SST

Summary

SST (somatostatin, HGNC:11329) is a protein-coding gene on chromosome 3q27.3, encoding Somatostatin (P61278). Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH.

The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells.

Source: NCBI Gene 6750 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001048

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11329
Approved symbol	SST
Name	somatostatin
Location	3q27.3
Locus type	gene with protein product
Status	Approved
Aliases	SMST, SST1
Ensembl gene	ENSG00000157005
Ensembl biotype	protein_coding
OMIM	182450
Entrez	6750

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000287641

RefSeq mRNA: 1 — MANE Select: NM_001048 NM_001048

CCDS: CCDS3288

Canonical transcript exons

ENST00000287641 — 2 exons

Exon	Start	End
ENSE00001029669	187670154	187670394
ENSE00001029670	187668912	187669277

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 99.89.

FANTOM5 (CAGE): breadth broad, TPM avg 23.6973 / max 4534.5400, expressed in 321 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45999	23.6973	321

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	99.89	gold quality
islet of Langerhans	UBERON:0000006	99.85	gold quality
body of pancreas	UBERON:0001150	99.05	gold quality
duodenum	UBERON:0002114	99.04	gold quality
cardia of stomach	UBERON:0001162	98.88	gold quality
pancreas	UBERON:0001264	98.54	gold quality
jejunal mucosa	UBERON:0000399	98.25	gold quality
pylorus	UBERON:0001166	98.25	gold quality
orbitofrontal cortex	UBERON:0004167	97.20	gold quality
prefrontal cortex	UBERON:0000451	97.06	gold quality
nucleus accumbens	UBERON:0001882	96.97	gold quality
putamen	UBERON:0001874	96.93	gold quality
caudate nucleus	UBERON:0001873	96.89	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.29	gold quality
hypothalamus	UBERON:0001898	96.26	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.84	gold quality
lateral globus pallidus	UBERON:0002476	95.61	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.26	gold quality
amygdala	UBERON:0001876	95.14	gold quality
cingulate cortex	UBERON:0003027	94.06	gold quality
frontal pole	UBERON:0002795	93.97	gold quality
anterior cingulate cortex	UBERON:0009835	93.92	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	93.29	gold quality
frontal cortex	UBERON:0001870	93.05	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.97	gold quality
telencephalon	UBERON:0001893	92.86	gold quality
temporal lobe	UBERON:0001871	92.85	gold quality
neocortex	UBERON:0001950	92.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.47	gold quality
body of stomach	UBERON:0001161	92.17	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	342935.31
E-HCAD-31	yes	231389.04
E-GEOD-81547	yes	128339.49
E-GEOD-81608	yes	96965.90
E-ENAD-27	yes	92159.39
E-GEOD-83139	yes	67542.42
E-GEOD-93593	yes	15706.58
E-MTAB-8894	yes	2814.34
E-HCAD-25	yes	2520.70
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ALX3, AP1, ARX, ATF1, CEBPA, CEBPB, CEBPG, CREB1, ELK1, EWSR1, FOS, GATA3, IRF9, ISL1, JUN, LBX1, NEUROD1, NEUROG3, NKX2-2, NR3C1, PAX6, PDX1, PITX1, PTF1A, RAI1, SALL3, TOP2B, ZNF699

miRNA regulators (miRDB)

28 targeting SST, 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-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-197-3P	98.09	69.23	1004
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-1182	96.41	64.89	336
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-6822-5P	93.94	66.34	812
HSA-MIR-6750-5P	93.94	66.68	797

Literature-anchored findings (GeneRIF, showing 40)

• A critical analysis is made of the structure and physiology of SST and its receptors, and the possible role it plays in cell proliferation in animal models and the treatment of human tumors. (PMID:11753230)
• The somatostatin-28 (S-28) NPAMAP peptide sequence constitutes an accurate alpha-helix nucleation motif allowing for the generation of equal amounts of S-28 and somatostatin-14 from their common precursor in cultured cells. (PMID:11814357)
• Somatostatin acts as a selective chemoattractant for immature hematopoietic cells (PMID:11823046)
• Structural motifs in the somatostatin precursor (PMID:11860030)
• Somatostatin modulates G-CSF-induced but not interleukin-3-induced proliferative responses in myeloid 32D cells via activation of somatostatin receptor subtype 2. (PMID:11920268)
• present in human colorectal adenocarcinomas and liver metastases (PMID:12174892)
• somatostatin receptor 2 mRNA was selectively expressed, somatostatin mRNA was not detectable, and cortistatin mRNA was expressed in all samples of monocytes monocyte-derived macrophages, and dendritic cells in basal and lipopolysaccharide-activated state (PMID:12684217)
• somatostatin has a role in inhibiting ERK 1/2 signaling and the PI3-K pathway via the inhibition of Rac in SHSY5Y cells (PMID:12902325)
• Fasting but not postprandial hypersomatostatinemia, mainly due to an increase in SS-14, characterizes acromegaly. Excess GH/IGF-I could be a causal factor in somatostatin hypersecretion. (PMID:12952361)
• Reduced ghrelin, impaired growth hormone(GH) response to GHRH by excess FFA, and increased somatostatin tone contribute to reduced GH secretion in patients with HIV-lipodystrophy. (PMID:14559725)
• High concentration of somatostatin (SST) in respiratory centers of fetal brainstems correlates with its involvement in the inhibition of intrauterine breathing. (PMID:15266779)
• SST acts both centrally and peripherally to control the GH-IGF-I axis. (PMID:15286801)
• certain bioactive peptides such as somatostatin and substance P directly interact with human P-glycoprotein as endogenous substrates for P-glycoprotein-mediated transport (PMID:15358539)
• human visceral adipose tissue secretes SRIF during inflammation and sepsis (PMID:15472172)
• The regulation and control of gastrin, somatostatin in cell apoptosis of large intestine carcinoma may be directly related to the abnormal expression of bcl-2, bax. (PMID:15655830)
• Cortistatin is abundant in the vitreous fluid and significantly contributes to somatostatin-like immunoreactivity. (PMID:16043736)
• results show that Neuropilin-1 is expressed in ovarian tumours and that VEGF and somatostatin are co-expressed in the same tissue compartments raising the intriguing possibility that somatostatin may be important in angiogenesis in ovarian cancer (PMID:16211223)
• immunostaining for somatostatin identifies a subgroup of pancreatic ductal adenocarcinomas with a neuroendocrine component. This pattern of expression in neoplasms recapitulates the normal pattern during the embryonal development of the organ. (PMID:16284732)
• Abeta and hyperphosphorylated tau formation in somatostatin cells are basically independent events Decreased somatostatin only partly goes together with cytoskeletal changes in somatostatin cells in nucleus tuberalis lateralis of Alzheimer’s disease. (PMID:16456666)
• From 7 weeks of gestation, pancreatic duct epithelial cells begin to differentiate into insulin, glucagon and somatostatin-positive cells. (PMID:16736556)
• The present study, provides evidence of pro-SST and SST receptor (SSTR1 and 2A) mRNA expression in ocular ciliary epithelium (CE). (PMID:16764985)
• To the best of our knowledge, the present report is the second case report of a neuroendocrine gastric carcinoma expressing diffusely somatostatin as the only neuroendocrine regulatory peptide. (PMID:16804989)
• SST and TAC1 are involved in colon carcinogenesis. (PMID:16952549)
• Whereas disruption of cytoskeletal genes has been noted in HIVE, dysregulation of somatostatin has not, indicating that dysregulation of somatostatin is part of the molecular pathologic process of MDD in the setting of HIV. (PMID:17130427)
• Data show an increasing tendency in the expressions of GAS and SS in children with chronic gastritis and duodenal ulcer. (PMID:17229384)
• In proliferative diabetic retionopaathy, intravitreal SST-28 levels are significantly decreased in patients with diabetic macular edema. (PMID:17327350)
• Possible role of the lower production of SST in the pathogenesis of diabetic retinopathy. (PMID:17704349)
• This study provide the genetic association study between somatostatin and AD indicates that genetic variations in the somatostatin gene may modify the risk for AD among Finnish AD subjects. (PMID:17987251)
• Developmentally regulated expression of galanin and somatostatin may play a role in liver morphogenesis. (PMID:18196269)
• data show that somatostatin expression is not only seen in sporadic neuroendocrine tumors (NETs) but may also occur in gangliocytic paragangliomas, poorly differentiated NECs, and hereditary NETs (PMID:18310290)
• Gastrin and somatostatin play important roles in the regulation and control of cell apoptosis in large intestinal carcinoma, and the mechanism may be directly related to the aberrant expression of Fas and Fas ligand. (PMID:18473402)
• TGF beta induces the production of SST and potentially activates the negative growth autocrine loop of SST, which leads to the downstream induction of multiple growth inhibitory effectors. (PMID:18567806)
• Somatostatin regulates early trophoblast functions mainly through an interaction with SSTR2. (PMID:18617261)
• demonstrate diverse neuronal, neuroendocrine, and cardiovascular actions of a somatostatin gene-encoded hormone (PMID:18753129)
• An autocrine and paracrine role of SST in the lacrimal system and at the ocular surface and a role of SST in corneal immunology. (PMID:19106227)
• No clear association between prostate cancer risk and genetic variation of the SST gene was identified. (PMID:19423539)
• somatostatin decreases in Alzheimer’s disease and its expression may be linked with Abeta deposition (PMID:19559700)
• EPHB3, MASP1 and SST map to 3q26.2-q29 and may have roles in squamous cell carcinoma of the lung (PMID:19607727)
• Our results supported the notion that the C allele of the rs4988514 polymorphism may increase the risk for AD in the Chinese population and possibly have additive effect with the APOE epsilon4 allele. (PMID:19733630)
• down-regulated KLF4, CHGA, GPX3, SST and LIPF, together with up-regulated SERPINH1, THY1 and INHBA is an 8-gene signature for gastric cancer (PMID:20043075)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sst2	ENSDARG00000014190
danio_rerio	sst1.2	ENSDARG00000033161
danio_rerio	sst1.1	ENSDARG00000040799
mus_musculus	Sst	ENSMUSG00000004366
rattus_norvegicus	Sst	ENSRNOG00000001837

Protein

Protein identifiers

Somatostatin — P61278 (reviewed: P61278)

Alternative names: Growth hormone release-inhibiting factor

All UniProt accessions (1): P61278

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH. Also impairs ghrelin- and GnRH-stimulated secretion of GH1 and LH; the inhibition of ghrelin-stimulated secretion of GH1 can be further increased by neuronostatin. May enhance low-glucose-induced glucagon release by pancreatic alpha cells. This effect may be mediated by binding to GPR107 and PKA activation. May regulate cardiac contractile function. May compromise cardiomyocyte viability. In the central nervous system, may impair memory retention and may affect hippocampal excitability. May also have anxiolytic and anorexigenic effects. May play a role in arterial pressure regulation. May inhibit basal, but not ghrelin- or GnRH-stimulated secretion of GH1 or LH, but does not affect the release of other pituitary hormones, including PRL, ACTH, FSH or TSH. Potentiates inhibitory action of somatostatin on ghrelin-stimulated secretion of GH1, but not that on GnRH-stimulated secretion of LH.

Subcellular location. Secreted.

Post-translational modifications. C-terminal amidation of the neuronostatin peptide is required for its biological activity, including for the regulation of mean arterial pressure.

Similarity. Belongs to the somatostatin family.

RefSeq proteins (1): NP_001039* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004250	Somatostatin	Family
IPR018142	Somatostatin/Cortistatin_C	Domain

Pfam: PF03002

UniProt features (12 total): peptide 3, strand 2, sequence variant 2, signal peptide 1, propeptide 1, region of interest 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
7T10	ELECTRON MICROSCOPY	2.5
8ZBI	ELECTRON MICROSCOPY	2.79
7WIC	ELECTRON MICROSCOPY	2.8
7XAT	ELECTRON MICROSCOPY	2.85
7XMS	ELECTRON MICROSCOPY	2.9
8ZBJ	ELECTRON MICROSCOPY	2.94
7XMR	ELECTRON MICROSCOPY	3.1
7Y27	ELECTRON MICROSCOPY	3.48
7WJ5	ELECTRON MICROSCOPY	3.72
2MI1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61278-F1	65.76	0.05

Antibody-complex structures (SAbDab): 8 — 7T10, 7WIC, 7WJ5, 7XAT, 7XMS, 7Y27, 8ZBI, 8ZBJ

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 (1): 43

Disulfide bonds (1): 105–116

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-375276	Peptide ligand-binding receptors
R-HSA-418594	G alpha (i) signalling events
R-HSA-9022702	MECP2 regulates transcription of neuronal ligands
R-HSA-162582	Signal Transduction
R-HSA-212436	Generic Transcription Pathway
R-HSA-372790	Signaling by GPCR
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)
R-HSA-388396	GPCR downstream signalling
R-HSA-500792	GPCR ligand binding
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8986944	Transcriptional Regulation by MECP2

MSigDB gene sets: 186 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE45365_NK_CELL_VS_CD8_TCELL_UP, ATF_B, GOBP_DIGESTION, MODULE_92, MODULE_274, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOCC_SECRETORY_GRANULE, GOBP_HYPEROSMOTIC_RESPONSE, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, GOBP_CELL_CELL_SIGNALING, CREB_Q4, MODULE_66, IRF7_01

GO Biological Process (16): hyperosmotic response (GO:0006972), cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), cell-cell signaling (GO:0007267), chemical synaptic transmission (GO:0007268), response to nutrient (GO:0007584), digestion (GO:0007586), negative regulation of cell population proliferation (GO:0008285), hormone-mediated apoptotic signaling pathway (GO:0008628), response to xenobiotic stimulus (GO:0009410), response to acidic pH (GO:0010447), regulation of cell migration (GO:0030334), somatostatin signaling pathway (GO:0038170), response to amino acid (GO:0043200), response to steroid hormone (GO:0048545), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072)

GO Molecular Function (3): hormone activity (GO:0005179), protein binding (GO:0005515), receptor ligand activity (GO:0048018)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), neuronal cell body (GO:0043025), GABA-ergic synapse (GO:0098982), neuronal dense core vesicle (GO:0098992)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Signaling by GPCR	2
Class A/1 (Rhodopsin-like receptors)	1
GPCR downstream signalling	1
Transcriptional Regulation by MECP2	1
RNA Polymerase II Transcription	1
Signal Transduction	1
GPCR ligand binding	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	3
response to chemical	2
hormone-mediated signaling pathway	2
cellular anatomical structure	2
response to osmotic stress	1
G protein-coupled receptor activity	1
cell communication	1
signaling	1
anterograde trans-synaptic signaling	1
response to nutrient levels	1
multicellular organismal process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
apoptotic signaling pathway	1
response to pH	1
cell migration	1
regulation of cell motility	1
somatostatin receptor signaling pathway	1
response to acid chemical	1
response to hormone	1
response to lipid	1
regulation of biological quality	1
receptor ligand activity	1
binding	1
signaling receptor binding	1
signaling receptor activator activity	1
cytoplasm	1
somatodendritic compartment	1
cell body	1
synapse	1
dense core granule	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

9 interactions, top by confidence:

A	B	Type	Score
APP	SST	psi-mi:“MI:0915”(physical association)	0.560
LAGE3	CTSA	psi-mi:“MI:0914”(association)	0.530
GAB2	UBA6	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
PCDHGA9	UBA6	psi-mi:“MI:0914”(association)	0.350
PEX7	UBA6	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): SST (Negative Genetic), SST (Protein-peptide), SST (Reconstituted Complex)

ESM2 similar proteins: A0A0F7YZQ7, C0HKS0, C0HKS1, C0HKT5, C0HKV9, D3Z752, E2A6Z3, F1QQI2, I7C2V3, M0R8L2, O46688, P01168, P01169, P01170, P01171, P01210, P01211, P0DP56, P0DQY8, P12966, P12968, P12969, P13190, P19209, P21786, P22005, P23442, P26917, P33094, P47969, P49670, P50175, P60041, P60042, P61278, P61279, P81564, P85798, P87384, P87385

Diamond homologs: O46688, P01168, P01169, P01170, P01171, P09876, P19209, P21779, P21780, P26917, P33094, P49670, P60041, P60042, P61278, P61279, P61298, P61299, P69132, P69133, P69134, P81029, P87384, P87385, Q91194, Q9PRR0, Q9PRZ6, Q9W7E9, Q9W7F0, Q9YGH3, Q9YGH4, Q9YGH5, Q62949, O00230, P56469

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
TOP2B	“up-regulates quantity by expression”	SST	“transcriptional regulation”
SST	up-regulates	SSTR4	binding
MECP2	“up-regulates quantity by expression”	SST	“post transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

115 predictions. Top by Δscore:

Variant	Effect	Δscore
3:187669274:GTTC:G	acceptor_gain	1.0000
3:187669276:TC:T	acceptor_gain	1.0000
3:187669277:CC:C	acceptor_gain	1.0000
3:187669278:C:CC	acceptor_gain	1.0000
3:187669288:C:CT	acceptor_gain	1.0000
3:187669289:A:T	acceptor_gain	1.0000
3:187669296:A:C	acceptor_gain	1.0000
3:187670148:CCTTA:C	donor_loss	1.0000
3:187670149:CTTAC:C	donor_loss	1.0000
3:187670150:TTACC:T	donor_loss	1.0000
3:187670151:TA:T	donor_loss	1.0000
3:187670152:A:AC	donor_gain	1.0000
3:187670153:C:CC	donor_gain	1.0000
3:187670153:CCTG:C	donor_gain	1.0000
3:187669273:AGTTC:A	acceptor_gain	0.9900
3:187669275:TTC:T	acceptor_gain	0.9900
3:187669280:G:C	acceptor_gain	0.9900
3:187669280:G:GC	acceptor_gain	0.9900
3:187669282:A:AC	acceptor_gain	0.9900
3:187669282:A:C	acceptor_gain	0.9900
3:187669296:A:AC	acceptor_gain	0.9900
3:187669278:C:T	acceptor_gain	0.9800
3:187670153:CCT:C	donor_gain	0.8700
3:187669959:C:CT	acceptor_gain	0.7700
3:187670152:ACCTG:A	donor_gain	0.7700
3:187670153:CCTGC:C	donor_gain	0.7700
3:187669712:CAAT:C	donor_gain	0.7500
3:187669852:C:CT	acceptor_gain	0.7400
3:187670160:C:A	donor_gain	0.7200
3:187669707:TCTC:T	donor_gain	0.6900

AlphaMissense

738 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:187669083:C:A	K111N	1.000
3:187669083:C:G	K111N	1.000
3:187669086:C:A	W110C	1.000
3:187669086:C:G	W110C	1.000
3:187669088:A:G	W110R	1.000
3:187669088:A:T	W110R	1.000
3:187669089:G:C	F109L	1.000
3:187669089:G:T	F109L	1.000
3:187669090:A:C	F109C	1.000
3:187669091:A:G	F109L	1.000
3:187669092:G:C	F108L	1.000
3:187669092:G:T	F108L	1.000
3:187669093:A:C	F108C	1.000
3:187669094:A:G	F108L	1.000
3:187669102:C:G	C105S	1.000
3:187669103:A:G	C105R	1.000
3:187669103:A:T	C105S	1.000
3:187669115:G:A	R101C	1.000
3:187669070:A:G	C116R	0.999
3:187669075:G:A	T114I	0.999
3:187669081:G:A	T112I	0.999
3:187669084:T:A	K111M	0.999
3:187669084:T:G	K111T	0.999
3:187669085:T:C	K111E	0.999
3:187669087:C:G	W110S	0.999
3:187669091:A:T	F109I	0.999
3:187669093:A:G	F108S	0.999
3:187669095:A:C	N107K	0.999
3:187669095:A:T	N107K	0.999
3:187669098:C:A	K106N	0.999

dbSNP variants (sampled 300 via entrez): RS1000512510 (3:187671250 T>C), RS1002973028 (3:187671605 C>T), RS1003164371 (3:187669756 C>G,T), RS1006366915 (3:187672142 T>C), RS1006630903 (3:187670452 C>A,G,T), RS1007020693 (3:187669009 T>C,G), RS1007588682 (3:187668672 C>T), RS1007765147 (3:187670690 A>C), RS1008271478 (3:187668759 A>T), RS1010529829 (3:187669466 A>C), RS1011352629 (3:187670068 G>A), RS1011424772 (3:187670377 G>C,T), RS1012441936 (3:187671491 A>G), RS1012876338 (3:187669490 G>A,C), RS1016019916 (3:187668760 T>A,C)

Disease associations

OMIM: gene MIM:182450 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004219_1	Skin pigmentation	4.000000e-07
GCST005024_66	Pursuit maintenance gain	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Binding affinities (BindingDB)

1 measured of 2 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
SR 147778	KI	1000 nM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression, increases expression	2
mercuric bromide	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Tretinoin	increases expression	2
Valproic Acid	decreases expression, affects expression	2
terbufos	increases methylation	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
tetrabromobisphenol A	increases expression	1
tryptanthrine	increases expression	1
lafutidine	increases expression	1
CGP 52608	increases reaction, affects binding	1
Edotreotide	affects binding, decreases reaction	1
deguelin	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	increases expression	1
thifluzamide	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	affects methylation	1
Cyclic AMP	affects cotreatment, decreases reaction, increases chemical synthesis	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Dexamethasone	decreases expression	1
Fonofos	increases methylation	1
Colforsin	increases chemical synthesis, affects cotreatment, decreases reaction	1
Hydrogen Peroxide	decreases expression	1
Malathion	decreases expression	1

Clinical trials (associated diseases)

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