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    HOXB2 homeobox B2 [ Homo sapiens (human) ]

    Gene ID: 3212, updated on 10-Dec-2024

    Summary

    Official Symbol
    HOXB2provided by HGNC
    Official Full Name
    homeobox B2provided by HGNC
    Primary source
    HGNC:HGNC:5113
    See related
    Ensembl:ENSG00000173917 MIM:142967; AllianceGenome:HGNC:5113
    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
    K8; HOX2; HOX2H; Hox-2.8
    Summary
    This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 11.3), fat (RPKM 6.5) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOXB2 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48542655..48545109, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49406234..49408688, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46620017..46622471, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:46597283-46597974 Neighboring gene uncharacterized LOC105371808 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:46597975-46598664 Neighboring gene Sharpr-MPRA regulatory region 4378 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46608263-46608843 Neighboring gene homeobox B1 Neighboring gene Sharpr-MPRA regulatory region 4554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46620694-46621339 Neighboring gene HOXB cluster antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46629432-46630177 Neighboring gene homeobox B3 Neighboring gene HOXB cluster antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46641715-46642519 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:46647249-46648100 Neighboring gene homeobox B4

    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
    Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in facial nerve structural organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in morphogenesis of an epithelial sheet IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in neural nucleus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in rhombomere 3 development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 4 development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-B2
    Names
    K8 home protein
    homeo box 2H
    homeo box B2
    homeobox protein Hox-2.8
    homeobox protein Hox-2H

    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_002145.4NP_002136.1  homeobox protein Hox-B2

      See identical proteins and their annotated locations for NP_002136.1

      Status: REVIEWED

      Source sequence(s)
      AC103702, BC038968, X16665
      Consensus CDS
      CCDS11527.1
      UniProtKB/Swiss-Prot
      P10913, P14652, P17485
      Related
      ENSP00000331741.4, ENST00000330070.6
      Conserved Domains (1) summary
      pfam00046
      Location:147199
      Homeobox; Homeobox domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      48542655..48545109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257275.5XP_005257332.1  homeobox protein Hox-B2 isoform X1

      Conserved Domains (1) summary
      pfam00046
      Location:3890
      Homeobox; Homeobox domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49406234..49408688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315916.1XP_054171891.1  homeobox protein Hox-B2 isoform X1