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

    Gene ID: 136259, updated on 2-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See KLF14 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130730697..130734207, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (132044973..132048483, complement)
    RS_2024_09 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    General gene information

    Markers

    Gene Ontology Provided by GOA

    General protein information

    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)

    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_138693.4NP_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:198283
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:200219
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd21576
      Location:2196
      KLF14_N; N-terminal domain of Kruppel-like factor 14

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)