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    KLF14 KLF transcription factor 14 [ Homo sapiens (human) ]

    Gene ID: 136259, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KLF14provided by HGNC
    Official Full Name
    KLF transcription factor 14provided by HGNC
    Primary source
    HGNC:HGNC:23025
    See related
    Ensembl:ENSG00000266265 MIM:609393; AllianceGenome:HGNC:23025
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTEB5
    Summary
    This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]
    Orthologs
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    Genomic context

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    See KLF14 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130730697..130734207, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (132044973..132048483, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130415525..130418967, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit gamma 2 Neighboring gene RNA, 5S ribosomal pseudogene 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18648 Neighboring gene NANOG hESC enhancer GRCh37_chr7:130361154-130361710 Neighboring gene testis specific 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130418105-130418642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18650 Neighboring gene uncharacterized LOC105375508 Neighboring gene uncharacterized LOC105375509 Neighboring gene armadillo repeat containing X-linked 2 pseudogene Neighboring gene H4 histone pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Biochemical association of regulatory variant of KLF14 genotype in the pathogenesis of cardiodiabetic patients. Alanazi AS, et al. Front Endocrinol (Lausanne), 2023. PMID 37351102, Free PMC Article
    2. Determining KLF14 tertiary structure and diagnostic significance in brain cancer progression. Zahra K, et al. Sci Rep, 2022 May 16. PMID 35577881, Free PMC Article
    3. Differential Genetic and Epigenetic Effects of the KLF14 Gene on Body Shape Indices and Metabolic Traits. Wu S, et al. Int J Mol Sci, 2022 Apr 9. PMID 35456983, Free PMC Article
    4. The KLF14 Variant is Associated with Type 2 Diabetes and HbA(1C) Level. Shahvazian E, et al. Biochem Genet, 2021 Apr. PMID 33389382
    5. Epstein-Barr Virus Facilitates Expression of KLF14 by Regulating the Cooperative Binding of the E2F-Rb-HDAC Complex in Latent Infection. Pei Y, et al. J Virol, 2020 Oct 27. PMID 32847849, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLF14 activates the JNK-signaling pathway to induce S-phase arrest in cervical cancer cells.
      Title: KLF14 activates the JNK-signaling pathway to induce S-phase arrest in cervical cancer cells.
    2. Biochemical association of regulatory variant of KLF14 genotype in the pathogenesis of cardiodiabetic patients.
      Title: Biochemical association of regulatory variant of KLF14 genotype in the pathogenesis of cardiodiabetic patients.
    3. KLF14/miR-1283/TFAP2C axis inhibits HER2-positive breast cancer progression via declining tumor cell proliferation.
      Title: KLF14/miR-1283/TFAP2C axis inhibits HER2-positive breast cancer progression via declining tumor cell proliferation.
    4. KLF14 regulates the growth of hepatocellular carcinoma cells via its modulation of iron homeostasis through the repression of iron-responsive element-binding protein 2.
      Title: KLF14 regulates the growth of hepatocellular carcinoma cells via its modulation of iron homeostasis through the repression of iron-responsive element-binding protein 2.
    5. Upregulation of KLF14 expression attenuates kidney fibrosis by inducing PPARalpha-mediated fatty acid oxidation.
      Title: Upregulation of KLF14 expression attenuates kidney fibrosis by inducing PPARα-mediated fatty acid oxidation.
    6. Determining KLF14 tertiary structure and diagnostic significance in brain cancer progression.
      Title: Determining KLF14 tertiary structure and diagnostic significance in brain cancer progression.
    7. Differential Genetic and Epigenetic Effects of the KLF14 Gene on Body Shape Indices and Metabolic Traits.
      Title: Differential Genetic and Epigenetic Effects of the KLF14 Gene on Body Shape Indices and Metabolic Traits.
    8. Kruppel-like factor 14 deletion in myeloid cells accelerates atherosclerotic lesion development.
      Title: Krüppel-like factor 14 deletion in myeloid cells accelerates atherosclerotic lesion development.
    9. EZH2-mediated inhibition of KLF14 expression promotes HSCs activation and liver fibrosis by downregulating PPARgamma.
      Title: EZH2-mediated inhibition of KLF14 expression promotes HSCs activation and liver fibrosis by downregulating PPARγ.
    10. The KLF14 Variant is Associated with Type 2 Diabetes and HbA1C Level.
      Title: The KLF14 Variant is Associated with Type 2 Diabetes and HbA(1C) Level.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of sphingolipid mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Krueppel-like factor 14
    Names
    BTE-binding protein 5
    Kruppel like factor 14
    basic transcription element-binding protein 5
    transcription factor BTEB5

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016152.3 RefSeqGene

      Range
      5001..8511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1039

    mRNA and Protein(s)

    1. NM_138693.4 → NP_619638.2  Krueppel-like factor 14

      Status: REVIEWED

      Source sequence(s)
      AC234644
      Consensus CDS
      CCDS5825.1
      UniProtKB/Swiss-Prot
      A0A075B756, A4D1N0, Q19A42, Q19A43, Q8TD94
      Related
      ENSP00000463287.1, ENST00000583337.4
      Conserved Domains (3) summary
      COG5048
      Location:198 → 283
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:200 → 219
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd21576
      Location:2 → 196
      KLF14_N; N-terminal domain of Kruppel-like factor 14

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130730697..130734207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      132044973..132048483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD94.2 GenPept UniProtKB/Swiss-Prot:Q8TD94

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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