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 Sjogren-Larsson Syndrome. 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 NANOGP8.

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 0.7 ENCODE 600.7 -0.1 -104 0.2 REST TFE3 PATZ1 EZH2 ZBTB20 SP2 ZNF766 AFF1 MIER1 EHMT2 BSX lnc-HSPA8-3 MF588795 HSPA8
GH11J122882 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 11.1 +98.7 98733 2.6 PRDM10 FOXA1 LARP7 ZIC2 PATZ1 EZH2 POLR2A YY1 ZNF341 ZFX JHY CRTAM BSX RF00017-1055
GH11J122855 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +125.2 125210 2.3 SP1 BACH1 JUND STAT3 PRDM1 RELA TCF12 IKZF2 TRIM22 EED lnc-BSX-3 JHY BSX CRTAM
GH11J123082 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10 -103.9 -103866 6.6 PRDM10 ZNF629 RFX1 IKZF1 ZNF692 JUND FOXA1 PRDM1 PKNOX1 NR2C1 CLMP BSX JHY piR-44093-001 HSALNG0087809 ENSG00000288061 HSPA8
GH11J122864 Promoter/Enhancer 0.9 Ensembl ENCODE 10.8 +117.2 117233 1.6 CTCF ZNF512 PRDM1 REST RAD21 TRIM22 RUNX3 ZNF316 SMC3 NR2F1 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

Genomic Locations for BSX Gene
chr11:122,977,570-122,981,834
(GRCh38/hg38)
Size:
4,265 bases
Orientation:
Minus strand
chr11:122,848,278-122,852,428
(GRCh37/hg19)
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0043565 sequence-specific DNA binding IBA 21873635
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 Model Products

CRISPR Products

Inhibitory RNA Products

  • 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
plasma membrane 1
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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for BSX Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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 :

CRISPR Products

Inhibitory RNA Products

  • 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
  2. Gene Expression Assay

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(2.6)
genes like me logo Genes that share expression patterns with BSX: view

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 30 31
  • 99.71 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BSX 30 31
  • 92.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BSX 30 31
  • 92.24 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BSX 31
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bsx 30 17 31
  • 88.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bsx 30
  • 87.5 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia BSX 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BSX 30 31
  • 76.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BSX 31
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bsx 30
  • 67.42 (n)
Zebrafish
(Danio rerio)
 Actinopterygii bsx 30 31
  • 65.49 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta bsh 31
  • 26 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea tab-1 31
  • 41 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 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

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

Products:

  1. SNP Genotyping and Copy Number Assay

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
716976 Benign: not provided 122,977,661(-) C/A SYNONYMOUS_VARIANT
727705 Benign: not provided 122,979,270(-) G/A SYNONYMOUS_VARIANT
768492 Benign: not provided 122,977,658(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BSX Gene

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

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

Disorder Aliases PubMed IDs
jacobsen syndrome
  • jbs
sjogren-larsson syndrome
  • sls
autoimmune glomerulonephritis
brooke-spiegler syndrome
  • cylindromatosis, familial
- 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
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 41
  2. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. (PMID: 25231870) Perry JR … Ong KK (Nature 2014) 3
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  4. 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
  5. A census of human transcription factors: function, expression and evolution. (PMID: 19274049) Vaquerizas JM … Luscombe NM (Nature reviews. Genetics 2009) 3

ExternalLinks

View latest publications for BSX gene in Mastermind

Products for BSX Gene

Sources for BSX Gene