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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for BSX Gene

Enhancers for BSX 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
GH11H122855 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +125.1 125076 2 TBL1XR1 BMI1 BATF EGR1 FOS ATF7 ETV6 RUNX3 CREM IKZF2 C11orf63 BSX GC11P122841
GH11H123082 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -104.1 -104087 5 ELF3 PKNOX1 NFIB YY1 ZNF366 ZSCAN5C FOS ATF7 CREM USF2 CLMP BSX C11orf63 PIR37092 GC11P123097 GC11P123096 HSPA8
GH11H123470 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.8 -491.5 -491455 5 TBP CTCF JUN EBF1 EP300 RAD21 JUND GATA3 SMC3 STAT3 GRAMD1B CLMP BSX GC11M123460 GC11P123564
GH11H122882 0.9 ENCODE 11.1 +98.3 98335 1 FOXA2 ZNF76 SIN3A GLIS2 ZNF143 ZNF207 ATF7 SP3 YY2 CBFB CRTAM BSX C11orf63 GC11P122895
GH11H122864 0.9 Ensembl ENCODE 10.8 +116.8 116820 1 CTCF ZNF654 NR2F1 TRIM22 REST RAD21 ZNF316 KLF16 ZNF143 SMC3 BSX CRTAM RNU4-23P UBASH3B C11orf63 GC11P122841
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BSX on UCSC Golden Path with GeneCards custom track

Genomic Location for BSX Gene

Chromosome:
11
Start:
122,977,570 bp from pter
End:
122,981,720 bp from pter
Size:
4,151 bases
Orientation:
Minus strand

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 transcription factor activity, sequence-specific DNA binding 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

Clone Products

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

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 from RNA polymerase II promoter 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

Clone Products

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

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
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 , Evidence on tissue expression from TISSUES 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 Sequence Context AA Info Type
rs1000285800 -- 122,977,977(+) AGTCC(G/T)TTGAT intron-variant
rs1001055045 -- 122,979,896(+) CCCTG(A/G)TGACA intron-variant
rs1001486079 -- 122,980,157(+) TTTCC(C/T)TCTCA intron-variant
rs1001543553 -- 122,983,176(+) ATAAG(A/G)TCTTG upstream-variant-2KB
rs1002021142 -- 122,983,328(+) GGCGG(C/G/T)AGGAT upstream-variant-2KB

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)

Relevant External Links for BSX Gene

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

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

Disorders for BSX Gene

MalaCards: The human disease database

(1) MalaCards diseases for BSX Gene - From: GeneCards

Disorder Aliases PubMed IDs
jacobsen syndrome
  • chromosome 11q deletion
- elite association - COSMIC cancer census association via MalaCards
Search BSX in MalaCards View complete list of genes associated with diseases

Relevant External Links for BSX

Genetic Association Database (GAD)
BSX
Human Genome Epidemiology (HuGE) Navigator
BSX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BSX
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 45 60
  2. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3 60
  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 60
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 60
  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 60

Products for BSX Gene

Sources for BSX Gene

Content
Loading form....