U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 63876, updated on 9-Dec-2024

    Summary

    Official Symbol
    PKNOX2provided by HGNC
    Official Full Name
    PBX/knotted 1 homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:16714
    See related
    Ensembl:ENSG00000165495 MIM:613066; AllianceGenome:HGNC:16714
    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]
    Expression
    Broad expression in thyroid (RPKM 4.8), ovary (RPKM 4.1) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PKNOX2 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125164751..125433389)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125193419..125462086)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125034647..125303285)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 59 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125011687-125012243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125048979-125049726 Neighboring gene PKNOX2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125049727-125050473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125084643-125085174 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:125094169-125094781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125098532-125099526 Neighboring gene PKNOX2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 321, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125181994-125182578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125211245-125211994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125219321-125219863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125220519-125221182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125221183-125221844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125239164-125240045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125241808-125242687 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125296399-125296900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125298605-125299508 Neighboring gene Sharpr-MPRA regulatory region 8813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125314964-125315827 Neighboring gene Sharpr-MPRA regulatory region 13231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:125364213-125364716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365219-125365722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365723-125366224 Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907 Neighboring gene Sharpr-MPRA regulatory region 4861 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125439037-125439538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5698 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene EI24 autophagy associated transmembrane protein

    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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin monomer binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in microtubule cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    homeobox protein PKNOX2
    Names
    PBX/knotted homeobox 2
    homeobox protein PREP-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001382323.2NP_001369252.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Related
      ENSP00000298282.8, ENST00000298282.14
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    2. NM_001382324.1NP_001369253.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    3. NM_001382325.1NP_001369254.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    4. NM_001382326.1NP_001369255.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    5. NM_001382327.1NP_001369256.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    6. NM_001382328.1NP_001369257.1  homeobox protein PKNOX2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Consensus CDS
      CCDS41730.1
      UniProtKB/Swiss-Prot
      B7Z5I5, F5GZ15, Q63HL6, Q86XD1, Q96KN3
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:306345
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    7. NM_001382329.1NP_001369258.1  homeobox protein PKNOX2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 8-11, encodes isoform b.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6, B7ZAF3
      Conserved Domains (2) summary
      pfam05920
      Location:277316
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    8. NM_001382330.1NP_001369259.1  homeobox protein PKNOX2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 7 and 9-11, encodes isoform b.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6, B7ZAF3
      Conserved Domains (2) summary
      pfam05920
      Location:277316
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    9. NM_001382331.1NP_001369260.1  homeobox protein PKNOX2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 7, 8, 10, and 11, encodes isoform b.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6, B7ZAF3
      Conserved Domains (2) summary
      pfam05920
      Location:277316
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    10. NM_001382332.1NP_001369261.1  homeobox protein PKNOX2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 7-9 and 11, encodes isoform b.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6, B7ZAF3
      Conserved Domains (2) summary
      pfam05920
      Location:277316
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    11. NM_001382333.1NP_001369262.1  homeobox protein PKNOX2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 7-10, encodes isoform b.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6, B7ZAF3
      Conserved Domains (2) summary
      pfam05920
      Location:277316
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    12. NM_001382334.1NP_001369263.1  homeobox protein PKNOX2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 13, encodes isoform c.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Conserved Domains (3) summary
      pfam05920
      Location:194229
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    13. NM_001382335.1NP_001369264.1  homeobox protein PKNOX2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variant 12, encodes isoform c.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Conserved Domains (3) summary
      pfam05920
      Location:194229
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    14. NM_001382336.1NP_001369265.1  homeobox protein PKNOX2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform d.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Conserved Domains (2) summary
      pfam05920
      Location:165200
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    15. NM_001382337.1NP_001369266.1  homeobox protein PKNOX2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform d.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Conserved Domains (2) summary
      pfam05920
      Location:165200
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    16. NM_001382338.1NP_001369267.1  homeobox protein PKNOX2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform d.
      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      Conserved Domains (2) summary
      pfam05920
      Location:165200
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:67152
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    17. NM_001382339.1NP_001369268.1  homeobox protein PKNOX2 isoform e

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:302341
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG
    18. NM_001382340.1NP_001369269.1  homeobox protein PKNOX2 isoform f

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (2) summary
      pfam05920
      Location:242281
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:32117
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    19. NM_001382341.1NP_001369270.1  homeobox protein PKNOX2 isoform g

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
      UniProtKB/TrEMBL
      B7Z3G7, B7Z9N6
      Conserved Domains (3) summary
      pfam05920
      Location:230269
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:96181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
      NF033760
      Location:577
      gliding_GltG; adventurous gliding motility protein GltG

    RNA

    1. NR_168076.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    2. NR_168077.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    3. NR_168078.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    4. NR_168079.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    5. NR_168080.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    6. NR_168081.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    7. NR_168082.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    8. NR_168083.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069
    9. NR_168084.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP000708, AP001007, AP003061, AP003069

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125164751..125433389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125193419..125462086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022062.3: Suppressed sequence

      Description
      NM_022062.3: This RefSeq was removed because currently there is insufficient support for the transcript.