MUC6

Summary

MUC6 (mucin 6, oligomeric mucus/gel-forming (gene/pseudogene), HGNC:7517) is a protein-coding gene on chromosome 11p15.5, encoding Mucin-6 (Q6W4X9). May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen.

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen.

Source: NCBI Gene 4588 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 49 total
• Cancer driver (intOGen): activating (oncogene-like) across 3 cancer types
• MANE Select transcript: NM_005961

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7517
Approved symbol	MUC6
Name	mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	MUC-6
Ensembl gene	ENSG00000184956
Ensembl biotype	protein_coding
OMIM	158374
Entrez	4588

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000421673, ENST00000525923, ENST00000527242, ENST00000532016

RefSeq mRNA: 1 — MANE Select: NM_005961 NM_005961

CCDS: CCDS44513

Canonical transcript exons

ENST00000421673 — 33 exons

Exon	Start	End
ENSE00001491469	1019275	1019496
ENSE00001491470	1020090	1020257
ENSE00001491472	1020684	1020734
ENSE00001491473	1021215	1021277
ENSE00001491475	1023509	1023652
ENSE00001491476	1023947	1024103
ENSE00001491478	1024844	1025083
ENSE00001491480	1025182	1025367
ENSE00001491481	1025805	1025915
ENSE00001491483	1026000	1026141
ENSE00001491484	1026327	1026478
ENSE00001491485	1026941	1027050
ENSE00001491488	1027141	1027193
ENSE00001491491	1027268	1027517
ENSE00001491492	1027685	1027817
ENSE00001491494	1027965	1028059
ENSE00001491496	1028226	1028387
ENSE00001491497	1028646	1028783
ENSE00001491498	1028889	1028961
ENSE00001491499	1029046	1029150
ENSE00001491503	1029228	1029366
ENSE00001491506	1029495	1029615
ENSE00001491507	1030213	1030335
ENSE00001491513	1030573	1030780
ENSE00001491517	1030947	1031056
ENSE00001491518	1031169	1031259
ENSE00001491520	1031607	1031733
ENSE00001491521	1031813	1032053
ENSE00001491522	1033013	1033075
ENSE00001491523	1036604	1036718
ENSE00001540005	1013899	1014001
ENSE00001739408	1015762	1018770
ENSE00002187406	1012823	1013633

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 96.95.

FANTOM5 (CAGE): breadth broad, TPM avg 34.3308 / max 23223.1356, expressed in 220 samples.

FANTOM5 promoters (36 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117951	13.2388	42
117879	4.4057	36
117880	3.7367	59
117882	2.7386	49
117883	2.5725	41
117886	2.2511	31
117877	0.8883	21
117885	0.7212	19
117865	0.5696	15
117878	0.4231	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	96.95	gold quality
duodenum	UBERON:0002114	92.82	gold quality
pancreas	UBERON:0001264	89.93	gold quality
body of stomach	UBERON:0001161	88.40	gold quality
stomach	UBERON:0000945	88.00	gold quality
gall bladder	UBERON:0002110	81.20	gold quality
fundus of stomach	UBERON:0001160	80.75	gold quality
sural nerve	UBERON:0015488	78.80	gold quality
islet of Langerhans	UBERON:0000006	76.43	gold quality
right lobe of liver	UBERON:0001114	74.21	gold quality
right uterine tube	UBERON:0001302	73.14	gold quality
liver	UBERON:0002107	70.98	gold quality
endocervix	UBERON:0000458	69.49	gold quality
left uterine tube	UBERON:0001303	68.08	gold quality
superior frontal gyrus	UBERON:0002661	66.40	gold quality
colonic epithelium	UBERON:0000397	66.21	gold quality
cerebellum	UBERON:0002037	64.66	gold quality
cerebellar cortex	UBERON:0002129	64.37	gold quality
fallopian tube	UBERON:0003889	64.16	gold quality
cerebellar hemisphere	UBERON:0002245	63.83	gold quality
primary visual cortex	UBERON:0002436	63.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	63.16	gold quality
nucleus accumbens	UBERON:0001882	63.06	gold quality
kidney	UBERON:0002113	62.32	gold quality
cortex of kidney	UBERON:0001225	62.26	gold quality
putamen	UBERON:0001874	61.97	gold quality
adult mammalian kidney	UBERON:0000082	61.42	gold quality
bone marrow cell	CL:0002092	60.88	gold quality
caudate nucleus	UBERON:0001873	59.72	gold quality
skeletal muscle tissue	UBERON:0001134	59.58	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AIRE, ATOH1, CTNNB1, GATA5, NFKB1, NR1I2, RELA, SP1, SP3

miRNA regulators (miRDB)

27 targeting MUC6, 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-185-3P	99.95	67.01	1743
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-609	99.82	64.26	505
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280

Literature-anchored findings (GeneRIF, showing 40)

• Gastric MUC5AC and MUC6 are large oligomeric mucins that differ in size, glycosylation and tissue distribution (PMID:11988092)
• Aberrant expression of MUC5AC and MUC6 gastric mucins and sialyl Tn antigen in intraepithelial neoplasms of the pancreas. (PMID:12360467)
• complete genomic (exon/intron) organization (PMID:15081123)
• Data suggest that MUC6 is expressed in tissues other than stomach and pancreas and that the tandem repeat shows greater variation that previously reported. (PMID:15716126)
• Our results suggest that MUC6 transcription is regulated by NFkappaB and Sp family members. (PMID:15979574)
• MUC6-positive tumours were significantly associated with higher frequencies of the gains of 20q13.2, compared with MUC6-negative tumours (71.4 vs 30.0%, P=0.0349). (PMID:16447040)
• Overexpresssed in the progression and lymphatic metastasis of prostate cancer. (PMID:16475027)
• Down-regulation of MUC6 may contribute to malignant transformation of gastric epithelial cells and underlie the molecular bases of growth, invasion, metastasis and differentiation of gastric carcinoma. (PMID:16807756)
• Short MUC6 alleles are associated with H pylori infection. (PMID:17009402)
• Expressions of membrane (MUC1) and secreted (MUC5AC, MUC6) mucins are frequently modified in reactive gastropathy. (PMID:17227128)
• Downregulation of MUC6 is associated with disease progression to adenocarcinoma of the esophagus (PMID:17401217)
• this study demonstrates the important role for methylation and/or histone modifications in regulating the 11p15 mucin genes in epithelial cancer cells. (PMID:17471237)
• The TFF1-GKN2 heterodimer and TFF2 differ characteristically by their binding to gastric mucins. (PMID:17982272)
• Report MUC6 expression/pathological features of adenomatous and foveolar gastric epithelial dysplasia. (PMID:18300795)
• MUC6 was found to have 100% specificity in distinguishing sessile serrated adenoma from hyperplastic polyp (PMID:18360351)
• rates of positivity for E-cadherin and beta-catenin membranous expression patterns and mucin (MUC2, MUC5AC and MUC6) positivity were higher in the young group (P<0.01)than in old patients with gastric carcinoma (PMID:18825309)
• Reflux laryngitis is associated with down-regulation of mucin gene expression. (PMID:18834073)
• Mucin 6 in seminal plasma may therefore interfere with the sexual transmission of HIV-1 by binding to DC-SIGN. (PMID:19682628)
• MUC6 expression is strongly associated with proximal location of serrated polyps, but only has modest utility as a tissue biomarker for sessile serrated adenoma. (PMID:19855374)
• Expression of MUC6 in oncocytic/pancreatobiliary-type neoplasms but not in villous/intestinal-type neoplasms supports the presence of a pyloropancreatic pathway distinct from the MUC2/CDX2 expressing intestinal pathway in intraductal papillary neoplasia. (PMID:20139757)
• The short rare MUC6-minisatellite5 alleles may be related to cancer development by the regulation of MUC6 expression. (PMID:20506113)
• Positive immunoreactivity for MUC6 appears to be a complementary marker for malignant transformation of gastric epithelial neoplasia (PMID:20602200)
• It is concluded that the expression pattern of secreted mucins including MUC2 and MUC6 is altered in gastric carcinoma. (PMID:20878553)
• MUC1, MUC2, MUC5AC, and MUC6 may have a role in malignant transformation and invasion to mucosa or the muscularis mucosae in colorectal polyps (PMID:20929551)
• Tn glycosylation of the MUC6 protein modulates its immunogenicity and promotes the induction of Th17-biased T cell responses. (PMID:21193402)
• use of MUC6 to differentiate hyperplastic polyps from sessile serrated adenoma/polyps (SSA/P) or SSA/P with dysplasia in individual cases is not reliable because of a lack of specificity. (PMID:21490447)
• Polymorphisms in MUC1, MUC2, MUC5B and MUC6 genes are not associated with the risk of chronic atrophic gastritis. (PMID:21596555)
• results suggest that MUC6 may inhibit invasion of tumor cells through the basement membrane of the pancreatic duct and slow the development of infiltrating carcinoma. (PMID:21851820)
• Report Divergent expression of MUC5AC, MUC6, MUC2, CD10, and CDX-2 in dysplasia and intramucosal adenocarcinomas with intestinal and foveolar morphology and roles in neoplastic progression. (PMID:22261707)
• No significant association was found with variants in the MUC6 gene and evolution of gastric cancer precursor lesions. (PMID:22402132)
• A significant association between short rare MUC6-MS5 alleles (7, 9 repeats) and the occurrence of rectal cancer. (PMID:23054008)
• Overexpression of EZH2 may be associated with malignant behaviour in intraductal papillary neoplasm of the bile duct in parallel with up-regulated MUC1 expression and down-regulated MUC6 expression. (PMID:23163606)
• Secretory carcinomas of breast show a unique pattern of strong MUC2, MUC6, and MUC 4 expression. (PMID:23305535)
• Data indicate that MUC1 and MUC4 were differentially glycosylated as the disease progressed, and the expression of MUC6 in acinar cells. (PMID:23446997)
• we report the expression pattern of MUC2, MUC5AC, MUC5B, and MUC6 in a large series of colorectal carcinomas (PMID:23807779)
• High MUC6 expression is associated with gastric carcinoma. (PMID:23828549)
• CDX2, MUC1, MUC5AC, and MUC6 expression patterns may provide better estimations of survival after surgical resection of small intestinal adenocarcinoma. (PMID:24603585)
• The expression of a subset of mucins (MUC2, MUC6, MUC5B) was also correlated with sialyl-Tn expression in LS174T cells. (PMID:24840470)
• There was no difference in the expression of deep MUC1, MUC2, MUC5AC, or MUC6 between the groups of gastric cancer and controls. (PMID:24901817)
• Human TTF2 is a lectin that binds alpha-GlcNAc-capped mucin 6 g with antibiotic activity against Helicobacter pylori. (PMID:25124036)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Muc6	ENSMUSG00000118661
rattus_norvegicus	Muc6	ENSRNOG00000056817

Paralogs (19): CHRDL2 (ENSG00000054938), CHRD (ENSG00000090539), CHRDL1 (ENSG00000101938), TECTA (ENSG00000109927), VWF (ENSG00000110799), MUC5B (ENSG00000117983), KCP (ENSG00000135253), ZAN (ENSG00000146839), CRIM1 (ENSG00000150938), BMPER (ENSG00000164619), OTOGL (ENSG00000165899), VWCE (ENSG00000167992), VWC2L (ENSG00000174453), OTOG (ENSG00000188162), VWC2 (ENSG00000188730), MUC2 (ENSG00000198788), MUC19 (ENSG00000205592), MUC5AC (ENSG00000215182), FCGBP (ENSG00000275395)

Protein

Protein identifiers

Mucin-6 — Q6W4X9 (reviewed: Q6W4X9)

Alternative names: Gastric mucin-6

All UniProt accessions (4): E9PJC5, H0YDA7, H0YEZ6, Q6W4X9

UniProt curated annotations — full annotation on UniProt →

Function. May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis.

Subunit / interactions. Multimer; disulfide-linked.

Subcellular location. Secreted.

Tissue specificity. Expressed in the regenerative zone of gastric antrum, gastric body mucosa and gastric incisura mucosa. Expressed in the deeper mucous glands of gastric antrum. Overexpressed in Helicobacter pylori infected gastric epithelium. Highly expressed in duodenal Brunner’s glands, gall bladder, seminal vesicle, pancreatic centroacinar cells and ducts, and periductal glands of the common bile duct.

Post-translational modifications. O-glycosylated.

Induction. Up-regulated by NFKB1. Repressed by mithramycin A which is an inhibitor of binding of transcription factors.

Polymorphism. The number of repeats is highly polymorphic and varies among different alleles. These repeats are very similar but not identical.

RefSeq proteins (1): NP_005952* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001007	VWF_dom	Domain
IPR001846	VWF_type-D	Domain
IPR002919	TIL_dom	Domain
IPR006207	Cys_knot_C	Domain
IPR014853	VWF/SSPO/ZAN-like_Cys-rich_dom	Domain
IPR036084	Ser_inhib-like_sf	Homologous_superfamily
IPR050780	Mucin_vWF_Thrombospondin_sf	Family

Pfam: PF00094, PF01826, PF08742

UniProt features (100 total): sequence conflict 37, compositionally biased region 25, disulfide bond 13, region of interest 9, domain 5, glycosylation site 5, repeat 2, sequence variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6W4X9-F1	59.49	0.19

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 (13): 45–176, 67–213, 397–533, 419–578, 868–1002, 890–1037, 899–999, 917–924, 2349–2396, 2363–2410, 2372–2430, 2376–2432, 0–2437

Glycosylation sites (5): 268, 486, 659, 975, 1179

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-5083632	Defective C1GALT1C1 causes TNPS
R-HSA-5083636	Defective GALNT12 causes CRCS1
R-HSA-5621480	Dectin-2 family
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5621481	C-type lectin receptors (CLRs)
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 106 (showing top): GOBP_DIGESTION, REACTOME_INNATE_IMMUNE_SYSTEM, BROWNE_HCMV_INFECTION_48HR_DN, ROZANOV_MMP14_TARGETS_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOBP_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM, GOBP_DIGESTIVE_SYSTEM_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_EPITHELIAL_STRUCTURE_MAINTENANCE, LIU_CDX2_TARGETS_UP, GOBP_HOMEOSTATIC_PROCESS, GOCC_GOLGI_LUMEN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (1): maintenance of gastrointestinal epithelium (GO:0030277)

GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (5): obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	3
C-type lectin receptors (CLRs)	1
O-linked glycosylation	1
O-linked glycosylation of mucins	1
Immune System	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Innate Immune System	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
epithelial structure maintenance	1
digestive system process	1
structural molecule activity	1
extracellular matrix	1
binding	1
Golgi apparatus	1
intracellular organelle lumen	1
membrane	1
cell periphery	1
external encapsulating structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1662 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUC6	MUC2	Q02817	983
MUC6	MUC1	P13931	954
MUC6	MUC7	Q8TAX7	896
MUC6	TFF2	Q03403	885
MUC6	MUC5AC	P98088	835
MUC6	MUC4	Q99102	825
MUC6	MUC12	Q9UKN1	791
MUC6	ATOH1	Q92858	790
MUC6	MUC17	Q685J3	788
MUC6	MUC16	Q8WXI7	785
MUC6	MUC13	Q9H3R2	784
MUC6	CDX2	Q99626	770
MUC6	A4GNT	Q9UNA3	744
MUC6	MUC20	Q8N307	730
MUC6	TFF1	P04155	726

IntAct

0 interactions, top by confidence:

BioGRID (2): MUC6 (Negative Genetic), MUC6 (Affinity Capture-MS)

ESM2 similar proteins: C9J798, O18735, O43374, O60568, O70293, O70309, O75051, O95294, O97583, P00533, P04626, P04629, P06494, P18084, P21860, P26013, P35739, P43250, P52849, P52850, P55245, P70206, P70207, P70424, P80747, P97711, Q01279, Q0VBD0, Q3UFB7, Q4V7F2, Q5EA46, Q5R6K5, Q5RB22, Q60553, Q61526, Q62799, Q6W4X9, Q8IZ69, Q91009, Q91XD7

Diamond homologs: B7PCV3, Q6W4X9, F1NBL0, F7A4A7, P0DM55, P98088, P98091, P98092, Q02817, Q28295, Q28833, Q2PC93, Q3ZCN5, Q62635, Q6PZE0, Q7Z5P9, Q80T03, Q80Z19, Q8T0W0, Q98UI9, Q9HC84, A2VEC9, O55225, P80012, P98167, Q3U492, Q5RCW9, Q6ZRI0, Q700K0, Q8CG65, P0DM56, Q9Y493, A0A2R4SV19, K7WRE1, P56682, P57999, P83516, Q18158, Q8T0W5, U5T7E4

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 3 cancer types — AML, HCC, LUSC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	23
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

5339 predictions. Top by Δscore:

Variant	Effect	Δscore
11:1013634:C:CC	acceptor_gain	1.0000
11:1021213:A:AC	donor_gain	1.0000
11:1021214:C:CC	donor_gain	1.0000
11:1023945:A:AC	donor_gain	1.0000
11:1023946:C:CC	donor_gain	1.0000
11:1023946:CGG:C	donor_gain	1.0000
11:1024839:CCCA:C	donor_loss	1.0000
11:1024840:CCAC:C	donor_loss	1.0000
11:1024841:CACCT:C	donor_loss	1.0000
11:1024842:ACC:A	donor_loss	1.0000
11:1024843:CCTTG:C	donor_gain	1.0000
11:1025363:AGGCC:A	acceptor_gain	1.0000
11:1025364:GGCC:G	acceptor_gain	1.0000
11:1025365:GCC:G	acceptor_gain	1.0000
11:1025366:CC:C	acceptor_gain	1.0000
11:1025366:CCC:C	acceptor_gain	1.0000
11:1025367:CCTG:C	acceptor_gain	1.0000
11:1025368:C:CC	acceptor_gain	1.0000
11:1025799:GCTCA:G	donor_loss	1.0000
11:1025800:CTCA:C	donor_loss	1.0000
11:1025801:TCA:T	donor_loss	1.0000
11:1025802:CAC:C	donor_loss	1.0000
11:1025803:A:AC	donor_gain	1.0000
11:1025803:AC:A	donor_gain	1.0000
11:1025803:ACC:A	donor_gain	1.0000
11:1025803:ACCC:A	donor_gain	1.0000
11:1025804:C:CC	donor_gain	1.0000
11:1025804:CC:C	donor_gain	1.0000
11:1025804:CCC:C	donor_gain	1.0000
11:1025804:CCCC:C	donor_gain	1.0000

AlphaMissense

15730 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1023966:C:A	W1121C	1.000
11:1023966:C:G	W1121C	1.000
11:1023570:C:A	W1155C	0.999
11:1023570:C:G	W1155C	0.999
11:1023968:A:G	W1121R	0.999
11:1023968:A:T	W1121R	0.999
11:1024863:A:C	F1069C	0.999
11:1026120:C:A	W856C	0.999
11:1026120:C:G	W856C	0.999
11:1027707:C:A	W653C	0.999
11:1027707:C:G	W653C	0.999
11:1030592:C:A	W291C	0.999
11:1030592:C:G	W291C	0.999
11:1024887:C:G	C1061S	0.998
11:1024888:A:T	C1061S	0.998
11:1027798:C:T	C623Y	0.998
11:1023949:C:G	C1127S	0.997
11:1023950:A:G	C1127R	0.997
11:1023950:A:T	C1127S	0.997
11:1023963:C:A	R1122S	0.997
11:1023963:C:G	R1122S	0.997
11:1023964:C:G	R1122T	0.997
11:1023993:A:C	C1112W	0.997
11:1024007:A:C	Y1108D	0.997
11:1024888:A:G	C1061R	0.997
11:1024901:C:A	W1056C	0.997
11:1024901:C:G	W1056C	0.997
11:1027355:C:G	C715S	0.997
11:1027356:A:T	C715S	0.997
11:1027797:G:C	C623W	0.997

dbSNP variants (sampled 300 via entrez): RS1000002702 (11:1031379 C>A,T), RS1000077766 (11:1022608 G>T), RS1000174558 (11:1033440 C>T), RS1000303603 (11:1035049 C>G,T), RS1000352149 (11:1037539 C>T), RS1000741148 (11:1038644 G>A,C), RS1000917940 (11:1034679 C>T), RS1000954178 (11:1030554 C>G), RS1001006819 (11:1030737 C>T), RS1001069195 (11:1027911 G>A,C), RS1001193609 (11:1035861 G>A,T), RS1001336995 (11:1021737 G>A,T), RS1001341852 (11:1026651 A>C), RS1001464173 (11:1037178 A>G), RS1001515068 (11:1037492 T>C)

Disease associations

OMIM: gene MIM:158374 | 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

5 associations (top):

Study	Trait	p-value
GCST006303_17	Nicotine withdrawal symptom count	7.000000e-08
GCST006869_9	Nicotine withdrawal	3.000000e-07
GCST007993_21	Asthma (adult onset)	1.000000e-08
GCST009798_52	Asthma	2.000000e-10
GCST012100_18	Hypertrophic cardiomyopathy (sarcomere positive)	4.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009263	nicotine withdrawal symptom count
EFO:0009362	nicotine withdrawal measurement
EFO:1002011	adult onset asthma

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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Air Pollutants	affects methylation, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
ferrous chloride	decreases expression	1
licochalcone B	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Methotrexate	decreases expression	1
Ozone	affects methylation, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	increases abundance, increases expression	1

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