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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BSPRY
B-box and SPRY domain containing
Chromosome 9 · 9q32
NCBI Gene: 54836Ensembl: ENSG00000119411.12HGNC: HGNC:18232UniProt: Q5W0U4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolubiquitin protein ligase activityinnate immune responsecytoplasmimmunodeficiency 86immune deficiency, familial variableclassic Hodgkin lymphomaHodgkins lymphoma
✦AI Summary

BSPRY (B-box and SPRY domain containing protein) is a regulatory protein primarily involved in epithelial calcium homeostasis and early embryonic development. Functionally, BSPRY serves as a negative regulator of epithelial calcium transport by inhibiting TRPV5 (transient receptor potential vanilloid 5) channel activity 1. BSPRY interacts directly with TRPV5 and reduces calcium influx in kidney epithelial cells without affecting channel surface expression, suggesting it acts as an intracellular modulator of channel function 1. The protein is part of a coordinated regulatory network alongside calbindin-D28k and klotho that collectively controls calcium homeostasis at multiple cellular levels 2. BSPRY expression is inversely regulated by vitamin D3, indicating involvement in calciotropic hormone signaling 1. Beyond calcium regulation, BSPRY maintains embryonic stem cell pluripotency; knockdown reduces undifferentiated colonies while overexpression increases them, and manipulation of BSPRY levels affects early embryonic development and inner cell mass formation 3. The protein contains structural domains (B-box and SPRY) characteristic of proteins involved in innate immunity 4, and genetic variants near BSPRY show association with cleft lip and palate, suggesting roles in facial development 5. These findings position BSPRY as a multifunctional regulatory protein linking calcium metabolism, embryonic development, and potentially immune processes.

Sources cited
1
BSPRY inhibits TRPV5 activity and reduces calcium influx; expression is inversely regulated by vitamin D3
PMID: 16380433
2
BSPRY functions in concerted regulation of TRPV5/TRPV6 calcium channels alongside other proteins
PMID: 17233615
3
BSPRY maintains embryonic stem cell pluripotency and is essential for early embryonic development
PMID: 22972184
4
SPRY domain proteins are implicated in innate immunity regulation
PMID: 23139046
5
BSPRY variants are associated with cleft lip and palate and facial development
PMID: 19929093
Disease Associationsⓘ20
immunodeficiency 86Open Targets
0.05Suggestive
immune deficiency, familial variableOpen Targets
0.05Suggestive
classic Hodgkin lymphomaOpen Targets
0.05Suggestive
Hodgkins lymphomaOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.05Suggestive
multiple myelomaOpen Targets
0.04Suggestive
hyper-IgM syndrome type 2Open Targets
0.04Suggestive
agammaglobulinemia 10, autosomal dominantOpen Targets
0.04Suggestive
MHC class II deficiency 5Open Targets
0.04Suggestive
macroglobulinemia, Waldenstrom, 1Open Targets
0.04Suggestive
hyper-IgM syndrome type 5Open Targets
0.04Suggestive
atopic eczemaOpen Targets
0.04Suggestive
IgE responsiveness, atopicOpen Targets
0.04Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.04Suggestive
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiencyOpen Targets
0.04Suggestive
immunodeficiency 35Open Targets
0.04Suggestive
epidermolytic palmoplantar keratoderma, 1Open Targets
0.04Suggestive
immunodeficiency, common variable, 14Open Targets
0.04Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.04Suggestive
immunodeficiency, common variable, 4Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB131BShared pathway100%DEFB131AShared pathway100%DEFB134Shared pathway100%TRIM74Shared pathway100%TRIM73Shared pathway100%BPIFB3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
13%
Lung
7%
Heart
4%
Liver
2%
Ovary
0%
Gene Interaction Network
Click a node to explore
BSPRYDEFB131BDEFB131ADEFB134TRIM74TRIM73BPIFB3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5W0U4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.69–1.22]
RankingsWhere BSPRY stands among ~20K protein-coding genes
  • #14,369of 20,598
    Most Researched19
  • #12,796of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedBSPRY
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Identification of BSPRY as a novel auxiliary protein inhibiting TRPV5 activity.
PMID: 16380433
J Am Soc Nephrol · 2006
1.00
2
Concerted action of associated proteins in the regulation of TRPV5 and TRPV6.
PMID: 17233615
Biochem Soc Trans · 2007
0.89
3
Gene expression correlations in human cancer cell lines define molecular interaction networks for epithelial phenotype.
PMID: 24940735
PLoS One · 2014
0.78
4
BSPRY, a novel protein of the Ro-Ret family.
PMID: 10978534
Biochim Biophys Acta · 2000
0.67
5
A proteomic approach to study parathyroid glands.
PMID: 21180715
Mol Biosyst · 2011
0.56