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Aliases for BSPRY Gene

Aliases for BSPRY Gene

  • B-Box And SPRY Domain Containing 2 3 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. An important paralog of this gene is TRIM14.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for BSPRY Gene

Genomics for BSPRY Gene

GeneHancer (GH) Regulatory Elements for BSPRY Gene

Promoters and enhancers for BSPRY 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
GH09I113349 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 579 +0.9 904 2.7 SIN3A ZBTB40 RFX5 ZNF335 ELK1 ZSCAN5C ZNF143 FOS RCOR1 SMARCA5 BSPRY WDR31 ALAD RNF183 HDHD3
GH09I113347 Enhancer 0.5 ENCODE 578.8 -1.5 -1467 0.4 OSR2 MEIS2 ATF4 ZBTB6 EZH2 BSPRY PRPF4 RNF183 ALAD POLE3 C9orf43 WDR31
GH09I113343 Enhancer 1.2 Ensembl ENCODE dbSUPER 31.6 -5.6 -5638 1.2 HDAC1 PKNOX1 ATF1 NFIB ZNF335 ATF7 PHF21A ZBTB11 USF2 REST BSPRY HDHD3 WDR31
GH09I113339 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.1 -9.4 -9374 1.7 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 WDR31 PRPF4 CDC26 BSPRY RNF183 RPL32P22 ALAD C9orf43 POLE3 HDHD3
GH09I113372 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 7.4 +28.5 28468 11.9 HDGF PKNOX1 CLOCK FOXA2 ARNT MLX ARID4B SIN3A DMAP1 YBX1 HDHD3 PRPF4 POLE3 C9orf43 RNF183 ALAD CDC26 BSPRY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BSPRY on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for BSPRY Gene

Genomic Locations for BSPRY Gene
chr9:113,349,532-113,371,233
(GRCh38/hg38)
Size:
21,702 bases
Orientation:
Plus strand
chr9:116,111,812-116,133,513
(GRCh37/hg19)

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:
    Q5W0U4-BSPRY_HUMAN
    Recommended name:
    B box and SPRY domain-containing protein
    Protein Accession:
    Q5W0U4
    Secondary Accessions:
    • B3KS19
    • Q96DJ2
    • Q9H4E4
    • Q9NXN0

    Protein attributes for BSPRY Gene

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

    Alternative splice isoforms for BSPRY Gene

    UniProtKB/Swiss-Prot:

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

Suggested Antigen Peptide Sequences for BSPRY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
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

Clone Products

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

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 BSPRY gene
Compartment Confidence
nucleus 3
cytosol 3

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 --
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

SuperPathways for BSPRY Gene

No Data Available

Gene Ontology (GO) - Biological Process for BSPRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
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 Approved Nutra 0
genes like me logo Genes that share compounds with BSPRY: view

Transcripts for BSPRY Gene

Unigene Clusters for BSPRY Gene

B-box and SPRY domain containing:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for BSPRY Gene

GeneLoc Exon Structure for
BSPRY
ECgene alternative splicing isoforms for
BSPRY

Expression for BSPRY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of BSPRY Gene:

BSPRY

SOURCE GeneReport for Unigene cluster for BSPRY Gene:

Hs.614517

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
chimpanzee
(Pan troglodytes)
Mammalia BSPRY 33 34
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia BSPRY 33 34
  • 88.2 (n)
dog
(Canis familiaris)
Mammalia BSPRY 33 34
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Bspry 33 16 34
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Bspry 33
  • 82.41 (n)
oppossum
(Monodelphis domestica)
Mammalia BSPRY 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BSPRY 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BSPRY 33 34
  • 68.86 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia bspry 33
  • 64.56 (n)
Str.16295 33
zebrafish
(Danio rerio)
Actinopterygii bspry 33 34
  • 50.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
OneToMany
Species where no ortholog for BSPRY 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)
  • 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 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

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

Paralogs for BSPRY Gene

Paralogs for BSPRY Gene

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

Variants for BSPRY Gene

Sequence variations from dbSNP and Humsavar for BSPRY Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000080196 -- 113,349,882(+) C/T intron_variant
rs1000140313 -- 113,366,024(+) C/T intron_variant
rs1000283965 -- 113,369,494(+) G/A intron_variant
rs1000337984 -- 113,355,918(+) A/T intron_variant
rs1000406186 -- 113,362,873(+) G/T intron_variant

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
BSPRY

SNP Genotyping and Copy Number Assay Products

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

Disorders for BSPRY Gene

Additional Disease Information for BSPRY

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BSPRY Gene.

No data available for MalaCards , 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 22 44 58
  2. BSPRY, a novel protein of the Ro-Ret family. (PMID: 10978534) Schenker T … Trueb B (Biochimica et biophysica acta 2000) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  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 58

Products for BSPRY Gene

Sources for BSPRY Gene

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