Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BSX Gene

Aliases for BSX Gene

  • Brain Specific Homeobox 2 3 5
  • BSX1 3 4
  • Brain-Specific Homeobox Protein Homolog 3

External Ids for BSX Gene

Previous GeneCards Identifiers for BSX Gene

  • GC11M122354
  • GC11M122848
  • GC11M118791

Summaries for BSX Gene

GeneCards Summary for BSX Gene

BSX (Brain Specific Homeobox) is a Protein Coding gene. Diseases associated with BSX include Jacobsen Syndrome and Conotruncal Heart Malformations. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is BARHL2.

UniProtKB/Swiss-Prot for BSX Gene

  • DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity).

Additional gene information for BSX 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 BSX Gene

Genomics for BSX Gene

GeneHancer (GH) Regulatory Elements for BSX Gene

Promoters and enhancers for BSX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I122981 Enhancer 0.7 ENCODE 550.8 -0.2 -218 0.2 BACH1 SIN3A ZNF766 PATZ1 VEZF1 ZNF143 KLF8 ZBTB20 EZH2 TFE3 GC11M122984 BSX LOC341056
GH11I122882 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 11.1 +98.4 98412 2 FOXA2 SMAD1 ZNF76 SIN3A ZNF335 GLIS2 ZNF143 ZNF207 ATF7 SP3 JHY CRTAM BSX GC11P122895
GH11I122855 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +125.1 125075 2.3 SMAD1 BMI1 BATF IRF4 ZNF335 EGR1 ATF7 ETV6 FOS BCLAF1 JHY BSX GC11P122841 CRTAM
GH11I123082 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 -104.1 -104086 5.8 ELF3 PKNOX1 SMAD1 NFIB MZF1 YY1 ZNF366 ZSCAN5C FOS ATF7 CLMP BSX JHY PIR37092 GC11P123097 GC11P123096 LOC101929289 HSPA8
GH11I123470 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 8.8 -491.5 -491455 5.9 CTCF JUN EBF1 EP300 RAD21 SP1 GATA3 JUND STAT3 SMC3 GRAMD1B CLMP BSX GC11M123460 GC11P123564
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BSX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BSX gene promoter:

Genomic Locations for BSX Gene

Genomic Locations for BSX Gene
chr11:122,977,570-122,981,720
(GRCh38/hg38)
Size:
4,151 bases
Orientation:
Minus strand
chr11:122,848,278-122,852,428
(GRCh37/hg19)

Genomic View for BSX Gene

Genes around BSX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BSX Gene

Proteins for BSX Gene

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

    Protein Symbol:
    Q3C1V8-BSH_HUMAN
    Recommended name:
    Brain-specific homeobox protein homolog
    Protein Accession:
    Q3C1V8

    Protein attributes for BSX Gene

    Size:
    233 amino acids
    Molecular mass:
    25933 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BSX Gene

Post-translational modifications for BSX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BSX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BSX Gene

Domains & Families for BSX Gene

Gene Families for BSX Gene

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

Protein Domains for BSX Gene

Suggested Antigen Peptide Sequences for BSX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3C1V8

UniProtKB/Swiss-Prot:

BSH_HUMAN :
  • Belongs to the distal-less homeobox family.
Family:
  • Belongs to the distal-less homeobox family.
genes like me logo Genes that share domains with BSX: view

Function for BSX Gene

Molecular function for BSX Gene

UniProtKB/Swiss-Prot Function:
DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity).

Phenotypes From GWAS Catalog for BSX Gene

Gene Ontology (GO) - Molecular Function for BSX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with BSX: view
genes like me logo Genes that share phenotypes with BSX: view

Animal Models for BSX Gene

MGI Knock Outs for BSX:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for BSX Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSX Gene

Nucleus.

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 BSX gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for BSX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BSX: view

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

Pathways & Interactions for BSX Gene

No Data Available

Gene Ontology (GO) - Biological Process for BSX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007626 locomotory behavior IEA --
GO:0042755 eating behavior IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with BSX: view

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

Drugs & Compounds for BSX Gene

No Compound Related Data Available

Transcripts for BSX Gene

mRNA/cDNA for BSX Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BSX Gene

Brain-specific homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for BSX Gene

GeneLoc Exon Structure for
BSX
ECgene alternative splicing isoforms for
BSX

Expression for BSX Gene

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

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

This gene is overexpressed in Brain - Hypothalamus (x37.5) and Testis (x11.0).

NURSA nuclear receptor signaling pathways regulating expression of BSX Gene:

BSX

SOURCE GeneReport for Unigene cluster for BSX Gene:

Hs.449687

Evidence on tissue expression from TISSUES for BSX Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with BSX: 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 BSX Gene

Orthologs for BSX Gene

This gene was present in the common ancestor of animals.

Orthologs for BSX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BSX 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia BSX 33 34
  • 92.39 (n)
dog
(Canis familiaris)
Mammalia BSX 33 34
  • 92.24 (n)
oppossum
(Monodelphis domestica)
Mammalia BSX 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bsx 33 16 34
  • 88.94 (n)
rat
(Rattus norvegicus)
Mammalia Bsx 33
  • 87.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BSX 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves BSX 33 34
  • 76.33 (n)
lizard
(Anolis carolinensis)
Reptilia BSX 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bsx 33
  • 67.42 (n)
zebrafish
(Danio rerio)
Actinopterygii bsx 33 34
  • 65.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta bsh 34
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tab-1 34
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToOne
Species where no ortholog for BSX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 BSX Gene

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

Paralogs for BSX Gene

Paralogs for BSX Gene

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

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

Variants for BSX Gene

Sequence variations from dbSNP and Humsavar for BSX Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000285800 -- 122,977,977(-) G/T intron_variant
rs1001055045 -- 122,979,896(-) A/G intron_variant
rs1001486079 -- 122,980,157(-) C/T intron_variant
rs1001543553 -- 122,983,176(-) A/G upstream_transcript_variant
rs1002021142 -- 122,983,328(-) G/C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2759867 CNV gain 17122850
nsv952750 CNV deletion 24416366

Variation tolerance for BSX Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 46.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BSX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BSX Gene

MalaCards: The human disease database

(2) MalaCards diseases for BSX Gene - From: DISEASES and GeneCards

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

Additional Disease Information for BSX

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

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

Publications for BSX Gene

  1. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58
  2. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 58
  3. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). (PMID: 18855024) Coldren CD … Grossfeld PD (Neurogenetics 2009) 3 58
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58
  5. Cloning and functional analysis of hypothalamic homeobox gene Bsx1a and its isoform, Bsx1b. (PMID: 17353277) Chu HY … Ohtoshi A (Molecular and cellular biology 2007) 3 58

Products for BSX Gene

Sources for BSX Gene

Content
Loading form....