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 p... See more...

Aliases for KLF12 Gene

Aliases for KLF12 Gene

  • Kruppel Like Factor 12 2 3 5
  • KLF12 Zinc Finger Transcriptional Repressor 2 3
  • Transcriptional Repressor AP-2rep 3 4
  • AP-2rep Transcription Factor 2 3
  • Krueppel-Like Factor 12 3 4
  • AP-2 Repressor 2 3
  • AP2REP 3 4
  • AP-2rep 3
  • HSPC122 3

External Ids for KLF12 Gene

Previous GeneCards Identifiers for KLF12 Gene

  • GC13M072227
  • GC13M068255
  • GC13M073196
  • GC13M072058
  • GC13M073158
  • GC13M074260
  • GC13M054957

Summaries for KLF12 Gene

Entrez Gene Summary for KLF12 Gene

  • 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]

GeneCards Summary for KLF12 Gene

KLF12 (Kruppel Like Factor 12) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is KLF8.

UniProtKB/Swiss-Prot Summary for KLF12 Gene

  • Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter.

Gene Wiki entry for KLF12 Gene

Additional gene information for KLF12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLF12 Gene

Genomics for KLF12 Gene

GeneHancer (GH) Regulatory Elements for KLF12 Gene

Promoters and enhancers for KLF12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J074127 Promoter/Enhancer 2.3 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 523.7 +35.7 35733 9.4 ZBTB40 EP300 SIN3A USF1 ZNF639 ZIC2 POLR2A ZBTB10 ZNF423 ZBTB26 KLF12 lnc-KLF12-4 lnc-KLF5-16
GH13J074024 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas dbSUPER 504.5 +141.7 141662 3.6 USF1 TCF7 MEF2C RCOR1 TRIM22 TEAD1 TBX3 HDAC2 TCF12 POLR2A KLF12 lnc-KLF12-5 piR-43107-084
GH13J074168 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 500.7 -0.3 -332 0.6 FOXA2 NR2F2 ZBTB33 JUND FOXP1 RAD21 RXRA CEBPB MAX KDM1A KLF12 LINC00402
GH13J074306 Promoter/Enhancer 1.1 EPDnew Ensembl 500.1 -138.3 -138332 1.4 JUND ZNF639 CTCF TRIM28 ATF2 OSR2 WT1 TCF7L2 ZNF335 ZNF843 lnc-KLF12-7 KLF12 ENSG00000286330-001 piR-61240-088 LINC00402
GH13J073933 Enhancer 1.1 FANTOM5 Ensembl ENCODE 14.8 +234.2 234168 3.6 JUND ZNF623 ZNF510 FOSL2 ZBTB11 ZNF426 ZNF213 EP300 BCL11B ZFP64 KLF12 piR-43107-084 piR-52079-051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLF12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLF12

Top Transcription factor binding sites by QIAGEN in the KLF12 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for KLF12 Gene

Genomic Locations for KLF12 Gene
chr13:73,686,012-74,168,169
(GRCh38/hg38)
Size:
482,158 bases
Orientation:
Minus strand
chr13:74,260,149-74,708,394
(GRCh37/hg19)
Size:
448,246 bases
Orientation:
Minus strand

Genomic View for KLF12 Gene

Genes around KLF12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLF12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLF12 Gene

Proteins for KLF12 Gene

  • Protein details for KLF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4X4-KLF12_HUMAN
    Recommended name:
    Krueppel-like factor 12
    Protein Accession:
    Q9Y4X4
    Secondary Accessions:
    • A8K5T2
    • L0R3J4
    • Q5VZM7
    • Q9UHZ0

    Protein attributes for KLF12 Gene

    Size:
    402 amino acids
    Molecular mass:
    44240 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KLF12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLF12 Gene

Post-translational modifications for KLF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLF12 Gene

Domains & Families for KLF12 Gene

Gene Families for KLF12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for KLF12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLF12 Gene

GenScript: Design optimal peptide antigens:
  • Transcriptional repressor AP-2rep (KLF12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4X4

UniProtKB/Swiss-Prot:

KLF12_HUMAN :
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. In KLF12, the motif is inactive.
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Domain:
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. In KLF12, the motif is inactive.
Family:
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with KLF12: view

Function for KLF12 Gene

Molecular function for KLF12 Gene

UniProtKB/Swiss-Prot Function:
Confers strong transcriptional repression to the AP-2-alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter.

Phenotypes From GWAS Catalog for KLF12 Gene

Gene Ontology (GO) - Molecular Function for KLF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 16615998
genes like me logo Genes that share ontologies with KLF12: view
genes like me logo Genes that share phenotypes with KLF12: view

Animal Models for KLF12 Gene

MGI Knock Outs for KLF12:
  • Klf12 Klf12<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Transcription Factor Targets for KLF12 Gene

Selected GeneGlobe predicted Target genes for KLF12

Clone Products

  • Addgene plasmids for KLF12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for KLF12 Gene

Localization for KLF12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLF12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLF12 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KLF12: view

Pathways & Interactions for KLF12 Gene

PathCards logo

SuperPathways for KLF12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 16615998
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS,IBA 21873635
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with KLF12: view

No data available for Pathways by source and SIGNOR curated interactions for KLF12 Gene

Drugs & Compounds for KLF12 Gene

(1) Drugs for KLF12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KLF12: view

Transcripts for KLF12 Gene

mRNA/cDNA for KLF12 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for KLF12

Alternative Splicing Database (ASD) splice patterns (SP) for KLF12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6:
SP7:

Relevant External Links for KLF12 Gene

GeneLoc Exon Structure for
KLF12

Expression for KLF12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLF12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLF12 Gene

This gene is overexpressed in CD8 Tcells (28.2), Tlymphocyte (27.0), Blymphocyte (6.6), and NK cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLF12 Gene



Protein tissue co-expression partners for KLF12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLF12

SOURCE GeneReport for Unigene cluster for KLF12 Gene:

Hs.373857

Evidence on tissue expression from TISSUES for KLF12 Gene

  • Nervous system(4.7)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with KLF12: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLF12 Gene

Orthologs for KLF12 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLF12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLF12 31 30
  • 99.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLF12 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLF12 31 30
  • 95.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLF12 31 30
  • 94.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klf12 17 31 30
  • 90.63 (n)
rat
(Rattus norvegicus)
Mammalia Klf12 30
  • 90.05 (n)
chicken
(Gallus gallus)
Aves KLF12 31 30
  • 83.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLF12 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klf12 30
  • 79.98 (n)
zebrafish
(Danio rerio)
Actinopterygii klf12b 31 30
  • 71.27 (n)
OneToMany
klf12a 31
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9895 32
  • 80 (a)
CG12029 32
  • 72 (a)
CG42741 31
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F56F11.3 32
  • 73 (a)
mua-1 32
  • 60 (a)
F53F8.1 32
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for KLF12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLF12 Gene

ENSEMBL:
Gene Tree for KLF12 (if available)
TreeFam:
Gene Tree for KLF12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLF12: view image

Paralogs for KLF12 Gene

(10) SIMAP similar genes for KLF12 Gene using alignment to 1 proteins:

  • KLF12_HUMAN
genes like me logo Genes that share paralogs with KLF12: view

Variants for KLF12 Gene

Additional dbSNP identifiers (rs#s) for KLF12 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLF12 Gene

Variant ID Type Subtype PubMed ID
dgv115e215 CNV deletion 23714750
esv1702957 CNV deletion 17803354
esv2248184 CNV deletion 18987734
esv2475756 CNV deletion 19546169
esv2657851 CNV deletion 23128226
esv2666233 CNV deletion 23128226
esv2747644 CNV deletion 23290073
esv2747645 CNV deletion 23290073
esv2747646 CNV deletion 23290073
esv2747647 CNV deletion 23290073
esv2747648 CNV deletion 23290073
esv2747649 CNV deletion 23290073
esv2747650 CNV deletion 23290073
esv2747651 CNV deletion 23290073
esv3302780 CNV tandem duplication 20981092
esv3331983 CNV insertion 20981092
esv34103 CNV loss 18971310
esv3580766 CNV loss 25503493
esv3580767 CNV loss 25503493
esv3632715 CNV loss 21293372
esv3632717 CNV loss 21293372
esv3892391 CNV loss 25118596
nsv1069761 CNV deletion 25765185
nsv1086 CNV insertion 18451855
nsv1120037 CNV deletion 24896259
nsv1133195 CNV tandem duplication 24896259
nsv1138237 CNV deletion 24896259
nsv1138238 CNV deletion 24896259
nsv562343 CNV gain 21841781
nsv562344 CNV loss 21841781

Variation tolerance for KLF12 Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLF12 Gene

Human Gene Mutation Database (HGMD)
KLF12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLF12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLF12 Gene

Disorders for KLF12 Gene

Additional Disease Information for KLF12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KLF12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLF12 Gene

Publications for KLF12 Gene

  1. Genomic structure and DNA binding properties of the human zinc finger transcriptional repressor AP-2rep (KLF12). (PMID: 10704285) Roth C … Buettner R (Genomics 2000) 2 3 4 23 54
  2. Shaking the family tree: identification of novel and biologically active alternatively spliced isoforms across the KLF family of transcription factors. (PMID: 23134681) Camacho-Vanegas O … Martignetti JA (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013) 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PMID: 21076409) Sotoodehnia N … Arking DE (Nature genetics 2010) 3 41 54
  5. A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. (PMID: 20049410) Wieczorek S … Epplen JT (Journal of molecular medicine (Berlin, Germany) 2010) 3 41 54

Products for KLF12 Gene

Sources for KLF12 Gene