KLF11 (Kruppel like factor 11)

Gene

• Entrez ID: 8462
• Gene name: Kruppel like factor 11
• Gene symbol: KLF11
• Synonyms: FKLF, FKLF1, MODY7, TIEG2, Tieg3
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34336420	C>G,T	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs121912645	G>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016644	hsa-miR-429	Reporter assay	20005803
MIRT020284	hsa-miR-130b-3p	Sequencing	20371350
MIRT020356	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021077	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021660	hsa-miR-141-3p	Reporter assay	20005803
MIRT024132	hsa-miR-200b-3p	Reporter assay	20005803
MIRT028132	hsa-miR-93-5p	Sequencing	20371350

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Unknown	20060466
STAT3	Activation	18505768

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	IDA	21171965
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	21171965
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	21171965
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21171965
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9748269
GO:0005515	Function	Protein binding	IPI	17500595, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	TAS	9748269
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005925	Component	Focal adhesion	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006915	Process	Apoptotic process	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	21171965
GO:0016604	Component	Nuclear body	IDA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	21171965
GO:0046872	Function	Metal ion binding	IEA
GO:1901653	Process	Cellular response to peptide	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 603301
• HGNC: 11811
• e!Ensembl: ENSG00000172059

Protein

• UniProt ID: O14901
• Protein name: Krueppel-like factor 11 (Transforming growth factor-beta-inducible early growth response protein 2) (TGFB-inducible early growth response protein 2) (TIEG-2)
• Protein function: Transcription factor (PubMed:9748269, PubMed:10207080). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:9748269, PubMed:10207080, PubMed:16131492). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity).
• PDB: 1PO4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	394 → 418	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	424 → 448	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	454 → 476	Zinc finger, C2H2 type	Domain

• Sequence:

  MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQR
  SQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTR
  TPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIRHTG
  ESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
  LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLP
  AFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMA
  AGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRTHTG
  EKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
  KIPGWQAEVGKLNRIASAESPGSPLVSMPASA

• Sequence length: 512

Associated diseases

Disease name	Disease term	References
	Congenital Hyperinsulinism
	Hyperinsulinemic hypoglycemia
	Congenital hypoplasia of pancreas
	Diabetes Mellitus, Non-Insulin-Dependent
	Transient neonatal diabetes mellitus
	Exocrine pancreatic insufficiency
	Hepatocellular Adenoma
	Hyperglycemia
	Hypoinsulinaemia (disorder)
	Kidney Diseases
	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder)	15774581
	Maturity onset diabetes mellitus in young	21844708
	MODY
	Monogenic diabetes
	Neonatal hypoglycemia
	Obesity
	Simple renal cyst
	Retinal Diseases