BSPRY

Summary

BSPRY (B-box and SPRY domain containing, HGNC:18232) is a protein-coding gene on chromosome 9q32, encoding B box and SPRY domain-containing protein (Q5W0U4). May regulate epithelial calcium transport by inhibiting TRPV5 activity.

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in cytosol.

Source: NCBI Gene 54836 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 95 total — 1 pathogenic
• GTEx eGene: eQTL in 35 tissues, sQTL in 9 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.22 (unconstrained)
• MANE Select transcript: NM_017688
• Notable: 95 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18232
Approved symbol	BSPRY
Name	B-box and SPRY domain containing
Location	9q32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20150
Ensembl gene	ENSG00000119411
Ensembl biotype	protein_coding
OMIM	619683
Entrez	54836

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000374183

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2

ENST00000374183, ENST00000462085, ENST00000886063, ENST00000886064, ENST00000886065, ENST00000886066, ENST00000921757, ENST00000921758, ENST00000921759, ENST00000921760, ENST00000952340, ENST00000952341, ENST00001022471, ENST00001022472, ENST00001022474, ENST00001115022, ENST00001124440, ENST00001124441, ENST00001136007

RefSeq mRNA: 3 — MANE Select: NM_017688 NM_001317943, NM_001317944, NM_017688

CCDS: CCDS43868

Canonical transcript exons

ENST00000374183 — 6 exons

Exon	Start	End
ENSE00000806248	113368259	113368383
ENSE00001945800	113349541	113349780
ENSE00003521840	113354240	113354338
ENSE00003569409	113369616	113371222
ENSE00003570953	113362369	113362394
ENSE00003634014	113360507	113360737

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 98.51.

FANTOM5 (CAGE): breadth broad, TPM avg 4.7111 / max 169.5902, expressed in 541 samples.

Highest expression (Bgee): parotid gland, body of pancreas, lower esophagus mucosa, cervix squamous epithelium, type B pancreatic cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BSPRY is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 9 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 44 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Atrial Appendage	eqtl	8.1e-83	+0.89	9:113343814:A:G
Pancreas	eqtl	1.2e-82	-0.92	9:113350183:A:C
Heart Left Ventricle	eqtl	1.2e-75	+0.76	9:113343814:A:G
Skin Sun Exposed Lower leg	sqtl	3.3e-43	+0.93	9:113368230:ATC:A
Thyroid	sqtl	1.8e-39	+0.69	9:113361022:A:C
Skin Not Sun Exposed Suprapubic	sqtl	9.4e-38	+0.92	9:113368230:ATC:A
Artery Tibial	eqtl	4.9e-32	+0.54	9:113343432:C:T
Whole Blood	eqtl	2.1e-30	-0.34	9:113351116:C:T
Brain Cortex	eqtl	4.1e-27	+0.79	9:113343814:A:G
Thyroid	eqtl	5.3e-26	+0.27	9:113343814:A:G
Esophagus Mucosa	sqtl	2.6e-24	+0.81	9:113368230:ATC:A
Brain Frontal Cortex BA9	eqtl	4.3e-22	+0.80	9:113346389:G:A
Lung	eqtl	5.6e-20	+0.22	9:113344053:G:A
Esophagus Mucosa	eqtl	2.7e-19	-0.20	9:113364728:T:C
Pancreas	sqtl	2.1e-17	+1.08	9:113369399:A:G
Colon Sigmoid	eqtl	2.5e-17	+0.40	9:113343432:C:T
Skin Not Sun Exposed Suprapubic	eqtl	6.7e-17	+0.33	9:113369812:G:C
Pituitary	eqtl	4.0e-15	+0.38	9:113361022:A:C
Spleen	eqtl	7.3e-15	-0.65	9:113351116:C:T
Brain Anterior cingulate cortex BA24	eqtl	8.4e-14	+0.56	9:113323542:A:G

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
98082	4.7111	541

Top tissues by expression

showing 100 of 270 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.51	gold quality
body of pancreas	UBERON:0001150	92.92	gold quality
lower esophagus mucosa	UBERON:0035834	92.73	gold quality
cervix squamous epithelium	UBERON:0006922	92.48	silver quality
type B pancreatic cell	CL:0000169	91.12	gold quality
saliva-secreting gland	UBERON:0001044	90.95	gold quality
tongue squamous epithelium	UBERON:0006919	90.47	gold quality
palpebral conjunctiva	UBERON:0001812	89.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.58	gold quality
squamous epithelium	UBERON:0006914	89.41	gold quality
pancreas	UBERON:0001264	89.37	gold quality
esophagus mucosa	UBERON:0002469	89.32	gold quality
minor salivary gland	UBERON:0001830	89.21	gold quality
left lobe of thyroid gland	UBERON:0001120	89.19	gold quality
esophagus squamous epithelium	UBERON:0006920	89.11	gold quality
epithelium of esophagus	UBERON:0001976	89.01	gold quality
thyroid gland	UBERON:0002046	88.97	gold quality
mouth mucosa	UBERON:0003729	88.96	gold quality
right lobe of thyroid gland	UBERON:0001119	88.85	gold quality
skin of leg	UBERON:0001511	88.44	gold quality
nasal cavity mucosa	UBERON:0001826	88.27	gold quality
nasal cavity epithelium	UBERON:0005384	87.74	gold quality
mucosa of transverse colon	UBERON:0004991	87.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.34	gold quality
gingival epithelium	UBERON:0001949	87.33	gold quality
skin of abdomen	UBERON:0001416	87.22	gold quality
gingiva	UBERON:0001828	86.69	gold quality
zone of skin	UBERON:0000014	86.66	gold quality
islet of Langerhans	UBERON:0000006	86.52	gold quality
nucleus accumbens	UBERON:0001882	86.26	gold quality
upper arm skin	UBERON:0004263	85.79	gold quality
putamen	UBERON:0001874	84.86	gold quality
caudate nucleus	UBERON:0001873	84.49	gold quality
body of stomach	UBERON:0001161	84.36	gold quality
oviduct epithelium	UBERON:0004804	84.29	gold quality
oral cavity	UBERON:0000167	83.50	gold quality
pancreatic ductal cell	CL:0002079	82.22	silver quality
cervix epithelium	UBERON:0004801	82.05	gold quality
stomach	UBERON:0000945	81.55	gold quality
epithelium of mammary gland	UBERON:0003244	81.21	gold quality
rectum	UBERON:0001052	81.11	gold quality
colonic mucosa	UBERON:0000317	81.00	gold quality
corpus epididymis	UBERON:0004359	80.69	gold quality
mammary duct	UBERON:0001765	80.66	gold quality
upper leg skin	UBERON:0004262	80.66	gold quality
adult mammalian kidney	UBERON:0000082	80.39	gold quality
metanephros cortex	UBERON:0010533	80.37	gold quality
diaphragm	UBERON:0001103	80.02	gold quality
mucosa of sigmoid colon	UBERON:0004993	79.99	gold quality
amniotic fluid	UBERON:0000173	79.65	gold quality
caput epididymis	UBERON:0004358	79.56	gold quality
epithelium of bronchus	UBERON:0002031	79.54	gold quality
nephron tubule	UBERON:0001231	79.40	gold quality
bronchus	UBERON:0002185	79.28	gold quality
trachea	UBERON:0003126	79.23	gold quality
transverse colon	UBERON:0001157	79.01	gold quality
ileal mucosa	UBERON:0000331	78.29	gold quality
olfactory bulb	UBERON:0002264	78.28	gold quality
mammalian vulva	UBERON:0000997	78.22	gold quality
bronchial epithelial cell	CL:0002328	78.21	gold quality
duodenum	UBERON:0002114	78.14	gold quality
pituitary gland	UBERON:0000007	77.79	gold quality
mucosa of paranasal sinus	UBERON:0005030	77.75	silver quality
nipple	UBERON:0002030	77.70	gold quality
epithelium of nasopharynx	UBERON:0001951	77.50	gold quality
kidney	UBERON:0002113	76.98	gold quality
tonsil	UBERON:0002372	76.82	gold quality
endothelial cell	CL:0000115	76.73	silver quality
adenohypophysis	UBERON:0002196	76.69	gold quality
pharyngeal mucosa	UBERON:0000355	76.67	gold quality
renal medulla	UBERON:0000362	76.50	gold quality
kidney epithelium	UBERON:0004819	76.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.71	gold quality
cardia of stomach	UBERON:0001162	75.46	gold quality
pylorus	UBERON:0001166	75.27	gold quality
penis	UBERON:0000989	75.25	gold quality
skin of hip	UBERON:0001554	75.12	gold quality
cauda epididymis	UBERON:0004360	75.09	gold quality
upper lobe of left lung	UBERON:0008952	74.97	gold quality
jejunal mucosa	UBERON:0000399	74.93	gold quality
mammary gland	UBERON:0001911	74.88	gold quality
upper lobe of lung	UBERON:0008948	74.87	gold quality
fundus of stomach	UBERON:0001160	74.85	gold quality
fallopian tube	UBERON:0003889	74.84	gold quality
thoracic mammary gland	UBERON:0005200	74.72	gold quality
vagina	UBERON:0000996	73.84	gold quality
gall bladder	UBERON:0002110	73.60	gold quality
hair follicle	UBERON:0002073	73.38	gold quality
right adrenal gland	UBERON:0001233	73.28	gold quality
cortex of kidney	UBERON:0001225	73.27	gold quality
large intestine	UBERON:0000059	72.84	gold quality
esophagus	UBERON:0001043	72.58	gold quality
colon	UBERON:0001155	72.55	gold quality
right uterine tube	UBERON:0001302	72.52	gold quality
epithelial cell of pancreas	CL:0000083	72.39	silver quality
right adrenal gland cortex	UBERON:0035827	72.32	gold quality
left adrenal gland	UBERON:0001234	72.15	gold quality
intestine	UBERON:0000160	72.11	gold quality
prostate gland	UBERON:0002367	72.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.43

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Parathyroid gland	tissue	420.6	high
Salivary gland	tissue	76.9	low
Pancreas	tissue	38.7	not detected
Thyroid gland	tissue	28.3	not detected
Nucleus accumbens	tissue	23.4
Skin 1	tissue	18.2	not detected
Esophagus	tissue	16.7	not detected
Stomach 1	tissue	14.5	not detected
Breast	tissue	13.7	not detected
Colon	tissue	11.3	not detected
Rectum	tissue	10.3	not detected
Epididymis	tissue	10.3	not detected
Duodenum	tissue	8.3	not detected
Kidney	tissue	8.0	not detected
Pituitary gland	tissue	7.7
Vagina	tissue	7.2	not detected
Small intestine	tissue	6.6	not detected
Retina	tissue	6.4
Cervix	tissue	6.1	not detected
Postcentral gyrus	tissue	5.8
Bone marrow	tissue	5.6	not detected
Lung	tissue	5.3	not detected
Cerebellum	tissue	4.8	not detected
Hippocampus	tissue	4.3	not detected
Seminal vesicle	tissue	4.2	not detected
Gallbladder	tissue	4.2	not detected
Fallopian tube	tissue	4.1	not detected
Prostate	tissue	3.4	not detected
Tonsil	tissue	2.9	not detected
Urinary bladder	tissue	2.8	not detected
Locus coeruleus	tissue	2.5
Appendix	tissue	2.5	not detected
Choroid plexus	tissue	2.3
Testis	tissue	1.7	not detected
Thymus	tissue	1.6
Placenta	tissue	1.5	not detected
Heart muscle	tissue	1.4	not detected
Endometrium 1	tissue	1.0	not detected
Adrenal gland	tissue	1.0	not detected
Lymph node	tissue	0.8	not detected
Basal ganglia	tissue	0.7	not detected
Smooth muscle	tissue	0.6	not detected
Midbrain	tissue	0.6
Spinal cord	tissue	0.6
Spleen	tissue	0.5	not detected
Pons	tissue	0.4
Putamen	tissue	0.4
Thalamus	tissue	0.4
Superior colliculi	tissue	0.4
Liver	tissue	0.4	not detected
Hippocampal formation	tissue	0.4
Entorhinal cortex	tissue	0.4
Olfactory bulb	tissue	0.4
Prefrontal cortex	tissue	0.3
Cerebral cortex	tissue	0.3	not detected
Adipose tissue	tissue	0.3	not detected
Amygdala	tissue	0.3
Medulla oblongata	tissue	0.3
Hypothalamus	tissue	0.3
Substantia nigra	tissue	0.3

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Caudate nucleus (23.0), Nucleus basalis of Meynert (12.9), Habenula (12.4), Cerebellar cortex (12.1), Ventral posteromedial thalamic nucleus (12.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting BSPRY by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 34 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-663B	97.40	62.91	664

Functional genomics

gnomAD constraint: pLI 2.72e-11, LOEUF 1.22, missense Z -0.409 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000374183 — one region, missense o/e 0.98.

Literature-anchored findings (GeneRIF, showing 1)

• Expression analysis of the rat BSPRY ortholog and demonstration of its interaction with 14-3-3 proteins. (PMID:12615066)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bspry	ENSMUSG00000028392
rattus_norvegicus	Bspry	ENSRNOG00000015105

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022), TRIM58 (ENSG00000162722), TRIM17 (ENSG00000162931), TRIM46 (ENSG00000163462), TRIM44 (ENSG00000166326), TRIM66 (ENSG00000166436), TRIM68 (ENSG00000167333), TRIM49 (ENSG00000168930), TRIM56 (ENSG00000169871), TRIM8 (ENSG00000171206), TRIM60 (ENSG00000176979), TRIM72 (ENSG00000177238), TRIM73 (ENSG00000178809), TRIML2 (ENSG00000179046), TRIM49B (ENSG00000182053), TRIM61 (ENSG00000183439), TRIM52 (ENSG00000183718), TRIML1 (ENSG00000184108), TRIM69 (ENSG00000185880), TRIM64B (ENSG00000189253), TRIM33 (ENSG00000197323)

+20 more (showing top 60).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Sus scrofa	Q9TSW0	81.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RNF183	protein-coding	138065
HDHD3	protein-coding	81932
PRPF4	protein-coding	9128
WDR31	protein-coding	114987
ALAD	protein-coding	210
C9orf43	protein-coding	257169
POLE3	protein-coding	54107
RGS3	protein-coding	5998
CDC26	protein-coding	246184

Protein

Protein identifiers

B box and SPRY domain-containing protein — Q5W0U4 (reviewed: Q5W0U4)

All UniProt accessions (1): Q5W0U4

UniProt curated annotations — full annotation on UniProt →

Function. May regulate epithelial calcium transport by inhibiting TRPV5 activity.

Subunit / interactions. Interacts with TRPV5 and TRPV6. Interacts with YWHAZ/14-3-3 protein zeta.

Subcellular location. Cytoplasm. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5W0U4-1	1	yes
Q5W0U4-2	2

RefSeq proteins (3): NP_001304872, NP_001304873, NP_060158* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF13765

UniProt features (10 total): sequence variant 3, splice variant 2, chain 1, domain 1, zinc finger region 1, region of interest 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5W0U4-F1	92.75	0.83

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol

Antibody reliability (HPA): IH approved · IF uncertain

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 131 (showing top): GOBP_RESPONSE_TO_PEPTIDE, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, GOBP_MONOATOMIC_CATION_TRANSPORT, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_DENDRITIC_CELL, LIU_CMYB_TARGETS_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, ZHANG_GATA6_TARGETS_DN

GO Biological Process (3): calcium ion transport (GO:0006816), innate immune response (GO:0045087), monoatomic ion transport (GO:0006811)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

GO top-level categories

12 GO namespaces:

Category	Terms
cellular anatomical structure	3
metal ion transport	1
immune response	1
defense response to symbiont	1
transport	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 10 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
cytosol	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 408 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BSPRY	RNF207	Q6ZRF8	536
BSPRY	FSD1	Q9BTV5	484
BSPRY	NHLRC1	Q6VVB1	478
BSPRY	S100G	P29377	452
BSPRY	EMC8	O43402	394
BSPRY	NIF3L1	Q9GZT8	379
BSPRY	ADAMTS18	Q8TE60	371
BSPRY	SNRPA1	P09661	370
BSPRY	SLC31A2	O15432	370
BSPRY	WNK3	Q9BYP7	370
BSPRY	HDHD3	Q9BSH5	364
BSPRY	TRPV5	Q9NQA5	361
BSPRY	PPIL3	Q9H2H8	351
BSPRY	FSD2	A1L4K1	351
BSPRY	TRIM44	Q96DX7	347

IntAct

Human interaction partners of BSPRY in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
HSPD1	physical association	0.400	1
NS	physical association	0.370	3
NS2	physical association	0.370	1
ZYX	physical association	0.370	1
ANKRD17	association	0.350	1
DEAF1	association	0.350	1
SRGAP2	association	0.350	1

BioGRID (53 interactions; top human partners by supporting records): RAB11B (Affinity Capture-MS; 3 records), BTBD9 (Affinity Capture-MS; 2 records), CENPH (Affinity Capture-MS; 2 records), CEP55 (Affinity Capture-MS; 2 records), DEAF1 (Affinity Capture-MS; 2 records), FEM1B (Affinity Capture-MS; 2 records), HAUS1 (Affinity Capture-MS; 2 records), HAUS4 (Affinity Capture-MS; 2 records), HSBP1 (Affinity Capture-MS; 2 records), MBLAC2 (Affinity Capture-MS; 2 records), NCS1 (Affinity Capture-MS; 2 records), OSBPL1A (Affinity Capture-MS; 2 records), RNF135 (Affinity Capture-MS; 2 records), SEMG1 (Affinity Capture-MS; 2 records), SEMG2 (Affinity Capture-MS; 2 records)

Disease & clinical

Genetic variants

Variant evidence for BSPRY: 95 ClinVar records (1 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

95 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	83
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore BSPRY’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 40 predictions of 570):

Position(s)	Effect	Δscore	Sites
9:113360738–113360739	donor_loss	0.9900	6
9:113360748	donor_gain	0.9900
9:113369614–113369615	acceptor_loss	0.9900	6
9:113354237–113354239	acceptor_loss	0.9800	7
9:113360505–113360506	acceptor_loss	0.9800	6
9:113362395–113362396	donor_loss	0.9800	5
9:113369611	acceptor_gain	0.9800
9:113354320	donor_gain	0.9700
9:113360742	donor_loss	0.9700
9:113349781–113349782	donor_loss	0.9600	6

AlphaMissense

663 missense substitutions predicted likely pathogenic (of 2,607 scored), across 199 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F269	8	0.946	0.995
F367	8	0.904	0.983
H54	8	0.795	0.870
F391	8	0.783	0.971
W288	7	0.957	0.993
C41	7	0.954	0.981
C33	7	0.940	0.972
W272	7	0.927	0.975
W325	7	0.920	0.978
C22	7	0.918	0.967
F254	7	0.910	0.988
F32	7	0.900	0.987
C44	7	0.898	0.938
W218	7	0.866	0.948
H25	7	0.839	0.920
F334	7	0.802	0.961
C51	7	0.777	0.884
D359	7	0.726	0.785
D235	7	0.644	0.738
D72	7	0.629	0.710

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.34e-09
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000155
Lung Squamous Cell Carcinoma (TCGA)	unfavorable	0.000945

Disease associations

OMIM: gene MIM:619683 | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST90002399_131	Neutrophil percentage of white cells	5e-9
GCST002831_14	Lead levels in blood	3e-8

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
entinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
GSK-J4	decreases expression	1
trichostatin A	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
mercuric bromide	increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
perfluorohexanesulfonic acid	increases expression	1
belinostat	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Formaldehyde	decreases expression	1
Silicon Dioxide	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.