Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1316
Gene name Gene Name - the full gene name approved by the HGNC.
KLF transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLF6
Synonyms (NCBI Gene) Gene synonyms aliases
BCD1, CBA1, COPEB, CPBP, GBF, PAC1, ST12, ZF9
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006939 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 22581522
MIRT006939 hsa-miR-181a-5p Luciferase reporter assay, qRT-PCR, Western blot 22581522
MIRT022229 hsa-miR-124-3p Microarray 18668037
Transcription factors
Transcription factor Regulation Reference
NR1I2 Activation 21072196
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 18755691
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 ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602053 2235 ENSG00000067082
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
Glioma Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
Prostate cancer Malignant neoplasm of prostate, PROSTATE CANCER, SOMATIC rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Crohn Disease Crohn Disease GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Dementia Dementia GWAS
Associations from Text Mining
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