STC2

Summary

STC2 (stanniocalcin 2, HGNC:11374) is a protein-coding gene on chromosome 5q35.2, encoding Stanniocalcin-2 (O76061). Has an anti-hypocalcemic action on calcium and phosphate homeostasis.

This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers.

Source: NCBI Gene 8614 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_003714

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11374
Approved symbol	STC2
Name	stanniocalcin 2
Location	5q35.2
Locus type	gene with protein product
Status	Approved
Aliases	STC-2
Ensembl gene	ENSG00000113739
Ensembl biotype	protein_coding
OMIM	603665
Entrez	8614

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000265087, ENST00000518455, ENST00000519511, ENST00000520593, ENST00000520648

RefSeq mRNA: 1 — MANE Select: NM_003714 NM_003714

CCDS: CCDS4388

Canonical transcript exons

ENST00000265087 — 4 exons

Exon	Start	End
ENSE00001244708	173314723	173318249
ENSE00001327850	173328043	173328414
ENSE00003635696	173323219	173323430
ENSE00003684772	173325868	173326010

Expression profiles

Bgee: expression breadth ubiquitous, 192 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 115.0080 / max 3410.7786, expressed in 1486 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64960	104.2199	1470
64961	8.4911	1204
64958	1.1603	506
64959	0.7661	472
64962	0.3707	162

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	98.03	gold quality
tibia	UBERON:0000979	97.12	gold quality
epithelium of mammary gland	UBERON:0003244	93.88	gold quality
mammary duct	UBERON:0001765	93.49	gold quality
endometrium epithelium	UBERON:0004811	90.82	gold quality
mammary gland	UBERON:0001911	89.98	gold quality
thoracic mammary gland	UBERON:0005200	89.95	gold quality
body of pancreas	UBERON:0001150	87.12	gold quality
cartilage tissue	UBERON:0002418	86.11	gold quality
calcaneal tendon	UBERON:0003701	84.69	gold quality
pancreas	UBERON:0001264	82.64	gold quality
right atrium auricular region	UBERON:0006631	80.56	gold quality
upper lobe of left lung	UBERON:0008952	80.02	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.41	gold quality
lower esophagus	UBERON:0013473	79.36	gold quality
placenta	UBERON:0001987	79.28	gold quality
gall bladder	UBERON:0002110	78.77	gold quality
smooth muscle tissue	UBERON:0001135	78.70	gold quality
upper lobe of lung	UBERON:0008948	78.67	gold quality
cardiac atrium	UBERON:0002081	78.54	gold quality
skin of leg	UBERON:0001511	78.31	gold quality
spleen	UBERON:0002106	77.63	gold quality
epithelial cell of pancreas	CL:0000083	77.54	silver quality
tendon	UBERON:0000043	77.01	gold quality
omental fat pad	UBERON:0010414	76.83	gold quality
left lobe of thyroid gland	UBERON:0001120	76.82	gold quality
peritoneum	UBERON:0002358	76.73	gold quality
secondary oocyte	CL:0000655	76.21	gold quality
left coronary artery	UBERON:0001626	76.16	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.94	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	195.91
E-ANND-3	yes	9.13
E-MTAB-7037	no	581.89
E-MTAB-6678	no	2.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AFF4, AHR, BRD4, CDK7, CDK8, CDK9, ESR1, H4C2, HIF1A, MED1, POLR2A, RELA

miRNA regulators (miRDB)

114 targeting STC2, 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-5193	100.00	67.26	1744
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929

Literature-anchored findings (GeneRIF, showing 40)

• STC-2 can act as a potent growth inhibitor and reduce intramembranous and endochondral bone development and skeletal muscle growth, implying that these tissues are specific physiological targets of stanniocalcins (PMID:15367391)
• Recombinant human and fish STC2 proteins were generated and found to be N-glycosylated homodimers. STC2 is a functional homodimeric glycoprotein, and thecal cell-derived STC2 could play a paracrine role during follicular development. (PMID:15486227)
• NTN4, TRA1, and STC2 have roles in progression of breast cancer (PMID:17545519)
• The induction of GDF15 and STC2 is likely specific to MK-4, vitamin K2 analog. (PMID:17909264)
• 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)
• STC2 was aberrantly hypermethylated in human cancer cells. (PMID:18394600)
• Stanniocalcin 2 expression is regulated by hormone signalling and negatively affects breast cancer cell viability in vitro. (PMID:18492817)
• stanniocalcin 2 overexpression in a prostate cancer cell line promoted prostate cancer cell growth, indicating its oncogenic property (PMID:19298603)
• Increased STC2 gene expression is associated with colorectal cancer. (PMID:19415750)
• Stanniocalcin 2 promotes invasion and is associated with metastatic stages in neuroblastoma. (PMID:19582875)
• STC2 is a HIF-1 target gene and is involved in the regulation of cell proliferation. (PMID:19786016)
• Human stanniocalcin-1 or -2 expressed in mice reduces bone size and severely inhibits cranial intramembranous bone growth. (PMID:20174869)
• High expression level of Stanniocalcin 2 is associated with gastric cancer. (PMID:20422456)
• STC2 is a positive regulator in tumor progression at hypoxia. (PMID:20619259)
• High STC2 is associated with lymph node metastases in squamous cell esophageal carcinoma. (PMID:20734150)
• These findings point to three novel functions of STC2, and suggest that STC2 interacts with HO1 to form a eukaryotic ‘stressosome’ involved in the degradation of heme. (PMID:22503972)
• STC2 is upregulated in hepatocellular carcinoma and promotes cell proliferation and migration. (PMID:23187001)
• High STC2 expression levels are associated with disease recurrence in patients with gastric cancer. (PMID:23548070)
• Stanniocalcin-1 and -2 promote angiogenic sprouting in HUVECs via VEGF/VEGFR2 and angiopoietin signaling pathways. (PMID:23664860)
• High STC2 expression is associated with lymph node metastasis in squamous cell/adenosquamous carcinomas and adenocarcinoma of gallbladder. (PMID:23906305)
• Our results indicate that STC2 could be a useful molecular blood marker for predicting tumor progression by monitoring CTCs in patients with gastric cancer. (PMID:24100594)
• stanniocalcin 2 (STC2) was the most highly upregulated gene in anti-VEGF antibody-treated tumors (PMID:24375080)
• Interleukin-1-induced changes in the glioblastoma secretome suggest its role in tumor progression. (PMID:24503185)
• STC2 overexpression correlates to poor prognosis for nasopharyngeal carcinomas. (PMID:24606961)
• High STC2 expression is associated with glioma. (PMID:24729417)
• Circulating STC1 and STC2 mRNA are potentially useful blood markers for LSCC (PMID:24743310)
• The aim of this study was to evaluate the clinical value of measuring expression levels of STC2 in colorectal cancer (CRC) patients. (PMID:25234931)
• These findings suggest that STC2 can be a potential lung cancer biomarker and plays a positive role in lung cancer metastasis and progression. (PMID:25463045)
• Stanniocalcin 2 may contribute to tumor development and radioresistance in cervical cancer. (PMID:25674244)
• This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance. (PMID:25771305)
• STC2 may inhibit epithelial-mesenchymal transition at least partially through the PKC/Claudin-1-mediated signaling in human breast cancer cells. (PMID:25830567)
• The results showed that the expression of HMGA2 and STC2 was positively correlated. Furthermore, STC2 expression was significantly associated with tumor grade and histotype. (PMID:26165228)
• STC2 has a role in promoting cell proliferation and cisplatin resistance in cervical cancer (PMID:26361149)
• Up-regulation of CDK2 and CDK4 and down-regulation of cell cycle inhibitors p16 and p21 were observed after the delivery of STC2. Furthermore, STC2 transduction activated pAKT and pERK 1/2 signal pathways. (PMID:26424558)
• Data suggest that stanniocalcin 1 and 2 (STC1, STC2) participate in inhibition of proteolytic activity of pregnancy-associated plasma protein-A (PAPP-A) during folliculogenesis. (PMID:26874357)
• STC2 is involved in regulating PAPP-A activity during the development of atherosclerosis (PMID:26983002)
• Our results demonstrated the contrasting effects of STC1 and STC2-derived peptides on human macrophage foam cell formation associated with ACAT1 expression and on HASMC migration. (PMID:27346255)
• STC2 promotes colorectal cancer tumorigenesis and epithelial-mesenchymal transition (EMT) progression through activating ERK/MEK and PI3K/AKT signaling pathways. (PMID:27662663)
• Results show that STC2 promotes head and neck squamous cell carcinoma cell proliferation, tumor growth, and metastasis through the PI3K/AKT/Snail pathway. (PMID:27863406)
• These findings indicated that STC2 may promote osteoblast differentiation and mineralization by regulating ERK activation (PMID:27878259)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	stc2a	ENSDARG00000056680
danio_rerio	stc2b	ENSDARG00000102206
mus_musculus	Stc2	ENSMUSG00000020303
rattus_norvegicus	Stc2	ENSRNOG00000020729
caenorhabditis_elegans	W01A8.8	WBGENE00044988

Paralogs (1): STC1 (ENSG00000159167)

Protein

Protein identifiers

Stanniocalcin-2 — O76061 (reviewed: O76061)

Alternative names: Stanniocalcin-related protein

All UniProt accessions (4): O76061, E5RG57, H0YB13, Q6FHC9

UniProt curated annotations — full annotation on UniProt →

Function. Has an anti-hypocalcemic action on calcium and phosphate homeostasis.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Secreted.

Tissue specificity. Expressed in a variety of tissues including muscle, heart, pancreas, kidney, spleen, prostate, small intestine, colon and peripheral blood leukocytes.

Similarity. Belongs to the stanniocalcin family.

RefSeq proteins (1): NP_003705* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004978	Stanniocalcin	Family

Pfam: PF03298

UniProt features (23 total): helix 12, modified residue 3, strand 2, region of interest 2, signal peptide 1, chain 1, compositionally biased region 1, glycosylation site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8A7D	ELECTRON MICROSCOPY	3.06
7Y5Q	ELECTRON MICROSCOPY	3.8
8HGH	ELECTRON MICROSCOPY	4.16
8A7E	ELECTRON MICROSCOPY	5.02

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76061-F1	73.48	0.47

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 (3): 250, 251, 254

Glycosylation sites (1): 73

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 352 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, AHRARNT_01, CREL_01, MODULE_92, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BENPORATH_ES_WITH_H3K27ME3, GGTGTGT_MIR329, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOZGIT_ESR1_TARGETS_DN, MENSE_HYPOXIA_UP, GOBP_GROWTH, GOBP_REGULATION_OF_HORMONE_LEVELS

GO Biological Process (15): intracellular calcium ion homeostasis (GO:0006874), response to oxidative stress (GO:0006979), embryo implantation (GO:0007566), negative regulation of gene expression (GO:0010629), endoplasmic reticulum unfolded protein response (GO:0030968), response to vitamin D (GO:0033280), negative regulation of multicellular organism growth (GO:0040015), response to peptide hormone (GO:0043434), decidualization (GO:0046697), regulation of hormone biosynthetic process (GO:0046885), cellular response to hypoxia (GO:0071456), regulation of store-operated calcium entry (GO:2001256), signal transduction (GO:0007165), response to endoplasmic reticulum stress (GO:0034976), calcium ion homeostasis (GO:0055074)

GO Molecular Function (4): hormone activity (GO:0005179), enzyme binding (GO:0019899), heme binding (GO:0020037), protein homodimerization activity (GO:0042803)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), perinuclear region of cytoplasm (GO:0048471), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of proteins	2
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
response to oxygen-containing compound	2
cellular response to stress	2
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
response to stress	1
multicellular organism development	1
female pregnancy	1
reproductive process	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
cellular response to unfolded protein	1
response to endoplasmic reticulum stress	1
intracellular signal transduction	1
response to vitamin	1
response to lipid	1
multicellular organism growth	1
regulation of multicellular organism growth	1
negative regulation of developmental growth	1
negative regulation of multicellular organismal process	1
response to hormone	1
response to nitrogen compound	1
maternal placenta development	1
developmental process involved in reproduction	1
tissue development	1
regulation of biosynthetic process	1
regulation of hormone metabolic process	1
hormone biosynthetic process	1
response to hypoxia	1
cellular response to decreased oxygen levels	1
store-operated calcium entry	1
regulation of calcium ion transport	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1

Protein interactions and networks

STRING

872 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STC2	SLC34A1	Q06495	740
STC2	PAPPA	Q13219	621
STC2	PGR	P06401	507
STC2	RPL37A	P12751	507
STC2	ESR1	P03372	506
STC2	CLDN1	O95832	505
STC2	PAPPA2	Q9BXP8	505
STC2	CLDN7	O95471	487
STC2	XKR4	Q5GH76	484
STC2	OAZ1	P54368	479
STC2	STC1	P52823	478
STC2	IGFBP4	P22692	476
STC2	AZGP1	P25311	476
STC2	HMOX1	P09601	467
STC2	CRELD1	Q96HD1	440

IntAct

38 interactions, top by confidence:

A	B	Type	Score
CCNJL	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
	PLOD2	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
FAM20C	STC2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
STC2	ANXA2	psi-mi:“MI:0915”(physical association)	0.400
STC2	AFMID	psi-mi:“MI:0915”(physical association)	0.400
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.350
IGF1R	HAX1	psi-mi:“MI:0914”(association)	0.350
INSR	HAX1	psi-mi:“MI:0914”(association)	0.350
PDGFRB	NDUFA4	psi-mi:“MI:0914”(association)	0.350
HLA-DQA1	TMEM223	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
COLEC10	PLOD2	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
LY86	PLXNB2	psi-mi:“MI:0914”(association)	0.350
STC2	NME2P1	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
PDGFRA	QSOX1	psi-mi:“MI:0914”(association)	0.350
KLK1	CRLF1	psi-mi:“MI:0914”(association)	0.350
POLR2C	STC2	psi-mi:“MI:0915”(physical association)	0.000
POLR3F	STC2	psi-mi:“MI:0915”(physical association)	0.000
ARRB2	STC2	psi-mi:“MI:0915”(physical association)	0.000
ARHGEF40	STC2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (58): STC2 (Affinity Capture-MS), STC2 (Affinity Capture-MS), STC2 (Affinity Capture-MS), STC2 (Affinity Capture-MS), STC2 (Affinity Capture-RNA), STC2 (Affinity Capture-MS), STC2 (Affinity Capture-MS), STC2 (Affinity Capture-MS), STC2 (Two-hybrid), STC2 (Two-hybrid), STC2 (Two-hybrid), STC2 (Two-hybrid), STC2 (Two-hybrid), STC2 (Two-hybrid), STC2 (Two-hybrid)

ESM2 similar proteins: A0A0F7YYX3, A1Z0Q5, E1BRC3, E2AX35, E9PVB5, F5HFJ7, O76061, O88452, O97561, P03172, P06476, P09259, P09728, P22484, P24872, P28967, P28981, P32514, P33802, P36318, P55082, P57083, P68327, P84393, P85831, Q05059, Q2YDM0, Q3TBN1, Q499E0, Q4R6V5, Q5BKX0, Q5PQN2, Q5R9E4, Q5RDR5, Q69091, Q69467, Q6AY76, Q6AYF7, Q6DLD9, Q6NVG5

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

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
HIF1A	“up-regulates quantity by expression”	STC2	“transcriptional regulation”
STC2	up-regulates	STAT3
STC2	“form complex”	STC2/HMOX1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	6	11.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

639 predictions. Top by Δscore:

Variant	Effect	Δscore
5:173323211:GTACT:G	donor_loss	1.0000
5:173323215:TCA:T	donor_loss	1.0000
5:173323216:CAC:C	donor_loss	1.0000
5:173323217:A:AC	donor_gain	1.0000
5:173323217:ACT:A	donor_gain	1.0000
5:173323218:C:CG	donor_gain	1.0000
5:173323218:CT:C	donor_gain	1.0000
5:173323218:CTC:C	donor_gain	1.0000
5:173323218:CTCG:C	donor_gain	1.0000
5:173323218:CTCGT:C	donor_gain	1.0000
5:173323426:TTGCC:T	acceptor_gain	1.0000
5:173323440:C:CT	acceptor_gain	1.0000
5:173323447:C:CT	acceptor_gain	1.0000
5:173323448:G:T	acceptor_gain	1.0000
5:173326006:CTCCG:C	acceptor_gain	1.0000
5:173326007:TCCG:T	acceptor_gain	1.0000
5:173326008:CCG:C	acceptor_gain	1.0000
5:173326008:CCGC:C	acceptor_gain	1.0000
5:173326009:CG:C	acceptor_gain	1.0000
5:173326009:CGC:C	acceptor_gain	1.0000
5:173326011:C:CC	acceptor_gain	1.0000
5:173323210:AGTAC:A	donor_loss	0.9900
5:173323212:TAC:T	donor_loss	0.9900
5:173323213:A:AC	donor_gain	0.9900
5:173323213:AC:A	donor_loss	0.9900
5:173323214:C:CC	donor_gain	0.9900
5:173323214:CTCA:C	donor_gain	0.9900
5:173323258:A:AC	donor_gain	0.9900
5:173323427:TGCC:T	acceptor_gain	0.9900
5:173323428:GCC:G	acceptor_gain	0.9900

AlphaMissense

1990 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:173323413:T:A	K104N	0.998
5:173323413:T:G	K104N	0.998
5:173323414:T:A	K104I	0.998
5:173325907:G:C	C85W	0.998
5:173325908:C:T	C85Y	0.998
5:173325909:A:G	C85R	0.998
5:173325954:A:G	C70R	0.998
5:173325959:A:C	F68C	0.998
5:173325968:C:G	C65S	0.998
5:173325969:A:T	C65S	0.998
5:173323310:A:G	C139R	0.997
5:173323399:C:G	C109S	0.997
5:173323400:A:T	C109S	0.997
5:173323425:C:A	K100N	0.997
5:173323425:C:G	K100N	0.997
5:173323430:C:G	G99R	0.997
5:173325878:A:C	F95C	0.997
5:173325878:A:G	F95S	0.997
5:173325935:C:G	C76S	0.997
5:173325935:C:T	C76Y	0.997
5:173325936:A:T	C76S	0.997
5:173325952:A:C	C70W	0.997
5:173325953:C:G	C70S	0.997
5:173325954:A:T	C70S	0.997
5:173325968:C:T	C65Y	0.997
5:173325969:A:G	C65R	0.997
5:173323429:C:T	G99D	0.996
5:173325908:C:A	C85F	0.996
5:173325908:C:G	C85S	0.996
5:173325909:A:T	C85S	0.996

dbSNP variants (sampled 300 via entrez): RS1000661026 (5:173315824 C>G,T), RS1000729018 (5:173317063 G>A), RS1000898056 (5:173327859 G>A), RS1000955238 (5:173322565 TAAACCG>T), RS1001052048 (5:173321767 C>A,T), RS1001068099 (5:173328567 A>G,T), RS1001077901 (5:173321562 G>A), RS1001330355 (5:173327623 G>A,C), RS1001720996 (5:173325694 A>G), RS1001793155 (5:173321405 G>A), RS1002070060 (5:173325484 G>A), RS1002475838 (5:173327189 T>A), RS1002496407 (5:173316146 G>A), RS1002790283 (5:173316344 T>C), RS1003197846 (5:173324272 C>G,T)

Disease associations

OMIM: gene MIM:603665 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST001942_9	Prostate cancer	5.000000e-08
GCST002702_120	Height	2.000000e-09
GCST002829_25	Urate levels in overweight individuals	5.000000e-06
GCST004745_4	Immunoglobulin A vasculitis	5.000000e-06
GCST006061_41	Atrial fibrillation	1.000000e-14
GCST008362_107	Birth weight	2.000000e-08
GCST008839_460	Height	2.000000e-06
GCST009302_1	Antipsychotic drug-induced weight gain in schizophrenia	1.000000e-06
GCST90000025_506	Appendicular lean mass	2.000000e-14
GCST90000025_507	Appendicular lean mass	9.000000e-52
GCST90000025_508	Appendicular lean mass	3.000000e-21
GCST90000026_5	Appendicular lean mass	7.000000e-25
GCST90000027_30	Appendicular lean mass	1.000000e-30
GCST90011894_5	Retinitis pigmentosa	8.000000e-06
GCST90020024_925	A body shape index	3.000000e-08
GCST90020025_693	Waist-to-hip ratio adjusted for BMI	2.000000e-14
GCST90020027_697	Waist-hip index	2.000000e-14
GCST90020028_1008	Hip circumference adjusted for BMI	1.000000e-09
GCST90020028_1009	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:1000965	Henoch-Schoenlein purpura
EFO:0004344	birth weight
EFO:0004567	antipsychotic drug related weight gain
EFO:0004980	appendicular lean mass
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, affects cotreatment, decreases expression, decreases reaction	12
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression	9
Cyclosporine	affects expression, increases expression	7
Particulate Matter	decreases reaction, increases expression, increases abundance, affects cotreatment	6
bisphenol A	affects expression, increases expression	4
sodium arsenite	decreases expression, increases abundance, increases expression	4
Benzo(a)pyrene	affects expression, increases expression, increases methylation	4
Oxygen	decreases reaction, increases expression, increases reaction	4
trichostatin A	affects cotreatment, decreases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	3
Tretinoin	decreases expression, increases expression	3
Tunicamycin	increases expression	3
nickel chloride	increases expression	2
hydroquinone	increases expression	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
enniatins	increases expression	2
entinostat	increases expression, affects cotreatment	2
monomethylarsonous acid	increases expression	2
Decitabine	affects methylation, affects binding, increases reaction, increases expression, affects expression	2
Troglitazone	increases expression	2
Air Pollutants	increases abundance, increases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Copper	affects binding, increases expression	2
Doxorubicin	increases expression, affects response to substance	2
Phenobarbital	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Polychlorinated Biphenyls	increases expression, affects expression	2
Progesterone	affects cotreatment, decreases expression, decreases reaction, increases expression	2
Silicon Dioxide	increases expression	2

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1Z6	Abcam A-549 STC2 KO	Cancer cell line	Male
CVCL_D2D8	Abcam HCT 116 STC2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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