Gene Gene information from NCBI Gene database.
Entrez ID 8462
Gene name KLF transcription factor 11
Gene symbol KLF11
Synonyms (NCBI Gene)
FKLFFKLF1MODY7TIEG2Tieg3
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
SNPs SNP information provided by dbSNP.
2
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 miRNA information provided by mirtarbase database.
325
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NR1H4 Unknown 20060466
STAT3 Activation 18505768
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21171965
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 9748269
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 21171965
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603301 11811 ENSG00000172059
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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:10207080, PubMed:9748269). 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:1
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Higher expression in erythroid cells. {ECO:0000269|PubMed:10207080}.
Sequence
MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQR
SQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTR
TPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIRHTG
ESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLP
AFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMA
AGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRTHTG
EKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
KIPGWQAEVGKLNRIASAESPGSPLVSMPASA
Sequence length 512
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes mellitus Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 31146115
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30899365
★☆☆☆☆
Found in Text Mining only
Brain Infarction Brain Infarction BEFREE 28456933
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29923255
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31640084, 37199905 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31498019
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30602303
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 31612481 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Hyperinsulinism Hyperinsulinemic hypoglycemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of pancreas Pancreatic hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only