SLC34A1

Summary

SLC34A1 (solute carrier family 34 member 1, HGNC:11019) is a protein-coding gene on chromosome 5q35.3, encoding Sodium-dependent phosphate transport protein 2A (Q06495). Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane.

Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis.

Source: NCBI Gene 6569 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypercalcemia, infantile, 2 (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 69
• Clinical variants (ClinVar): 643 total — 26 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 61
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_003052

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11019
Approved symbol	SLC34A1
Name	solute carrier family 34 member 1
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	NAPI-3, NPTIIa, SLC11
Ensembl gene	ENSG00000131183
Ensembl biotype	protein_coding
OMIM	182309
Entrez	6569

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000324417, ENST00000504577, ENST00000507685, ENST00000512593, ENST00000513614, ENST00000872468

RefSeq mRNA: 2 — MANE Select: NM_003052 NM_001167579, NM_003052

CCDS: CCDS4418, CCDS54953

Canonical transcript exons

ENST00000324417 — 13 exons

Exon	Start	End
ENSE00000898157	177396950	177397074
ENSE00000898161	177388277	177388372
ENSE00000898162	177387994	177388189
ENSE00000898163	177387762	177387873
ENSE00001055034	177397783	177398848
ENSE00002066067	177384434	177384487
ENSE00003460801	177393694	177393763
ENSE00003461213	177386423	177386566
ENSE00003470883	177386221	177386349
ENSE00003526269	177396733	177396849
ENSE00003531885	177385987	177386136
ENSE00003611521	177394028	177394195
ENSE00003670450	177385695	177385850

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 91.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1627 / max 109.8884, expressed in 10 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60477	0.4934	3
72288	0.1627	10

Top tissues by expression

269 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nephron tubule	UBERON:0001231	91.14	gold quality
adult mammalian kidney	UBERON:0000082	90.69	gold quality
kidney epithelium	UBERON:0004819	89.20	gold quality
kidney	UBERON:0002113	86.46	gold quality
metanephric glomerulus	UBERON:0004736	86.44	gold quality
renal glomerulus	UBERON:0000074	85.40	gold quality
cortex of kidney	UBERON:0001225	79.50	gold quality
metanephros	UBERON:0000081	79.18	gold quality
pancreatic ductal cell	CL:0002079	78.83	silver quality
adult organism	UBERON:0007023	78.53	gold quality
type B pancreatic cell	CL:0000169	73.68	gold quality
olfactory bulb	UBERON:0002264	72.19	gold quality
diaphragm	UBERON:0001103	71.62	gold quality
metanephros cortex	UBERON:0010533	68.93	gold quality
renal medulla	UBERON:0000362	68.50	gold quality
secondary oocyte	CL:0000655	67.40	gold quality
right lobe of liver	UBERON:0001114	65.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.66	gold quality
granulocyte	CL:0000094	64.90	gold quality
myocardium	UBERON:0002349	64.82	gold quality
mucosa of urinary bladder	UBERON:0001259	64.03	gold quality
parotid gland	UBERON:0001831	63.99	gold quality
jejunal mucosa	UBERON:0000399	63.46	gold quality
lateral nuclear group of thalamus	UBERON:0002736	63.11	gold quality
cardiac muscle of right atrium	UBERON:0003379	63.06	gold quality
nasal cavity epithelium	UBERON:0005384	62.86	gold quality
tongue squamous epithelium	UBERON:0006919	62.75	gold quality
left ventricle myocardium	UBERON:0006566	62.54	gold quality
quadriceps femoris	UBERON:0001377	61.88	gold quality
vastus lateralis	UBERON:0001379	61.87	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	48.70
E-HCAD-10	yes	34.53
E-ANND-3	no	2.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPG, HIF1A, TFAP2A, TFE3

miRNA regulators (miRDB)

31 targeting SLC34A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-548V	99.29	69.47	1157
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-6858-5P	96.05	64.59	1020
HSA-MIR-6815-5P	96.05	65.55	662

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 35)

• type IIc is a growth-related renal Na/P(i) cotransporter, which has a high affinity for P(i) and is electroneutral (PMID:11880379)
• mutations in the NPT2 gene may contribute to nephrocalcinosis in a subset of patients with familial hypercalciuria (PMID:12674325)
• In Xenopus oocyte expression experiments P(i)-induced currents were reduced in mutants, whereas P(i) and Na affinities and other transport characteristics were not affected (PMID:14672348)
• Taken together, these findings suggest that ECL-1 and ECL-4 may not directly form part of the transport pathway, but specific sites in these linkers can interact directly or indirectly with parts of NaPi-IIa. (PMID:15504898)
• The results allowed us to modify previous models for the transport cycle of NaPi-II transporters by including voltage dependency of HPO4(2-) binding and proton modulation of the first Na+ binding step. (PMID:15613617)
• compartmentalization may play an important role in the down-regulation of NaPi-IIa via endocytosis (PMID:16105044)
• Although genetic variants of NPT2a are not rare, they do not seem to be associated with clinically significant renal phosphate or calcium handling anomalies in a large cohort of hypercalciuric stone-forming pedigrees (PMID:16688119)
• Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis. (PMID:16955105)
• These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling. (PMID:20335586)
• Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia. (PMID:21597970)
• Results indicate that the PDZ1 domain is critical for NHERF1-NPT2a interaction in humans and for the control of NPT2a expression at the plasma membrane. (PMID:22506049)
• JAK2 contributes to the regulation of phosphate transporter NaPiIIa (PMID:23313484)
• B-RAF increases the cell surface protein abundance and activity of the type II Na+-coupled phosphate transporters NaPi-IIa and NaPi-IIb. (PMID:24258620)
• A novel homozygous mutation in the gene encoding the renal sodium-dependent phosphate transporter SLC34A1 was identified in two siblings with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis. (PMID:25050900)
• Estrogen downregulated NaPi-IIa only in U20S cells expressing both ERalpha and ERbeta, but not in cells expressing either receptor alone. (PMID:25608964)
• The identification of autosomal-recessive SLC34A1 mutations in infants with idiopathic infantile hypercalcemia now demonstrates a crucial role of renal sodium-phosphate cotransporter 2A for calcium metabolism as well as phosphate balance in humans (PMID:26047794)
• Our findings show that dysfunction of the human NaPiIIa causes severe renal calcification that may eventually lead to reduced kidney function, rather than complications of phosphate loss (PMID:27378183)
• FGFR1c and PTHR signaling pathways converge on NHERF1 to inhibit PTH- and FGF23-sensitive phosphate transport and down-regulate NPT2A. (PMID:27432882)
• Biallelic mutations in CYP24A1 or SLC34A1 were associated with infantile idiopathic hypercalcemia with vitamin D hypersensitivity (PMID:28470390)
• Our findings expand the phenotypic spectrum of NaPi-IIa disruption, reinforce its link with proximal tubular impairment, enable longitudinal study of the natural history of the disease (PMID:29029121)
• pathogenic alleles of SLC34A1 contribute to both autosomal dominant and autosomal recessive renal stone disease. (PMID:29924459)
• Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene. (PMID:30227399)
• CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. (PMID:31188746)
• Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. (PMID:32311027)
• Nephrolithiasis from an Unexpected Cause: Phosphaturia. (PMID:32858021)
• Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers. (PMID:32866123)
• Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations. (PMID:33099630)
• Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box. (PMID:33499384)
• Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. (PMID:33516786)
• CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria. (PMID:34320495)
• The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. (PMID:35414099)
• High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture. (PMID:36762943)
• Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. (PMID:38504242)
• Distinct and overlapping RGS14 and RGS12 actions regulate NPT2A-mediated phosphate transport. (PMID:39293332)
• Results suggest that a 31-kDa nuclear protein from kidney-derived cells binds to the C/EBP-like region of the type II Na/Pi-cotransporter promoter. (PMID:9683733)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc34a1a	ENSDARG00000028824
danio_rerio	slc34a1b	ENSDARG00000054658
mus_musculus	Slc34a1	ENSMUSG00000021490
rattus_norvegicus	Slc34a1	ENSRNOG00000015262
caenorhabditis_elegans		WBGENE00022767

Paralogs (2): SLC34A2 (ENSG00000157765), SLC34A3 (ENSG00000198569)

Protein

Protein identifiers

Sodium-dependent phosphate transport protein 2A — Q06495 (reviewed: Q06495)

Alternative names: Na(+)-dependent phosphate cotransporter 2A, NaPi-3, Sodium/phosphate cotransporter 2A, Solute carrier family 34 member 1

All UniProt accessions (2): D6RCE5, Q06495

UniProt curated annotations — full annotation on UniProt →

Function. Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic.

Subunit / interactions. Interacts via its C-terminal region with NHERF4. Interacts with NHERF1. Interacts with TMEM174; regulates SLC34A1 internalization by PTH and FGF23.

Subcellular location. Apical cell membrane. Cell membrane.

Tissue specificity. Kidney and lung.

Disease relevance. Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286] A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. The disease is caused by variants affecting the gene represented in this entry. Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388] A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Hypercalcemia, infantile, 2 (HCINF2) [MIM:616963] An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SLC34A transporter family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q06495-1	1	yes
Q06495-2	2

RefSeq proteins (2): NP_001161051, NP_003043* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003841	Na/Pi_transpt	Family

Pfam: PF02690

Catalyzed reactions (Rhea), 1 shown:

• 3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in) (RHEA:71255)

UniProt features (41 total): sequence variant 11, topological domain 9, transmembrane region 8, modified residue 6, glycosylation site 3, disulfide bond 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q06495-F1	72.24	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 14, 34, 508, 607, 623, 625

Disulfide bonds (2): 225–522, 306–336

Glycosylation sites (3): 298, 323, 330

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-427589	Type II Na+/Pi cotransporters
R-HSA-5619040	Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
R-HSA-5683826	Surfactant metabolism

MSigDB gene sets: 370 (showing top): MODULE_416, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ESTRADIOL, MODULE_162, GOBP_RESPONSE_TO_PEPTIDE, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, MODULE_64, GOCC_CELL_SURFACE, GOBP_RESPONSE_TO_POTASSIUM_ION, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION, GOBP_RESPONSE_TO_MAGNESIUM_ION, TCF4_Q5

GO Biological Process (37): ossification (GO:0001503), kidney development (GO:0001822), phosphate ion transport (GO:0006817), glycoprotein metabolic process (GO:0009100), response to xenobiotic stimulus (GO:0009410), response to lead ion (GO:0010288), cellular response to phosphate starvation (GO:0016036), intracellular phosphate ion homeostasis (GO:0030643), response to magnesium ion (GO:0032026), response to estradiol (GO:0032355), response to vitamin A (GO:0033189), phosphate ion transmembrane transport (GO:0035435), response to potassium ion (GO:0035864), indole metabolic process (GO:0042431), sodium-dependent phosphate transport (GO:0044341), positive regulation of membrane potential (GO:0045838), response to cadmium ion (GO:0046686), response to mercury ion (GO:0046689), phosphate ion homeostasis (GO:0055062), response to growth hormone (GO:0060416), cellular response to metal ion (GO:0071248), cellular response to parathyroid hormone stimulus (GO:0071374), tricarboxylic acid metabolic process (GO:0072350), cellular response to staurosporine (GO:0072734), response to thyroid hormone (GO:0097066), dentinogenesis (GO:0097187), sodium ion import across plasma membrane (GO:0098719), gentamycin metabolic process (GO:1901128), response to peptide (GO:1901652), arsenate ion transmembrane transport (GO:1901684), positive regulation of sodium-dependent phosphate transport (GO:2000120), positive regulation of phosphate transmembrane transport (GO:2000187), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), response to nutrient (GO:0007584), response to peptide hormone (GO:0043434), response to parathyroid hormone (GO:0071107)

GO Molecular Function (6): sodium:phosphate symporter activity (GO:0005436), PDZ domain binding (GO:0030165), identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), protein binding (GO:0005515), symporter activity (GO:0015293)

GO Cellular Component (13): nucleoplasm (GO:0005654), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), brush border (GO:0005903), cell surface (GO:0009986), apical plasma membrane (GO:0016324), nuclear speck (GO:0016607), brush border membrane (GO:0031526), vesicle (GO:0031982), perinuclear region of cytoplasm (GO:0048471), mitotic spindle (GO:0072686), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Sodium-coupled phosphate cotransporters	1
SLC transporter disorders	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to metal ion	5
cellular anatomical structure	5
response to lipid	2
phosphate ion transport	2
binding	2
cytoplasm	2
apical part of cell	2
multicellular organismal process	1
animal organ development	1
renal system development	1
inorganic anion transport	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
response to chemical	1
cellular response to starvation	1
phosphate ion homeostasis	1
intracellular chemical homeostasis	1
response to oxygen-containing compound	1
response to vitamin	1
transmembrane transport	1
indole-containing compound metabolic process	1
regulation of membrane potential	1
inorganic ion homeostasis	1
response to peptide hormone	1
phosphate transmembrane transporter activity	1
solute:sodium symporter activity	1
protein domain specific binding	1
protein binding	1
secondary active transmembrane transporter activity	1
nuclear lumen	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
microvillus	1
cluster of actin-based cell projections	1
plasma membrane region	1
nuclear ribonucleoprotein granule	1
brush border	1
apical plasma membrane	1

Protein interactions and networks

STRING

3317 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC34A1	FGF23	Q9GZV9	936
SLC34A1	SLC17A1	Q14916	926
SLC34A1	PHEX	P78562	907
SLC34A1	PTH	P01270	865
SLC34A1	NHERF1	O14745	821
SLC34A1	SLC17A4	Q9Y2C5	816
SLC34A1	CYP27B1	O15528	815
SLC34A1	KL	Q9UEF7	796
SLC34A1	GATM	P50440	747
SLC34A1	SLC17A2	O00624	742
SLC34A1	STC2	O76061	740
SLC34A1	NHERF4	Q86UT5	737
SLC34A1	PDZK1	Q5T2W1	711
SLC34A1	SLC9A3	P48764	695
SLC34A1	SLC17A3	O00476	689

IntAct

4 interactions, top by confidence:

A	B	Type	Score
SLC34A1	CKMT1A	psi-mi:“MI:0915”(physical association)	0.400
SLC30A3	WWP2	psi-mi:“MI:0914”(association)	0.350
SLC34A1	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): SLC34A1 (Two-hybrid), SLC34A1 (Reconstituted Complex), SLC34A1 (Proximity Label-MS), SLC34A1 (Affinity Capture-MS), SLC34A1 (Affinity Capture-RNA), SLC34A1 (Affinity Capture-MS), ATP2C1 (Affinity Capture-MS), ATP5J (Affinity Capture-MS), B4GALT4 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), FYN (Affinity Capture-MS), KLHL15 (Affinity Capture-MS), LGALS1 (Affinity Capture-MS), PLD3 (Affinity Capture-MS)

ESM2 similar proteins: A0A075B734, A1L272, A2IBY8, A8W649, A9Y006, D4A7H1, E7EXX2, F7B113, O14520, O35454, O54794, O62735, O94956, P34080, P35525, P41181, P47862, P47863, P47864, P51789, P51797, P56402, P56403, P79099, Q06495, Q06496, Q08DE6, Q4R691, Q5PQL3, Q62052, Q866S3, Q8BLV3, Q8BXB6, Q8BZ00, Q8IVB4, Q8K078, Q8MIQ9, Q8R2N1, Q8TCT8, Q921R8

Diamond homologs: O95436, O97704, P54463, Q06495, Q06496, Q27960, Q28620, Q5REV9, Q60825, Q80SU6, Q8K4R8, Q8N130, Q9DBP0, Q9JJ09

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SLC34A1	“up-regulates quantity”	phosphate(3-)	relocalization
PTH1R	“down-regulates quantity”	SLC34A1

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	26
Likely pathogenic	26
Uncertain significance	337
Likely benign	165
Benign	23

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068601	NC_000005.9:g.(?176812743)(176824075_?)del	Pathogenic
1165	NM_000505.4(F12):c.1115G>C (p.Arg372Pro)	Pathogenic
1179157	GRCh37/hg19 5q35.3(chr5:176812675-176813587)	Pathogenic
12931	NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe)	Pathogenic
1457675	NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)	Pathogenic
1920215	NM_003052.5(SLC34A1):c.782_810del (p.Arg261fs)	Pathogenic
2029385	NM_003052.5(SLC34A1):c.891del (p.Asn298fs)	Pathogenic
2030752	NM_003052.5(SLC34A1):c.455dup (p.Ile154fs)	Pathogenic
2033603	NM_003052.5(SLC34A1):c.684G>A (p.Trp228Ter)	Pathogenic
234926	NM_003052.5(SLC34A1):c.644+1G>A	Pathogenic
234929	NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly)	Pathogenic
234930	NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala)	Pathogenic
2681783	NM_003052.5(SLC34A1):c.644+2T>G	Pathogenic
2751992	NM_003052.5(SLC34A1):c.820_823del (p.Phe274fs)	Pathogenic
2760463	NM_003052.5(SLC34A1):c.1236_1248del (p.Met412fs)	Pathogenic
3000594	NM_003052.5(SLC34A1):c.1312G>T (p.Glu438Ter)	Pathogenic
3246508	NC_000005.9:g.(?176812743)(176813587_?)del	Pathogenic
3359162	NM_003052.5(SLC34A1):c.533T>A (p.Leu178Ter)	Pathogenic
3376790	NM_003052.5(SLC34A1):c.1188del (p.Phe397fs)	Pathogenic
3381884	NM_003052.5(SLC34A1):c.627del (p.Asp209fs)	Pathogenic
3390109	NM_003052.5(SLC34A1):c.1271C>A (p.Ser424Ter)	Pathogenic
3592112	NM_003052.5(SLC34A1):c.557_558del (p.Pro186fs)	Pathogenic
3619252	NM_003052.5(SLC34A1):c.90del (p.Tyr31fs)	Pathogenic
3716939	NM_003052.5(SLC34A1):c.1156C>T (p.Gln386Ter)	Pathogenic
433538	NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter)	Pathogenic
4774220	NM_003052.5(SLC34A1):c.19_20del (p.Arg7fs)	Pathogenic
1325085	NM_003052.5(SLC34A1):c.1467C>A (p.Tyr489Ter)	Likely pathogenic
1343085	NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg)	Likely pathogenic
1479198	NM_003052.5(SLC34A1):c.109+1G>A	Likely pathogenic
234927	NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)	Likely pathogenic

SpliceAI

2206 predictions. Top by Δscore:

Variant	Effect	Δscore
5:177386220:GA:G	acceptor_gain	1.0000
5:177386562:TGGCT:T	donor_gain	1.0000
5:177386563:GGCT:G	donor_gain	1.0000
5:177386563:GGCTG:G	donor_gain	1.0000
5:177386564:GCT:G	donor_gain	1.0000
5:177386564:GCTG:G	donor_gain	1.0000
5:177386566:TGTGA:T	donor_loss	1.0000
5:177386567:G:GG	donor_gain	1.0000
5:177386568:TGA:T	donor_loss	1.0000
5:177386569:GAG:G	donor_loss	1.0000
5:177387757:A:AG	acceptor_gain	1.0000
5:177387760:A:AG	acceptor_gain	1.0000
5:177387761:G:GG	acceptor_gain	1.0000
5:177387761:GT:G	acceptor_gain	1.0000
5:177387859:G:GT	donor_gain	1.0000
5:177388186:CCAG:C	donor_loss	1.0000
5:177388187:CAG:C	donor_loss	1.0000
5:177388188:AGG:A	donor_loss	1.0000
5:177388189:GGTGA:G	donor_loss	1.0000
5:177388190:GTGAC:G	donor_loss	1.0000
5:177388275:A:AG	acceptor_gain	1.0000
5:177388276:G:GG	acceptor_gain	1.0000
5:177396848:CGGTG:C	donor_loss	1.0000
5:177396850:G:GG	donor_gain	1.0000
5:177396850:G:T	donor_loss	1.0000
5:177396941:T:TA	acceptor_gain	1.0000
5:177396945:CCCA:C	acceptor_loss	1.0000
5:177396946:CCAG:C	acceptor_loss	1.0000
5:177396947:CAGG:C	acceptor_loss	1.0000
5:177396948:A:AG	acceptor_gain	1.0000

AlphaMissense

4111 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:177386518:A:C	S162R	0.999
5:177386520:C:A	S162R	0.999
5:177386520:C:G	S162R	0.999
5:177397879:G:T	G505W	0.999
5:177386524:A:C	S164R	0.998
5:177386526:C:A	S164R	0.998
5:177386526:C:G	S164R	0.998
5:177387805:C:A	N192K	0.998
5:177387805:C:G	N192K	0.998
5:177387819:T:A	V197D	0.998
5:177387837:C:A	A203D	0.998
5:177387998:T:C	F217L	0.998
5:177388000:C:A	F217L	0.998
5:177388000:C:G	F217L	0.998
5:177388008:C:A	A220D	0.998
5:177388030:C:A	N227K	0.998
5:177388030:C:G	N227K	0.998
5:177396813:A:C	S419R	0.998
5:177396815:T:A	S419R	0.998
5:177396815:T:G	S419R	0.998
5:177396979:T:G	Y441D	0.998
5:177397002:C:A	N448K	0.998
5:177397002:C:G	N448K	0.998
5:177397809:C:A	N481K	0.998
5:177397809:C:G	N481K	0.998
5:177397879:G:A	G505R	0.998
5:177397879:G:C	G505R	0.998
5:177397880:G:T	G505V	0.998
5:177397903:T:A	W513R	0.998
5:177397903:T:C	W513R	0.998

dbSNP variants (sampled 300 via entrez): RS1000017177 (5:177407982 A>G), RS1000116306 (5:177391180 C>T), RS1000152826 (5:177408418 G>C), RS1000221213 (5:177396271 G>C,T), RS1000253382 (5:177402599 G>A), RS1000333855 (5:177396772 C>T), RS1000556415 (5:177392201 C>T), RS1000652112 (5:177398123 T>A), RS1000724019 (5:177402813 C>A,G), RS1000962953 (5:177391026 G>T), RS1001009549 (5:177387255 C>T), RS1001102380 (5:177387134 G>T), RS1001127870 (5:177390083 C>T), RS1001222634 (5:177389758 C>A), RS1001326017 (5:177401256 G>T)

Disease associations

OMIM: gene MIM:182309 | disease phenotypes: MIM:612286, MIM:613388, MIM:616963, MIM:613021, MIM:259420, MIM:143880

GenCC curated gene-disease

Disease	Classification	Inheritance
hypophosphatemic nephrolithiasis/osteoporosis 1	Strong	Autosomal dominant
hypercalcemia, infantile, 2	Strong	Autosomal recessive
dominant hypophosphatemia with nephrolithiasis or osteoporosis	Supportive	Autosomal dominant
autosomal recessive infantile hypercalcemia	Supportive	Autosomal recessive
primary Fanconi syndrome	Supportive	Autosomal dominant
Fanconi renotubular syndrome 2	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hypercalcemia, infantile, 2	Definitive	AR
Fanconi renotubular syndrome 2	Disputed	AR

Mondo (14): hypophosphatemic nephrolithiasis/osteoporosis 1 (MONDO:0012850), Fanconi renotubular syndrome 2 (MONDO:0013247), hypercalcemia, infantile, 2 (MONDO:0014851), prostate cancer (MONDO:0008315), nephrolithiasis (MONDO:0008171), nephrocalcinosis (MONDO:0001567), neutropenia (MONDO:0001475), lymphopenia (MONDO:0003783), bronchiectasis with or without elevated sweat chloride 2 (MONDO:0013087), osteogenesis imperfecta type 3 (MONDO:0009804), hypercalcemia, infantile (MONDO:0000212), (MONDO:0016579), (MONDO:0007749), primary Fanconi syndrome (MONDO:0007600)

Orphanet (6): Dominant hypophosphatemia with nephrolithiasis or osteoporosis (Orphanet:244305), Autosomal recessive infantile hypercalcemia (Orphanet:300547), Familial prostate cancer (Orphanet:1331), Idiopathic bronchiectasis (Orphanet:60033), Osteogenesis imperfecta type 3 (Orphanet:216812), Osteogenesis imperfecta (Orphanet:666)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000103	Polyuria
HP:0000114	Proximal tubulopathy
HP:0000117	Renal phosphate wasting
HP:0000121	Nephrocalcinosis
HP:0000787	Nephrolithiasis
HP:0000897	Rachitic rosary
HP:0000924	Abnormality of the skeletal system
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0001252	Hypotonia
HP:0001324	Muscle weakness
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001824	Weight loss
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0002049	Proximal renal tubular acidosis
HP:0002148	Hypophosphatemia
HP:0002150	Hypercalciuria
HP:0002206	Pulmonary fibrosis
HP:0002515	Waddling gait
HP:0002653	Bone pain
HP:0002659	Increased susceptibility to fractures
HP:0002748	Rickets
HP:0002749	Osteomalacia
HP:0002756	Pathologic fracture

GWAS associations

69 associations (top):

Study	Trait	p-value
GCST000649_23	Chronic kidney disease	1.000000e-14
GCST001432_1	Nephrolithiasis	9.000000e-12
GCST001574_7	Activated partial thromboplastin time	6.000000e-88
GCST002201_8	Calcium levels	5.000000e-06
GCST002497_26	Blood pressure	2.000000e-06
GCST002702_6	Height	2.000000e-13
GCST003086_2	Kidney stones	6.000000e-11
GCST003372_16	Glomerular filtration rate (creatinine)	5.000000e-22
GCST003374_5	Chronic kidney disease	4.000000e-09
GCST003401_27	Glomerular filtration rate in non diabetics (creatinine)	4.000000e-14
GCST003790_37	Glomerular filtration rate	4.000000e-09
GCST003790_38	Glomerular filtration rate	6.000000e-07
GCST003790_9	Glomerular filtration rate	2.000000e-17
GCST003879_3	Serum parathyroid hormone levels	3.000000e-23
GCST003929_3	Urinary electrolytes (magnesium/calcium ratio)	6.000000e-09
GCST004131_57	Inflammatory bowel disease	4.000000e-09
GCST004133_67	Ulcerative colitis	4.000000e-08
GCST004214_4	Creatinine levels	1.000000e-10
GCST004292_16	Glomerular filtration rate (creatinine)	9.000000e-19
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_169	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST004521_83	Autism spectrum disorder or schizophrenia	1.000000e-13
GCST004571_15	Iron status biomarkers (total iron binding capacity)	7.000000e-17
GCST004572_28	Iron status biomarkers (transferrin saturation)	7.000000e-17
GCST004602_46	Mean corpuscular volume	5.000000e-11
GCST004621_93	Red cell distribution width	2.000000e-09
GCST004630_82	Mean corpuscular hemoglobin	1.000000e-11
GCST005956_15	Waist-to-hip ratio adjusted for BMI	1.000000e-07
GCST005957_13	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-07

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0004838	calcium measurement
EFO:0006340	mean arterial pressure
EFO:0007903	magnesium:calcium ratio
EFO:0006334	total iron binding capacity
EFO:0009188	Red cell distribution width
EFO:0004527	mean corpuscular hemoglobin
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004861	phosphorus measurement
EFO:0004348	hematocrit
EFO:0004305	erythrocyte count
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004509	hemoglobin measurement
EFO:0008111	diet measurement
EFO:0004761	uric acid measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D008231	Lymphopenia	C15.378.243.750.605; C15.378.553.546.605; C20.673.627
D009397	Nephrocalcinosis	C12.050.351.968.419.590; C12.200.777.419.590; C12.950.419.590; C18.452.174.130.560
D053040	Nephrolithiasis	C12.050.351.968.419.600; C12.050.351.968.967.249; C12.200.777.419.600; C12.200.777.967.249; C12.950.419.600; C12.950.967.249
D009503	Neutropenia	C15.378.243.750.184.564; C15.378.553.546.184.564
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C567813	Bronchiectasis With Or Without Elevated Sweat Chloride 2 (supp.)
C562999	Hypercalcemia, Infantile (supp.)
C567363	Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (supp.)
C536044	Osteogenesis imperfecta, type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3769299 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 652,741 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1060	SODIUM PHOSPHATE, DIBASIC, ANHYDROUS	4	305,151
CHEMBL1200925	POTASSIUM PHOSPHATE, MONOBASIC	4	347,590

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1801020	F12, SLC34A1	3	3.50	1	Enzymes

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC34 family of sodium phosphate co-transporters

ChEMBL bioactivities

584 potent at pChembl≥5 of 587 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.80	IC50	1.6	nM	CHEMBL5807779
8.72	IC50	1.9	nM	CHEMBL5849818
8.70	IC50	2	nM	CHEMBL5836391
8.70	IC50	2	nM	CHEMBL6045676
8.70	IC50	2	nM	CHEMBL5833238
8.70	IC50	2	nM	CHEMBL5867548
8.70	IC50	2	nM	CHEMBL5887060
8.70	IC50	2	nM	CHEMBL5774798
8.70	IC50	2	nM	CHEMBL5832277
8.70	IC50	2	nM	CHEMBL5855360
8.70	IC50	2	nM	CHEMBL5877243
8.70	IC50	2	nM	CHEMBL5931639
8.70	IC50	2	nM	CHEMBL5985304
8.52	IC50	3	nM	CHEMBL5779266
8.52	IC50	3	nM	CHEMBL5838464
8.52	IC50	3	nM	CHEMBL5837392
8.52	IC50	3	nM	CHEMBL6024745
8.52	IC50	3	nM	CHEMBL5766990
8.52	IC50	3	nM	CHEMBL5954628
8.52	IC50	3	nM	CHEMBL5876962
8.52	IC50	3	nM	CHEMBL5862051
8.52	IC50	3	nM	CHEMBL5799829
8.52	IC50	3	nM	CHEMBL5937595
8.52	IC50	3	nM	CHEMBL5753412
8.52	IC50	3	nM	CHEMBL6032772
8.52	IC50	3	nM	CHEMBL5814712
8.52	IC50	3	nM	CHEMBL5907013
8.52	IC50	3	nM	CHEMBL5985512
8.49	IC50	3.2	nM	CHEMBL5923290
8.46	IC50	3.45	nM	CHEMBL5957079
8.40	IC50	4	nM	CHEMBL5832087
8.40	IC50	4	nM	CHEMBL5954628
8.40	IC50	4	nM	CHEMBL5749501
8.40	IC50	4	nM	CHEMBL5955270
8.40	IC50	4	nM	CHEMBL6015350
8.40	IC50	4	nM	CHEMBL5832630
8.40	IC50	4	nM	CHEMBL6023176
8.40	IC50	4	nM	CHEMBL5825330
8.40	IC50	4	nM	CHEMBL5860355
8.36	IC50	4.4	nM	CHEMBL5877243
8.35	IC50	4.48	nM	CHEMBL5833319
8.32	IC50	4.8	nM	CHEMBL5802200
8.30	IC50	5	nM	CHEMBL5808699
8.30	IC50	5	nM	CHEMBL5832818
8.30	IC50	5	nM	CHEMBL5803177
8.30	IC50	5	nM	CHEMBL5806268
8.30	IC50	5	nM	CHEMBL5875252
8.30	IC50	5	nM	CHEMBL5777830
8.30	IC50	5	nM	CHEMBL5800884
8.30	IC50	5	nM	CHEMBL5748552

PubChem BioAssay actives

20 with measured affinity, of 33 total; 11 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-chloro-2-methyl-7-(1-oxo-2,8-diazaspiro[4.5]decan-8-yl)-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354865: Displacement of (C[3H]3) from NaPi2a (unknown origin) expressed in HEK293 cell membranes coexpressing tetracyclin after 1 hr by scintillation counting method	ki	0.0820	uM
3-chloro-2-methyl-7-(2-methyl-1-oxo-2,8-diazaspiro[4.5]decan-8-yl)-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	0.1200	uM
3-chloro-7-(4-hydroxypiperidin-1-yl)-2-methyl-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	0.1300	uM
4-amino-1-[3-chloro-6-cyano-2-methyl-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridin-7-yl]piperidine-4-carboxamide	1354865: Displacement of (C[3H]3) from NaPi2a (unknown origin) expressed in HEK293 cell membranes coexpressing tetracyclin after 1 hr by scintillation counting method	ki	0.2500	uM
3-chloro-7-[(2S)-2-(hydroxymethyl)morpholin-4-yl]-2-methyl-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	0.3800	uM
3-chloro-7-[(2R)-2-(hydroxymethyl)morpholin-4-yl]-2-methyl-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	0.3900	uM
5-chloro-2-[[3-(2,3-dihydroxypropylsulfanylmethyl)benzoyl]amino]-N-[(E)-(3-fluorophenyl)methylideneamino]benzamide	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	0.4600	uM
2-methyl-7-(1-oxo-2,8-diazaspiro[4.5]decan-8-yl)-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	1.5000	uM
7-(4-aminopiperidin-1-yl)-3-chloro-2-methyl-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354865: Displacement of (C[3H]3) from NaPi2a (unknown origin) expressed in HEK293 cell membranes coexpressing tetracyclin after 1 hr by scintillation counting method	ki	2.3000	uM
2-methyl-7-[4-(pyridin-2-ylamino)piperidin-1-yl]-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354854: Inhibition of human NaPi2a expressed in HEK293 cells coexpressing tetracyclin assessed as reduction in uptake of 33P-radiolabeled Pi incubated for 20 to 30 mins prior to substrate addition	ic50	6.5000	uM
7-(1-oxo-2,8-diazaspiro[4.5]decan-8-yl)-5-(trifluoromethyl)-1H-pyrrolo[3,2-b]pyridine-6-carbonitrile	1354865: Displacement of (C[3H]3) from NaPi2a (unknown origin) expressed in HEK293 cell membranes coexpressing tetracyclin after 1 hr by scintillation counting method	ki	10.0000	uM

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
bisphenol A	decreases expression	1
arsenic pentoxide	increases expression	1
15-acetyldeoxynivalenol	increases expression	1
Acetaminophen	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 7 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3773488	Binding	Inhibition of NaPiA2 (unknown origin)	Optimization of a Dicarboxylic Series for in Vivo Inhibition of Citrate Transport by the Solute Carrier 13 (SLC13) Family. — J Med Chem
CHEMBL5209613	Functional	Substrate uptake by the Sodium-Dependent Phosphate Transport Protein 2A (NPT2a, SLC34A1) as assessed by the fluorescent FLIPR membrane potential dye in HEK-293 JumpIN-SLC34A1 cells (PubChem AID: 1794813)	Membrane potential-based assay for SLC34A1 using HEK293 JumpIn SLC34A1 OE cells

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
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