Gene Gene information from NCBI Gene database.
Entrez ID 1316
Gene name KLF transcription factor 6
Gene symbol KLF6
Synonyms (NCBI Gene)
BCD1CBA1COPEBCPBPGBFPAC1ST12ZF9
Chromosome 10
Chromosome location 10p15.2
Summary This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs121909139 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121909140 G>A,C,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs121909141 G>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121909142 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121909143 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
660
miRTarBase ID miRNA Experiments Reference
MIRT006939 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22581522
MIRT022229 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR1I2 Activation 21072196
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18755691
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602053 2235 ENSG00000067082
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99612
Protein name Krueppel-like factor 6 (B-cell-derived protein 1) (Core promoter element-binding protein) (GC-rich sites-binding factor GBF) (Proto-oncogene BCD1) (Suppressor of tumorigenicity 12 protein) (Transcription factor Zf9)
Protein function Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 200 224 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 230 254 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 260 282 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta followed by spleen, thymus, prostate, testis, small intestine and colon. Weakly expressed in pancreas, lung, liver, heart and skeletal muscle. Also expressed in fetal brain, spleen and thymus.
Sequence
MDVLPMCSIFQELQIVHETGYFSALPSLEEYWQQTCLELERYLQSEPCYVSASEIKFDSQ
EDLWTKIILAREKKEESELKISSSPPEDTLISPSFCYNLETNSLNSDVSSESSDSSEELS
PTAKFTSDPIGEVLVSSGKLSSSVTSTPPSSPELSREPSQLWGCVPGELPSPGKVRSGTS
GKPGDKGNGDASPDGRRRVHRCHFNGCRKVYTKSSHLKAHQRTHTGEKPYRCSWEGCEWR
FARSDELTRHFRKH
TGAKPFKCSHCDRCFSRSDHLALHMKRHL
Sequence length 283
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Pathogenic rs121909144 RCV000008010
Prostate cancer, somatic Pathogenic rs121909139, rs121909140, rs121909141, rs121909142, rs121909143 RCV000008005
RCV000008006
RCV000008007
RCV000008008
RCV000008009
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypotension not provided; Benign; Likely benign rs483352821, rs112418040, rs142749289, rs112847236, rs111743412, rs367807577 RCV000119252
RCV000119253
RCV000119254
RCV000119255
RCV000119256
RCV000119257
Malignant tumor of urinary bladder - rs2131099096 RCV005929957
Melanoma - rs2131095903 RCV005922505
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 32222722
Adenocarcinoma of Lung Associate 18250346, 33734616, 33769671
Arthritis Rheumatoid Associate 37975481
Atherosclerosis Associate 24819318
beta Thalassemia Associate 33368182
Breast Neoplasms Associate 18053161, 20126619, 27629257
Breast Neoplasms Inhibit 24519062
Carcinogenesis Associate 16610031, 24921656
Carcinoma Basal Cell Associate 34524611
Carcinoma Ductal Associate 20126619