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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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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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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.

Chemical Information
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