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KLF12 Kruppel like factor 12 [ Homo sapiens (human) ]

Gene ID: 11278, updated on 12-Sep-2021

Summary

Official Symbol
KLF12provided by HGNC
Official Full Name
Kruppel like factor 12provided by HGNC
Primary source
HGNC:HGNC:6346
See related
Ensembl:ENSG00000118922 MIM:607531
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
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Genomic context

See KLF12 in Genome Data Viewer
Location:
13q22.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (73686089..74168295, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (74260226..74708066, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 393 Neighboring gene uncharacterized LOC107984024 Neighboring gene long intergenic non-protein coding RNA 392 Neighboring gene uncharacterized LOC105370256 Neighboring gene Sharpr-MPRA regulatory region 11269 Neighboring gene HNF1 motif-containing MPRA enhancer 52

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
GeneReviews: Not available
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
GeneReviews: Not available
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
GeneReviews: Not available
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
GeneReviews: Not available
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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

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.

mRNA and Protein(s)

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

    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
    Q9Y4X4
    UniProtKB/TrEMBL
    Q8WWI3
    Related
    ENSP00000366897.2, ENST00000377669.7
    Conserved Domains (4) summary
    COG5048
    Location:228401
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319341
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:363388
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:27224
    KLF12_N; N-terminal domain of Kruppel-like factor 12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    73686089..74168295 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534912.2XP_011533214.1  Krueppel-like factor 12 isoform X6

    See identical proteins and their annotated locations for XP_011533214.1

    Conserved Domains (4) summary
    COG5048
    Location:209382
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:300322
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:344369
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:8205
    KLF12_N; N-terminal domain of Kruppel-like factor 12
  2. XM_011534907.2XP_011533209.1  Krueppel-like factor 12 isoform X1

    Conserved Domains (4) summary
    COG5048
    Location:241414
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332354
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330354
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:376401
    zf-H2C2_2; Zinc-finger double domain
  3. XM_017020385.1XP_016875874.1  Krueppel-like factor 12 isoform X7

    Conserved Domains (4) summary
    COG5048
    Location:178351
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:269291
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:313338
    zf-H2C2_2; Zinc-finger double domain
    cl40450
    Location:1174
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  4. XM_011534911.2XP_011533213.1  Krueppel-like factor 12 isoform X6

    See identical proteins and their annotated locations for XP_011533213.1

    Conserved Domains (4) summary
    COG5048
    Location:209382
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:300322
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:344369
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:8205
    KLF12_N; N-terminal domain of Kruppel-like factor 12
  5. XM_011534909.2XP_011533211.1  Krueppel-like factor 12 isoform X3

    See identical proteins and their annotated locations for XP_011533211.1

    UniProtKB/Swiss-Prot
    Q9Y4X4
    Conserved Domains (4) summary
    COG5048
    Location:228401
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319341
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:363388
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:27224
    KLF12_N; N-terminal domain of Kruppel-like factor 12
  6. XM_005266251.4XP_005266308.1  Krueppel-like factor 12 isoform X3

    See identical proteins and their annotated locations for XP_005266308.1

    UniProtKB/Swiss-Prot
    Q9Y4X4
    Conserved Domains (4) summary
    COG5048
    Location:228401
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319341
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:363388
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:27224
    KLF12_N; N-terminal domain of Kruppel-like factor 12
  7. XM_011534910.2XP_011533212.1  Krueppel-like factor 12 isoform X4

    Conserved Domains (4) summary
    COG5048
    Location:226399
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:317339
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:361386
    zf-H2C2_2; Zinc-finger double domain
    cd21441
    Location:25222
    KLF12_N; N-terminal domain of Kruppel-like factor 12
  8. XM_017020384.1XP_016875873.1  Krueppel-like factor 12 isoform X5

  9. XM_011534908.3XP_011533210.1  Krueppel-like factor 12 isoform X2

    Conserved Domains (2) summary
    sd00017
    Location:332354
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330354
    zf-C2H2; Zinc finger, C2H2 type

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.
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