPGEMPAPAVHLASPQAESTALPPCELETTVVSSSDLHSQEVVSDDFLLK
  NDTSSAEAHAAPEKPPDMQHRSSVQTQGEVITLLLSKAQSAGSDQESHGAQSPLGEGQNMAVLSAGDPDPSRCLR
  SNPAEASDLLPPVAGGGDTITHQPDSCKAAPEHRSGITAFMKVLNSLQKKQMNTSLCERIRKVYGDLECEYCGKL
  FWYQVHFDMHVRTHTREHLYYCSQCHYSSITKNCLKRHVIQKHSNILLKCPTDGCDYSTPDKYKLQAHLKVHTAL
  DKRSYSCPVCEKSFSEDRLIKSHIKTNHPEVSMSTISEVLGRRVQLKGLIGKRAMKCPYCDFYFMKNGSDLQRHI
  WAHEGVKPFKCSLCEYATRSKSNLKAHMNRHSTEKTHLCDMCGKKFKSKGTLKSHKLLHTADGKQFKCTVCDYTA
  AQKPQLLRHMEQHVSFKPFRCAHCHYSCNISGSLKRHYNRKHPNEEYANVGTGELAAEVLIQQGGLKCPVCSFVY
  GTKWEFNRHLKNKHGLKVVEIDGDPKWETATEAPEEPSTQYLHITEAEEDVQGTQAAVAALQDLRYTSESGDRLD
  PTAVNILQQIIELGAETHDATALASVVAMAPGTVTVVKQVTEEEPSSNHTVMIQETVQQASVELAEQHHLVVSSD
  DVEGIETVTVYTQGGEASEFIVYVQEAMQPVEEQAVEQPAQEL

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 2ELM 2ELN 2ELO 2ELP 2ELQ 2ELR 2ELS 2ELT 2ELU 2ELV 2RSH 2RSI 2RSJ 2RUT 2RUU 2RUV 2RUW 2RUX 2RUY 2RUZ 2RV0 2RV1 2RV2 2RV3 2RV6 2RV7
  • PDBsum: 2ELM 2ELN 2ELO 2ELP 2ELQ 2ELR 2ELS 2ELT 2ELU 2ELV 2RSH 2RSI 2RSJ 2RUT 2RUU 2RUV 2RUW 2RUX 2RUY 2RUZ 2RV0 2RV1 2RV2 2RV3 2RV6 2RV7
  • STRING: ENSP00000367069
• Other Databases: GeneCards:  ZFAT  Malacards:  ZFAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0060712	spongiotrophoblast layer development	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq