RAB11FIP4

Summary

RAB11FIP4 (RAB11 family interacting protein 4, HGNC:30267) is a protein-coding gene on chromosome 17q11.2, encoding Rab11 family-interacting protein 4 (Q86YS3). Acts as a regulator of endocytic traffic by participating in membrane delivery.

The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma.

Source: NCBI Gene 84440 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 117 total — 2 pathogenic
• MANE Select transcript: NM_032932

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30267
Approved symbol	RAB11FIP4
Name	RAB11 family interacting protein 4
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131
Ensembl gene	ENSG00000131242
Ensembl biotype	protein_coding
OMIM	611999
Entrez	84440

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000394744, ENST00000578148, ENST00000578694, ENST00000579589, ENST00000579908, ENST00000581280, ENST00000581460, ENST00000582009, ENST00000583755, ENST00000585058, ENST00000621161, ENST00000964368

RefSeq mRNA: 5 — MANE Select: NM_032932 NM_001303542, NM_001346747, NM_001346748, NM_001346749, NM_032932

CCDS: CCDS11267, CCDS76985

Canonical transcript exons

ENST00000621161 — 15 exons

Exon	Start	End
ENSE00000898857	31527842	31527923
ENSE00000898858	31528406	31528543
ENSE00000947650	31528620	31528778
ENSE00000947651	31530326	31530469
ENSE00001295051	31521166	31521360
ENSE00003506946	31434034	31434122
ENSE00003543743	31523893	31523996
ENSE00003596161	31525090	31525230
ENSE00003617734	31523512	31523611
ENSE00003656924	31522360	31522395
ENSE00003659038	31517651	31517877
ENSE00003674356	31431813	31431900
ENSE00003677217	31521915	31522049
ENSE00003715270	31531616	31538211
ENSE00003739435	31391675	31392011

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 95.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9598 / max 624.7420, expressed in 1186 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160203	6.4325	1022
160201	4.0870	876
160196	3.1930	358
160204	2.3312	650
160198	0.5076	108
160197	0.2186	84
160202	0.1520	66
160195	0.0378	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	95.67	gold quality
frontal cortex	UBERON:0001870	94.29	gold quality
left testis	UBERON:0004533	94.11	gold quality
right testis	UBERON:0004534	94.06	gold quality
corpus callosum	UBERON:0002336	94.05	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.96	gold quality
putamen	UBERON:0001874	93.71	gold quality
right frontal lobe	UBERON:0002810	93.57	gold quality
neocortex	UBERON:0001950	93.49	gold quality
postcentral gyrus	UBERON:0002581	93.18	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.17	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.13	gold quality
parietal lobe	UBERON:0001872	93.04	gold quality
spinal cord	UBERON:0002240	92.97	gold quality
amygdala	UBERON:0001876	92.90	gold quality
anterior cingulate cortex	UBERON:0009835	92.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.85	gold quality
cerebral cortex	UBERON:0000956	92.83	gold quality
superior frontal gyrus	UBERON:0002661	92.52	gold quality
Ammon’s horn	UBERON:0001954	92.45	gold quality
cortical plate	UBERON:0005343	92.45	gold quality
substantia nigra	UBERON:0002038	92.26	gold quality
temporal lobe	UBERON:0001871	92.09	gold quality
hypothalamus	UBERON:0001898	91.88	gold quality
nucleus accumbens	UBERON:0001882	91.78	gold quality
midbrain	UBERON:0001891	91.75	gold quality
caudate nucleus	UBERON:0001873	91.60	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.32	gold quality
entorhinal cortex	UBERON:0002728	91.27	gold quality
cerebellar cortex	UBERON:0002129	91.05	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.12
E-MTAB-7303	no	519.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

200 targeting RAB11FIP4, 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-4692	100.00	67.32	2066
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1250-3P	99.96	70.04	4038

Literature-anchored findings (GeneRIF, showing 6)

• Rab11-FIP4 interacts with Rab11 in a GTP-dependent manner and its overexpression condenses the Rab11 positive compartment in HeLa cells. (PMID:12470645)
• Rab11 FIP4 was also discovered through a yeast two-hybrid screen for Arf5 effectors and named Arfophilin-2, as described here. Rab11 FIP4/Arfophilin-2 was shown to localize to a perinuclear compartment, the centrosome, and focal adhesions in HeLa cells. Rab11 FIP4/Arfophilin-2 over-expression was shown to cluster the Rab11-positive endosomal recycling compartment around the centrosome. (PMID:12857874)
• FIP3 and FIP4 serve to couple Rab11-positive vesicle traffic from recycling endosomes to the cleavage furrow/midbody where they are tethered prior to fusion events via interactions with Arf6 and the Exocyst. (PMID:16148947)
• Results show the expression of Rab11-FIP4 upregulated in hepatocellular carcinoma (HCC) and correlated with poor prognosis. Rab11-FIP4 dramatically contributed to HCC metastasis via phosphorylation of PRAS40. (PMID:25745995)
• Our findings suggest that overexpression of Rab11-FIP4 predicts poor clinical outcomes for pancreatic cancer and contributes to pancreatic tumor progression. (PMID:28035375)
• Rab11-FIP4 expression promotes migration and invasion of colon cancer cells and correlates with poor prognosis. (PMID:29257314)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab11fip4a	ENSDARG00000090170
danio_rerio	rab11fip4b	ENSDARG00000103207
mus_musculus	Rab11fip4	ENSMUSG00000017639
rattus_norvegicus	Rab11fip4	ENSRNOG00000014135
drosophila_melanogaster	nuf	FBGN0013718
caenorhabditis_elegans		WBGENE00018869

Paralogs (1): RAB11FIP3 (ENSG00000090565)

Protein

Protein identifiers

Rab11 family-interacting protein 4 — Q86YS3 (reviewed: Q86YS3)

Alternative names: Arfophilin-2

All UniProt accessions (5): J3QKR9, J3QLM3, K7EL58, K7EMK3, Q86YS3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abscission step in cytokinesis, possibly by acting as an ‘address tag’ delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6.

Subunit / interactions. Homodimer. Forms a complex with Rab11 (RAB11A or RAB11B) and ARF6. Interacts with RAB11A; the interaction is direct. Forms a heterooligomeric complex with RAB11FIP2, RAB11FIP3 and RAB11FIP5. Interacts with ECPAS. (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein gM/UL100.

Subcellular location. Endosome. Cytoplasm. Cytoskeleton. Spindle. Microtubule organizing center. Centrosome. Recycling endosome membrane. Cleavage furrow. Midbody. Cytoplasmic vesicle.

Tissue specificity. Present at high level in testis (at protein level). Weakly expressed in other tissues.

Domain organisation. The RBD-FIP domain mediates the interaction with Rab11 (RAB11A or RAB11B).

Isoforms (2)

UniProt ID	Names	Canonical?
Q86YS3-1	1	yes
Q86YS3-2	2

RefSeq proteins (5): NP_001290471, NP_001333676, NP_001333677, NP_001333678, NP_116321* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR019018	Rab-bd_FIP-RBD	Domain
IPR037245	FIP-RBD_C_sf	Homologous_superfamily
IPR051977	Rab11-interacting_regulator	Family
IPR057316	Rab11-FIP3/4_dom	Domain

Pfam: PF09457, PF25450

UniProt features (16 total): binding site 4, region of interest 3, domain 2, splice variant 2, sequence conflict 2, chain 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86YS3-F1	72.35	0.37

Functional residue map

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

Ligand- & substrate-binding residues (4): 73; 62; 64; 68

Mutagenesis-validated functional residues (1):

Position	Phenotype
627	abolishes rab11-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): PEREZ_TP63_TARGETS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEURAL_RETINA_DEVELOPMENT, GOMF_GTPASE_BINDING, chr17q11, GOCC_MICROTUBULE_ORGANIZING_CENTER, GTGCCTT_MIR506, GOBP_CYTOKINESIS, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, PEREZ_TP53_AND_TP63_TARGETS

GO Biological Process (4): neural retina development (GO:0003407), endocytic recycling (GO:0032456), regulation of cytokinesis (GO:0032465), positive regulation of G1 to G0 transition (GO:1903452)

GO Molecular Function (5): calcium ion binding (GO:0005509), small GTPase binding (GO:0031267), protein homodimerization activity (GO:0042803), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (17): obsolete extracellular space (GO:0005615), endosome (GO:0005768), Golgi apparatus (GO:0005794), centrosome (GO:0005813), spindle (GO:0005819), endocytic vesicle (GO:0030139), midbody (GO:0030496), cleavage furrow (GO:0032154), perinuclear region of cytoplasm (GO:0048471), recycling endosome membrane (GO:0055038), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cytoplasm	3
endomembrane system	2
cytoplasmic vesicle	2
intracellular membraneless organelle	2
sperm flagellum	2
anatomical structure development	1
retina development in camera-type eye	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
G1 to G0 transition	1
positive regulation of cell cycle process	1
regulation of G1 to G0 transition	1
metal ion binding	1
GTPase binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
cell division site	1
plasma membrane region	1
endosome membrane	1
recycling endosome	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB11FIP4	RAB11A	P24410	955
RAB11FIP4	RAB11FIP2	Q7L804	953
RAB11FIP4	RAB11FIP1	Q6WKZ4	932
RAB11FIP4	RAB11FIP5	Q9BXF6	880
RAB11FIP4	RAB25	P57735	833
RAB11FIP4	ARF6	P26438	811
RAB11FIP4	MYO1D	O94832	798
RAB11FIP4	EXOC7	Q9UPT5	774
RAB11FIP4	ARF5	P26437	767
RAB11FIP4	TEFM	Q96QE5	691
RAB11FIP4	COPRS	Q9NQ92	674
RAB11FIP4	UNC119	Q13432	666
RAB11FIP4	LRRC37B	Q96QE4	664
RAB11FIP4	UTP6	Q9NYH9	646
RAB11FIP4	ADAP2	Q9NPF8	632

IntAct

19 interactions, top by confidence:

A	B	Type	Score
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
RAB11FIP4	MAD2L2	psi-mi:“MI:0915”(physical association)	0.560
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
RAB11FIP4	RACGAP1	psi-mi:“MI:0407”(direct interaction)	0.440
RAB11FIP4	Arf6	psi-mi:“MI:0915”(physical association)	0.400
RAB11FIP4	RAB11FIP3	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
FGF4	AGRN	psi-mi:“MI:0914”(association)	0.350
ELFN2	TBC1D4	psi-mi:“MI:0914”(association)	0.350
MAD2L2	RAB11FIP4	psi-mi:“MI:0915”(physical association)	0.000
PKNOX1	RAB11FIP4	psi-mi:“MI:0915”(physical association)	0.000
GFI1B	RAB11FIP4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): RAB11FIP3 (Affinity Capture-MS), TNIP2 (Affinity Capture-MS), SPECC1 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), S100A3 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), RAB11FIP4 (Affinity Capture-RNA), RAB11FIP4 (Two-hybrid), RAB11A (Far Western), RAB11FIP4 (Two-hybrid), RAB11FIP3 (Two-hybrid), RAB11FIP2 (Two-hybrid), RAB11FIP5 (Two-hybrid)

ESM2 similar proteins: A0A7P0TBJ1, A0A804C8T0, A2BE76, A2RRV3, A4IG66, A4IIE8, D4A4K3, O75182, P57095, P97578, Q02225, Q08AY9, Q09YG9, Q09YK4, Q1JPG0, Q28C41, Q2IBF8, Q2QL82, Q2QLF8, Q2QLG9, Q4QQM5, Q503U3, Q5BLE2, Q5M836, Q5XJS0, Q62141, Q62671, Q68EF0, Q6DFB7, Q6GR21, Q6NRB7, Q6P7D5, Q6PCG6, Q7L4E1, Q86YS3, Q8BG30, Q8BHS8, Q8BK03, Q8BQP8, Q8NAN2

Diamond homologs: A4IIE8, B3DGU2, O75154, Q3LGD4, Q7T005, Q86YS3, Q8BQP8, Q8CHD8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	89
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	Pathogenic
523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	Pathogenic

SpliceAI

2660 predictions. Top by Δscore:

Variant	Effect	Δscore
17:31392008:GGAG:G	donor_gain	1.0000
17:31392009:GAGG:G	donor_gain	1.0000
17:31392009:GAGGT:G	donor_loss	1.0000
17:31392010:AGG:A	donor_loss	1.0000
17:31392012:G:GA	donor_loss	1.0000
17:31431803:A:AG	acceptor_gain	1.0000
17:31431807:CCACA:C	acceptor_loss	1.0000
17:31431808:CACAG:C	acceptor_loss	1.0000
17:31431810:CA:C	acceptor_loss	1.0000
17:31431811:A:AC	acceptor_loss	1.0000
17:31431811:A:AG	acceptor_gain	1.0000
17:31431811:AG:A	acceptor_gain	1.0000
17:31431811:AGGT:A	acceptor_gain	1.0000
17:31431811:AGGTG:A	acceptor_gain	1.0000
17:31431812:G:GG	acceptor_gain	1.0000
17:31431812:GG:G	acceptor_gain	1.0000
17:31431812:GGT:G	acceptor_gain	1.0000
17:31431812:GGTG:G	acceptor_gain	1.0000
17:31431812:GGTGG:G	acceptor_gain	1.0000
17:31431901:G:GC	donor_loss	1.0000
17:31431902:T:A	donor_loss	1.0000
17:31434023:T:TA	acceptor_gain	1.0000
17:31434029:C:CA	acceptor_gain	1.0000
17:31434032:A:AG	acceptor_gain	1.0000
17:31434032:AG:A	acceptor_gain	1.0000
17:31434032:AGG:A	acceptor_gain	1.0000
17:31434033:G:GG	acceptor_gain	1.0000
17:31434033:GG:G	acceptor_gain	1.0000
17:31434033:GGG:G	acceptor_gain	1.0000
17:31434033:GGGT:G	acceptor_gain	1.0000

AlphaMissense

4222 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:31531659:T:C	L614P	1.000
17:31531692:T:A	I625N	1.000
17:31531695:T:C	L626P	1.000
17:31531716:T:A	L633H	1.000
17:31531716:T:C	L633P	1.000
17:31431874:T:C	F74S	0.999
17:31523903:T:C	L347P	0.999
17:31523924:T:C	L354P	0.999
17:31523966:T:C	L368P	0.999
17:31523987:T:C	L375P	0.999
17:31525101:T:C	L382P	0.999
17:31528636:G:C	R504P	0.999
17:31528645:T:C	L507P	0.999
17:31528771:T:C	L549P	0.999
17:31530339:T:C	L556P	0.999
17:31531617:T:C	L600P	0.999
17:31531625:G:C	A603P	0.999
17:31531629:T:C	L604P	0.999
17:31531683:T:A	I622N	0.999
17:31531686:T:C	L623P	0.999
17:31531688:G:C	A624P	0.999
17:31531692:T:C	I625T	0.999
17:31531695:T:A	L626Q	0.999
17:31531715:C:T	L633F	0.999
17:31531716:T:G	L633R	0.999
17:31431865:T:C	F71S	0.998
17:31431873:T:C	F74L	0.998
17:31431875:T:A	F74L	0.998
17:31431875:T:G	F74L	0.998
17:31521248:T:C	F216L	0.998

dbSNP variants (sampled 300 via entrez): RS1000006490 (17:31424413 A>C), RS1000017331 (17:31463228 C>A), RS1000077843 (17:31463774 G>A), RS1000093376 (17:31504117 T>C), RS1000105414 (17:31418002 G>A), RS1000135430 (17:31439960 T>C), RS1000167076 (17:31430104 G>A), RS1000191021 (17:31438564 A>G), RS1000192548 (17:31391387 G>A), RS1000195720 (17:31425323 C>T), RS1000199383 (17:31518422 A>T), RS1000209465 (17:31510483 G>A), RS1000229946 (17:31431616 C>T), RS1000256961 (17:31431370 C>G,T), RS1000270651 (17:31430518 C>T)

Disease associations

OMIM: gene MIM:611999 | disease phenotypes: MIM:114030

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), cafe au lait spots, multiple (MONDO:0007245)

Orphanet (2): Familial prostate cancer (Orphanet:1331), Familial isolated café-au-lait macules (Orphanet:2678)

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST006288_286	Heel bone mineral density	4.000000e-10
GCST006288_53	Heel bone mineral density	7.000000e-09
GCST006979_813	Heel bone mineral density	1.000000e-16
GCST007324_157	Adventurousness	2.000000e-12
GCST007823_1	Facial attractiveness (male raters)	2.000000e-07
GCST010241_385	Apolipoprotein A1 levels	6.000000e-10
GCST010703_342	Brain morphology (MOSTest)	4.000000e-10
GCST011365_152	Myocardial infarction	6.000000e-06
GCST012227_339	Hip circumference adjusted for BMI	8.000000e-12
GCST90013442_29	Keratoconus	3.000000e-10
GCST90020028_1370	Hip circumference adjusted for BMI	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0008579	risk-taking behaviour
EFO:0009892	facial attractiveness measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (2)

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
C537421	Cafe au lait spots, multiple (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, increases expression, affects expression	8
Benzo(a)pyrene	affects methylation, decreases expression	7
trichostatin A	affects cotreatment, increases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, affects cotreatment, decreases methylation	2
entinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
GSK-J4	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
pentanal	increases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic 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
perfluorohexanesulfonic acid	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases 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