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    HOXB6 homeobox B6 [ Homo sapiens (human) ]

    Gene ID: 3216, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene. Roubroeks JAY, et al. Neurobiol Aging, 2020 Nov. PMID 32745807, Free PMC Article
    2. Expression pattern of HOXB6 homeobox gene in myelomonocytic differentiation and acute myeloid leukemia. Giampaolo A, et al. Leukemia, 2002 Jul. PMID 12094253
    3. Deregulated expression of homeobox-containing genes, HOXB6, B8, C8, C9, and Cdx-1, in human colon cancer cell lines. Vider BZ, et al. Biochem Biophys Res Commun, 2000 Jun 7. PMID 10833444
    4. Expression of HOX gene products in normal and abnormal trophoblastic tissue. Amesse LS, et al. Gynecol Oncol, 2003 Sep. PMID 13678718
    5. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Sawcer S, et al. Nat Genet, 1996 Aug. PMID 8696343

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ST8SIA6-AS1 promotes hepatocellular carcinoma by absorbing miR-5195-3p to regulate HOXB6.
      Title: ST8SIA6-AS1 promotes hepatocellular carcinoma by absorbing miR-5195-3p to regulate HOXB6.
    2. An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene.
      Title: An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene.
    3. HOXA5, HOXB6, and GLTP were direct target genes of MIR196B in CRC cells.
      Title: MicroRNA 196B Regulates HOXA5, HOXB6 and GLTP Expression Levels in Colorectal Cancer Cells.
    4. HOXB5, HOXB6, and HOXB7 are activated in Barrett esophagus, and the midcluster HOXB gene signature in BE most resembled the colon rather than other GI epithelia.
      Title: Evidence for a functional role of epigenetically regulated midcluster HOXB genes in the development of Barrett esophagus.
    5. Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes.
      Title: Induction of HoxB transcription by retinoic acid requires actin polymerization.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.
    7. the homeodomain contains most or all of the important structures required for HOXB6 activity in blood cells.
      Title: HOXB6 protein is bound to CREB-binding protein and represses globin expression in a DNA binding-dependent, PBX interaction-independent process.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA binding HDA PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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 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

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    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)

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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.

    Genomic

    1. NG_046953.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001369397.2 → NP_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:150 → 203
      Homeobox; Homeobox domain

    2. NM_018952.5 → NP_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:150 → 203
      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_047435908.1 → XP_047291864.1  homeobox protein Hox-B6 isoform X2

      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2

    2. XM_011524727.4 → XP_011523029.1  homeobox protein Hox-B6 isoform X1

      Conserved Domains (1) summary
      pfam00046
      Location:214 → 266
      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_054315927.1 → XP_054171902.1  homeobox protein Hox-B6 isoform X2

      UniProtKB/Swiss-Prot
      A8K835, D3DTV5, P09068, P17509, Q9HB11, Q9UGH2

    2. XM_054315926.1 → XP_054171901.1  homeobox protein Hox-B6 isoform X1

    3. XM_054315925.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17509.4 GenPept UniProtKB/Swiss-Prot:P17509

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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