• Gene id: 27022

Gene Summary

• Gene Symbol: FOXD3   Gene   UCSC   Ensembl
• Aliases: AIS1, Genesis, HFH2, VAMAS2
• Gene name: forkhead box D3
• Alternate names: forkhead box protein D3, HNF3/FH transcription factor genesis,
• Gene location: 1p31.3 (63322566: 63325127)     Exons: 1     NC_000001.11
• Gene summary(Entrez): This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
• OMIM: 604433

Protein Summary

• Protein general information: Q9UJU5  
  • Name: Forkhead box protein D3 (HNF3/FH transcription factor genesis)
  • Length: 478  
  • Mass: 47630
  • Tissue specificity: Expressed in chronic myeloid leukemia, Jurkat T-cell leukemia and teratocarcinoma cell lines, but not in any other cell lines or normal tissues examined. {ECO
• Sequence:

  MTLSGGGSASDMSGQTVLTAEDVDIDVVGEGDDGLEEKDSDAGCDSPAGPPELRLDEADEVPPAAPHHGQPQPPH
  QQPLTLPKEAAGAGAGPGGDVGAPEADGCKGGVGGEEGGASGGGPGAGSGSAGGLAPSKPKNSLVKPPYSYIALI
  TMAILQSPQKKLTLSGICEFISNRFPYYREKFPAWQNSIRHNLSLNDCFVKIPREPGNPGKGNYWTLDPQSEDMF
  DNGSFLRRRKRFKRHQQEHLREQTALMMQSFGAYSLAAAAGAAGPYGRPYGLHPAAAAGAYSHPAAAAAAAAAAA
  LQYPYALPPVAPVLPPAVPLLPSGELGRKAAAFGSQLGPGLQLQLNSLGAAAAAAGTAGAAGTTASLIKSEPSAR
  PSFSIENIIGGGPAAPGGSAVGAGVAGGTGGSGGGSTAQSFLRPPGTVQSAALMATHQPLSLSRTTATIAPILSV
  PLSGQFLQPAASAAAAAAAAAQAKWPAQ

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000360157
• Other Databases: GeneCards:  FOXD3  Malacards:  FOXD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray