• Gene id: 687

Gene Summary

• Gene Symbol: KLF9   Gene   UCSC   Ensembl
• Aliases: BTEB, BTEB1
• Gene name: Kruppel like factor 9
• Alternate names: Krueppel-like factor 9, BTE-binding protein 1, GC-box-binding protein 1, basic transcription element-binding protein 1, transcription factor BTEB1,
• Gene location: 9q21.12 (47906497: 47806919)     Exons: 25     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates trans
• OMIM: 602902

SNPs

rs587777427

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293530C>A
NC_000018.10   g.26293530C>T
NC_000018.9   g.23873494C>A
NC_000018.9   g.23873494C>T
NG_034162.1   g.71648C>A
NG_034162.1   g.71648C>T
NM_005640.3   c.1831C>A
NM_005640.3   c.1831C>T
NM_005640.2   c.1831C>A
NM_005640.2   c.1831C>T
NM_005640.  

rs1677016

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.26293499T>A
NC_000018.10   g.26293499T>C
NC_000018.10   g.26293499T>G
NC_000018.9   g.23873463T>A
NC_000018.9   g.23873463T>C
NC_000018.9   g.23873463T>G
NG_034162.1   g.71617T>A
NG_034162.1   g.71617T>C
NG_034162.1   g.71617T>G
NM_005640.3   c.1800T>A
  

Protein Summary

• Protein general information: Q13886  
  • Name: Krueppel like factor 9 (Basic transcription element binding protein 1) (BTE binding protein 1) (GC box binding protein 1) (Transcription factor BTEB1)
  • Length: 244  
  • Mass: 27235
  • Tissue specificity: Epidermis (at protein level). {ECO
• Sequence:

  MSAAAYMDFVAAQCLVSISNRAAVPEHGVAPDAERLRLPEREVTKEHGDPGDTWKDYCTLVTIAKSLLDLNKYRP
  IQTPSVCSDSLESPDEDMGSDSDVTTESGSSPSHSPEERQDPGSAPSPLSLLHPGVAAKGKHASEKRHKCPYSGC
  GKVYGKSSHLKAHYRVHTGERPFPCTWPDCLKKFSRSDELTRHYRTHTGEKQFRCPLCEKRFMRSDHLTKHARRH
  TEFHPSMIKRSKKALANAL

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000366330
• Other Databases: GeneCards:  KLF9  Malacards:  KLF9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive 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:0071387	cellular response to cortisol stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0010839	negative regulation of keratinocyte proliferation	IMP	biological process
GO:0007623	circadian rhythm	IEP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097067	cellular response to thyroid hormone stimulus	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray