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

Gene ID: 63876, updated on 11-Jun-2021

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
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
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Genomic context

See PKNOX2 in Genome Data Viewer
Location:
11q24.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (125164751..125433389)
105.20201022 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 PKNOX2 divergent transcript Neighboring gene uncharacterized LOC105369549 Neighboring gene RNA, U6 small nuclear 321, pseudogene Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907

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

Associated conditions

Description Tests
A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
GeneReviews: Not available
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
GeneReviews: Not available
Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.
GeneReviews: Not available
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
GeneReviews: Not available
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
GeneReviews: Not available
The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13074

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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)

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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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    125164751..125433389
    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.
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