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    KLF12 KLF transcription factor 12 [ Homo sapiens (human) ]

    Gene ID: 11278, updated on 26-Nov-2024

    Summary

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    Official Symbol
    KLF12provided by HGNC
    Official Full Name
    KLF transcription factor 12provided by HGNC
    Primary source
    HGNC:HGNC:6346
    See related
    Ensembl:ENSG00000118922 MIM:607531; AllianceGenome:HGNC:6346
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AP2REP; AP-2rep; HSPC122
    Summary
    Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.4), spleen (RPKM 4.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLF12 in Genome Data Viewer
    Location:
    13q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (73686089..74306045, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (72907694..73528039, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (74260226..74880182, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128966561 Neighboring gene long intergenic non-protein coding RNA 393 Neighboring gene uncharacterized LOC105370256 Neighboring gene long intergenic non-protein coding RNA 392 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:74214267-74214908 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:74214909-74215550 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:74289066-74290265 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:74305638-74306208 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:74340128-74340628 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:74341622-74342257 Neighboring gene uncharacterized LOC124903182 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33299 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33300 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33301 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7817 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:74609849-74610779 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:74610780-74611709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7820 Neighboring gene NANOG hESC enhancer GRCh37_chr13:74749652-74750153 Neighboring gene Sharpr-MPRA regulatory region 11269 Neighboring gene HNF1 motif-containing MPRA enhancer 52 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:74815323-74815876 Neighboring gene long intergenic non-protein coding RNA 402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:74861026-74861526 Neighboring gene Sharpr-MPRA regulatory region 2285 Neighboring gene uncharacterized LOC105370259 Neighboring gene NANOG hESC enhancer GRCh37_chr13:74875892-74876393 Neighboring gene RNY1 pseudogene 5 Neighboring gene uncharacterized LOC100288208 Neighboring gene ribosomal protein L21 pseudogene 108

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Krüppel-like factor 12 negatively regulates human endometrial stromal cell decidualization. Shen X, et al. Biochem Biophys Res Commun, 2013 Mar 29. PMID 23458459
    2. Tumour-suppression function of KLF12 through regulation of anoikis. Godin-Heymann N, et al. Oncogene, 2016 Jun 23. PMID 26455320, Free PMC Article
    3. No evidence of association of the KLF12 gene with rheumatoid arthritis in Spanish and Dutch cohorts and a meta-analysis of published data. García-Bermúdez M, et al. Hum Immunol, 2011 Sep. PMID 21658422
    4. No evidence for association of the KLF12 gene with rheumatoid arthritis in a large UK cohort. Eyre S, et al. Ann Rheum Dis, 2010 Jul. PMID 19907058
    5. Krüppel-like factor 12 plays a significant role in poorly differentiated gastric cancer progression. Nakamura Y, et al. Int J Cancer, 2009 Oct 15. PMID 19588488

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLF12 transcriptionally regulates PD-L1 expression in non-small cell lung cancer.
      Title: KLF12 transcriptionally regulates PD-L1 expression in non-small cell lung cancer.
    2. Circ_0084188 promotes colorectal cancer progression by sponging miR-654-3p and regulating kruppel-like factor 12.
      Title: Circ_0084188 promotes colorectal cancer progression by sponging miR-654-3p and regulating kruppel-like factor 12.
    3. Kruppel-like factor 12 regulates aging ovarian granulosa cell apoptosis by repressing SPHK1 transcription and sphingosine-1-phosphate (S1P) production.
      Title: Krüppel-like factor 12 regulates aging ovarian granulosa cell apoptosis by repressing SPHK1 transcription and sphingosine-1-phosphate (S1P) production.
    4. MiR-17-5p promoter methylation regulated by DNA methyltransferase 3 beta (DNMT3B) expedites endometriosis via the Kruppel-like factor 12 (KLF12)/Wnt/beta-catenin axis.
      Title: MiR-17-5p promoter methylation regulated by DNA methyltransferase 3 beta (DNMT3B) expedites endometriosis via the Krüppel-like factor 12 (KLF12)/Wnt/β-catenin axis.
    5. KLF12 promotes the proliferation of breast cancer cells by reducing the transcription of p21 in a p53-dependent and p53-independent manner.
      Title: KLF12 promotes the proliferation of breast cancer cells by reducing the transcription of p21 in a p53-dependent and p53-independent manner.
    6. MicroRNA-650 suppresses KLF12 expression to regulate growth and metastasis of human ovarian cancer cells.
      Title: MicroRNA-650 suppresses KLF12 expression to regulate growth and metastasis of human ovarian cancer cells.
    7. Potentiated lung adenocarcinoma (LUAD) cell growth, migration and invasion by lncRNA DARS-AS1 via miR-188-5p/ KLF12 axis.
      Title: Potentiated lung adenocarcinoma (LUAD) cell growth, migration and invasion by lncRNA DARS-AS1 via miR-188-5p/ KLF12 axis.
    8. Circ-RNF111 aggravates the malignancy of gastric cancer through miR-876-3p-dependent regulation of KLF12.
      Title: Circ-RNF111 aggravates the malignancy of gastric cancer through miR-876-3p-dependent regulation of KLF12.
    9. Knockdown of circ_0075503 suppresses cell migration and invasion by regulating miR-15a-5p and KLF12 in endometriosis.
      Title: Knockdown of circ_0075503 suppresses cell migration and invasion by regulating miR-15a-5p and KLF12 in endometriosis.
    10. Circ_0005273 induces the aggravation of pancreatic cancer by targeting KLF12.
      Title: Circ_0005273 induces the aggravation of pancreatic cancer by targeting KLF12.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog
    A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
    EBI GWAS Catalog
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    Krueppel-like factor 12
    Names
    AP-2 repressor
    AP-2rep transcription factor
    KLF12 zinc finger transcriptional repressor
    Kruppel like factor 12
    transcriptional repressor AP-2rep

    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.

    mRNA and Protein(s)

    1. NM_001400136.1 → NP_001387065.1  Krueppel-like factor 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319
      Consensus CDS
      CCDS9449.1
      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4
      Related
      ENSP00000515592.1, ENST00000703967.1

    2. NM_001400139.1 → NP_001387068.1  Krueppel-like factor 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL353660
      Consensus CDS
      CCDS9449.1
      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4

    3. NM_001400141.1 → NP_001387070.1  Krueppel-like factor 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032
      Consensus CDS
      CCDS9449.1
      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4

    4. NM_001400146.1 → NP_001387075.1  Krueppel-like factor 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319

    5. NM_001400147.1 → NP_001387076.1  Krueppel-like factor 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL159972, AL160032, AL356319

    6. NM_001400148.1 → NP_001387077.1  Krueppel-like factor 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL159972, AL160032, AL356319

    7. NM_001400149.1 → NP_001387078.1  Krueppel-like factor 12 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319

    8. NM_001400150.1 → NP_001387079.1  Krueppel-like factor 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319

    9. NM_001400151.1 → NP_001387080.1  Krueppel-like factor 12 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319

    10. NM_001400152.1 → NP_001387081.1  Krueppel-like factor 12 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL356319

    11. NM_001400153.1 → NP_001387082.1  Krueppel-like factor 12 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL138713, AL139036, AL159972, AL160032, AL353660

    12. NM_007249.5 → NP_009180.3  Krueppel-like factor 12 isoform 1

      See identical proteins and their annotated locations for NP_009180.3

      Status: VALIDATED

      Source sequence(s)
      AF330041, AL160032, AL356319, DB125574
      Consensus CDS
      CCDS9449.1
      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4
      UniProtKB/TrEMBL
      Q8WWI3
      Related
      ENSP00000366897.2, ENST00000377669.7
      Conserved Domains (4) summary
      COG5048
      Location:228 → 401
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:319 → 341
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:363 → 388
      zf-H2C2_2; Zinc-finger double domain
      cd21441
      Location:27 → 224
      KLF12_N; N-terminal domain of Kruppel-like factor 12

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      73686089..74306045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534909.3 → XP_011533211.1  Krueppel-like factor 12 isoform X3

      See identical proteins and their annotated locations for XP_011533211.1

      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4
      UniProtKB/TrEMBL
      Q8WWI3
      Conserved Domains (4) summary
      COG5048
      Location:228 → 401
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:319 → 341
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:363 → 388
      zf-H2C2_2; Zinc-finger double domain
      cd21441
      Location:27 → 224
      KLF12_N; N-terminal domain of Kruppel-like factor 12

    2. XM_047430082.1 → XP_047286038.1  Krueppel-like factor 12 isoform X5

    3. XM_047430083.1 → XP_047286039.1  Krueppel-like factor 12 isoform X6

    4. XM_047430084.1 → XP_047286040.1  Krueppel-like factor 12 isoform X6

    5. XM_011534907.3 → XP_011533209.1  Krueppel-like factor 12 isoform X1

      UniProtKB/TrEMBL
      Q8WWI3
      Conserved Domains (4) summary
      COG5048
      Location:241 → 414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:332 → 354
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:330 → 354
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:376 → 401
      zf-H2C2_2; Zinc-finger double domain

    6. XM_011534908.4 → XP_011533210.1  Krueppel-like factor 12 isoform X2

      UniProtKB/TrEMBL
      Q8WWI3
      Conserved Domains (2) summary
      sd00017
      Location:332 → 354
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:330 → 354
      zf-C2H2; Zinc finger, C2H2 type

    7. XM_011534910.3 → XP_011533212.1  Krueppel-like factor 12 isoform X4

      UniProtKB/TrEMBL
      Q8WWI3
      Conserved Domains (4) summary
      COG5048
      Location:226 → 399
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:317 → 339
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:361 → 386
      zf-H2C2_2; Zinc-finger double domain
      cd21441
      Location:25 → 222
      KLF12_N; N-terminal domain of Kruppel-like factor 12

    8. XM_011534911.3 → XP_011533213.1  Krueppel-like factor 12 isoform X6

      See identical proteins and their annotated locations for XP_011533213.1

      UniProtKB/TrEMBL
      Q8WWI3
      Conserved Domains (4) summary
      COG5048
      Location:209 → 382
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:300 → 322
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:344 → 369
      zf-H2C2_2; Zinc-finger double domain
      cd21441
      Location:8 → 205
      KLF12_N; N-terminal domain of Kruppel-like factor 12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      72907694..73528039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374085.1 → XP_054230060.1  Krueppel-like factor 12 isoform X3

      UniProtKB/Swiss-Prot
      A8K5T2, L0R3J4, Q5VZM7, Q9UHZ0, Q9Y4X4

    2. XM_054374087.1 → XP_054230062.1  Krueppel-like factor 12 isoform X5

    3. XM_054374089.1 → XP_054230064.1  Krueppel-like factor 12 isoform X6

    4. XM_054374090.1 → XP_054230065.1  Krueppel-like factor 12 isoform X6

    5. XM_054374083.1 → XP_054230058.1  Krueppel-like factor 12 isoform X1

    6. XM_054374084.1 → XP_054230059.1  Krueppel-like factor 12 isoform X2

    7. XM_054374086.1 → XP_054230061.1  Krueppel-like factor 12 isoform X4

    8. XM_054374088.1 → XP_054230063.1  Krueppel-like factor 12 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016285.2: Suppressed sequence

      Description
      NM_016285.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4X4.2 GenPept UniProtKB/Swiss-Prot:Q9Y4X4

    Gene LinkOut

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

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