RUBCNL

Summary

RUBCNL (rubicon like autophagy enhancer, HGNC:20420) is a protein-coding gene on chromosome 13q14.13, encoding Protein associated with UVRAG as autophagy enhancer (Q9H714). Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy.

This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients.

Source: NCBI Gene 80183 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 25 total — 1 likely-pathogenic
• MANE Select transcript: NM_025113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20420
Approved symbol	RUBCNL
Name	rubicon like autophagy enhancer
Location	13q14.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21562, PACER
Ensembl gene	ENSG00000102445
Ensembl biotype	protein_coding
OMIM	620175
Entrez	80183

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 25 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000378781, ENST00000378784, ENST00000378787, ENST00000378797, ENST00000389908, ENST00000409879, ENST00000417405, ENST00000429979, ENST00000439642, ENST00000441284, ENST00000487195, ENST00000631139, ENST00000675291, ENST00000675351, ENST00000675585, ENST00000675678, ENST00000675992, ENST00000676051, ENST00000676063, ENST00000676084, ENST00000676114, ENST00000676307, ENST00000853107, ENST00000853108, ENST00000853109, ENST00000853110, ENST00000853111, ENST00000853112, ENST00000853113, ENST00000853114, ENST00000853115, ENST00000853116

RefSeq mRNA: 8 — MANE Select: NM_025113 NM_001286761, NM_001286762, NM_001286763, NM_001286764, NM_001286765, NM_001286766, NM_001349772, NM_025113

CCDS: CCDS31970, CCDS66542, CCDS66543, CCDS66544, CCDS66545, CCDS73569

Canonical transcript exons

ENST00000429979 — 15 exons

Exon	Start	End
ENSE00001921723	46387134	46387252
ENSE00003485033	46368733	46368815
ENSE00003510950	46359486	46359631
ENSE00003545945	46377890	46378005
ENSE00003569144	46368042	46368249
ENSE00003575435	46363115	46363213
ENSE00003656289	46350113	46350351
ENSE00003683756	46356432	46356496
ENSE00003693572	46362538	46362598
ENSE00003714617	46349286	46349347
ENSE00003723940	46344741	46344831
ENSE00003741908	46345447	46345600
ENSE00003745308	46361441	46361573
ENSE00003797624	46371941	46372597
ENSE00003900356	46334681	46343497

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 92.69.

FANTOM5 (CAGE): breadth broad, TPM avg 7.3115 / max 1143.6323, expressed in 739 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137206	3.5719	618
137199	1.1465	135
137205	0.5933	143
137201	0.5193	56
137208	0.3852	90
137212	0.1621	36
137207	0.1468	47
137211	0.1440	31
137204	0.1235	42
137203	0.1171	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
periodontal ligament	UBERON:0008266	92.69	gold quality
blood	UBERON:0000178	92.60	gold quality
spleen	UBERON:0002106	91.35	gold quality
sperm	CL:0000019	91.31	gold quality
vermiform appendix	UBERON:0001154	90.78	gold quality
lymph node	UBERON:0000029	90.25	gold quality
rectum	UBERON:0001052	89.44	gold quality
male germ cell	CL:0000015	88.79	gold quality
epithelium of nasopharynx	UBERON:0001951	88.10	gold quality
mucosa of sigmoid colon	UBERON:0004993	87.98	gold quality
bone marrow	UBERON:0002371	87.04	gold quality
right testis	UBERON:0004534	87.02	gold quality
granulocyte	CL:0000094	87.00	gold quality
left testis	UBERON:0004533	86.81	gold quality
colonic mucosa	UBERON:0000317	86.80	gold quality
mucosa of transverse colon	UBERON:0004991	86.07	gold quality
caecum	UBERON:0001153	85.74	gold quality
testis	UBERON:0000473	84.78	gold quality
tendon of biceps brachii	UBERON:0008188	84.23	gold quality
colonic epithelium	UBERON:0000397	83.98	gold quality
superficial temporal artery	UBERON:0001614	83.81	gold quality
bone marrow cell	CL:0002092	83.73	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.65	gold quality
leukocyte	CL:0000738	83.60	gold quality
monocyte	CL:0000576	83.18	gold quality
mononuclear cell	CL:0000842	83.16	gold quality
ileal mucosa	UBERON:0000331	83.04	gold quality
tonsil	UBERON:0002372	82.41	gold quality
transverse colon	UBERON:0001157	81.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	1463.77
E-HCAD-4	yes	124.06
E-CURD-112	yes	39.35
E-ANND-3	yes	23.73
E-MTAB-9467	yes	23.23
E-MTAB-8498	yes	13.62
E-CURD-122	yes	11.93
E-MTAB-6678	yes	7.12
E-MTAB-9801	yes	5.91
E-MTAB-7303	no	78.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting RUBCNL, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-3158-5P	99.65	67.51	1763

Literature-anchored findings (GeneRIF, showing 8)

• Methylation of C13orf18 in cervical scrapings is strongly associated with high-grade cervical intraepithelial neoplasia and cervical cancer. (PMID:19843677)
• Data suggest that the four-gene methylation panel might provide an alternative triage test after primary high-risk papillomavirus (hr-HPV) testing. (PMID:21796628)
• Re-activation of C13ORF18 led to partial demethylation of the C13ORF18 promoter and decreased repressive histone methylation. (PMID:23522960)
• MethyLight data demonstrated that C13orf18 and C1orf166 could not be considered as specific, sensitive and suitable prognostic biomarkers in cervical dysplasia related Papillomavirus Infections. (PMID:25169519)
• Pacer localizes to autophagic structures and positively regulates autophagosome maturation. (PMID:28306502)
• mTORC1 and GSK3-TIP60 signaling converge to modulate autophagosome maturation and lipid metabolism through Pacer. (PMID:30704899)
• MYC-activated CERS6-AS1 sponges miR-6838-5p and regulates the expression of RUBCNL in colorectal cancer. (PMID:37130182)
• Tumor-derived lactate promotes resistance to bevacizumab treatment by facilitating autophagy enhancer protein RUBCNL expression through histone H3 lysine 18 lactylation (H3K18la) in colorectal cancer. (PMID:37615625)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rubcnl	ENSDARG00000088402
mus_musculus	Rubcnl	ENSMUSG00000034959
rattus_norvegicus	Rubcnl	ENSRNOG00000022760
drosophila_melanogaster	Plekhm1	FBGN0034694
caenorhabditis_elegans		WBGENE00013093

Paralogs (4): DEF8 (ENSG00000140995), RUBCN (ENSG00000145016), PLEKHM3 (ENSG00000178385), PLEKHM1 (ENSG00000225190)

Protein

Protein identifiers

Protein associated with UVRAG as autophagy enhancer — Q9H714 (reviewed: Q9H714)

Alternative names: Protein Rubicon-like

All UniProt accessions (10): Q9H714, A0A0A0MRV7, A0A6Q8PF39, A0A6Q8PFX0, A0A6Q8PGJ9, A0A6Q8PH05, A8XR14, B7ZBN5, E7EMA2, Q5W050

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy. Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex. Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes. Binds phosphoinositides phosphatidylinositol 3-phosphate (PtdIns(3)P), 4-phosphate (PtdIns(4)P) and 5-phosphate (PtdIns(5)P). In addition to its role in autophagy, acts as a regulator of lipid and glycogen homeostasis. May act as a tumor suppressor.

Subunit / interactions. Interacts with UVRAG; the interaction is direct and promotes association with the PI3K/PI3KC3 and HOPS complexes. Interacts with STX17.

Subcellular location. Cytoplasmic vesicle. Autophagosome membrane.

Tissue specificity. Expressed weakly in cervical carcinoma cell lines.

Post-translational modifications. Phosphorylated by MTOR at Ser-157 under nutrient-rich conditions. Phosphorylation prevents acetylation by KAT5/TIP60 and impairs RUBCNL/PACER function and autophagosome maturation. Under autophagy induction, Phosphorylation by MTOR is repressed, enabling acetylation by KAT5/TIP60. Acetylated by KAT5/TIP60 under autophagy induction, promoting autophagosome maturation and lipid metabolism. Acetylation is prevented by phosphorylation by MTOR. Lys-483 and Lys-573 constitute the key sites for tuning function in autophagy.

Induction. Up-regulated by epigenetic drugs, such as azacitidine, and artificial transcription factors (ATFs)-induced treatments in cervical carcinoma cell lines.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9H714-5	1	yes
Q9H714-4	5
Q9H714-3	2
Q9H714-1	3
Q9H714-2	4
Q9H714-6	6

RefSeq proteins (8): NP_001273690, NP_001273691, NP_001273692, NP_001273693, NP_001273694, NP_001273695, NP_001336701, NP_079389* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025258	RH_dom	Domain
IPR048569	RUBC_PIKBD	Domain
IPR052428	Autophagy_HostDef_Reg	Family

Pfam: PF13901, PF21054

UniProt features (32 total): mutagenesis site 8, splice variant 7, modified residue 6, region of interest 3, sequence conflict 3, compositionally biased region 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H714-F1	61.66	0.34

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 (6): 533, 573, 633, 157, 483, 523

Mutagenesis-validated functional residues (8):

Position	Phenotype
157	abolished phosphorylation by mtor, leading to promote interaction with stx17 and autophagosome maturation.
157	phosphomimetic mutant; impaired interaction with stx17 and abolished ability to promote autophagosome maturation.
204–208	abolishes interaction with uvrag.
483	abolished acetylation by kat5/tip60 and abolished ability to promote autophagosome maturation; when associated with r-52
523	abolished acetylation by kat5/tip60 and abolished ability to promote autophagosome maturation; when associated with r-48
533	abolished acetylation by kat5/tip60 and abolished ability to promote autophagosome maturation; when associated with r-48
573	abolished acetylation by kat5/tip60 and abolished ability to promote autophagosome maturation; when associated with r-48
633	abolished acetylation by kat5/tip60 and abolished ability to promote autophagosome maturation; when associated with r-48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 206 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOCC_VACUOLAR_MEMBRANE, PEREZ_TP63_TARGETS, GOBP_VESICLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MACROAUTOPHAGY, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_ORGANELLE_MEMBRANE_FUSION, MODULE_301, GOBP_CARBOHYDRATE_METABOLIC_PROCESS

GO Biological Process (7): lipid metabolic process (GO:0006629), regulation of lipid metabolic process (GO:0019216), autophagosome-lysosome fusion (GO:0061909), autophagosome-endosome fusion (GO:0061910), regulation of glycogen metabolic process (GO:0070873), autophagosome maturation (GO:0097352), autophagy (GO:0006914)

GO Molecular Function (6): phosphatidylinositol-5-phosphate binding (GO:0010314), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-4-phosphate binding (GO:0070273), phosphatidylinositol phosphate binding (GO:1901981), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (3): autophagosome membrane (GO:0000421), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macroautophagy	3
phosphatidylinositol phosphate binding	3
vesicle fusion	2
anion binding	2
binding	2
primary metabolic process	1
lipid metabolic process	1
regulation of primary metabolic process	1
glycogen metabolic process	1
regulation of polysaccharide metabolic process	1
regulation of generation of precursor metabolites and energy	1
protein-containing complex disassembly	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
phospholipid binding	1
vacuolar membrane	1
autophagosome	1
cytoplasm	1
intracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

930 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RUBCNL	STX17	P56962	755
RUBCNL	EPB41L3	Q9Y2J2	645
RUBCNL	JAM3	Q9BX67	603
RUBCNL	TAFA4	Q96LR4	582
RUBCNL	BECN1	Q14457	529
RUBCNL	PIK3R4	Q99570	518
RUBCNL	PIK3C3	Q8NEB9	485
RUBCNL	ZNF582	Q96NG8	479
RUBCNL	PAX1	P15863	447
RUBCNL	ZSCAN1	Q8NBB4	445
RUBCNL	LHX8	Q68G74	417
RUBCNL	SOX1	O00570	400
RUBCNL	ARRDC2	Q8TBH0	396
RUBCNL	BTBD17	A6NE02	396
RUBCNL	ZNF671	Q8TAW3	392

IntAct

8 interactions, top by confidence:

A	B	Type	Score
UVRAG	BECN1	psi-mi:“MI:0914”(association)	0.970
BECN1	ZWINT	psi-mi:“MI:0914”(association)	0.750
BECN1	F7	psi-mi:“MI:0914”(association)	0.350
UVRAG	TUBAL3	psi-mi:“MI:0914”(association)	0.350
BECN1		psi-mi:“MI:0914”(association)	0.350
UVRAG	DFFA	psi-mi:“MI:0914”(association)	0.350
RUBCNL	GRK6	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): KIAA0226L (Two-hybrid), KIAA0226L (Two-hybrid), UVRAG (Affinity Capture-MS), PIK3C3 (Affinity Capture-MS), BECN1 (Affinity Capture-MS), GRK6 (Affinity Capture-MS), PIK3R4 (Affinity Capture-MS), RUFY1 (Affinity Capture-MS), SEC24A (Affinity Capture-MS), SEC23B (Affinity Capture-MS), GRK6 (Affinity Capture-MS), UVRAG (Affinity Capture-MS), COL4A3BP (Affinity Capture-MS), BECN1 (Affinity Capture-MS), PIK3R4 (Affinity Capture-MS)

ESM2 similar proteins: A5WW08, D4A039, D4A7V9, E1C213, E2RK09, E7F6T8, F1N5V1, O42354, O94988, O96028, P23804, P56950, Q08D35, Q0IIM1, Q3UWM4, Q5F479, Q5FWP4, Q5RF77, Q5RGA4, Q64127, Q66J69, Q6NVF4, Q6P1H6, Q6P256, Q6ZMT4, Q6ZQM0, Q7TP65, Q7YRZ8, Q7ZVU1, Q7ZWM8, Q810L3, Q86T82, Q86XL3, Q8BU04, Q8BVE8, Q8C008, Q8C0R0, Q8CIN9, Q8IYW5, Q8IZM8

Diamond homologs: A5PJM7, A7E316, O01738, Q08AW4, Q22744, Q3TD16, Q4V8I4, Q5PQS0, Q6DDJ3, Q6DJB3, Q6ZN54, Q6ZWE6, Q7T0P6, Q7TSI1, Q80U62, Q8BM47, Q92622, Q99J78, Q9H714, Q9VTT9, Q9Y4G2, Q08DX0, Q8BIJ7, Q8IWE5, Q8TEQ0, Q96T51, Q9D3S3, P34125, P09215, P28867, Q05655, Q5PU49, Q9Z1S3, Q5R4V2, Q5R5R4, Q7L099, Q8WXA3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RUBCNL	“up-regulates activity”	STX17	binding
RUBCNL	“up-regulates activity”	“HOPS tethering complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	5
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	Likely pathogenic

SpliceAI

2578 predictions. Top by Δscore:

Variant	Effect	Δscore
13:46343494:CACG:C	acceptor_gain	1.0000
13:46343496:CG:C	acceptor_gain	1.0000
13:46343498:C:CC	acceptor_gain	1.0000
13:46344736:AATAC:A	donor_loss	1.0000
13:46344737:ATACC:A	donor_loss	1.0000
13:46344738:TA:T	donor_loss	1.0000
13:46344739:AC:A	donor_loss	1.0000
13:46344740:C:CG	donor_loss	1.0000
13:46344742:TGA:T	donor_gain	1.0000
13:46344827:CACAG:C	acceptor_gain	1.0000
13:46344828:ACAG:A	acceptor_gain	1.0000
13:46344829:CAG:C	acceptor_gain	1.0000
13:46344829:CAGC:C	acceptor_gain	1.0000
13:46344830:AG:A	acceptor_gain	1.0000
13:46344830:AGC:A	acceptor_loss	1.0000
13:46344831:GC:G	acceptor_loss	1.0000
13:46344832:C:CA	acceptor_loss	1.0000
13:46344832:C:CC	acceptor_gain	1.0000
13:46344833:T:C	acceptor_loss	1.0000
13:46345487:T:TA	donor_gain	1.0000
13:46345599:CA:C	acceptor_gain	1.0000
13:46345601:C:CC	acceptor_gain	1.0000
13:46345605:C:CT	acceptor_gain	1.0000
13:46356431:CTAGG:C	donor_gain	1.0000
13:46359480:ACTT:A	donor_loss	1.0000
13:46359481:CT:C	donor_loss	1.0000
13:46359482:TT:T	donor_loss	1.0000
13:46359483:TA:T	donor_loss	1.0000
13:46359484:A:AC	donor_gain	1.0000
13:46359484:A:C	donor_loss	1.0000

AlphaMissense

4377 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:46344811:A:C	F602L	0.998
13:46344811:A:T	F602L	0.998
13:46344813:A:G	F602L	0.998
13:46344807:A:G	C604R	0.996
13:46344775:G:C	F614L	0.995
13:46344775:G:T	F614L	0.995
13:46344777:A:G	F614L	0.995
13:46344806:C:T	C604Y	0.995
13:46350221:G:C	S487R	0.995
13:46350221:G:T	S487R	0.995
13:46350223:T:G	S487R	0.995
13:46344769:A:C	F616L	0.994
13:46344769:A:T	F616L	0.994
13:46344771:A:G	F616L	0.994
13:46344805:A:C	C604W	0.994
13:46344828:A:G	C597R	0.994
13:46350225:A:T	V486D	0.994
13:46350304:A:G	C460R	0.994
13:46350326:G:C	C452W	0.994
13:46356460:A:C	C434W	0.994
13:46356462:A:G	C434R	0.994
13:46343481:A:C	F631L	0.993
13:46343481:A:T	F631L	0.993
13:46343483:A:G	F631L	0.993
13:46344806:C:A	C604F	0.993
13:46344806:C:G	C604S	0.993
13:46344807:A:T	C604S	0.993
13:46345452:A:G	C594R	0.993
13:46350327:C:T	C452Y	0.993
13:46350328:A:G	C452R	0.993

dbSNP variants (sampled 300 via entrez): RS1000060757 (13:46369859 A>C,G), RS1000182616 (13:46387381 C>T), RS1000191484 (13:46346002 C>G), RS1000244009 (13:46345644 C>A,G,T), RS1000265426 (13:46386856 C>A), RS1000363237 (13:46381307 C>T), RS1000389432 (13:46386597 T>C,G), RS1000424485 (13:46339413 C>T), RS1000507706 (13:46375209 C>T), RS1000525607 (13:46347366 C>T), RS1000572548 (13:46388699 G>C), RS1000669152 (13:46381365 G>A), RS1000698398 (13:46345297 A>C,G,T), RS1000699464 (13:46382578 G>T), RS1000812736 (13:46340628 T>A)

Disease associations

OMIM: gene MIM:620175 | 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

1 associations (top):

Study	Trait	p-value
GCST004862_25	Itch intensity from mosquito bite adjusted by bite size	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size 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	4
bisphenol A	increases methylation, affects expression, increases expression	3
Estradiol	increases expression	3
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases 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
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Calcitriol	decreases expression	1
Ethinyl Estradiol	affects expression	1
Mercury	increases expression	1
Silicon Dioxide	affects expression	1
Silver	increases expression	1
Zearalenone	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D5AH	HeLa S3 RUBCNL KO clone 17	Cancer cell line	Female
CVCL_D5AL	HeLa S3 RUBCNL KO/HA-PRKN/HaloTag7-mGFP	Cancer cell line	Female
CVCL_D5AM	HeLa S3 RUBCNL KO/HaloTag7-LC3	Cancer cell line	Female

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