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    HOXB8 homeobox B8 [ Homo sapiens (human) ]

    Gene ID: 3218, updated on 27-Nov-2024

    Summary

    Official Symbol
    HOXB8provided by HGNC
    Official Full Name
    homeobox B8provided by HGNC
    Primary source
    HGNC:HGNC:5119
    See related
    Ensembl:ENSG00000120068 MIM:142963; AllianceGenome:HGNC:5119
    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; HOX2D; Hox-2.4
    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 colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 4.3), colon (RPKM 4.2) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOXB8 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 (48612346..48615292, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49475941..49484669, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46689708..46692654, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HOXB cluster antisense RNA 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46673127-46673798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8655 Neighboring gene homeobox B6 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 H3K4me1 hESC enhancer GRCh37_chr17:46694872-46695395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46702573-46703250 Neighboring gene homeobox B9 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:46704661-46704816 Neighboring gene HOXB cluster antisense RNA 4 Neighboring gene microRNA 196a-1

    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?

    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 adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of myeloid cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II 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
     
    involved_in sensory perception of pain 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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein Hox-B8
    Names
    homeo box 2D
    homeo box B8
    homeobox protein Hox-2.4
    homeobox protein Hox-2D

    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_024016.4NP_076921.1  homeobox protein Hox-B8

      See identical proteins and their annotated locations for NP_076921.1

      Status: REVIEWED

      Source sequence(s)
      AC103702, AI277015, AI672407, AK096222, AW612644, BF761142
      Consensus CDS
      CCDS11533.1
      UniProtKB/Swiss-Prot
      P17481, Q9H1I2
      UniProtKB/TrEMBL
      Q8N8T3
      Related
      ENSP00000239144.4, ENST00000239144.5
      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
      48612346..48615292 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49475941..49484669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315928.1XP_054171903.1  homeobox protein Hox-B8 isoform X1

      UniProtKB/Swiss-Prot
      P17481, Q9H1I2