Aliases for BSPRY Gene

Aliases for BSPRY Gene

  • B-Box And SPRY Domain Containing 2 3 5
  • B Box And SPRY Domain-Containing Protein 3 4
  • B-Box And SPRY-Domain Containing Protein 3
  • FLJ20150 2
  • Zetin 1 3
  • BSPRY 5

External Ids for BSPRY Gene

Previous GeneCards Identifiers for BSPRY Gene

  • GC09P107843
  • GC09P109565
  • GC09P111487
  • GC09P113191
  • GC09P115151
  • GC09P116111
  • GC09P085719

Summaries for BSPRY Gene

GeneCards Summary for BSPRY Gene

BSPRY (B-Box And SPRY Domain Containing) is a Protein Coding gene. Diseases associated with BSPRY include Kleefstra Syndrome 1. An important paralog of this gene is TRIM55.

UniProtKB/Swiss-Prot Summary for BSPRY Gene

  • May regulate epithelial calcium transport by inhibiting TRPV5 activity.

Additional gene information for BSPRY Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BSPRY Gene

Genomics for BSPRY Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BSPRY Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J113349 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 628.9 +0.8 840 2.8 KDM1A JUND LARP7 ZIC2 EZH2 GTF2F1 ZFX EED DPF2 SMARCA5 BSPRY lnc-C9orf43-3 WDR31 ALAD RNF183 HDHD3
GH09J113347 Enhancer 0.6 Ensembl ENCODE 628.7 -1.4 -1440 0.6 OSR2 ATF4 MEIS2 ZBTB6 SP7 EZH2 BSPRY PRPF4 RNF183 ALAD POLE3 C9orf43 WDR31 RF00017-7837
GH09J113343 Enhancer 1.1 Ensembl ENCODE dbSUPER 31.7 -5.5 -5540 1.6 PRDM10 ZNF629 ZNF692 PHF21A ZIC2 PKNOX1 PATZ1 REST HDAC1 SOX6 RF00017-7837 BSPRY HDHD3 WDR31 lnc-BSPRY-1
GH09J113339 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 -9.4 -9440 1.8 BRCA1 SP1 HNRNPL GATAD2A PRDM10 REST ZNF629 TFE3 RFX1 SIX5 WDR31 lnc-BSPRY-1 PRPF4 CDC26 BSPRY RNF183 ALAD C9orf43 POLE3 HDHD3
GH09J113372 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.4 +28.5 28459 11.9 ARHGAP35 SP1 GATAD2A REST TFE3 ZNF512 IKZF1 NFKBIZ ZNF692 POLR2A HDHD3 lnc-ALAD-2 piR-30350-065 RGS3 PRPF4 C9orf43 POLE3 RNF183 ALAD CDC26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the BSPRY gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • c-Myc
  • FOXO1a
  • HFH-1
  • Max
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2

Genomic Locations for BSPRY Gene

Genomic Locations for BSPRY Gene
21,693 bases
Plus strand
21,702 bases
Plus strand

Genomic View for BSPRY Gene

Genes around BSPRY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BSPRY Gene

Proteins for BSPRY Gene

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

    Protein Symbol:
    Recommended name:
    B box and SPRY domain-containing protein
    Protein Accession:
    Secondary Accessions:
    • B3KS19
    • Q96DJ2
    • Q9H4E4
    • Q9NXN0

    Protein attributes for BSPRY Gene

    402 amino acids
    Molecular mass:
    44381 Da
    Quaternary structure:
    • Interacts with TRPV5 and TRPV6. Interacts with YWHAZ/14-3-3 protein zeta (By similarity).
    • Sequence=BAA90980.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BSPRY Gene


neXtProt entry for BSPRY Gene

Post-translational modifications for BSPRY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BSPRY Gene

No data available for DME Specific Peptides for BSPRY Gene

Domains & Families for BSPRY Gene

Gene Families for BSPRY Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BSPRY Gene

  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain
  • B-box zinc finger signature

Suggested Antigen Peptide Sequences for BSPRY Gene

GenScript: Design optimal peptide antigens:
  • B box and SPRY domain-containing protein (BSPRY_HUMAN)
genes like me logo Genes that share domains with BSPRY: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BSPRY Gene

Function for BSPRY Gene

Molecular function for BSPRY Gene

UniProtKB/Swiss-Prot Function:
May regulate epithelial calcium transport by inhibiting TRPV5 activity.

Phenotypes From GWAS Catalog for BSPRY Gene

Gene Ontology (GO) - Molecular Function for BSPRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with BSPRY: view
genes like me logo Genes that share phenotypes with BSPRY: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for BSPRY Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSPRY Gene

Cytoplasm. Membrane. Peripheral membrane protein.

Subcellular locations from

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 BSPRY gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BSPRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0031252 cell leading edge IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with BSPRY: view

Pathways & Interactions for BSPRY Gene

PathCards logo

SuperPathways for BSPRY Gene

No Data Available

Gene Ontology (GO) - Biological Process for BSPRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0016567 protein ubiquitination IBA 21873635
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with BSPRY: view

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

Drugs & Compounds for BSPRY Gene

(1) Drugs for BSPRY Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with BSPRY: view

Transcripts for BSPRY Gene

mRNA/cDNA for BSPRY Gene

8 NCBI additional mRNA sequence :
2 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 BSPRY

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

No ASD Table

Relevant External Links for BSPRY Gene

GeneLoc Exon Structure for

Expression for BSPRY Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pancreas (x6.0) and Esophagus - Mucosa (x4.2).

Protein differential expression in normal tissues from HIPED for BSPRY Gene

This gene is overexpressed in Salivary gland (44.3) and Skin (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BSPRY Gene

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

SOURCE GeneReport for Unigene cluster for BSPRY Gene:


Evidence on tissue expression from TISSUES for BSPRY Gene

  • Intestine(4.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with BSPRY: view

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

Orthologs for BSPRY Gene

This gene was present in the common ancestor of chordates.

Orthologs for BSPRY Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BSPRY 30 31
  • 99.25 (n)
(Bos Taurus)
Mammalia BSPRY 30 31
  • 88.2 (n)
(Canis familiaris)
Mammalia BSPRY 30 31
  • 86.35 (n)
(Mus musculus)
Mammalia Bspry 30 17 31
  • 83.33 (n)
(Rattus norvegicus)
Mammalia Bspry 30
  • 82.41 (n)
(Monodelphis domestica)
Mammalia BSPRY 31
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia BSPRY 31
  • 72 (a)
(Gallus gallus)
Aves BSPRY 30 31
  • 68.86 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bspry 30
  • 64.56 (n)
Str.16295 30
(Danio rerio)
Actinopterygii bspry 30 31
  • 50.44 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
Species where no ortholog for BSPRY 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for BSPRY Gene

Gene Tree for BSPRY (if available)
Gene Tree for BSPRY (if available)
Evolutionary constrained regions (ECRs) for BSPRY: view image

Paralogs for BSPRY Gene

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

Variants for BSPRY Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs3088235 - p.Thr374Ile
rs34089316 - p.Ala261Pro
rs818711 - p.Gln293His

Additional dbSNP identifiers (rs#s) for BSPRY Gene

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

Variant ID Type Subtype PubMed ID
esv2657221 CNV deletion 23128226
esv3576690 CNV gain 25503493
esv3621540 CNV gain 21293372
esv3621543 CNV loss 21293372
nsv1036586 CNV gain 25217958
nsv519849 CNV gain 19592680
nsv615214 CNV gain 21841781
nsv819179 CNV gain 19587683

Variation tolerance for BSPRY Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BSPRY Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for BSPRY Gene

MalaCards: The human disease database

(1) MalaCards diseases for BSPRY Gene - From: DISEASES

Disorder Aliases PubMed IDs
kleefstra syndrome 1
  • klefs1
- elite association - COSMIC cancer census association via MalaCards
Search BSPRY in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BSPRY

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BSPRY: view

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

Publications for BSPRY Gene

  1. Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). (PMID: 19929093) Machida J … Ono T (The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2009) 3 23 41
  2. BSPRY, a novel protein of the Ro-Ret family. (PMID: 10978534) Schenker T … Trueb B (Biochimica et biophysica acta 2000) 2 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for BSPRY Gene

Sources for BSPRY Gene