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

Gene ID: 343472, updated on 5-Aug-2022

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 part of 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, Apr 2022]
Expression
Restricted expression toward testis (RPKM 1.8) See more
Orthologs
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Genomic context

See BARHL2 in Genome Data Viewer
Location:
1p22.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (90711539..90717302, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (90555903..90561666, complement)
105.20220307 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 small nucleolar RNA, C/D box 3G Neighboring gene long intergenic non-protein coding RNA 2609 Neighboring gene uncharacterized LOC124904217 Neighboring gene VISTA enhancer hs612

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

Homology

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
PubMed 
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
PubMed 

General protein information

Preferred Names
barH-like 2 homeobox protein

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.

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
    Q7Z4N7, Q9NY43
    Related
    ENSP00000359474.3, ENST00000370445.5
    Conserved Domains (1) summary
    pfam00046
    Location:236288
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)