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    HOXB6 homeobox B6 [ Homo sapiens (human) ]

    Gene ID: 3216, updated on 9-Dec-2024

    Summary

    Official Symbol
    HOXB6provided by HGNC
    Official Full Name
    homeobox B6provided by HGNC
    Primary source
    HGNC:HGNC:5117
    See related
    Ensembl:ENSG00000108511 MIM:142961; AllianceGenome:HGNC:5117
    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
    HOX2; HU-2; HOX2B; Hox-2.2
    Summary
    This gene is a member of the Antp homeobox family and encodes a 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, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 11.8), colon (RPKM 5.2) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See HOXB6 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48595751..48604986, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49459343..49468579, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46673113..46682348, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene homeobox B3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46659314-46660126 Neighboring gene HOXB associated long intergenic non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46671071-46671578 Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46671579-46672084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46673127-46673798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12335 Neighboring gene homeobox B5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46684881-46685426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46687251-46688071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46688072-46688891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46688892-46689712 Neighboring gene homeobox B7 Neighboring gene homeobox B8

    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?

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte homeostasis 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
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-B6
    Names
    homeo box 2B
    homeo box B6
    homeobox protein Hox-2.2
    homeobox protein Hox-2B
    homeobox protein Hu-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.

    Genomic

    1. NG_046953.1 RefSeqGene

      Range
      5007..14242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001369397.2NP_001356326.1  homeobox protein Hox-B6

      Status: REVIEWED

      Source sequence(s)
      AA053456, AA610066, AK292200
      Consensus CDS
      CCDS11531.1
      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2
      Related
      ENSP00000420009.2, ENST00000484302.3
      Conserved Domains (1) summary
      pfam00046
      Location:150203
      Homeobox; Homeobox domain
    2. NM_018952.5NP_061825.2  homeobox protein Hox-B6

      See identical proteins and their annotated locations for NP_061825.2

      Status: REVIEWED

      Source sequence(s)
      AC103702, AI352188, AJ270993, BC014651
      Consensus CDS
      CCDS11531.1
      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2
      Related
      ENSP00000225648.3, ENST00000225648.4
      Conserved Domains (1) summary
      pfam00046
      Location:150203
      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
      48595751..48604986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435908.1XP_047291864.1  homeobox protein Hox-B6 isoform X2

      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2
    2. XM_011524727.4XP_011523029.1  homeobox protein Hox-B6 isoform X1

      Conserved Domains (1) summary
      pfam00046
      Location:214266
      Homeobox; Homeobox domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49459343..49468579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315927.1XP_054171902.1  homeobox protein Hox-B6 isoform X2

      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2
    2. XM_054315926.1XP_054171901.1  homeobox protein Hox-B6 isoform X1

    3. XM_054315925.1XP_054171900.1  homeobox protein Hox-B6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_156036.1: Suppressed sequence

      Description
      NM_156036.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_156037.1: Suppressed sequence

      Description
      NM_156037.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.