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Aliases for BARHL2 Gene

Aliases for BARHL2 Gene

  • BarH Like Homeobox 2 2 3 5
  • BarH (Drosophila)-Like 2 2
  • BarH-Like Homeobox 2 2

External Ids for BARHL2 Gene

Previous GeneCards Identifiers for BARHL2 Gene

  • GC01U990337
  • GC01M090353
  • GC01M090514
  • GC01M090889
  • GC01M091177
  • GC01M089296

Summaries for BARHL2 Gene

GeneCards Summary for BARHL2 Gene

BARHL2 (BarH Like Homeobox 2) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is BARHL1.

UniProtKB/Swiss-Prot for BARHL2 Gene

  • Potential regulator of neural basic helix-loop-helix genes.

Additional gene information for BARHL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BARHL2 Gene

Genomics for BARHL2 Gene

Regulatory Elements for BARHL2 Gene

Enhancers for BARHL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H090717 1 FANTOM5 56.9 -0.7 -745 0 LEF1 PKNOX1 RB1 FEZF1 ZNF384 ZNF324 FOXM1 CTBP1 GLIS2 ZNF366 BARHL2 GC01P090840
GH01H090959 0.9 ENCODE 10.7 -242.5 -242522 0 FOXA2 ARID4B ZSCAN9 RAD21 RARA RFX5 ATF7 CREM THAP11 CEBPB BARHL2 PIR51118 PHKA1P1
GH01H090719 0.6 FANTOM5 7.8 -2.3 -2320 0 SUZ12 CTBP2 ZNF384 EZH2 BARHL2 GC01P090840
GH01H090725 0.5 FANTOM5 3.8 -8.3 -8294 0 CTCF SUZ12 EZH2 BARHL2 GC01P090840
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BARHL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BARHL2 Gene

Chromosome:
1
Start:
90,711,539 bp from pter
End:
90,717,237 bp from pter
Size:
5,699 bases
Orientation:
Minus strand

Genomic View for BARHL2 Gene

Genes around BARHL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BARHL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BARHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BARHL2 Gene

Proteins for BARHL2 Gene

  • Protein details for BARHL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY43-BARH2_HUMAN
    Recommended name:
    BarH-like 2 homeobox protein
    Protein Accession:
    Q9NY43
    Secondary Accessions:
    • A0AVP2
    • Q7Z4N7

    Protein attributes for BARHL2 Gene

    Size:
    387 amino acids
    Molecular mass:
    41981 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BARHL2 Gene

Post-translational modifications for BARHL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BARHL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BARHL2 Gene

Domains & Families for BARHL2 Gene

Gene Families for BARHL2 Gene

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

Suggested Antigen Peptide Sequences for BARHL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY43

UniProtKB/Swiss-Prot:

BARH2_HUMAN :
  • Belongs to the BAR homeobox family.
Family:
  • Belongs to the BAR homeobox family.
genes like me logo Genes that share domains with BARHL2: view

Function for BARHL2 Gene

Molecular function for BARHL2 Gene

UniProtKB/Swiss-Prot Function:
Potential regulator of neural basic helix-loop-helix genes.

Phenotypes From GWAS Catalog for BARHL2 Gene

Gene Ontology (GO) - Molecular Function for BARHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with BARHL2: view
genes like me logo Genes that share phenotypes with BARHL2: view

Animal Models for BARHL2 Gene

MGI Knock Outs for BARHL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BARHL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BARHL2 Gene

Localization for BARHL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BARHL2 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 BARHL2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for BARHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with BARHL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BARHL2 Gene

Pathways & Interactions for BARHL2 Gene

SuperPathways for BARHL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BARHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination IEA --
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA,IBA --
genes like me logo Genes that share ontologies with BARHL2: view

No data available for Pathways by source and SIGNOR curated interactions for BARHL2 Gene

Drugs & Compounds for BARHL2 Gene

No Compound Related Data Available

Transcripts for BARHL2 Gene

mRNA/cDNA for BARHL2 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BARHL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BARHL2 Gene

No ASD Table

Relevant External Links for BARHL2 Gene

GeneLoc Exon Structure for
BARHL2
ECgene alternative splicing isoforms for
BARHL2

Expression for BARHL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BARHL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BARHL2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x25.1) and Brain - Cerebellum (x24.3).

NURSA nuclear receptor signaling pathways regulating expression of BARHL2 Gene:

BARHL2

SOURCE GeneReport for Unigene cluster for BARHL2 Gene:

Hs.451956

Evidence on tissue expression from TISSUES for BARHL2 Gene

  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with BARHL2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BARHL2 Gene

Orthologs for BARHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BARHL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BARHL2 33 34
  • 97.42 (n)
dog
(Canis familiaris)
Mammalia BARHL2 33 34
  • 92.69 (n)
cow
(Bos Taurus)
Mammalia BARHL2 33 34
  • 90.44 (n)
rat
(Rattus norvegicus)
Mammalia Barhl2 33
  • 89.41 (n)
mouse
(Mus musculus)
Mammalia Barhl2 33 16 34
  • 88.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BARHL2 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BARHL2 34
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia barhl2 33
  • 75.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398182 33
zebrafish
(Danio rerio)
Actinopterygii barhl2 33 34
  • 71.99 (n)
Dr.16934 33
fruit fly
(Drosophila melanogaster)
Insecta CG11085 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-30 34
  • 35 (a)
ManyToMany
ceh-31 34
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for BARHL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 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)

Evolution for BARHL2 Gene

ENSEMBL:
Gene Tree for BARHL2 (if available)
TreeFam:
Gene Tree for BARHL2 (if available)

Paralogs for BARHL2 Gene

Paralogs for BARHL2 Gene

(2) SIMAP similar genes for BARHL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BARHL2: view

Variants for BARHL2 Gene

Sequence variations from dbSNP and Humsavar for BARHL2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000039509 -- 90,711,931(+) CCTTC(C/T)TTCTT downstream-variant-500B
rs1000559086 -- 90,711,787(+) GGTCA(C/T)GAGAA downstream-variant-500B
rs1001097037 -- 90,715,329(+) AAAGC(C/T)TCACA intron-variant
rs1001159235 -- 90,712,838(+) AATTA(C/T)ACCTT intron-variant
rs1001444998 -- 90,713,080(+) GCTGT(A/G)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BARHL2 Gene

Variant ID Type Subtype PubMed ID
nsv950204 CNV deletion 24416366

Variation tolerance for BARHL2 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BARHL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BARHL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BARHL2 Gene

Disorders for BARHL2 Gene

Relevant External Links for BARHL2

Genetic Association Database (GAD)
BARHL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BARHL2

No disorders were found for BARHL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BARHL2 Gene

Publications for BARHL2 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. Role of the Barhl2 homeobox gene in the specification of glycinergic amacrine cells. (PMID: 14998930) Mo Z … Xiang M (Development (Cambridge, England) 2004) 2 3 60
  3. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. (PMID: 10814725) Bulfone A … Banfi S (Human molecular genetics 2000) 3 4 60
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60
  5. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 45 60

Products for BARHL2 Gene

Sources for BARHL2 Gene

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