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PKNOX2 PBX/knotted 1 homeobox 2 [ Homo sapiens (human) ]

Gene ID: 63876, updated on 26-May-2016
Official Symbol
PKNOX2provided by HGNC
Official Full Name
PBX/knotted 1 homeobox 2provided by HGNC
Primary source
HGNC:HGNC:16714
See related
Ensembl:ENSG00000165495 HPRD:17857; MIM:613066; Vega:OTTHUMG00000165884
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
PREP2
Summary
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]
Orthologs
Location:
11q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (125164663..125433389)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125034559..125303285)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 59 Neighboring gene PKNOX2 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC105369549 Neighboring gene uncharacterized LOC105369548 Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene STT3A antisense RNA 1 Neighboring gene EI24, autophagy associated transmembrane protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
NHGRI GWA Catalog
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.
NHGRI GWA Catalog
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
NHGRI GWA Catalog
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog
The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ13074

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
actin monomer binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein PKNOX2
Names
PBX/knotted homeobox 2
homeobox protein PREP-2

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_022062.2NP_071345.2  homeobox protein PKNOX2

    See identical proteins and their annotated locations for NP_071345.2

    Status: VALIDATED

    Source sequence(s)
    AJ417081, AP000708, BC045626, DA789677
    Consensus CDS
    CCDS41730.1
    UniProtKB/Swiss-Prot
    Q96KN3
    Related
    ENSP00000298282, OTTHUMP00000231420, ENST00000298282, OTTHUMT00000386866
    Conserved Domains (1) summary
    cd00086
    Location:289345
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    125164663..125433389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542945.1XP_011541247.1  

    See identical proteins and their annotated locations for XP_011541247.1

    UniProtKB/Swiss-Prot
    Q96KN3
    Conserved Domains (1) summary
    cd00086
    Location:289345
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  2. XM_011542946.1XP_011541248.1  

    Conserved Domains (1) summary
    cd00086
    Location:196229
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  3. XM_005271642.1XP_005271699.1  

    See identical proteins and their annotated locations for XP_005271699.1

    UniProtKB/Swiss-Prot
    Q96KN3
    Conserved Domains (1) summary
    cd00086
    Location:289345
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  4. XM_006718894.1XP_006718957.1  

    See identical proteins and their annotated locations for XP_006718957.1

    Conserved Domains (1) summary
    cd00086
    Location:156212
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  5. XM_011542947.1XP_011541249.1  

    See identical proteins and their annotated locations for XP_011541249.1

    Conserved Domains (1) summary
    cd00086
    Location:156212
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  6. XM_011542944.1XP_011541246.1  

    See identical proteins and their annotated locations for XP_011541246.1

    UniProtKB/Swiss-Prot
    Q96KN3
    Conserved Domains (1) summary
    cd00086
    Location:289345
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  7. XM_005271643.1XP_005271700.1  

    See identical proteins and their annotated locations for XP_005271700.1

    UniProtKB/TrEMBL
    B7ZAF3
    Conserved Domains (1) summary
    cd00086
    Location:260316
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    124920619..125189521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)