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KLF14 Kruppel like factor 14 [ Homo sapiens (human) ]

Gene ID: 136259, updated on 10-Oct-2019

Summary

Official Symbol
KLF14provided by HGNC
Official Full Name
Kruppel like factor 14provided by HGNC
Primary source
HGNC:HGNC:23025
See related
Ensembl:ENSG00000266265 MIM:609393
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

Genomic context

See KLF14 in Genome Data Viewer
Location:
7q32.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (130732554..130734033, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130417382..130418860, 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 testis specific 13 Neighboring gene uncharacterized LOC105375508 Neighboring gene uncharacterized LOC105375509 Neighboring gene armadillo repeat containing X-linked 2 pseudogene Neighboring gene zinc finger protein 131 pseudogene

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

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_016152.2 RefSeqGene

    Range
    5095..6574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138693.3NP_619638.2  Krueppel-like factor 14

    Status: REVIEWED

    Source sequence(s)
    AC234644
    Consensus CDS
    CCDS5825.1
    UniProtKB/TrEMBL
    A0A075B756
    Related
    ENSP00000463287.1, ENST00000583337.3
    Conserved Domains (2) summary
    COG5048
    Location:198283
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:200219
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    130732554..130734033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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