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    PBX2 PBX homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 5089, updated on 17-Jun-2024

    Summary

    Official Symbol
    PBX2provided by HGNC
    Official Full Name
    PBX homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:8633
    See related
    Ensembl:ENSG00000204304 MIM:176311; AllianceGenome:HGNC:8633
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G17; HOX12; PBX2MHC
    Summary
    This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 34.1), spleen (RPKM 33.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PBX2 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32184733..32190202, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32037924..32043391, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32152510..32157979, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32150105-32150623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32150624-32151141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32156057-32156613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32157766-32158334 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:32158721-32158899 Neighboring gene microRNA 6833 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32163365-32164145 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32164146-32164927 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32164928-32165708 Neighboring gene ring finger protein 5 Neighboring gene advanced glycosylation end-product specific receptor Neighboring gene G protein signaling modulator 3 Neighboring gene notch receptor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32222789-32223446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32223447-32224103 Neighboring gene TSBP1 and BTNL2 antisense RNA 1 Neighboring gene MPRA-validated peak5754 silencer Neighboring gene testis expressed basic protein 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 2

    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 genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in eye development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pre-B-cell leukemia transcription factor 2
    Names
    XXbac-BPG300A18.13
    homeobox 12
    homeobox protein PBX2
    pre-B-cell leukemia homeobox 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_002586.5NP_002577.2  pre-B-cell leukemia transcription factor 2

      See identical proteins and their annotated locations for NP_002577.2

      Status: REVIEWED

      Source sequence(s)
      AL662884, BC082261, BQ182713, DB162975, X59842
      Consensus CDS
      CCDS4748.1
      UniProtKB/Swiss-Prot
      A2BFJ2, P40425
      UniProtKB/TrEMBL
      A0A024RCR3, A0A1U9X8A1
      Related
      ENSP00000364190.3, ENST00000375050.6
      Conserved Domains (2) summary
      cd00086
      Location:245305
      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.
      pfam03792
      Location:50243
      PBC; PBC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      32184733..32190202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418839.1XP_047274795.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      3517335..3522801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328504.1XP_054184479.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3623085..3628551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329825.1XP_054185800.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3489714..3495180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330606.1XP_054186581.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3526752..3532218 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330826.1XP_054186801.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      3407934..3413401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331084.1XP_054187059.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3500940..3506407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331347.1XP_054187322.1  pre-B-cell leukemia transcription factor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      32037924..32043391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355535.1XP_054211510.1  pre-B-cell leukemia transcription factor 2 isoform X1