The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008] See more...

Aliases for POGK Gene

Aliases for POGK Gene

  • Pogo Transposable Element Derived With KRAB Domain 2 3 5
  • Pogo Transposable Element With KRAB Domain 2 3 4
  • KRAB Box Domain Containing 2 2 3
  • KRBOX2 2 3
  • LST003 2 3
  • BASS2 2 3
  • KIAA15131 2
  • KIAA1513 4
  • POGK 5

External Ids for POGK Gene

Previous GeneCards Identifiers for POGK Gene

  • GC01P164443
  • GC01P162459
  • GC01P163504
  • GC01P163996
  • GC01P163540
  • GC01P165075
  • GC01P138055

Summaries for POGK Gene

Entrez Gene Summary for POGK Gene

  • The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]

GeneCards Summary for POGK Gene

POGK (Pogo Transposable Element Derived With KRAB Domain) is a Protein Coding gene. Diseases associated with POGK include Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 and Cervical Adenosquamous Carcinoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is POGZ.

Additional gene information for POGK Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POGK Gene

Genomics for POGK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POGK 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
GH01J166838 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.4 446 3.4 GATAD2A CTCF HNRNPL REST TFE3 LEF1 IKZF1 NFKBIZ ZNF692 POLR2A POGK POU2F1 DUTP6 ENSG00000215835 TADA1
GH01J166858 Enhancer 0.6 FANTOM5 Ensembl 1.6 +19.6 19567 0.4 SCRT2 ZFHX2 EGR2 DUTP6 POU2F1 POGK TADA1
GH01J166874 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 +36.4 36354 2.8 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 LEF1 TADA1 MAEL ENSG00000215835 POU2F1 ILDR2 lnc-POGK-1 POGK
GH01J166844 Enhancer 0.3 Ensembl 0.7 +4.7 4654 0.2 PRDM10 REST POGK DUTP6 TADA1
GH01J166868 Enhancer 0.4 Ensembl 0.3 +29.5 29454 0.2 CEBPA CEBPB HLF DUTP6 lnc-POGK-1 MAEL ENSG00000227907 TADA1 POGK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POGK on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the POGK gene promoter:
  • ATF6
  • c-Rel
  • Evi-1
  • FOXO4
  • Ik-1
  • Msx-1
  • NF-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for POGK Gene

Genomic Locations for POGK Gene
chr1:166,839,447-166,856,359
(GRCh38/hg38)
Size:
16,913 bases
Orientation:
Plus strand
chr1:166,808,681-166,825,581
(GRCh37/hg19)
Size:
16,901 bases
Orientation:
Plus strand

Genomic View for POGK Gene

Genes around POGK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POGK Gene

Proteins for POGK Gene

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

    Protein Symbol:
    Q9P215-POGK_HUMAN
    Recommended name:
    Pogo transposable element with KRAB domain
    Protein Accession:
    Q9P215
    Secondary Accessions:
    • Q5TIJ1
    • Q8TE07

    Protein attributes for POGK Gene

    Size:
    609 amino acids
    Molecular mass:
    69444 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM12422.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA96037.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for POGK Gene

Post-translational modifications for POGK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POGK Gene

Domains & Families for POGK Gene

Gene Families for POGK Gene

Protein Domains for POGK Gene

Suggested Antigen Peptide Sequences for POGK Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58256, highly similar to Pogo transposable element with KRAB domain (B4DS22_HUMAN)
  • Pogo transposable element with KRAB domain (POGK_HUMAN)
  • cDNA FLJ32149 fis, clone PLACE5000159, highly similar to Pogo transposable element with KRAB domain (Q5TIJ1_HUMAN)
genes like me logo Genes that share domains with POGK: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POGK Gene

Function for POGK Gene

Phenotypes From GWAS Catalog for POGK Gene

Gene Ontology (GO) - Molecular Function for POGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IBA 21873635
GO:0005515 protein binding IPI 22939624
genes like me logo Genes that share ontologies with POGK: view
genes like me logo Genes that share phenotypes with POGK: view

Animal Model Products

CRISPR Products

miRNA for POGK Gene

miRTarBase miRNAs that target POGK

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGK

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POGK Gene

Localization for POGK Gene

Subcellular locations from UniProtKB/Swiss-Prot for POGK 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 POGK gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with POGK: view

Pathways & Interactions for POGK Gene

PathCards logo

SuperPathways for POGK Gene

No Data Available

Gene Ontology (GO) - Biological Process for POGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with POGK: view

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

Drugs & Compounds for POGK Gene

No Compound Related Data Available

Transcripts for POGK Gene

mRNA/cDNA for POGK Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGK

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8
SP1: - -
SP2: -
SP3: - - - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - -

Relevant External Links for POGK Gene

GeneLoc Exon Structure for
POGK

Expression for POGK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POGK Gene

This gene is overexpressed in Blymphocyte (15.3), Monocytes (14.3), Peripheral blood mononuclear cells (12.5), Retina (9.6), CD8 Tcells (7.4), and Placenta (6.5).

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



Protein tissue co-expression partners for POGK Gene

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

SOURCE GeneReport for Unigene cluster for POGK Gene:

Hs.432752

Evidence on tissue expression from TISSUES for POGK Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with POGK: 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 POGK Gene

Orthologs for POGK Gene

This gene was present in the common ancestor of animals.

Orthologs for POGK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POGK 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POGK 30 31
  • 88.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POGK 30 31
  • 88.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pogk 30
  • 87.82 (n)
Mouse
(Mus musculus)
Mammalia Pogk 30 17 31
  • 87.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POGK 31
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 41 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
-- 31
  • 21 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495328 30
  • 47.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101887057 30
  • 46.74 (n)
POGK (3 of 3) 31
  • 31 (a)
OneToMany
POGK (1 of 3) 31
  • 31 (a)
OneToMany
POGK (2 of 3) 31
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea W02H5.4 30 31
  • 43.21 (n)
OneToOne
Species where no ortholog for POGK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 POGK Gene

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

Paralogs for POGK Gene

Paralogs for POGK Gene

(10) SIMAP similar genes for POGK Gene using alignment to 4 proteins:

  • POGK_HUMAN
  • B4DS22_HUMAN
  • G3V1P0_HUMAN
  • Q5TIJ2_HUMAN

Pseudogenes.org Pseudogenes for POGK Gene

genes like me logo Genes that share paralogs with POGK: view

Variants for POGK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POGK Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
783953 Benign: not provided 166,849,449(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for POGK Gene

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

Variant ID Type Subtype PubMed ID
nsv1078878 OTHER inversion 25765185

Variation tolerance for POGK Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POGK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POGK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POGK Gene

Disorders for POGK Gene

MalaCards: The human disease database

(2) MalaCards diseases for POGK Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search POGK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POGK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with POGK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POGK Gene

Publications for POGK Gene

  1. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. KAP1 facilitates reinstatement of heterochromatin after DNA replication. (PMID: 29955894) Jang SM … Trono D (Nucleic acids research 2018) 3

Products for POGK Gene

  • Signalway ELISA kits for POGK

Sources for POGK Gene