BSX Gene (Protein Coding)

Brain Specific Homeobox

GC11M122977
GIFtS:
32
See more...

Aliases for BSX Gene

Aliases for BSX Gene

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

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 Epiphyseal Dysplasia, Multiple, 4. 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 DLX5.

UniProtKB/Swiss-Prot Summary for BSX Gene

  • DNA binding protein that function as transcriptional activator. Is essential 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 , Rfam classification and piRNA Summary for BSX Gene

Genomics for BSX Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH11J122981 Enhancer 0.8 Ensembl ENCODE 250.7 -0.1 -73 0.6 REST SIN3A SP2 EHMT2 MXD3 MIER2 SP1 SP3 ZNF143 PATZ1 BSX lnc-HSPA8-3 MF588795 HSPA8
GH11J122882 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 11.1 +98.5 98533 2.2 ZNF207 POLR2A ZIC2 ZNF592 ZNF341 SIN3A ELF1 FOXA2 MAFF SP2 JHY CRTAM BSX RF00017-958
GH11J122855 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +125.2 125210 2.3 BCLAF1 SP1 JUND BCL11A TARDBP TRIM22 IRF4 ZBTB33 ZNF316 EBF1 lnc-BSX-3 JHY BSX CRTAM
GH11J123082 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10 -103.9 -103867 6.6 IKZF1 ZNF600 JUND ATF3 NFIC ZNF513 FOSL2 TAL1 EHMT2 PKNOX1 CLMP BSX JHY piR-44093-001 HSALNG0087809 ENSG00000288061 HSPA8
GH11J122864 Promoter/Enhancer 0.9 Ensembl ENCODE 10.8 +117.1 117133 1.4 ZNF654 REST TRIM22 CTCF SMC3 ZNF316 RAD21 NR2F1 ARID3A KLF16 BSX CRTAM RNU4-23P UBASH3B lnc-BSX-3 JHY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the BSX gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • Sp1

Genomic Locations for BSX Gene

Latest Assembly
chr11:122,977,570-122,981,834
(GRCh38/hg38)
Size:
4,265 bases
Orientation:
Minus strand

Previous Assembly
chr11:122,848,278-122,852,542
(GRCh37/hg19 by Entrez Gene)
Size:
4,265 bases
Orientation:
Minus strand

chr11:122,848,278-122,852,428
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for BSX Gene

Proteins for BSX Gene

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  2. Protein products for research
  3. Assay products for research

  • 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

InterPro:

Suggested Antigen Peptide Sequences for BSX Gene

GenScript: Design optimal peptide antigens:
  • Brain-specific homeobox protein homolog (BSH_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for BSX Gene

UniProtKB/Swiss-Prot Function:
DNA binding protein that function as transcriptional activator. Is essential 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:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:1990837 sequence-specific double-stranded DNA binding IDA 28473536
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:
  • Bsx Bsx<tm2Tre>
  • Bsx Bsx<tm1Tre>
  • Bsx Bsx<tm1Aoh>
  • Bsx Bsx<tm2Aoh>

Animal Models for research

Inhibitory RNAs for research

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

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 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BSX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex 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

PathCards logo

SuperPathways for BSX Gene

No Data Available

Gene Ontology (GO) - Biological Process for BSX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for BSX Gene

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  2. miRNA products for research
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mRNA/cDNA for BSX Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 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 BSX

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

No ASD Table

Relevant External Links for BSX Gene

GeneLoc Exon Structure for
BSX

Expression for BSX Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for BSX Gene
mRNA expression by GTEx for BSX GenemRNA expression by BioGPS 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).

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

SOURCE GeneReport for Unigene cluster for BSX Gene:

Hs.449687

Evidence on tissue expression from TISSUES for BSX Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with BSX: view

Primer products for research

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 29 30
  • 99.71 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BSX 29 30
  • 92.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BSX 29 30
  • 92.24 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BSX 30
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bsx 29 16 30
  • 88.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bsx 29
  • 87.5 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia BSX 30
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BSX 29 30
  • 76.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BSX 30
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bsx 29
  • 67.42 (n)
Zebrafish
(Danio rerio)
 Actinopterygii bsx 29 30
  • 65.49 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta bsh 30
  • 26 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea tab-1 30
  • 41 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 22 (a)
 OneToOne
Species where no ortholog for BSX 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)
  • 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)

Evolution for BSX Gene

ENSEMBL:
Gene Tree for BSX (if available)
TreeFam:
Gene Tree for BSX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BSX: view image
Alliance of Genome Resources:
Additional Orthologs for BSX

Paralogs for BSX Gene

Paralogs for BSX Gene

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

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

Variants for BSX Gene

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  1. SNP Genotyping and Copy Number Assays for research

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

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
932662 Likely Benign: not provided 122,977,682(-) C/T
NM_001098169.2(BSX):c.669G>A (p.Glu223=) 		SYNONYMOUS
rs190227799 Benign: not provided 122,979,270(-) G/A
NM_001098169.2(BSX):c.450C>T (p.Ser150=) 		SYNONYMOUS
rs61737276 Benign: not provided 122,977,661(-) C/A
NM_001098169.2(BSX):c.690G>T (p.Pro230=) 		SYNONYMOUS
rs61737277 Benign: not provided 122,977,658(-) G/T
NM_001098169.2(BSX):c.693C>A (p.His231Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BSX 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 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
Leiden Open Variation Database (LOVD)
BSX

SNP Genotyping and Copy Number Assays for research

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

Disorders for BSX Gene

MalaCards: The human disease database

(4) MalaCards diseases for BSX Gene - From: COP and GCD

- 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

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 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 40
  2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  3. Impact of cytosine methylation on DNA binding specificities of human transcription factors. (PMID: 28473536) Yin Y … Taipale J (Science (New York, N.Y.) 2017) 3
  4. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

ExternalLinks

View latest publications for BSX gene in Mastermind

Products for BSX Gene

Sources for BSX Gene