RASAL2

Summary

RASAL2 (RAS protein activator like 2, HGNC:9874) is a protein-coding gene on chromosome 1q25.2, encoding Ras GTPase-activating protein nGAP (Q9UJF2). Inhibitory regulator of the Ras-cyclic AMP pathway.

This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.

Source: NCBI Gene 9462 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 195 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_170692

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9874
Approved symbol	RASAL2
Name	RAS protein activator like 2
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	nGAP
Ensembl gene	ENSG00000075391
Ensembl biotype	protein_coding
OMIM	606136
Entrez	9462

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000367649, ENST00000433130, ENST00000462775, ENST00000463079, ENST00000465723, ENST00000696605, ENST00000696606, ENST00000696607, ENST00000902905

RefSeq mRNA: 2 — MANE Select: NM_170692 NM_004841, NM_170692

CCDS: CCDS1321, CCDS1322

Canonical transcript exons

ENST00000367649 — 18 exons

Exon	Start	End
ENSE00000450466	178420511	178420620
ENSE00000790041	178439422	178439575
ENSE00000790042	178441549	178441647
ENSE00000790043	178442675	178443229
ENSE00000790044	178445518	178445662
ENSE00000790046	178452416	178452652
ENSE00001008061	178390100	178390206
ENSE00001327610	178299992	178300118
ENSE00001716187	178451571	178451715
ENSE00001828767	178473075	178478850
ENSE00001923220	178456721	178456899
ENSE00001924890	178094104	178094694
ENSE00002345675	178465920	178466122
ENSE00002371646	178454447	178454648
ENSE00002404625	178467334	178467421
ENSE00002412456	178464278	178464412
ENSE00002428183	178457683	178458544
ENSE00003686726	178283564	178283691

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 97.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2921 / max 174.2108, expressed in 1619 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6864	5.0094	1380
6862	2.4232	1315
6873	0.3561	184
6863	0.3361	163
6861	0.2810	134
6865	0.2750	122
6867	0.2252	91
6866	0.2015	77
6874	0.1845	77

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.06	gold quality
amniotic fluid	UBERON:0000173	93.97	gold quality
heart right ventricle	UBERON:0002080	91.18	gold quality
oral cavity	UBERON:0000167	91.15	gold quality
middle temporal gyrus	UBERON:0002771	90.53	gold quality
saphenous vein	UBERON:0007318	90.42	gold quality
sural nerve	UBERON:0015488	89.45	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.33	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.97	gold quality
lower esophagus mucosa	UBERON:0035834	88.88	gold quality
tendon of biceps brachii	UBERON:0008188	88.55	gold quality
visceral pleura	UBERON:0002401	88.10	gold quality
popliteal artery	UBERON:0002250	87.81	gold quality
tibial artery	UBERON:0007610	87.80	gold quality
bronchial epithelial cell	CL:0002328	87.65	gold quality
skin of hip	UBERON:0001554	87.55	gold quality
lower lobe of lung	UBERON:0008949	87.44	gold quality
adrenal tissue	UBERON:0018303	87.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.97	gold quality
esophagus squamous epithelium	UBERON:0006920	86.96	gold quality
lateral nuclear group of thalamus	UBERON:0002736	86.81	gold quality
gingiva	UBERON:0001828	86.75	gold quality
pharyngeal mucosa	UBERON:0000355	86.68	gold quality
left coronary artery	UBERON:0001626	86.68	gold quality
nipple	UBERON:0002030	86.66	gold quality
trigeminal ganglion	UBERON:0001675	86.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.62	gold quality
placenta	UBERON:0001987	86.56	gold quality
entorhinal cortex	UBERON:0002728	86.47	gold quality
coronary artery	UBERON:0001621	86.41	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	37.58
E-GEOD-135922	yes	32.92
E-ANND-3	yes	14.86
E-ANND-2	no	971.91
E-CURD-10	no	496.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

250 targeting RASAL2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 24)

• RASAL2 was identified as an ECT2-interacting protein that regulates RHO activity in astrocytoma cells. (PMID:22683310)
• The RasGAP gene, RASAL2, is a tumor and metastasis suppressor. (PMID:24029233)
• High RASAL2 expression is associated with liver cancer. (PMID:24763612)
• Results implicate RASAL2 as an EMT regulator and tumor suppressor in ovarian cancer, and down-regulation of RASAL2 promotes ovarian cancer progression. (PMID:25216515)
• these results indicate that activation of a RASAL2/ARHGAP24/RAC1 module contributes to TNBC tumorigenesis and identify a context-dependent role of RASAL2 in breast cancer. (PMID:25384218)
• the down-regulation of RASAL2 promotes metastatic progression of lung adenocarcinoma (PMID:25446096)
• these results demonstrated that miRNA-136 was a key anti-invasive miRNA and further confirmed the oncogenic role of RASAL2 in triple-negative breast cancer. (PMID:27108696)
• Study shows that up to 62% of luminal B cancers have lost expression of at least one of the DAB2IP and RASAL2 genes. However, the tumors that have lost both genes frequently present as advanced disease and are more likely to recur. Importantly, the report provide evidence that DAB2IP and RASAL2 can individually function as tumor suppressors in breast cancer. (PMID:27974415)
• RASAL2 could inhibit BCa tumorigenesis. (PMID:28182001)
• Furthermore, overexpression of miR-203 exhibited a similar effect to RASAL2 knockdown in hepatocellular carcinoma (HCC) cells. These results indicated that RASAL2 serves a tumor oncogenic role in HCC and may be considered a potential target in HCC. (PMID:28447723)
• The authors discovered that RASAL2, a RAS GTPase activating protein, could inhibit bladder cancer angiogenesis based on shRNA/siRNA knockdown or ectopic cDNA expression experiments. (PMID:29702203)
• Study identified copy number gains and upregulation of RASAL2 in metastatic colorectal cancer (CRC). Upregulation of RASAL2 protein expression was associated with poor prognosis and metastasis. Functional studies revealed that RASAL2 promoted tumor progression in CRC cells. Its knockdown promoted YAP1 phosphorylation, cytoplasm retention and ubiquitination, therefore activating LATS2/YAP1 axis of hippo pathway. (PMID:30037330)
• RASAL2 could activate GSK3beta by reducing Ser9 phosphorylation. (PMID:30158581)
• IPO5 is an oncogene involved in CRC cell proliferation and migration. This highlights the significance of IPO5 in 5-fluorouracil-resistant CRC cells. The oncogenic function of IPO5 was mediated by promoting RAS signalling by increasing the nuclear translocation of RASAL2 (PMID:31288861)
• These findings revealed a new mechanism of Rasal2 in the regulation of breast cancer cell proliferation via autophagy-exosome-mediated pathway. (PMID:31473883)
• the phosphorylation of Rasal2 at S237 in PH domain facilitates tumour progression. (PMID:31759919)
• miR6543p suppresses cell viability and promotes apoptosis by targeting RASAL2 in nonsmallcell lung cancer. (PMID:33300072)
• PRKAA/AMPKalpha phosphorylation switches the role of RASAL2 from a suppressor to an activator of autophagy. (PMID:33563064)
• Low Expression of Rasal2 Promotes Non-small Cell Lung Cancer Metastasis through Ras/ERK Pathway. (PMID:34193694)
• Inhibition of Ras protein activator like 2 produces antitumor effects in gastric cancer via the suppression of YAP1 activation. (PMID:34826200)
• RASAL2 mediated the enhancement of YAP1/TIAM1 signaling promotes malignant phenotypes of pancreatic ductal adenocarcinoma. (PMID:35844783)
• Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. (PMID:36790221)
• CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation. (PMID:38159595)
• RAS protein activator-like 2 (RASAL2) initiates peritubular capillary rarefaction in hypoxic renal interstitial fibrosis. (PMID:38453052)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	rasal2	ENSDARG00000036257
mus_musculus	Rasal2	ENSMUSG00000070565
rattus_norvegicus	Rasal2	ENSRNOG00000004917
drosophila_melanogaster	RasGAP1	FBGN0004390
drosophila_melanogaster	raskol	FBGN0261570
caenorhabditis_elegans		WBGENE00001515
caenorhabditis_elegans		WBGENE00001516

Paralogs (10): RASAL3 (ENSG00000105122), RASA4 (ENSG00000105808), RASAL1 (ENSG00000111344), DAB2IP (ENSG00000136848), RASA1 (ENSG00000145715), RASA2 (ENSG00000155903), RASA4B (ENSG00000170667), RASA3 (ENSG00000185989), NF1 (ENSG00000196712), SYNGAP1 (ENSG00000197283)

Protein

Protein identifiers

Ras GTPase-activating protein nGAP — Q9UJF2 (reviewed: Q9UJF2)

Alternative names: RAS protein activator-like 2

All UniProt accessions (5): Q9UJF2, A0A8Q3SIU1, A0A8Q3SIZ5, A0A8Q3SJF6, H0Y638

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitory regulator of the Ras-cyclic AMP pathway.

Subunit / interactions. Interacts with PEAK1.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UJF2-1	1	yes
Q9UJF2-2	2

RefSeq proteins (2): NP_004832, NP_733793* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR001849	PH_domain	Domain
IPR001936	RasGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR021887	DAB2P_C	Domain
IPR023152	RasGAP_CS	Conserved_site
IPR035892	C2_domain_sf	Homologous_superfamily
IPR039360	Ras_GTPase	Family
IPR057606	SynGAP1-like_PH	Domain

Pfam: PF00168, PF00616, PF12004, PF25321

UniProt features (27 total): compositionally biased region 7, region of interest 6, modified residue 5, domain 3, splice variant 2, sequence variant 2, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJF2-F1	66.72	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 369 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (5): 16, 89, 620, 663, 864

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5658442	Regulation of RAS by GAPs
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle

MSigDB gene sets: 265 (showing top): E2F_Q4, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PROTEIN_ACTIVATION_CASCADE, TAATAAT_MIR126, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, GOBP_RESPONSE_TO_DIETARY_EXCESS, AAGCCAT_MIR135A_MIR135B, GOBP_GROWTH, AP2_Q3, ACTGCAG_MIR173P, GGGTGGRR_PAX4_03, CEBP_Q2, CATRRAGC_UNKNOWN, E2F1DP1_01

GO Biological Process (9): response to dietary excess (GO:0002021), signal transduction (GO:0007165), response to glucose (GO:0009749), gene expression (GO:0010467), multicellular organism growth (GO:0035264), adipose tissue development (GO:0060612), regulation of intracellular signal transduction (GO:1902531), regulation of protein activation cascade (GO:2000257), regulation of GTPase activity (GO:0043087)

GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	2
RAF/MAP kinase cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase activity	2
response to nutrient levels	1
energy homeostasis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to hexose	1
macromolecule biosynthetic process	1
multicellular organismal process	1
developmental growth	1
animal organ development	1
connective tissue development	1
regulation of signal transduction	1
intracellular signal transduction	1
protein activation cascade	1
regulation of protein maturation	1
regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RASAL2	SEC16B	Q96JE7	506
RASAL2	RASA3	Q14644	480
RASAL2	RAF1	P04049	462
RASAL2	MAP3K5	Q99683	455
RASAL2	GNPDA2	Q8TDQ7	450
RASAL2	KCTD15	Q96SI1	447
RASAL2	BRAF	P15056	443
RASAL2	PLEK2	Q9NYT0	436
RASAL2	ZCRB1	Q8TBF4	434
RASAL2	PLEK	P08567	425
RASAL2	RASA1	P20936	425
RASAL2	FAIM2	Q9BWQ8	423
RASAL2	DAB2	P98082	411
RASAL2	STAT6	P42226	408
RASAL2	MTDH	Q86UE4	402

IntAct

150 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
YWHAG	RASAL2	psi-mi:“MI:0915”(physical association)	0.870
CSNK1E	PER1	psi-mi:“MI:0914”(association)	0.840
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
SHC1	AP2A1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
MIA2	RASAL2	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	RASAL2	psi-mi:“MI:0915”(physical association)	0.560
RASAL2	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	RASAL2	psi-mi:“MI:0915”(physical association)	0.560
RASAL2	MIA2	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530

BioGRID (208): RASAL2 (Two-hybrid), RASAL2 (Two-hybrid), USHBP1 (Two-hybrid), RASAL2 (Proximity Label-MS), RASAL2 (Proximity Label-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS), RASAL2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9QN10, A1L1G9, A2BGA0, A3KN19, A4QP72, A6H8H2, B0BF33, B0JZV4, E7FDW2, F1QJF4, F7BJB9, O15013, O73630, P19838, P25799, P51448, P59997, P68907, P98150, Q04861, Q08AE8, Q12923, Q1LYM3, Q3U1T9, Q5SWY7, Q5VZ89, Q5XGY0, Q5XK72, Q63369, Q64512, Q66JF7, Q69ZS0, Q6F3J0, Q6PF42, Q6ZUJ8, Q7SYN5, Q7Z3E5, Q7Z401, Q803Q4, Q8C033

Diamond homologs: A6QQ91, F6SEU4, P48423, P97526, Q14644, Q15283, Q28013, Q3UHC7, Q54Y08, Q5VWQ8, Q60790, Q6P730, Q86YV0, Q8C2K5, Q8MLZ5, Q8T498, Q96PV0, Q9QUH6, Q9QYJ2, Q9UJF2, Q9Z268, P58069, Q63713, P33277, P09851, P20936, P21359, P35608, P50904, Q04690, A1ZBD6, A2X479, B8XCH5, C9J798, K8FE10, O43374, O49435, O95294, P27715, P70611

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	68.0×	5e-11
Activation of BAD and translocation to mitochondria	7	67.5×	7e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	59.5×	1e-09
Activation of BH3-only proteins	7	44.0×	1e-08
RHO GTPases activate PKNs	8	32.1×	9e-09
Intrinsic Pathway for Apoptosis	8	29.6×	1e-08
FOXO-mediated transcription	5	21.3×	6e-05
Apoptosis	8	17.0×	8e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	20.0×	1e-04
substantia nigra development	5	16.6×	2e-03
intracellular protein localization	10	9.5×	4e-05
protein phosphorylation	12	7.4×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	169
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

5396 predictions. Top by Δscore:

Variant	Effect	Δscore
1:178094694:GGTAA:G	donor_loss	1.0000
1:178094695:G:GC	donor_loss	1.0000
1:178094696:T:A	donor_loss	1.0000
1:178096536:C:CA	acceptor_gain	1.0000
1:178096544:T:A	acceptor_gain	1.0000
1:178096550:GGAT:G	acceptor_gain	1.0000
1:178096648:GCATG:G	donor_gain	1.0000
1:178096649:CATGG:C	donor_loss	1.0000
1:178096651:TGG:T	donor_loss	1.0000
1:178096653:G:GG	donor_gain	1.0000
1:178096653:GT:G	donor_loss	1.0000
1:178096654:T:A	donor_loss	1.0000
1:178215368:T:TA	acceptor_gain	1.0000
1:178283558:A:AG	acceptor_gain	1.0000
1:178283559:T:G	acceptor_gain	1.0000
1:178283559:T:TA	acceptor_gain	1.0000
1:178283560:GCAG:G	acceptor_loss	1.0000
1:178283561:CA:C	acceptor_loss	1.0000
1:178283562:A:AC	acceptor_loss	1.0000
1:178283562:A:AG	acceptor_gain	1.0000
1:178283562:AGAT:A	acceptor_gain	1.0000
1:178283563:G:GG	acceptor_gain	1.0000
1:178283563:GA:G	acceptor_gain	1.0000
1:178283563:GAT:G	acceptor_gain	1.0000
1:178283563:GATG:G	acceptor_gain	1.0000
1:178283563:GATGT:G	acceptor_gain	1.0000
1:178283637:G:GT	donor_gain	1.0000
1:178283660:GCCA:G	donor_gain	1.0000
1:178283663:A:AG	donor_gain	1.0000
1:178283664:G:GG	donor_gain	1.0000

AlphaMissense

8460 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:178442787:C:A	A199D	1.000
1:178442790:G:C	R200P	1.000
1:178442825:T:A	W212R	1.000
1:178442825:T:C	W212R	1.000
1:178442933:G:A	G248R	1.000
1:178442933:G:C	G248R	1.000
1:178442933:G:T	G248W	1.000
1:178442934:G:A	G248E	1.000
1:178442940:T:A	V250D	1.000
1:178442987:T:A	W266R	1.000
1:178442987:T:C	W266R	1.000
1:178445585:G:T	R369I	1.000
1:178445624:T:C	L382P	1.000
1:178451667:T:C	L427P	1.000
1:178451685:T:C	L433P	1.000
1:178452453:T:A	W456R	1.000
1:178452453:T:C	W456R	1.000
1:178452536:T:G	C483W	1.000
1:178452607:T:C	L507P	1.000
1:178452613:T:C	L509P	1.000
1:178452619:C:A	A511D	1.000
1:178452637:T:C	L517P	1.000
1:178464332:T:A	W962R	1.000
1:178464332:T:C	W962R	1.000
1:178464334:G:C	W962C	1.000
1:178464334:G:T	W962C	1.000
1:178465942:T:C	L996P	1.000
1:178467336:T:C	L1057P	1.000
1:178467357:T:C	L1064P	1.000
1:178473115:T:C	L1099P	1.000

dbSNP variants (sampled 300 via entrez): RS1000002711 (1:178295917 G>A), RS1000019746 (1:178095798 G>C), RS1000021914 (1:178441236 T>C), RS1000034604 (1:178257496 C>T), RS1000037655 (1:178456100 T>G), RS1000047078 (1:178107502 A>G), RS1000051291 (1:178178186 G>A), RS1000053223 (1:178348307 A>G), RS1000057627 (1:178360832 T>C), RS1000079696 (1:178119919 T>C), RS1000082343 (1:178264309 A>G), RS1000091491 (1:178331070 G>A,C), RS1000099143 (1:178394717 A>G), RS1000100212 (1:178170125 T>C), RS1000101567 (1:178257704 T>G)

Disease associations

OMIM: gene MIM:606136 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), autism (MONDO:0005260)

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

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000296_1	Body mass index	6.000000e-08
GCST000299_15	Weight	1.000000e-08
GCST001491_13	Immune response to smallpox vaccine (IL-6)	8.000000e-07
GCST001762_200	Obesity-related traits	5.000000e-06
GCST004139_7	Bipolar disorder	7.000000e-07
GCST005950_7	Body mass index x sex x age interaction (4df test)	7.000000e-16
GCST005951_198	Body mass index	2.000000e-15
GCST005953_1	Body mass index (age <50)	5.000000e-14
GCST90002400_528	Plateletcrit	1.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004338	body weight
EFO:0004645	response to vaccine
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007985	platelet crit

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
Valproic Acid	affects expression, decreases expression, increases expression	5
Cadmium Chloride	decreases expression, increases abundance, increases expression	4
Cisplatin	affects cotreatment, decreases expression, decreases reaction, increases expression	3
methylmercuric chloride	decreases expression, increases expression	2
trichostatin A	affects expression, increases expression	2
Arsenic	affects expression, affects methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
bisphenol A	affects cotreatment, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
manganese chloride	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
tebuconazole	decreases expression	1
cylindrospermopsin	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
asparanin A	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Verteporfin	decreases reaction, increases activity	1
Glyphosate	decreases expression, increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Catechin	affects cotreatment, increases 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_E1M5	HyCyte MDA-MB-231 KO-hRASAL2	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