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] See more...

Aliases for BARX2 Gene

Aliases for BARX2 Gene

  • BARX Homeobox 2 2 3 5
  • Homeobox Protein BarH-Like 2 3 4
  • BarH-Like Homeobox 2 2 3
  • BARX2 5

External Ids for BARX2 Gene

Previous GeneCards Identifiers for BARX2 Gene

  • GC11P131246
  • GC11P130758
  • GC11P129279
  • GC11P128783
  • GC11P128751
  • GC11P125197

Summaries for BARX2 Gene

Entrez Gene Summary for BARX2 Gene

  • 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]

GeneCards Summary for BARX2 Gene

BARX2 (BARX Homeobox 2) is a Protein Coding gene. Diseases associated with BARX2 include Jacobsen Syndrome. Among its related pathways are Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is BARX1.

UniProtKB/Swiss-Prot Summary for BARX2 Gene

  • Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BARX2 Gene

Genomics for BARX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BARX2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BARX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BARX2

Top Transcription factor binding sites by QIAGEN in the BARX2 gene promoter:
  • Evi-1
  • MyoD
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)

Genomic Locations for BARX2 Gene

Latest Assembly
chr11:129,375,237-129,452,279
(GRCh38/hg38)
Size:
77,043 bases
Orientation:
Plus strand

Previous Assembly
chr11:129,245,743-129,322,174
(GRCh37/hg19 by Entrez Gene)
Size:
76,432 bases
Orientation:
Plus strand

chr11:129,245,835-129,322,171
(GRCh37/hg19 by Ensembl)
Size:
76,337 bases
Orientation:
Plus strand

Genomic View for BARX2 Gene

Genes around BARX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BARX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BARX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BARX2 Gene

Proteins for BARX2 Gene

  • Protein details for BARX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMQ3-BARX2_HUMAN
    Recommended name:
    Homeobox protein BarH-like 2
    Protein Accession:
    Q9UMQ3
    Secondary Accessions:
    • O43518
    • Q6NT51

    Protein attributes for BARX2 Gene

    Size:
    279 amino acids
    Molecular mass:
    31188 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC04705.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAC04705.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF09453.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF09453.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for BARX2 Gene

Post-translational modifications for BARX2 Gene

  • Ubiquitination at Lys23
  • Modification sites at PhosphoSitePlus

Other Protein References for BARX2 Gene

No data available for DME Specific Peptides for BARX2 Gene

Domains & Families for BARX2 Gene

Gene Families for BARX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BARX2 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature
ProtoNet:

Suggested Antigen Peptide Sequences for BARX2 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein BarH-like 2 (BARX2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UMQ3

UniProtKB/Swiss-Prot:

BARX2_HUMAN :
  • Belongs to the BAR homeobox family.
Family:
  • Belongs to the BAR homeobox family.
genes like me logo Genes that share domains with BARX2: view

Function for BARX2 Gene

Molecular function for BARX2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity).
GENATLAS Biochemistry:
Bar H-like homeobox 2,expressed in craniofacial structures during development

Phenotypes From GWAS Catalog for BARX2 Gene

Gene Ontology (GO) - Molecular Function for BARX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 14744868
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 14744868
GO:0003677 DNA binding IDA 10854790
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with BARX2: view
genes like me logo Genes that share phenotypes with BARX2: view

Animal Models for BARX2 Gene

MGI Knock Outs for BARX2:
  • Barx2 Barx2<tm1Rsd>
  • Barx2 Barx2<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BARX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BARX2 Gene

Localization for BARX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BARX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BARX2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BARX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with BARX2: view

Pathways & Interactions for BARX2 Gene

PathCards logo

SuperPathways for BARX2 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with BARX2: view

Pathways by source for BARX2 Gene

1 BioSystems pathway for BARX2 Gene

Gene Ontology (GO) - Biological Process for BARX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001502 cartilage condensation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0014902 myotube differentiation IEA --
genes like me logo Genes that share ontologies with BARX2: view

No data available for SIGNOR curated interactions for BARX2 Gene

Drugs & Compounds for BARX2 Gene

No Compound Related Data Available

Transcripts for BARX2 Gene

mRNA/cDNA for BARX2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BARX2

Alternative Splicing Database (ASD) splice patterns (SP) for BARX2 Gene

No ASD Table

Relevant External Links for BARX2 Gene

GeneLoc Exon Structure for
BARX2

Expression for BARX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BARX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BARX2 Gene

This gene is overexpressed in Esophagus - Mucosa (x17.0), Minor Salivary Gland (x11.1), Vagina (x7.1), and Skin - Not Sun Exposed (Suprapubic) (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BARX2

SOURCE GeneReport for Unigene cluster for BARX2 Gene:

Hs.591944

mRNA Expression by UniProt/SwissProt for BARX2 Gene:

Q9UMQ3-BARX2_HUMAN
Tissue specificity: Highly expressed in adult salivary gland and at much lower levels in mammary gland, kidney and placenta.

Evidence on tissue expression from TISSUES for BARX2 Gene

  • Intestine(4.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with BARX2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BARX2 Gene

Orthologs for BARX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BARX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BARX2 30 31
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BARX2 30 31
  • 90.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BARX2 30 31
  • 90.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Barx2 30 17 31
  • 87.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Barx2 30
  • 85.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia BARX2 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BARX2 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BARX2 30
  • 75.78 (n)
BARX2B 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BARX2 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia barx2 30
  • 70.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii barx2 30 31
  • 72.15 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Species where no ortholog for BARX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BARX2 Gene

ENSEMBL:
Gene Tree for BARX2 (if available)
TreeFam:
Gene Tree for BARX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BARX2: view image

Paralogs for BARX2 Gene

Paralogs for BARX2 Gene

(9) SIMAP similar genes for BARX2 Gene using alignment to 3 proteins:

  • BARX2_HUMAN
  • G3V222_HUMAN
  • G3V397_HUMAN
genes like me logo Genes that share paralogs with BARX2: view

Variants for BARX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BARX2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs34520023 Benign: not provided 129,451,317(+) G/A
NM_003658.5(BARX2):c.755G>A (p.Arg252His)
MISSENSE
rs61732044 Benign: not provided 129,437,028(+) G/A
NM_003658.5(BARX2):c.465G>A (p.Gln155=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BARX2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BARX2 Gene

Variant ID Type Subtype PubMed ID
esv3579967 CNV loss 25503493
nsv1036787 CNV gain 25217958
nsv1046731 CNV gain 25217958
nsv475507 CNV novel sequence insertion 20440878
nsv546 CNV insertion 18451855
nsv952761 CNV deletion 24416366

Variation tolerance for BARX2 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BARX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BARX2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BARX2 Gene

Disorders for BARX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BARX2 Gene - From: COP

Disorder Aliases PubMed IDs
jacobsen syndrome
  • jbs
- elite association - COSMIC cancer census association via MalaCards
Search BARX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BARX2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BARX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BARX2 Gene

Publications for BARX2 Gene

  1. The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms. (PMID: 10644443) Hjalt TA … Murray JC (Genomics 1999) 2 3 4
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
  3. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. (PMID: 10854790) Krasner A … Nelkin BD (Gene 2000) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. BARX2 expression is downregulated by CpG island hypermethylation and is associated with suppressed cell proliferation and invasion of gastric cancer cells. (PMID: 32236603) Ma J … Li ZS (Oncology reports 2020) 3

Products for BARX2 Gene

Sources for BARX2 Gene