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BARX2 BARX homeobox 2 [ Homo sapiens (human) ]

Gene ID: 8538, updated on 18-Sep-2024

Summary

Official Symbol
BARX2provided by HGNC
Official Full Name
BARX homeobox 2provided by HGNC
Primary source
HGNC:HGNC:956
See related
Ensembl:ENSG00000043039 MIM:604823; AllianceGenome:HGNC:956
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
Summary
This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 46.6), salivary gland (RPKM 29.6) and 9 other tissues See more
Orthologs
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Genomic context

See BARX2 in Genome Data Viewer
Location:
11q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (129375233..129452279)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (129410744..129487778)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (129245743..129322174)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369571 Neighboring gene uncharacterized LOC105369572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:129185575-129186080 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129214584-129215466 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:129269826-129270022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129310555-129311079 Neighboring gene NANOG hESC enhancer GRCh37_chr11:129323212-129323713 Neighboring gene ribosomal protein S27 pseudogene 20 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:129458354-129458956 Neighboring gene long intergenic non-protein coding RNA 1395

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association search for type 2 diabetes genes in African Americans.
EBI GWAS Catalog
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC133368, MGC133369

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
involved_in myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
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
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein BarH-like 2
Names
BarH-like homeobox 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.

mRNA and Protein(s)

  1. NM_003658.5NP_003649.2  homeobox protein BarH-like 2

    See identical proteins and their annotated locations for NP_003649.2

    Status: REVIEWED

    Source sequence(s)
    AP003775, BC111432
    Consensus CDS
    CCDS8481.1
    UniProtKB/Swiss-Prot
    O43518, Q6NT51, Q9UMQ3
    Related
    ENSP00000281437.4, ENST00000281437.6
    Conserved Domains (1) summary
    pfam00046
    Location:136189
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    129375233..129452279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543044.3XP_011541346.1  homeobox protein BarH-like 2 isoform X2

    Conserved Domains (1) summary
    pfam00046
    Location:344
    Homeobox; Homeobox domain
  2. XM_011543043.1XP_011541345.1  homeobox protein BarH-like 2 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:90144
    Homeobox; Homeobox domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    129410744..129487778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370323.1XP_054226298.1  homeobox protein BarH-like 2 isoform X2

  2. XM_054370322.1XP_054226297.1  homeobox protein BarH-like 2 isoform X1