STC1

Summary

STC1 (stanniocalcin 1, HGNC:11373) is a protein-coding gene on chromosome 8p21.2, encoding Stanniocalcin-1 (P52823). Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia.

This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5’ UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers.

Source: NCBI Gene 6781 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_003155

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11373
Approved symbol	STC1
Name	stanniocalcin 1
Location	8p21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000159167
Ensembl biotype	protein_coding
OMIM	601185
Entrez	6781

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000290271, ENST00000524323

RefSeq mRNA: 1 — MANE Select: NM_003155 NM_003155

CCDS: CCDS6043

Canonical transcript exons

ENST00000290271 — 4 exons

Exon	Start	End
ENSE00001043677	23841929	23845040
ENSE00001043707	23851320	23851531
ENSE00001304928	23854406	23854806
ENSE00003530714	23852242	23852384

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 97.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2520 / max 1414.0067, expressed in 1134 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92356	21.6984	1070
92343	5.7061	840
92344	0.7084	296
92355	0.6390	382
92353	0.3209	170
92354	0.1793	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	97.89	gold quality
vena cava	UBERON:0004087	96.77	gold quality
buccal mucosa cell	CL:0002336	94.14	gold quality
islet of Langerhans	UBERON:0000006	93.14	gold quality
cartilage tissue	UBERON:0002418	92.37	gold quality
stromal cell of endometrium	CL:0002255	91.39	gold quality
mucosa of urinary bladder	UBERON:0001259	90.00	gold quality
thyroid gland	UBERON:0002046	88.86	gold quality
left lobe of thyroid gland	UBERON:0001120	88.79	gold quality
choroid plexus epithelium	UBERON:0003911	88.23	gold quality
omental fat pad	UBERON:0010414	87.57	gold quality
renal medulla	UBERON:0000362	87.49	gold quality
peritoneum	UBERON:0002358	87.48	gold quality
adenohypophysis	UBERON:0002196	86.32	gold quality
nephron tubule	UBERON:0001231	85.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.25	gold quality
tendon of biceps brachii	UBERON:0008188	83.30	gold quality
gall bladder	UBERON:0002110	83.25	gold quality
endometrium epithelium	UBERON:0004811	82.90	gold quality
right lobe of thyroid gland	UBERON:0001119	82.70	gold quality
pituitary gland	UBERON:0000007	81.33	gold quality
kidney	UBERON:0002113	80.85	gold quality
adult mammalian kidney	UBERON:0000082	80.84	gold quality
smooth muscle tissue	UBERON:0001135	80.43	gold quality
visceral pleura	UBERON:0002401	80.04	gold quality
urinary bladder	UBERON:0001255	79.67	gold quality
left coronary artery	UBERON:0001626	79.48	gold quality
endometrium	UBERON:0001295	79.03	gold quality
coronary artery	UBERON:0001621	78.77	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.72	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	4723.17
E-HCAD-30	yes	159.64
E-MTAB-10287	yes	40.60
E-CURD-112	yes	8.03
E-MTAB-5061	yes	5.93
E-GEOD-99795	no	13.93
E-MTAB-10137	no	5.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXC1, HIF1A, NCOA1, NFKB, NFKBID, PGR, RELA, SP1, TP53

miRNA regulators (miRDB)

253 targeting STC1, 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-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4645-5P	99.98	65.81	1284

Literature-anchored findings (GeneRIF, showing 40)

• Transgenic overexpression of hSTC1 results in severe post-natal dwarfism (30-50%) indepedent of GH or IGF-I and a reduction female reproductive competence. (PMID:11861508)
• Data characterize the STC receptor and the functional targeting of ligand and receptor to mitochondria. (PMID:12223480)
• Stanniocalcin 1 may regulate calcium currents in cardiomyocytes and may contribute to the alterations in calcium homeostasis of the failing heart (PMID:12663264)
• STC1 may play a selective modulatory role in angiogenesis, possibly serving as a “stop signal” or stabilizing factor contributing to the maturation of newly formed blood vessels (PMID:14500721)
• STC1 plays a role in breast cancer (PMID:15062564)
• The observed STC1 suppression of progesterone, but not estradiol, production further suggests the potential role of this paracrine hormone as a luteinization inhibitor (PMID:15131261)
• Neoplastic adipocytes in well-differentiated liposarcomas stained for STC1, but the frequency of STC-1-positive cells was lower in high-grade liposarcomas; STC1 may function as a “survival factor”, contributing to the maintenance of mature adipose tissue. (PMID:15149855)
• STC-1 is a novel marker for minimal residual disease of acute leukemia, and for an early diagnosis of relapse. (PMID:15383693)
• Evidence of HIF-1 regulation of stanniocalcin-1(STC1) expression in human cancer cells. Implications as to role of STC1 in hypoxia induced adaptive responses in tumor cells. (PMID:16109785)
• Stanniocalcin 1 acts as a paracrine regulator of growth plate chondrogenesis (PMID:16377640)
• STC1 plays a critical role in transendothelial migration of inflammatory cells and is involved in the regulation of numerous aspects of endothelial function. (PMID:17032941)
• Induced brain injury elicits a stronger STC-1 response in brains of transgenic mice, with targeted astroglial IL-6 expression, than in brains of wild-type mice. (PMID:17272771)
• Collectively, the present findings provide the first evidence of p53 regulation of STC1 expression in human cancer cells. (PMID:17395153)
• STC1 prevented increase in diastolic Ca(2+) overload and ouabain-induced cell hypercontracture. STC1 could effectively prevent cytosolic Ca(2+) overload and protect cardiomyocytes from pathophysiological conditions such as heart failure. (PMID:17457011)
• Support a role for NP-1 in mediating synergistic effects between VEGF-A(165) and FGF-2, which may occur in part through a contribution of NP-1 to KDR stability. (PMID:18164591)
• results suggest an important role for STC1 in regulating endothelial functions during cardiovascular inflammation. (PMID:18309109)
• elevated expression of STC-1 or STC-2 act as survival factors also for breast cancer cells and thereby contribute to tumor dormancy. (PMID:18355956)
• Increased mRNA expression during progression of colorectal cancer with liver metastases (PMID:18590575)
• Results show that histone hyper-acetylation and the recruitment of activated NFkappaB stimulated stanniocalcin-1 gene expression. (PMID:18652825)
• These data indicate a key role of STC1 in the response of human brain microvascular endothelial cells to beta-amyloid exposure. (PMID:18786506)
• The data demonstrate that STC-1 mediates the antiapoptotic effects of multipotent stromal cells in two distinct models of apoptosis in vitro. (PMID:19267325)
• Wnt2 acts as an angiogenic growth factor for non-sinusoidal endothelial cells and inhibits expression of stanniocalcin-1. (PMID:19444628)
• Data show that stanniocalcin-1 is a “factor inhibiting HIF-1”-inhibited gene with a functional hypoxia-responsive element motif located at the upstream region between -2322/-2335. (PMID:19628018)
• STC1 is a dimer of slightly elongated shape in solution. (PMID:19712479)
• Human stanniocalcin-1 or -2 expressed in mice reduces bone size and severely inhibits cranial intramembranous bone growth. (PMID:20174869)
• STC1 plays an important role in the early response to mechanical injury by epithelial cells by modulating signaling of extracellular ATP (PMID:20422040)
• STC1 protein may be involved in ovarian tumorigenesis. (PMID:20484106)
• STC1 induction by thyroid hormone depends on both TRbeta and PI3K activation. (PMID:20827662)
• High STC1 gene expression is associated with colorectal cancer. (PMID:21273618)
• STC1 is a downstream target of Sp1. (PMID:21465530)
• Vascular endothelial growth factor-D stimulates endothelial cell VEGF-A, stanniocalcin-1, and neuropilin-2 and has potent angiogenic effects. (PMID:21474827)
• Level of circulating STC1 mRNA in NSCLC was significantly higher than in benign pulmonary disease or healthy volunteers. Higher levels of circulating STC1 mRNA were associated with more advanced tumor stages and histological subtypes. (PMID:21656524)
• STC-1 could promote angiogenesis in vitro and in vivo, and the angiogenesis was consistent with VEGF expression in vitro. Inhibition of VEGF expression in supernatants with neutralizing antibody markedly abolished angiogenesis induced by STC-1 in vitro. (PMID:21672207)
• The results demonstrate that PKCalpha suppresses the expression of STC1 in breast cancer cells. (PMID:21720730)
• Overexpression of STC1 was an independent prognostic factor in patients with esophageal cancer who had undergone curative surgery. (PMID:22200953)
• STC-1 mRNA expression is a reliable marker for detection of DTCs in PB and BM of ESCC patients, and STC-1-positive DTCs may be a promising tool for diagnosis and prognosis assessment in ESCC. (PMID:22537917)
• Stanniocalcin (STC1) plays an important role in functional adaption in pediatric kidney transplantation. (PMID:22588538)
• STC1 activates a novel anti-oxidant pathway in cardiac myocytes through induction of UCP3 (PMID:22693564)
• STC1 is a potentially useful blood marker for predicting biological tumor aggressiveness in patients with gastric cancer (PMID:22889960)
• Data indicate that the secreted glycoprotein stanniocalcin-1 (STC1) as a mediator of metastasis by PDGF receptor function in the setting of colorectal cancer. (PMID:23243022)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	stc1	ENSDARG00000003303
danio_rerio	stc1l	ENSDARG00000058476
mus_musculus	Stc1	ENSMUSG00000014813
rattus_norvegicus	Stc1	ENSRNOG00000015075
caenorhabditis_elegans	W01A8.8	WBGENE00044988

Paralogs (1): STC2 (ENSG00000113739)

Protein

Protein identifiers

Stanniocalcin-1 — P52823 (reviewed: P52823)

All UniProt accessions (2): P52823, A0A0H3W641

UniProt curated annotations — full annotation on UniProt →

Function. Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Secreted.

Tissue specificity. Expressed in most tissues, with the highest levels in ovary, prostate, heart, kidney and thyroid. In the kidney, expression is confined to the nephron, specifically in the distal convoluted tubule and in the collecting tubule. Not detected in the brain, liver, spleen, peripheral blood leukocytes and adrenal medulla.

Similarity. Belongs to the stanniocalcin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P52823-1	1	yes
P52823-2	2

RefSeq proteins (1): NP_003146* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004978	Stanniocalcin	Family

Pfam: PF03298

UniProt features (11 total): disulfide bond 6, signal peptide 1, propeptide 1, splice variant 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52823-F1	78.81	0.53

Functional residue map

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

Disulfide bonds (6): 45–59, 54–74, 65–114, 98–128, 135–170, 202

Glycosylation sites (1): 62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 463 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EXCRETION, MODULE_92, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, AAGCAAT_MIR137, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, GOBP_AXIS_SPECIFICATION, HARRIS_HYPOXIA, GOBP_CARTILAGE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_LIPID

GO Biological Process (20): ossification (GO:0001503), endothelial cell morphogenesis (GO:0001886), growth plate cartilage axis specification (GO:0003421), intracellular calcium ion homeostasis (GO:0006874), embryo implantation (GO:0007566), negative regulation of endothelial cell migration (GO:0010596), negative regulation of cell migration (GO:0030336), response to vitamin D (GO:0033280), chondrocyte proliferation (GO:0035988), regulation of monoatomic anion transport (GO:0044070), decidualization (GO:0046697), negative regulation of calcium ion transport (GO:0051926), bone development (GO:0060348), cellular response to cAMP (GO:0071320), cellular response to glucocorticoid stimulus (GO:0071385), cellular response to hypoxia (GO:0071456), regulation of cardiac muscle cell contraction (GO:0086004), positive regulation of calcium ion import (GO:0090280), negative regulation of renal phosphate excretion (GO:1903403), signal transduction (GO:0007165)

GO Molecular Function (3): hormone activity (GO:0005179), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytoplasm (GO:0005737), apical plasma membrane (GO:0016324), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
multicellular organismal process	1
endothelial cell development	1
epithelial cell morphogenesis	1
growth plate cartilage morphogenesis	1
axis specification	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
multicellular organism development	1
female pregnancy	1
reproductive process	1
regulation of endothelial cell migration	1
negative regulation of cell migration	1
endothelial cell migration	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
response to vitamin	1
response to lipid	1
response to oxygen-containing compound	1
cell population proliferation	1
monoatomic anion transport	1
regulation of monoatomic ion transport	1
maternal placenta development	1
developmental process involved in reproduction	1
tissue development	1
calcium ion transport	1
negative regulation of monoatomic ion transport	1
regulation of calcium ion transport	1
skeletal system development	1
animal organ development	1
response to cAMP	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
response to glucocorticoid	1
cellular response to corticosteroid stimulus	1
response to hypoxia	1
cellular response to stress	1
cellular response to decreased oxygen levels	1
regulation of cardiac muscle contraction	1

Protein interactions and networks

STRING

1318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STC1	SLC34A1	Q06495	669
STC1	CCK	P06307	668
STC1	TNFAIP6	P98066	608
STC1	GCG	P01275	598
STC1	PYY	P10082	558
STC1	TNF	P01375	555
STC1	FFAR4	Q5NUL3	554
STC1	MBTPS1	Q14703	548
STC1	FFAR1	O14842	511
STC1	SREBF2	Q12772	507
STC1	TAS1R3	Q7RTX0	493
STC1	STC2	O76061	478
STC1	SCT	P09683	465
STC1	SREBF1	P36956	463
STC1	CALR	P27797	457

IntAct

7 interactions, top by confidence:

A	B	Type	Score
STC1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
STC1	STC1	psi-mi:“MI:0407”(direct interaction)	0.560
STC1	PAPPA	psi-mi:“MI:0407”(direct interaction)	0.440
STC1	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): STC1 (Two-hybrid), NOTCH1 (Affinity Capture-Western), STC1 (Affinity Capture-Western), NOTCH1 (Reconstituted Complex), STC1 (Cross-Linking-MS (XL-MS)), HSPA8 (Cross-Linking-MS (XL-MS)), CALR (Affinity Capture-Western), STC1 (Affinity Capture-Western), STC1 (Affinity Capture-Western), TNFAIP3 (Affinity Capture-Western), GSK3B (Affinity Capture-Western), STC1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0F7YYX3, A0A182IRF8, A0A1S4GYH9, A0A1S4GYJ6, A0A1S4HE90, B0X6Z1, B6DDQ8, F5HK49, G5EBL2, G5ECL4, M1JMQ7, O10309, O55183, O60477, P0CJ08, P0DQE5, P18153, P18301, P22815, P34404, P43648, P52823, P54194, P85831, P97574, Q06KA2, Q08264, Q09288, Q0IF93, Q10128, Q11077, Q16S34, Q24738, Q5E9L2, Q5MIW7, Q6P9Z6, Q7PJ76, Q7PN86, Q7PNF2, Q7ZZR3

Diamond homologs: O55183, O76061, O88452, O97561, P18301, P43647, P43648, P43649, P52823, P97574, Q08264, Q5RAT2, Q9N0T1, Q9R0K8, P57675

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

594 predictions. Top by Δscore:

Variant	Effect	Δscore
8:23845047:C:CT	acceptor_gain	1.0000
8:23845048:A:T	acceptor_gain	1.0000
8:23851315:TGTA:T	donor_loss	1.0000
8:23851317:TAC:T	donor_loss	1.0000
8:23851318:A:C	donor_loss	1.0000
8:23851349:G:GT	donor_gain	1.0000
8:23851527:TTTCC:T	acceptor_gain	1.0000
8:23851528:TTCC:T	acceptor_gain	1.0000
8:23851529:TCC:T	acceptor_gain	1.0000
8:23851530:CC:C	acceptor_gain	1.0000
8:23851530:CCC:C	acceptor_gain	1.0000
8:23851530:CCCTG:C	acceptor_loss	1.0000
8:23851531:CC:C	acceptor_gain	1.0000
8:23851532:C:CC	acceptor_gain	1.0000
8:23851533:T:A	acceptor_loss	1.0000
8:23851535:CCA:C	acceptor_gain	1.0000
8:23851536:C:CT	acceptor_gain	1.0000
8:23851536:C:T	acceptor_gain	1.0000
8:23851537:A:AC	acceptor_gain	1.0000
8:23851537:A:C	acceptor_gain	1.0000
8:23851537:A:T	acceptor_gain	1.0000
8:23845036:AGTAT:A	acceptor_gain	0.9900
8:23845037:GTAT:G	acceptor_gain	0.9900
8:23845038:TAT:T	acceptor_gain	0.9900
8:23845040:TCT:T	acceptor_loss	0.9900
8:23845041:C:CC	acceptor_gain	0.9900
8:23845041:C:CG	acceptor_loss	0.9900
8:23845042:T:C	acceptor_loss	0.9900
8:23851312:G:C	donor_gain	0.9900
8:23851348:C:CT	donor_gain	0.9900

AlphaMissense

1637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:23851531:C:G	G88R	1.000
8:23851531:C:T	G88R	1.000
8:23852281:A:C	C74W	1.000
8:23852282:C:T	C74Y	1.000
8:23845006:A:G	C170R	0.999
8:23851409:G:C	C128W	0.999
8:23851411:A:G	C128R	0.999
8:23851501:A:G	C98R	0.999
8:23851508:G:C	S95R	0.999
8:23851508:G:T	S95R	0.999
8:23851510:T:G	S95R	0.999
8:23851514:T:A	K93N	0.999
8:23851514:T:G	K93N	0.999
8:23851515:T:A	K93I	0.999
8:23851518:A:T	V92D	0.999
8:23851526:T:A	K89N	0.999
8:23851526:T:G	K89N	0.999
8:23852261:G:T	A81D	0.999
8:23852282:C:A	C74F	0.999
8:23852282:C:G	C74S	0.999
8:23852283:A:G	C74R	0.999
8:23852283:A:T	C74S	0.999
8:23852309:C:G	C65S	0.999
8:23852309:C:T	C65Y	0.999
8:23852310:A:G	C65R	0.999
8:23852310:A:T	C65S	0.999
8:23852326:G:C	C59W	0.999
8:23852327:C:G	C59S	0.999
8:23852327:C:T	C59Y	0.999
8:23852328:A:G	C59R	0.999

dbSNP variants (sampled 300 via entrez): RS1000143646 (8:23852554 C>A), RS1000177149 (8:23848036 C>T), RS1000317558 (8:23856654 G>A), RS1000397551 (8:23848226 A>G), RS1000508694 (8:23849337 A>G), RS1000623268 (8:23855513 T>C), RS1000635789 (8:23855038 G>A), RS1000644284 (8:23851278 C>T), RS1000721053 (8:23842969 G>A), RS1000727065 (8:23849580 T>G), RS1000756919 (8:23855571 C>G), RS1000787327 (8:23841661 A>G), RS1000908058 (8:23849617 C>G), RS1001070082 (8:23842637 A>C,G), RS1001336846 (8:23843279 A>C,G)

Disease associations

OMIM: gene MIM:601185 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST000649_19	Chronic kidney disease	1.000000e-08
GCST001521_38	Subcutaneous adipose tissue	6.000000e-07
GCST001791_27	Urate levels	1.000000e-08
GCST003372_21	Glomerular filtration rate (creatinine)	2.000000e-15
GCST003401_28	Glomerular filtration rate in non diabetics (creatinine)	4.000000e-16
GCST003790_28	Glomerular filtration rate	3.000000e-07
GCST004267_4	Blood osmolality (transformed sodium)	5.000000e-06
GCST004292_23	Glomerular filtration rate (creatinine)	1.000000e-15
GCST005957_7	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-06
GCST005958_10	Waist-to-hip ratio adjusted for BMI (age >50)	3.000000e-08
GCST005962_21	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-11
GCST005984_33	Glomerular filtration rate	1.000000e-12
GCST005985_51	Creatinine levels	9.000000e-12
GCST005986_11	Blood urea nitrogen levels	4.000000e-09
GCST007344_100	Estimated glomerular filtration rate	3.000000e-23
GCST007733_14	Serum uric acid levels	3.000000e-08
GCST007876_129	Estimated glomerular filtration rate	3.000000e-34
GCST007877_11	Creatinine levels	4.000000e-11
GCST008058_205	Estimated glomerular filtration rate	2.000000e-62
GCST008059_118	Estimated glomerular filtration rate	4.000000e-53
GCST008060_14	Estimated glomerular filtration rate	3.000000e-07
GCST008062_57	Blood urea nitrogen levels	3.000000e-19
GCST008064_21	Chronic kidney disease	1.000000e-07
GCST008745_69	Estimated glomerular filtration rate in non-diabetics	5.000000e-23
GCST008747_169	Estimated glomerular filtration rate	1.000000e-33
GCST008790_31	Urinary albumin-to-creatinine ratio	3.000000e-09
GCST008794_45	Urinary albumin-to-creatinine ratio	4.000000e-09
GCST008971_61	Urate levels	4.000000e-19
GCST008972_143	Urate levels	2.000000e-25
GCST008972_98	Urate levels	2.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004761	uric acid measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

121 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases reaction, affects cotreatment, decreases expression, decreases reaction, increases expression	6
Valproic Acid	affects cotreatment, increases expression, decreases expression	6
Progesterone	increases reaction, affects cotreatment, decreases expression, decreases reaction	4
bisphenol A	decreases expression, increases expression, affects expression	3
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	decreases expression, increases expression, increases methylation	3
sodium arsenite	decreases expression, increases expression	2
ochratoxin A	increases expression	2
perfluorooctane sulfonic acid	decreases expression	2
perfluoro-n-nonanoic acid	decreases expression, increases expression	2
bisphenol S	decreases expression, decreases methylation	2
Temozolomide	affects response to substance, decreases expression	2
Troglitazone	decreases expression, increases expression	2
Vorinostat	decreases expression, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Doxorubicin	decreases expression	2
Oxygen	increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Genistein	affects cotreatment, decreases expression	2
sotorasib	affects cotreatment, decreases expression	1
4-(2-aminoethyl)benzenesulfonylfluoride	affects cotreatment, decreases expression, decreases reaction	1
daidzein	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression, increases expression	1
methyleugenol	decreases expression	1
lead acetate	decreases expression	1
sodium arsenate	increases expression, increases abundance	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
decabromobiphenyl ether	decreases expression	1

Clinical trials (associated diseases)

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