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    BARHL2 BarH like homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 343472, updated on 9-Dec-2024

    Summary

    Official Symbol
    BARHL2provided by HGNC
    Official Full Name
    BarH like homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:954
    See related
    Ensembl:ENSG00000143032 MIM:605212; AllianceGenome:HGNC:954
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; positive regulation of macromolecule biosynthetic process; and regulation of axon extension. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in oral squamous cell carcinoma. Biomarker of colorectal cancer; oral squamous cell carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 1.8) See more
    Orthologs
    NEW
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    Genomic context

    See BARHL2 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (90711539..90717302, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (90555903..90561666, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (91177096..91182859, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2787 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:91027459-91027961 Neighboring gene small nucleolar RNA, C/D box 3G Neighboring gene NANOG hESC enhancer GRCh37_chr1:91149838-91150358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91171602-91172396 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91176541-91177109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:91190371-91190926 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91190927-91191482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91192039-91192594 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91193268-91194089 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:91227242-91228098 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91253233-91253482 Neighboring gene long intergenic non-protein coding RNA 2609 Neighboring gene uncharacterized LOC124904217 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:91275093-91275704 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:91277119-91277260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:91300317-91300956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:91304224-91304748 Neighboring gene VISTA enhancer hs612 Neighboring gene long intergenic non-protein coding RNA 2788

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in amacrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of axon extension 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
    barH-like 2 homeobox protein

    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_020063.2NP_064447.1  barH-like 2 homeobox protein

      See identical proteins and their annotated locations for NP_064447.1

      Status: VALIDATED

      Source sequence(s)
      AC092805, AY338397
      Consensus CDS
      CCDS730.1
      UniProtKB/Swiss-Prot
      A0AVP2, Q7Z4N7, Q9NY43
      Related
      ENSP00000359474.3, ENST00000370445.5
      Conserved Domains (1) summary
      pfam00046
      Location:236288
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      90711539..90717302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419616.1XP_047275572.1  barH-like 2 homeobox protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      90555903..90561666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336367.1XP_054192342.1  barH-like 2 homeobox protein isoform X1