CFAP65
gene geneOn this page
Also known as DKFZp434O0527MGC35338
Summary
CFAP65 (cilia and flagella associated protein 65, HGNC:25325) is a protein-coding gene on chromosome 2q35, encoding Cilia- and flagella-associated protein 65 (Q6ZU64). Plays a role in flagellar formation and sperm motility.
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility.
Source: NCBI Gene 255101 — RefSeq curated summary.
At a glance
- Gene–disease (curated): non-syndromic male infertility due to sperm motility disorder (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 94 total — 5 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 7
- MANE Select transcript:
NM_194302
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25325 |
| Approved symbol | CFAP65 |
| Name | cilia and flagella associated protein 65 |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434O0527, MGC35338 |
| Ensembl gene | ENSG00000181378 |
| Ensembl biotype | protein_coding |
| OMIM | 614270 |
| Entrez | 255101 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 3 retained_intron
ENST00000295729, ENST00000341552, ENST00000409865, ENST00000410037, ENST00000413871, ENST00000436631, ENST00000453220, ENST00000457968, ENST00000458526, ENST00000462848, ENST00000463683, ENST00000474601
RefSeq mRNA: 4 — MANE Select: NM_194302
NM_001278295, NM_001278296, NM_152389, NM_194302
CCDS: CCDS2430, CCDS2431, CCDS63125, CCDS63126
Canonical transcript exons
ENST00000341552 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001265987 | 219003135 | 219003272 |
| ENSE00001265995 | 219003952 | 219004455 |
| ENSE00001266003 | 219005434 | 219005562 |
| ENSE00001266015 | 219006021 | 219006223 |
| ENSE00001266026 | 219006465 | 219006509 |
| ENSE00001266048 | 219009047 | 219009154 |
| ENSE00001364112 | 219013519 | 219013585 |
| ENSE00001364683 | 219024015 | 219024260 |
| ENSE00001367785 | 219013259 | 219013369 |
| ENSE00001370263 | 219029403 | 219029668 |
| ENSE00001371639 | 219022171 | 219022329 |
| ENSE00001372178 | 219019051 | 219019179 |
| ENSE00001373757 | 219009942 | 219010085 |
| ENSE00001374388 | 219029986 | 219030208 |
| ENSE00001376078 | 219019506 | 219019719 |
| ENSE00001377861 | 219021152 | 219021280 |
| ENSE00001378297 | 219031489 | 219031658 |
| ENSE00001378663 | 219009347 | 219009460 |
| ENSE00001381212 | 219010805 | 219010996 |
| ENSE00001384984 | 219013868 | 219014044 |
| ENSE00001385540 | 219023207 | 219023431 |
| ENSE00001385844 | 219026022 | 219026159 |
| ENSE00001386343 | 219010546 | 219010704 |
| ENSE00001388017 | 219021780 | 219021930 |
| ENSE00001462434 | 219027650 | 219028009 |
| ENSE00001693723 | 219002846 | 219003021 |
| ENSE00001751084 | 219038896 | 219039050 |
| ENSE00003465166 | 219035480 | 219035664 |
| ENSE00003470422 | 219032470 | 219032572 |
| ENSE00003545853 | 219041488 | 219041516 |
| ENSE00003601600 | 219038375 | 219038578 |
| ENSE00003623951 | 219040519 | 219040564 |
| ENSE00003644628 | 219030689 | 219030834 |
| ENSE00003648253 | 219031106 | 219031305 |
| ENSE00003691495 | 219028201 | 219028401 |
Expression profiles
Bgee: expression breadth ubiquitous, 117 present calls, max score 98.11.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2866 / max 30.2227, expressed in 117 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 34013 | 0.2866 | 117 |
Top tissues by expression
231 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.11 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.55 | gold quality |
| right testis | UBERON:0004534 | 82.50 | gold quality |
| left testis | UBERON:0004533 | 82.48 | gold quality |
| testis | UBERON:0000473 | 80.05 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.08 | gold quality |
| fallopian tube | UBERON:0003889 | 74.66 | gold quality |
| right lung | UBERON:0002167 | 73.55 | gold quality |
| pituitary gland | UBERON:0000007 | 73.34 | gold quality |
| adenohypophysis | UBERON:0002196 | 73.05 | gold quality |
| bronchial epithelial cell | CL:0002328 | 72.91 | gold quality |
| bronchus | UBERON:0002185 | 71.45 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 70.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 70.14 | gold quality |
| upper arm skin | UBERON:0004263 | 68.59 | gold quality |
| left uterine tube | UBERON:0001303 | 68.04 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 68.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 66.09 | silver quality |
| oviduct epithelium | UBERON:0004804 | 66.09 | gold quality |
| caudate nucleus | UBERON:0001873 | 65.99 | gold quality |
| hypothalamus | UBERON:0001898 | 65.78 | gold quality |
| kidney epithelium | UBERON:0004819 | 65.56 | gold quality |
| cartilage tissue | UBERON:0002418 | 64.45 | gold quality |
| prefrontal cortex | UBERON:0000451 | 63.89 | gold quality |
| nucleus accumbens | UBERON:0001882 | 63.67 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 61.56 | gold quality |
| biceps brachii | UBERON:0001507 | 61.09 | gold quality |
| forebrain | UBERON:0001890 | 61.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 60.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.99 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- CFAP65 mutations may cause spermatozoa to be completely immotile. (PMID:31413122)
- Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. (PMID:31501240)
- Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery. (PMID:35201641)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cfap65 | ENSDARG00000006863 |
| mus_musculus | Cfap65 | ENSMUSG00000047021 |
| rattus_norvegicus | Cfap65 | ENSRNOG00000056996 |
| drosophila_melanogaster | Sox14 | FBGN0005612 |
| drosophila_melanogaster | Sox21a | FBGN0036411 |
Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), SOX12 (ENSG00000177732), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)
Protein
Protein identifiers
Cilia- and flagella-associated protein 65 — Q6ZU64 (reviewed: Q6ZU64)
Alternative names: Coiled-coil domain-containing protein 108
All UniProt accessions (5): C9JIV0, C9JLP9, C9JVA0, H7C0B4, Q6ZU64
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in flagellar formation and sperm motility. Essential for acrosome formation, manchette organization, spermatid head morphogenesis and mitochondrial sheath assembly within the sperm flagellum during spermiogenesis. Also required for proper assembly and stabilization of the C2a projection, a structural subunit of the central pair apparatus within the axoneme of motile cilia and flagella.
Subunit / interactions. Interacts with CFAP47. Interacts with MYCBPAP, MNS1, TPPP2, RSPH1, ZPBP, SPACA1, WDR35, SPAG16, SPATA4, CFAP20 and CFAP70. Interacts with MYCBP in a MYCBPAP-dependent manner.
Subcellular location. Cell projection. Cilium. Flagellum membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome membrane. Cytoplasm. Flagellum. Cytoskeleton. Cilium axoneme. Flagellum axoneme.
Disease relevance. Spermatogenic failure 40 (SPGF40) [MIM:618664] An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the CFAP65 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZU64-1 | 1 | yes |
| Q6ZU64-3 | 2 | |
| Q6ZU64-4 | 3 | |
| Q6ZU64-5 | 4 |
RefSeq proteins (4): NP_001265224, NP_001265225, NP_689602, NP_919278* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000535 | MSP_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR052614 | CFAP65 | Family |
| IPR053879 | HYDIN_VesB_CFA65-like_Ig | Domain |
| IPR056305 | Ig_CFAP65_10th | Domain |
| IPR056344 | Ig_CFAP65-like_9th | Domain |
| IPR057467 | Ig_CFAP65_8th | Domain |
| IPR057470 | Ig_CFAP65_7th | Domain |
| IPR058536 | Ig_CFAP65_4th | Domain |
Pfam: PF22544, PF24291, PF24507, PF24816, PF25248, PF25249
UniProt features (31 total): sequence variant 13, splice variant 6, sequence conflict 3, compositionally biased region 3, region of interest 2, chain 1, transmembrane region 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZU64-F1 | 71.03 | 0.16 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 129 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, RNGTGGGC_UNKNOWN, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, AP4_Q6, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GATA1_01, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ACROSOME_ASSEMBLY
GO Biological Process (3): sperm axoneme assembly (GO:0007288), flagellated sperm motility (GO:0030317), cell projection organization (GO:0030030)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (11): acrosomal vesicle (GO:0001669), acrosomal membrane (GO:0002080), cytoplasm (GO:0005737), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), motile cilium (GO:0031514), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| developmental process involved in reproduction | 1 |
| axoneme assembly | 1 |
| sperm flagellum assembly | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| secretory granule | 1 |
| acrosomal vesicle | 1 |
| secretory granule membrane | 1 |
| intracellular anatomical structure | 1 |
| 9+2 motile cilium | 1 |
| sperm flagellum | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
414 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFAP65 | CFAP70 | Q5T0N1 | 609 |
| CFAP65 | CRYBA2 | P53672 | 599 |
| CFAP65 | CFAP43 | Q8NDM7 | 584 |
| CFAP65 | CFAP47 | Q6ZTR5 | 570 |
| CFAP65 | CFAP44 | Q96MT7 | 551 |
| CFAP65 | TTC29 | Q8NA56 | 479 |
| CFAP65 | TTC21A | Q8NDW8 | 479 |
| CFAP65 | CFAP69 | A5D8W1 | 474 |
| CFAP65 | RSPH10B | P0C881 | 471 |
| CFAP65 | QRICH2 | Q9H0J4 | 459 |
| CFAP65 | SPATA17 | Q96L03 | 448 |
| CFAP65 | FSIP2 | Q5CZC0 | 447 |
| CFAP65 | ARMC2 | Q8NEN0 | 446 |
| CFAP65 | CFAP99 | D6REC4 | 445 |
| CFAP65 | CFAP251 | Q8TBY9 | 432 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| PRKAR1A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): CCDC108 (Two-hybrid), GART (Co-fractionation), CCDC108 (Affinity Capture-MS), CCDC108 (Protein-RNA)
ESM2 similar proteins: A0A0G2JEB6, A0JM56, B0DOB4, B0FXQ5, B1ANS9, B4F7L9, B4GQJ7, B5DHW4, B7FF06, B7FF07, B7FF08, B7FF09, B7FF12, C5IAW9, F1LW30, F1P4W9, O08747, O95185, P0DM40, Q008S8, Q18264, Q32NR9, Q3V0B4, Q402B2, Q4G0P3, Q5R4M2, Q5T0N1, Q5XI14, Q6AXU1, Q6DCF6, Q6NRS1, Q6P2C0, Q6P5D8, Q6UXZ4, Q6ZTR5, Q6ZU64, Q761X5, Q7T2Z5, Q80W93, Q86YR7
Diamond homologs: F1P4W9, Q3V0B4, Q6ZU64
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 3 |
| Uncertain significance | 38 |
| Likely benign | 22 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2066848 | NM_194302.4(CFAP65):c.400C>T (p.Gln134Ter) | Pathogenic |
| 694534 | NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter) | Pathogenic |
| 694535 | NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter) | Pathogenic |
| 694536 | NM_194302.4(CFAP65):c.1580del (p.Leu527fs) | Pathogenic |
| 694583 | NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter) | Pathogenic |
| 2160780 | NM_194302.4(CFAP65):c.3602+1G>T | Likely pathogenic |
| 2629507 | NM_194302.4(CFAP65):c.3603G>A (p.Trp1201Ter) | Likely pathogenic |
| 3256948 | NM_194302.4(CFAP65):c.5518G>T (p.Glu1840Ter) | Likely pathogenic |
SpliceAI
6412 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:219003019:CTC:C | acceptor_gain | 1.0000 |
| 2:219003020:TCC:T | acceptor_loss | 1.0000 |
| 2:219003022:CTGGA:C | acceptor_loss | 1.0000 |
| 2:219003129:CCTTA:C | donor_loss | 1.0000 |
| 2:219003130:CTTAC:C | donor_loss | 1.0000 |
| 2:219003131:TTAC:T | donor_loss | 1.0000 |
| 2:219003132:TACC:T | donor_loss | 1.0000 |
| 2:219003133:A:AC | donor_gain | 1.0000 |
| 2:219003133:ACC:A | donor_loss | 1.0000 |
| 2:219003134:C:A | donor_loss | 1.0000 |
| 2:219003134:C:CC | donor_gain | 1.0000 |
| 2:219003271:GC:G | acceptor_gain | 1.0000 |
| 2:219003271:GCC:G | acceptor_loss | 1.0000 |
| 2:219003272:CC:C | acceptor_gain | 1.0000 |
| 2:219003273:C:CC | acceptor_gain | 1.0000 |
| 2:219003273:CTGC:C | acceptor_loss | 1.0000 |
| 2:219004332:CAGG:C | donor_gain | 1.0000 |
| 2:219006510:C:CC | acceptor_gain | 1.0000 |
| 2:219009035:AGC:A | donor_gain | 1.0000 |
| 2:219009041:CCTCA:C | donor_loss | 1.0000 |
| 2:219009042:CTCAC:C | donor_loss | 1.0000 |
| 2:219009043:TCA:T | donor_loss | 1.0000 |
| 2:219009044:CAC:C | donor_loss | 1.0000 |
| 2:219009046:C:A | donor_loss | 1.0000 |
| 2:219009046:CCT:C | donor_gain | 1.0000 |
| 2:219009055:T:A | donor_gain | 1.0000 |
| 2:219009081:T:TA | donor_gain | 1.0000 |
| 2:219009150:TACAG:T | acceptor_gain | 1.0000 |
| 2:219009152:CAG:C | acceptor_gain | 1.0000 |
| 2:219009155:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
12708 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:219010840:A:G | W1372R | 0.996 |
| 2:219010840:A:T | W1372R | 0.996 |
| 2:219023284:A:G | W915R | 0.996 |
| 2:219023284:A:T | W915R | 0.996 |
| 2:219022320:A:G | W944R | 0.995 |
| 2:219022320:A:T | W944R | 0.995 |
| 2:219027799:A:G | W688R | 0.994 |
| 2:219027799:A:T | W688R | 0.994 |
| 2:219010979:A:C | N1325K | 0.993 |
| 2:219010979:A:T | N1325K | 0.993 |
| 2:219009971:A:G | W1475R | 0.992 |
| 2:219009971:A:T | W1475R | 0.992 |
| 2:219031283:A:G | W280R | 0.992 |
| 2:219031283:A:T | W280R | 0.992 |
| 2:219032486:A:G | F210S | 0.991 |
| 2:219019052:A:G | W1201R | 0.990 |
| 2:219019052:A:T | W1201R | 0.990 |
| 2:219009071:G:C | F1550L | 0.989 |
| 2:219009071:G:T | F1550L | 0.989 |
| 2:219009073:A:G | F1550L | 0.989 |
| 2:219027827:G:C | N678K | 0.989 |
| 2:219027827:G:T | N678K | 0.989 |
| 2:219032485:G:C | F210L | 0.989 |
| 2:219032485:G:T | F210L | 0.989 |
| 2:219032487:A:G | F210L | 0.989 |
| 2:219010957:A:C | Y1333D | 0.988 |
| 2:219035556:A:G | W156R | 0.988 |
| 2:219035556:A:T | W156R | 0.988 |
| 2:219010655:A:G | F1400S | 0.987 |
| 2:219013299:A:G | F1306S | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000123535 (2:219025697 G>A), RS1000139032 (2:219019906 C>T), RS1000239962 (2:219029938 GCAGGGGCTGCTCCTGTCCC>G), RS1000243978 (2:219010820 C>T), RS1000273905 (2:219020273 C>T), RS1000476000 (2:219021385 C>T), RS1000612730 (2:219021692 C>G,T), RS1000816287 (2:219016054 A>G), RS1000843066 (2:219010395 G>A,C,T), RS1000883562 (2:219017072 AC>A), RS1001069259 (2:219005739 T>C), RS1001123964 (2:219015820 C>T), RS1001187985 (2:219027377 T>C,G), RS1001246165 (2:219012127 A>C), RS1001254763 (2:219038630 G>C,T)
Disease associations
OMIM: gene MIM:614270 | disease phenotypes: MIM:618664
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| non-syndromic male infertility due to sperm motility disorder | Supportive | Autosomal recessive |
| spermatogenic failure 40 | Limited | Autosomal recessive |
Mondo (3): spermatogenic failure 40 (MONDO:0032859), prostate cancer (MONDO:0008315), (MONDO:0017173)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Non-syndromic male infertility due to sperm motility disorder (Orphanet:276234)
HPO phenotypes
7 total (7 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000798 | Oligozoospermia |
| HP:0003251 | Male infertility |
| HP:0012208 | Immotile sperm |
| HP:0032558 | Absent sperm flagella |
| HP:0032559 | Short sperm flagella |
| HP:0032560 | Coiled sperm flagella |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008839_220 | Height | 4.000000e-14 |
| GCST012226_196 | Waist circumference adjusted for body mass index | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
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
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| terbufos | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Smoke | increases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Levonorgestrel | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | 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 |
Related Atlas pages
- Associated diseases: spermatogenic failure 40
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 40