CHGB

Summary

CHGB (chromogranin B, HGNC:1930) is a protein-coding gene on chromosome 20p12.3, encoding Secretogranin-1 (P05060). Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides.

This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides.

Source: NCBI Gene 1114 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 118 total — 1 pathogenic
• MANE Select transcript: NM_001819

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1930
Approved symbol	CHGB
Name	chromogranin B
Location	20p12.3
Locus type	gene with protein product
Status	Approved
Aliases	SgI
Ensembl gene	ENSG00000089199
Ensembl biotype	protein_coding
OMIM	118920
Entrez	1114

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000378961, ENST00000455042, ENST00000488832, ENST00000886261, ENST00000966394, ENST00000966395

RefSeq mRNA: 1 — MANE Select: NM_001819 NM_001819

CCDS: CCDS13092

Canonical transcript exons

ENST00000378961 — 5 exons

Exon	Start	End
ENSE00000562402	5922335	5924100
ENSE00000658239	5916826	5916919
ENSE00001479393	5924972	5925353
ENSE00001649652	5911510	5911682
ENSE00003479799	5916326	5916372

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 99.72.

FANTOM5 (CAGE): breadth broad, TPM avg 14.9305 / max 3106.2303, expressed in 368 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183360	11.6084	263
183357	2.3376	262
183359	0.6295	119
183358	0.3551	110

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
paraflocculus	UBERON:0005351	99.72	gold quality
cerebellar vermis	UBERON:0004720	99.68	gold quality
type B pancreatic cell	CL:0000169	99.60	gold quality
cerebellar cortex	UBERON:0002129	99.54	gold quality
adenohypophysis	UBERON:0002196	99.54	gold quality
islet of Langerhans	UBERON:0000006	99.53	gold quality
cerebellar hemisphere	UBERON:0002245	99.53	gold quality
pituitary gland	UBERON:0000007	99.52	gold quality
cerebellum	UBERON:0002037	99.49	gold quality
pons	UBERON:0000988	99.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.36	gold quality
superior vestibular nucleus	UBERON:0007227	97.97	gold quality
endothelial cell	CL:0000115	97.85	gold quality
middle temporal gyrus	UBERON:0002771	97.31	gold quality
prefrontal cortex	UBERON:0000451	96.52	gold quality
frontal pole	UBERON:0002795	96.35	gold quality
right adrenal gland	UBERON:0001233	96.29	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.57	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.47	gold quality
left adrenal gland cortex	UBERON:0035825	95.44	gold quality
left adrenal gland	UBERON:0001234	95.20	gold quality
adrenal cortex	UBERON:0001235	95.19	gold quality
cortical plate	UBERON:0005343	95.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.00	gold quality
hypothalamus	UBERON:0001898	94.96	gold quality
substantia nigra pars compacta	UBERON:0001965	94.96	gold quality
adrenal gland	UBERON:0002369	94.52	gold quality
right frontal lobe	UBERON:0002810	94.44	gold quality
frontal cortex	UBERON:0001870	94.30	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.27	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-31	yes	28153.85
E-MTAB-5061	yes	20650.84
E-ENAD-27	yes	8418.89
E-MTAB-9154	yes	3579.11
E-GEOD-83139	yes	3043.92
E-GEOD-81547	yes	31.30
E-CURD-114	yes	12.69
E-HCAD-5	yes	8.03
E-GEOD-125970	yes	8.01
E-GEOD-84465	yes	6.95
E-HCAD-10	yes	5.99
E-MTAB-10042	no	349.50
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, EGR1, FOS, PDX1, REST, SP1, TFAP2A, VSX2

miRNA regulators (miRDB)

37 targeting CHGB, 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-1250-3P	99.96	70.04	4038
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-3132	97.96	67.91	711

Literature-anchored findings (GeneRIF, showing 36)

• Chromogranin B was selected as a candidate gene for schizophrenia. We systematically screened all the promoter and exon regions of the gene and detected 15 single nucleotide polymorphisms in a Chinese population. (PMID:11959426)
• CGA and CGB were also found to have an immune origin, being present in monocytes and neutrophils during coronary artery bypass surgery, possibly due to raised IL-6 plasma levels. (PMID:12091348)
• CgB may play some role in the early phase of neoplastic progression (PMID:12165659)
• there are four different types of chromogranin B in pancreatic islets as demonstrated by region-specific antibodies (PMID:12438147)
• Immunoreactive patterns of chromogranin A and B [CgA,CgB] were investigated in Creutzfeldt-Jakob disease and Alzheimer’s disease. CgB, but not CgA was selectively associated with prion protein deposits, whereas CgA was only seen in amyloid beta plaques (PMID:12692477)
• expression and localization of chromogranin A (CgA), chromogranin B (CgB), synaptophysin, and insulin were ultrastructurally studied with the immunogold technique in porcine and human pancreatic islet neuroendocrine cells (PMID:12826904)
• 5 CgB fragments were measured in plasma: CgB1-16, CgB312-331, CgB439-451, CgB568-577, & CgB647-657. Substantial heritability, as measured by h2r, was observed for 3 of the fragment concentrations, CgB312-331, CgB439-451, and CgB568-577. (PMID:15138309)
• 10 microsatellite markers were analyzed, and an association of schizophrenia was found with D20S882 and D20S905 that flank D20S95. The chromogranin B gene is 30 kb from D20S905. (PMID:15219467)
• Overall, our results suggest that at least one locus in or close to the CHGB gene confers risk of the disorder and strengthen the evidence that CHGB is a promising susceptibility gene for schizophrenia in Chinese population. (PMID:17143778)
• Locally infused tyramine produced dose-dependent pressor responses, predicted by family history of hypertension, sex, and genetic variants at loci, particularly CHGB, that encode the biosynthesis, storage, and metabolism of catecholamines. (PMID:18180394)
• semiquantitative immunocytochemistry for chromogranin B in amyotrophic lateral sclerosis (PMID:18721831)
• finding that CHGB may act as a susceptibility gene and modifier of onset in ALS is consistent with the emerging view that dysfunction of the secretory pathway may contribute to increased vulnerability of motor neurons (PMID:20007371)
• Genetic variation at the CHGB locus, in the proximal promoter, influences CHGB expression as well as catecholamine secretion and later the early heritable responses to environmental stress, and resting/basal Blood Pressure in the population. (PMID:20011129)
• The common CHGB promoter variants A-296C and A-261T, and their consequent haplotypes, alter binding of specific transcription factors to influence gene expression in cella as well as BP in vivo (PMID:20359597)
• common polymorphism in the 3’-UTR (C+84A) of CHGB, which disrupts an A/U-rich messenger ribonucleic acid stability element, associates with not only CHGB secretion but also excretion of isoprostane (PMID:20888525)
• Results do not support the 413L variant of chromogranin B as a risk factor for sporadic amyotrophic lateral sclerosis in the French population. (PMID:20932227)
• This short review deals with investigations in neuroendocrine tumors (NETs) with antibodies against defined epitopes of chromogranins (Cgs) A and B and secretogranins (Sgs) II and III. (PMID:21046454)
• The roles of Cgs A and B in maintaining the intravesicular environment of secretory vesicles and in exocytosis, bringing together the most recent findings from adrenal chromaffin cells, are discussed. (PMID:21046455)
• Our findings suggest that altered PTEN, ATRX, CHGA, and CHGB expression are associated with aggressive PNET phenotype in VHL and may serve as useful adjunct prognostic markers to Ki-67 in PNETs. (PMID:23361940)
• CgA, CgB, and secretoneurin are detectable in feces, and collagenous colitis patients express higher values than patients with inflammatory bowel disease and controls. In treatment, fecal secretoneurin decreased to control levels in collagenous colitis. (PMID:23423580)
• A heterogeneous response to short- and long-term physical activities among circulating granin proteins, particularly chromogranin B. (PMID:23816467)
• CgA and CgB have been used as general NEN biomarkers for many years, while CART has only recently been identified (PMID:23939195)
• The polymorphism P413L in the CHGB gene was not associated with sporadic amyotrophic lateral sclerosis in a group of Italian patients. (PMID:26003296)
• intracellular calcium binding protein Sg1 is increased in early multiple sclerosis (MS) patients compared to relapsing-remitting MS and neurological controls. (PMID:26152395)
• Data indicate that measurement of chromogranin A (CgA) alone is sufficient in the management of patients with neuroendocrine tumours (NETs) and that routine additional measurement of chromogranin B (CgB) provides little added value. (PMID:26608723)
• Circulating chromogranin B (CgB) levels measured on Intensive Care Unit (ICU) admission provided additional prognostic information to established risk indices in acute respiratory failure (ARF) patients. (PMID:28049363)
• results presented here suggest that CHGB variant alleles, the rare CHGB-L413 and common CHGB-P413, may act as modifiers of ALS disease dependent on their expression levels which is higher in females because of a sex-determining region Y element in the CHGB gene promoter. (PMID:28175304)
• our results suggest that genetic variants of CHGB may have sex-specific effects on the risk of schizophrenia and provide useful preliminary information for further study. (PMID:28332369)
• Compared with chromogranin A, chromogranin B may be more useful during proton pump inhibitor treatment and can detect tumors without liver metastases. (PMID:28334992)
• evidence suggests that the P413L variant of chromogranin B is not associated with amyotrophic lateral sclerosis (ALS) risk or age at ALS onset (meta-analysis). (PMID:28795874)
• Data suggest that chromogranin B (CGB) is a promising emerging biomarker in heart failure (HF) patients with unique potential to integrate information from myocardial stress and neuro-endocrine activation. (PMID:29098879)
• the GAL3ST4 and the CHGB allele variants 23 and 48 are novel genetic loci involved in susceptibility to leprosy among female and male population, respectively (PMID:29180661)
• These data collectively point out CHGB as a possible preoperative and postoperative marker for pheochromocytomas and abdominal paragangliomas with potential for aggressive behavior (PMID:30451732)
• serum levels of CgA, CgB, and SgII were determined in Parkinson’s disease patients and assessed their association with disease severity. (PMID:30887724)
• Chromogranin B in blood serum of patients with neuroendocrine tumors.", trans “capital HA, Cyrillicsmall er, Cyrillicsmall o, Cyrillicsmall em, Cyrillicsmall o, Cyrillicsmall ghe, Cyrillicsmall er, Cyrillicsmall a, Cyrillicsmall en, Cyrillicsmall i, Cyrillicsmall en, Cyrillic capital VE, Cyrillic small ve, Cyrillic small es, Cyrillicsmall yeru, Cyrillicsmall ve, Cyrillicsmall o, Cyrillicsmall er, Cyrillicsmall o, Cyril… (PMID:36095079)
• The mechanisms of chromogranin B-regulated Cl- homeostasis. (PMID:36511243)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Chgb	ENSMUSG00000027350
rattus_norvegicus	Chgb	ENSRNOG00000021269

Paralogs (1): CHGA (ENSG00000100604)

Protein

Protein identifiers

Secretogranin-1 — P05060 (reviewed: P05060)

Alternative names: Chromogranin-B, Secretogranin I

All UniProt accessions (2): P05060, A0A0A0MT66

UniProt curated annotations — full annotation on UniProt →

Function. Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides.

Subunit / interactions. Interacts with ITPR1 in the secretory granules.

Subcellular location. Secreted.

Tissue specificity. Detected in cerebrospinal fluid and urine (at protein level). Expressed in the adrenal medulla, and in pheochromocytoma. Not expressed in liver.

Post-translational modifications. Extensively processed by limited proteolysis at conserved basic residues. Alternative processing are seen in different tissues. O-glycosylated.

Similarity. Belongs to the chromogranin/secretogranin protein family.

RefSeq proteins (1): NP_001810* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001819	Chromogranin_AB	Family
IPR001990	Granin	Family
IPR018054	Chromogranin_CS	Conserved_site

Pfam: PF01271

UniProt features (63 total): modified residue 28, compositionally biased region 12, sequence variant 10, region of interest 4, peptide 3, glycosylation site 2, signal peptide 1, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05060-F1	48.73	0.03

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 (28): 79, 93, 99, 100, 130, 149, 183, 225, 259, 263, 293, 294, 311, 335, 341, 367, 377, 380, 401, 405 …

Disulfide bonds (1): 36–57

Glycosylation sites (2): 93, 239

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: 147 (showing top): ATF_B, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOCC_SECRETORY_GRANULE, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, CREBP1_Q2, CREB_Q4, MODULE_66, ATF1_Q6, E4F1_Q6, ATF3_Q6, CREB_Q2_01, KIM_GERMINAL_CENTER_T_HELPER_UP, SABATES_COLORECTAL_ADENOMA_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, GOMF_SIGNALING_RECEPTOR_BINDING

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (2): hormone activity (GO:0005179), protein binding (GO:0005515)

GO Cellular Component (4): obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), secretory granule (GO:0030141), 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
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
endomembrane system	1
secretory vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHGB	CHGA	P10645	978
CHGB	SCG2	P13521	972
CHGB	SCG3	Q8WXD2	895
CHGB	SCG5	P01164	866
CHGB	NPY	P01303	830
CHGB	CPE	P16870	728
CHGB	PENK	P01210	725
CHGB	VIP	P01282	721
CHGB	PCSK1N	Q9UHG2	670
CHGB	VGF	O15240	653
CHGB	PNMT	P11086	609
CHGB	SYP	P08247	574
CHGB	PDYN	P01213	562
CHGB	PYY	P10082	550
CHGB	GAST	P01350	536

IntAct

43 interactions, top by confidence:

A	B	Type	Score
CHGB	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.730
LRRK2	CHGB	psi-mi:“MI:0407”(direct interaction)	0.730
FAM20C	CHGB	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
CHGB	MFHAS1	psi-mi:“MI:0407”(direct interaction)	0.440
CHGB	LRRK1	psi-mi:“MI:0407”(direct interaction)	0.440
CHGB	ANXA7	psi-mi:“MI:0915”(physical association)	0.370
CHGB	CDKN1A	psi-mi:“MI:0915”(physical association)	0.370
PKN2	CHGB	psi-mi:“MI:0915”(physical association)	0.370
RAC2	CHGB	psi-mi:“MI:0915”(physical association)	0.370
RAP1B	CHGB	psi-mi:“MI:0915”(physical association)	0.370
CHGB	RCC1	psi-mi:“MI:0915”(physical association)	0.370
TK1	CHGB	psi-mi:“MI:0915”(physical association)	0.370
ECH1	MCRIP1	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
PICALM	CHGB	psi-mi:“MI:0915”(physical association)	0.000
CHGB	SMAD2	psi-mi:“MI:0915”(physical association)	0.000
SMAD2	CHGB	psi-mi:“MI:0915”(physical association)	0.000
TUBB2A	CHGB	psi-mi:“MI:0915”(physical association)	0.000
YLPM1	CHGB	psi-mi:“MI:0915”(physical association)	0.000
FGFR3	CHGB	psi-mi:“MI:0915”(physical association)	0.000
POLD1	CHGB	psi-mi:“MI:0915”(physical association)	0.000
PTEN	CHGB	psi-mi:“MI:0915”(physical association)	0.000
S100A8	CHGB	psi-mi:“MI:0915”(physical association)	0.000
SLC25A6	CHGB	psi-mi:“MI:0915”(physical association)	0.000
ACACA	CHGB	psi-mi:“MI:0915”(physical association)	0.000
CBFB	CHGB	psi-mi:“MI:0915”(physical association)	0.000
PRAG1	CHGB	psi-mi:“MI:0915”(physical association)	0.000
CCDC92	CHGB	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (42): CHGB (Reconstituted Complex), CHGB (Reconstituted Complex), CHGB (Reconstituted Complex), CHGB (Reconstituted Complex), CHGB (Affinity Capture-MS), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid), CHGB (Two-hybrid)

ESM2 similar proteins: A0JMK6, A5A6J6, B9WZ56, C0HKY1, C0HM54, E1ZXU8, O12956, O35314, O35417, O70176, P01165, P01282, P01362, P05060, P05408, P06300, P06308, P10362, P12285, P12961, P13521, P13589, P16014, P16613, P17685, P17686, P18509, P18844, P20616, P23389, P27682, P30945, P41534, P41535, P41585, P45644, P48143, P48144, P81401, P85799

Diamond homologs: O35314, P05060, P16014, P23389, Q9GLG4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	101
Likely benign	6
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2427039	NC_000020.10:g.(?5896972)(6012016_?)del	Pathogenic

SpliceAI

1139 predictions. Top by Δscore:

Variant	Effect	Δscore
20:5916322:A:AG	acceptor_gain	1.0000
20:5916323:A:G	acceptor_gain	1.0000
20:5916915:GACGA:G	donor_gain	1.0000
20:5916918:GA:G	donor_gain	1.0000
20:5916920:G:GG	donor_gain	1.0000
20:5911526:G:GT	donor_gain	0.9900
20:5911664:G:GT	donor_gain	0.9900
20:5911681:GG:G	donor_gain	0.9900
20:5911682:GG:G	donor_gain	0.9900
20:5916324:A:G	acceptor_gain	0.9900
20:5916325:GCT:G	acceptor_gain	0.9900
20:5916820:CCCCA:C	acceptor_loss	0.9900
20:5916821:CCCA:C	acceptor_loss	0.9900
20:5916822:CCA:C	acceptor_loss	0.9900
20:5916823:CAGG:C	acceptor_loss	0.9900
20:5916825:G:GC	acceptor_loss	0.9900
20:5916917:CGA:C	donor_gain	0.9900
20:5916918:GAG:G	donor_gain	0.9900
20:5916918:GAGTA:G	donor_loss	0.9900
20:5916919:AGTA:A	donor_loss	0.9900
20:5916920:G:GA	donor_loss	0.9900
20:5916921:TA:T	donor_loss	0.9900
20:5916922:AAGT:A	donor_loss	0.9900
20:5922333:A:AG	acceptor_gain	0.9900
20:5922334:G:GA	acceptor_loss	0.9900
20:5922334:G:GG	acceptor_gain	0.9900
20:5922334:GGTA:G	acceptor_gain	0.9900
20:5924970:A:AG	acceptor_gain	0.9900
20:5924971:G:GG	acceptor_gain	0.9900
20:5924971:GAA:G	acceptor_gain	0.9900

AlphaMissense

4535 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:5925012:T:C	L666P	0.991
20:5916835:T:A	C36S	0.989
20:5916836:G:C	C36S	0.989
20:5916835:T:C	C36R	0.988
20:5916898:T:A	C57S	0.987
20:5916899:G:C	C57S	0.987
20:5916898:T:C	C57R	0.984
20:5916837:C:G	C36W	0.983
20:5925023:G:C	A670P	0.981
20:5916836:G:A	C36Y	0.980
20:5916836:G:T	C36F	0.975
20:5924002:T:C	F620L	0.971
20:5924004:T:A	F620L	0.971
20:5924004:T:G	F620L	0.971
20:5923857:G:C	W571C	0.970
20:5923857:G:T	W571C	0.970
20:5923973:T:C	L610P	0.970
20:5924982:T:C	L656P	0.970
20:5924991:T:C	L659S	0.968
20:5916851:T:C	L41P	0.967
20:5924996:G:C	A661P	0.967
20:5916900:C:G	C57W	0.966
20:5925003:A:C	D663A	0.964
20:5916851:T:A	L41H	0.963
20:5925003:A:T	D663V	0.962
20:5925012:T:A	L666Q	0.960
20:5916899:G:A	C57Y	0.959
20:5925001:G:A	M662I	0.959
20:5925001:G:C	M662I	0.959
20:5925001:G:T	M662I	0.959

dbSNP variants (sampled 300 via entrez): RS1000203594 (20:5909921 C>A), RS1000245093 (20:5915011 T>C), RS1000255913 (20:5910238 A>G), RS1000354322 (20:5920751 A>G), RS1000404730 (20:5921012 T>C), RS1000476911 (20:5916042 A>G), RS1000853145 (20:5916660 A>C,G), RS1001007331 (20:5910059 C>T), RS1001389858 (20:5914938 G>A), RS1001392912 (20:5920404 C>T), RS1001458214 (20:5910411 C>T), RS1001736496 (20:5914613 C>T), RS1001838313 (20:5909579 T>C), RS1001872968 (20:5917509 C>T), RS1002197311 (20:5921913 T>G)

Disease associations

OMIM: gene MIM:118920 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006616_4	Uterine fibroid number (single vs multiple)	1.000000e-06
GCST009391_435	Metabolite levels	6.000000e-06
GCST009391_591	Metabolite levels	8.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009410	uterine fibroid measurement
EFO:0010385	phosphatidylcholine 38:3 measurement
EFO:0010501	indole-3-propionate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
sotorasib	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	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
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	increases expression, affects cotreatment	1
Resveratrol	increases expression	1
Arsenic Trioxide	increases expression	1
Lycopene	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Camptothecin	increases expression	1
Cisplatin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases expression	1
Tunicamycin	increases expression	1
Urethane	increases expression	1
Cadmium Chloride	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C0PW	PC12-27 c7	Cancer cell line	Male

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
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer