Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto... See more...

Aliases for PKNOX2 Gene

Aliases for PKNOX2 Gene

  • PBX/Knotted 1 Homeobox 2 2 3 5
  • Homeobox Protein PKNOX2 3 4
  • Homeobox Protein PREP-2 3 4
  • PBX/Knotted Homeobox 2 3 4
  • PREP2 3 4

External Ids for PKNOX2 Gene

Previous GeneCards Identifiers for PKNOX2 Gene

  • GC11P127222
  • GC11P126734
  • GC11P125235
  • GC11P124572
  • GC11P124758
  • GC11P124539
  • GC11P125034
  • GC11P120976

Summaries for PKNOX2 Gene

Entrez Gene Summary for PKNOX2 Gene

  • Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]

GeneCards Summary for PKNOX2 Gene

PKNOX2 (PBX/Knotted 1 Homeobox 2) is a Protein Coding gene. Diseases associated with PKNOX2 include Substance Dependence and Hydrolethalus Syndrome 1. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and actin monomer binding. An important paralog of this gene is PKNOX1.

Additional gene information for PKNOX2 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 PKNOX2 Gene

Genomics for PKNOX2 Gene

GeneHancer (GH) Regulatory Elements for PKNOX2 Gene

Promoters and enhancers for PKNOX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKNOX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKNOX2 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • HFH-1
  • LCR-F1
  • MyoD
  • NF-AT
  • NF-AT1
  • Nkx2-5
  • Pax-4a

Genomic Locations for PKNOX2 Gene

Genomic Locations for PKNOX2 Gene
chr11:125,164,663-125,433,389
(GRCh38/hg38)
Size:
268,727 bases
Orientation:
Plus strand
chr11:125,034,559-125,303,285
(GRCh37/hg19)
Size:
268,727 bases
Orientation:
Plus strand

Genomic View for PKNOX2 Gene

Genes around PKNOX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKNOX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKNOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKNOX2 Gene

Proteins for PKNOX2 Gene

  • Protein details for PKNOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KN3-PKNX2_HUMAN
    Recommended name:
    Homeobox protein PKNOX2
    Protein Accession:
    Q96KN3
    Secondary Accessions:
    • B7Z5I5
    • F5GZ15
    • Q63HL6
    • Q86XD1

    Protein attributes for PKNOX2 Gene

    Size:
    472 amino acids
    Molecular mass:
    52028 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB83665.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PKNOX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKNOX2 Gene

Post-translational modifications for PKNOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKNOX2 Gene

No data available for DME Specific Peptides for PKNOX2 Gene

Domains & Families for PKNOX2 Gene

Gene Families for PKNOX2 Gene

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

Protein Domains for PKNOX2 Gene

Suggested Antigen Peptide Sequences for PKNOX2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79167, highly similar to Homeobox protein PKNOX2 (B7ZAF3_HUMAN)
  • PBX/knotted homeobox 2 (PKNX2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KN3

UniProtKB/Swiss-Prot:

PKNX2_HUMAN :
  • Belongs to the TALE/MEIS homeobox family.
Family:
  • Belongs to the TALE/MEIS homeobox family.
genes like me logo Genes that share domains with PKNOX2: view

Function for PKNOX2 Gene

Phenotypes From GWAS Catalog for PKNOX2 Gene

Gene Ontology (GO) - Molecular Function for PKNOX2 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 ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003785 actin monomer binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PKNOX2: view
genes like me logo Genes that share phenotypes with PKNOX2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKNOX2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PKNOX2 Gene

Localization for PKNOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKNOX2 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 PKNOX2 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 2
cytosol 2
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Cytokinetic bridge (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PKNOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IEA --
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with PKNOX2: view

Pathways & Interactions for PKNOX2 Gene

PathCards logo

SuperPathways for PKNOX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PKNOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with PKNOX2: view

No data available for Pathways by source and SIGNOR curated interactions for PKNOX2 Gene

Drugs & Compounds for PKNOX2 Gene

No Compound Related Data Available

Transcripts for PKNOX2 Gene

mRNA/cDNA for PKNOX2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKNOX2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKNOX2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
SP1: -
SP2: - - - -
SP3: - - - - - - - - -
SP4: - - - - -
SP5:
SP6: - - - -
SP7: - -
SP8: - -

Relevant External Links for PKNOX2 Gene

GeneLoc Exon Structure for
PKNOX2
ECgene alternative splicing isoforms for
PKNOX2

Expression for PKNOX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKNOX2 Gene

mRNA differential expression in normal tissues according to GTEx for PKNOX2 Gene

This gene is overexpressed in Brain - Cortex (x5.0) and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for PKNOX2 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKNOX2 Gene



Protein tissue co-expression partners for PKNOX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PKNOX2 Gene:

PKNOX2

SOURCE GeneReport for Unigene cluster for PKNOX2 Gene:

Hs.278564

Evidence on tissue expression from TISSUES for PKNOX2 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with PKNOX2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PKNOX2 Gene

Orthologs for PKNOX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKNOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKNOX2 33 32
  • 99.4 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKNOX2 33
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKNOX2 33 32
  • 96.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pknox2 32
  • 94.7 (n)
cow
(Bos Taurus)
Mammalia PKNOX2 33 32
  • 94.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pknox2 17 33 32
  • 94.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PKNOX2 33
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves PREP2 33
  • 84 (a)
OneToOne
PKNOX2 32
  • 80.07 (n)
lizard
(Anolis carolinensis)
Reptilia PKNOX2 33
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pknox2 32
  • 79.44 (n)
zebrafish
(Danio rerio)
Actinopterygii pknox2 33 32
  • 76.35 (n)
OneToOne
wuft92g05 32
worm
(Caenorhabditis elegans)
Secernentea unc-62 33
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 44 (a)
OneToMany
Cin.3767 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3767 32
Species where no ortholog for PKNOX2 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)
  • 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)
  • 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 PKNOX2 Gene

ENSEMBL:
Gene Tree for PKNOX2 (if available)
TreeFam:
Gene Tree for PKNOX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKNOX2: view image

Paralogs for PKNOX2 Gene

Paralogs for PKNOX2 Gene

(12) SIMAP similar genes for PKNOX2 Gene using alignment to 6 proteins:

  • PKNX2_HUMAN
  • E9PKL2_HUMAN
  • E9PQS4_HUMAN
  • E9PRB6_HUMAN
  • F5GZ15_HUMAN
  • H0YLX0_HUMAN
genes like me logo Genes that share paralogs with PKNOX2: view

Variants for PKNOX2 Gene

Sequence variations from dbSNP and Humsavar for PKNOX2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000001741 -- 125,254,965(+) G/A intron_variant
rs1000003430 -- 125,327,860(+) G/A intron_variant
rs1000025591 -- 125,292,415(+) C/T intron_variant
rs1000034210 -- 125,371,975(+) T/C intron_variant
rs1000057855 -- 125,366,843(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PKNOX2 Gene

Variant ID Type Subtype PubMed ID
dgv1291n100 CNV loss 25217958
dgv1292n100 CNV loss 25217958
dgv1293n100 CNV loss 25217958
dgv1294n100 CNV gain+loss 25217958
dgv150e201 CNV deletion 23290073
dgv2188n54 CNV loss 21841781
dgv2189n54 CNV loss 21841781
dgv2190n54 CNV loss 21841781
dgv2191n54 CNV loss 21841781
dgv2192n54 CNV loss 21841781
dgv2193n54 CNV loss 21841781
dgv421e212 CNV loss 25503493
dgv734n106 CNV deletion 24896259
dgv83n21 CNV loss 19592680
esv1454607 CNV deletion 17803354
esv21773 CNV loss 19812545
esv23228 CNV loss 19812545
esv2659940 CNV deletion 23128226
esv2668431 CNV deletion 23128226
esv2674182 CNV deletion 23128226
esv2745195 CNV deletion 23290073
esv2745198 CNV deletion 23290073
esv2745200 CNV deletion 23290073
esv2745201 CNV deletion 23290073
esv2745202 CNV deletion 23290073
esv2745203 CNV deletion 23290073
esv2759869 CNV loss 17122850
esv2760455 CNV loss 21179565
esv3438349 CNV insertion 20981092
esv3548469 CNV deletion 23714750
esv3548470 CNV deletion 23714750
esv3579946 CNV loss 25503493
esv3579950 CNV loss 25503493
esv3579951 CNV loss 25503493
esv3627991 CNV loss 21293372
esv3627993 CNV loss 21293372
esv988520 CNV deletion 20482838
nsv1048315 CNV loss 25217958
nsv1054444 CNV gain 25217958
nsv1070993 CNV deletion 25765185
nsv1135789 CNV deletion 24896259
nsv1140493 CNV tandem duplication 24896259
nsv1145574 CNV deletion 24896259
nsv1147530 CNV deletion 26484159
nsv1152458 CNV deletion 26484159
nsv38673 CNV deletion 16902084
nsv468885 CNV loss 19166990
nsv468887 CNV loss 19166990
nsv472684 CNV novel sequence insertion 20440878
nsv476641 CNV novel sequence insertion 20440878
nsv523559 CNV loss 19592680
nsv525451 CNV loss 19592680
nsv528236 CNV loss 19592680
nsv556488 CNV gain 21841781
nsv556489 CNV loss 21841781
nsv556490 CNV loss 21841781
nsv556510 CNV loss 21841781
nsv556521 CNV loss 21841781
nsv556523 CNV loss 21841781
nsv556524 CNV loss 21841781
nsv818869 CNV loss 17921354
nsv826116 CNV gain 20364138
nsv832290 CNV gain+loss 17160897
nsv957844 CNV deletion 24416366
nsv957877 CNV deletion 24416366

Variation tolerance for PKNOX2 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKNOX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKNOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKNOX2 Gene

Disorders for PKNOX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PKNOX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
substance dependence
hydrolethalus syndrome 1
  • hls1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKNOX2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PKNOX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKNOX2 Gene

Publications for PKNOX2 Gene

  1. Identification and characterization of human PKNOX2, a novel homeobox-containing gene. (PMID: 11549286) Imoto I … Inazawa J (Biochemical and biophysical research communications 2001) 2 3 4 56
  2. Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. (PMID: 22488850) Zuo L … Luo X (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012) 3 43 56
  3. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. (PMID: 21956439) Zuo L … Luo X (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2012) 3 43 56
  4. Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. (PMID: 22137330) Sanchez-Juan P … van Duijn CM (Neurobiology of aging 2012) 3 43 56
  5. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. (PMID: 21703634) Wang KS … Zeng M (Journal of psychiatric research 2011) 3 43 56

Products for PKNOX2 Gene

Sources for PKNOX2 Gene