CFAP52
gene geneOn this page
Also known as WDRPUHFLJ37528
Summary
CFAP52 (cilia and flagella associated protein 52, HGNC:16053) is a protein-coding gene on chromosome 17p13.1, encoding Cilia- and flagella-associated protein 52 (Q8N1V2). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme.
WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).
Source: NCBI Gene 146845 — RefSeq curated summary.
At a glance
- Gene–disease (curated): situs inversus (Supportive, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 178 total — 1 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 9
- MANE Select transcript:
NM_145054
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16053 |
| Approved symbol | CFAP52 |
| Name | cilia and flagella associated protein 52 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | WDRPUH, FLJ37528 |
| Ensembl gene | ENSG00000166596 |
| Ensembl biotype | protein_coding |
| OMIM | 609804 |
| Entrez | 146845 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000352665, ENST00000396219, ENST00000572333, ENST00000574097, ENST00000574937, ENST00000575247, ENST00000576320, ENST00000576499, ENST00000576630, ENST00000576714
RefSeq mRNA: 2 — MANE Select: NM_145054
NM_001080556, NM_145054
CCDS: CCDS11149, CCDS42262
Canonical transcript exons
ENST00000352665 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001860783 | 9643023 | 9643447 |
| ENSE00002673831 | 9576642 | 9576765 |
| ENSE00003465907 | 9635405 | 9635556 |
| ENSE00003487230 | 9638609 | 9638711 |
| ENSE00003512498 | 9628672 | 9628820 |
| ENSE00003541818 | 9594193 | 9594321 |
| ENSE00003564959 | 9586698 | 9586834 |
| ENSE00003586515 | 9632888 | 9633033 |
| ENSE00003613159 | 9600067 | 9600183 |
| ENSE00003623403 | 9608119 | 9608219 |
| ENSE00003663167 | 9598234 | 9598333 |
| ENSE00003673535 | 9641724 | 9641835 |
| ENSE00003690418 | 9612309 | 9612479 |
| ENSE00003708106 | 9585773 | 9585972 |
Expression profiles
Bgee: expression breadth ubiquitous, 170 present calls, max score 99.36.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5138 / max 61.0039, expressed in 120 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159544 | 0.3061 | 84 |
| 159545 | 0.2077 | 72 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 99.36 | gold quality |
| right uterine tube | UBERON:0001302 | 98.67 | gold quality |
| bronchus | UBERON:0002185 | 98.57 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.74 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.93 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.30 | gold quality |
| fallopian tube | UBERON:0003889 | 87.24 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 85.35 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.24 | gold quality |
| sperm | CL:0000019 | 84.71 | gold quality |
| endothelial cell | CL:0000115 | 83.51 | gold quality |
| caput epididymis | UBERON:0004358 | 82.15 | gold quality |
| left testis | UBERON:0004533 | 81.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.94 | gold quality |
| right testis | UBERON:0004534 | 80.77 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 80.52 | gold quality |
| testis | UBERON:0000473 | 79.39 | gold quality |
| trachea | UBERON:0003126 | 78.78 | gold quality |
| adult organism | UBERON:0007023 | 77.55 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 75.74 | gold quality |
| right lung | UBERON:0002167 | 75.74 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 74.12 | gold quality |
| adenohypophysis | UBERON:0002196 | 71.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.20 | gold quality |
| pituitary gland | UBERON:0000007 | 71.11 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 70.54 | gold quality |
| left uterine tube | UBERON:0001303 | 70.29 | gold quality |
| right frontal lobe | UBERON:0002810 | 70.05 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 69.99 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 60.78 |
| E-MTAB-9388 | yes | 6.76 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting CFAP52, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-5007-5P | 97.95 | 64.71 | 614 |
| HSA-MIR-4264 | 96.35 | 64.76 | 1480 |
| HSA-MIR-4653-3P | 96.26 | 67.03 | 725 |
Literature-anchored findings (GeneRIF, showing 2)
- WDRPUH is a novel WD-repeat-containing protein highly expressed in human hepatocellular carcinoma and involved in cell proliferation (PMID:15967112)
- The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice. (PMID:37236356)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cfap52 | ENSDARG00000101679 |
| mus_musculus | Cfap52 | ENSMUSG00000020904 |
| rattus_norvegicus | Cfap52 | ENSRNOG00000037718 |
| drosophila_melanogaster | CG10064 | FBGN0035724 |
Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)
Protein
Protein identifiers
Cilia- and flagella-associated protein 52 — Q8N1V2 (reviewed: Q8N1V2)
Alternative names: WD repeat-containing protein 16, WD40-repeat protein up-regulated in HCC
All UniProt accessions (6): A0A096LNH3, Q8N1V2, I3L237, I3L2G9, K7ERC0, V9GY13
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme. Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11. May play a role in cell growth and/or survival.
Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with BRCA2. Interacts with the CCT chaperonin complex. Interacts with HSP70. Interacts with AK8. Interacts with CFAP45. Interacts with DNAI1. Interacts with IQDC.
Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.
Tissue specificity. Expressed in respiratory cells and sperm (at protein level). Highly expressed in testis. Up-regulated in hepatocellular carcinoma (HCC).
Disease relevance. Heterotaxy, visceral, 10, autosomal, with male infertility (HTX10) [MIM:619607] A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. May be a good candidate as a diagnostic marker for HCC as well as a potential molecular target for development of novel therapeutic drugs.
Similarity. Belongs to the CFAP52 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N1V2-1 | 1 | yes |
| Q8N1V2-2 | 2 | |
| Q8N1V2-3 | 3 |
RefSeq proteins (2): NP_001074025, NP_659491* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050630 | WD_repeat_EMAP | Family |
Pfam: PF00400
UniProt features (19 total): repeat 11, sequence conflict 3, splice variant 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7UNG | ELECTRON MICROSCOPY | 3.6 |
| 8J07 | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N1V2-F1 | 93.59 | 0.90 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 115 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_SPECIFICATION_OF_SYMMETRY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, RFX1_02, GOBP_FERTILIZATION, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_SPERM_MIDPIECE, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM
GO Biological Process (7): spermatid development (GO:0007286), single fertilization (GO:0007338), gene expression (GO:0010467), flagellated sperm motility (GO:0030317), microtubule sliding (GO:0051012), establishment of left/right asymmetry (GO:0061966), spermatogenesis (GO:0007283)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (11): axonemal microtubule (GO:0005879), axoneme (GO:0005930), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), 9+2 motile cilium (GO:0097729), axonemal B tubule inner sheath (GO:0160112), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| fertilization | 1 |
| macromolecule biosynthetic process | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| microtubule-based movement | 1 |
| determination of left/right symmetry | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| binding | 1 |
| cytoplasmic microtubule | 1 |
| axoneme | 1 |
| cytoskeleton | 1 |
| microtubule | 1 |
| ciliary plasm | 1 |
| 9+2 motile cilium | 1 |
| sperm flagellum | 1 |
| radial spoke | 1 |
| motile cilium | 1 |
| inner dynein arm | 1 |
| outer dynein arm | 1 |
| axonemal central pair | 1 |
| axonemal doublet microtubule | 1 |
| A axonemal microtubule | 1 |
| axonemal microtubule doublet inner sheath | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
1329 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFAP52 | CCT4 | P50991 | 830 |
| CFAP52 | TCP1 | P17987 | 692 |
| CFAP52 | BRCA2 | P51587 | 669 |
| CFAP52 | HSPA4 | P34932 | 662 |
| CFAP52 | CFAP53 | Q96M91 | 635 |
| CFAP52 | CFAP45 | Q9UL16 | 597 |
| CFAP52 | LRRC23 | Q53EV4 | 582 |
| CFAP52 | CFAP251 | Q8TBY9 | 539 |
| CFAP52 | RSPH14 | Q9UHP6 | 530 |
| CFAP52 | MMP21 | Q8N119 | 529 |
| CFAP52 | CCDC146 | Q8IYE0 | 505 |
| CFAP52 | CFAP161 | Q6P656 | 498 |
| CFAP52 | CFAP70 | Q5T0N1 | 484 |
| CFAP52 | CFAP300 | Q9BRQ4 | 468 |
| CFAP52 | ZSWIM2 | Q8NEG5 | 466 |
| CFAP52 | TSNAXIP1 | Q2TAA8 | 466 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFAP52 | ASMTL | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| NUDCD3 | CFAP52 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFAP52 | NUDCD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFAP52 | NUDC | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (14): CRYZL1 (Affinity Capture-MS), ASMTL (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CLTCL1 (Affinity Capture-MS), CFAP52 (Synthetic Lethality), ASMTL (Affinity Capture-MS), CRYZL1 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), HSPA4 (Affinity Capture-Western), CCT4 (Affinity Capture-Western), TCP1 (Affinity Capture-Western), BRCA2 (Affinity Capture-Western)
ESM2 similar proteins: A3LX18, A5DGL8, A5DVY3, A8ILK1, E1BKF9, E3LB80, F1SS88, O00423, O14301, O75083, O88342, O93277, P0CS32, P0CS33, P23232, Q05BC3, Q05BV3, Q15269, Q26613, Q29HG9, Q2KJH4, Q4P6E2, Q54MT0, Q5AI86, Q5F201, Q5RFQ3, Q5RHH4, Q5RKI0, Q5SQM0, Q6BSL7, Q6CI08, Q6DIF4, Q6ED65, Q6FL15, Q6PAX7, Q6ZMW3, Q759L2, Q8BHB4, Q8BQM8, Q8BU03
Diamond homologs: A1L271, A8ILK1, E1BKF9, F1SS88, O14775, O93277, P62881, P62882, Q54PE0, Q5F201, Q5RDY7, Q5UNZ2, Q6PNB6, Q80ZD0, Q8N1V2, Q95JL5, Q6VNB8, Q8IZQ1, Q9C270, A7TH19, Q08274, Q09019, Q54ZP5, Q6ZNJ1, Q759L2, A1CGS0, A1CUD6, A2QHM1, A3LNW3, A4REK3, A5DHD9, A5DXE2, A8WVD2, A8XJ40, B3RNR8, B5DG67, F4IIK6, G0SA60, O45933, O54929
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
178 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 5 |
| Uncertain significance | 108 |
| Likely benign | 24 |
| Benign | 15 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1319991 | NC_000017.10:g.9481617_9489649del | Pathogenic |
| 1443577 | NM_145054.5(CFAP52):c.536+1G>T | Likely pathogenic |
| 2503114 | NM_145054.5(CFAP52):c.705del (p.Thr236fs) | Likely pathogenic |
| 3065385 | NM_145054.5(CFAP52):c.547C>T (p.Arg183Ter) | Likely pathogenic |
| 4540415 | NM_145054.5(CFAP52):c.1219C>T (p.Arg407Ter) | Likely pathogenic |
| 625821 | GRCh37/hg19 17p13.1(chr17:9489128-9489263) | Likely pathogenic |
SpliceAI
2415 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:9594191:A:AG | acceptor_gain | 1.0000 |
| 17:9594192:G:GG | acceptor_gain | 1.0000 |
| 17:9594192:GT:G | acceptor_gain | 1.0000 |
| 17:9594318:GAAA:G | donor_gain | 1.0000 |
| 17:9594319:A:T | donor_gain | 1.0000 |
| 17:9594322:G:GG | donor_gain | 1.0000 |
| 17:9598230:ATAGT:A | acceptor_gain | 1.0000 |
| 17:9598231:T:G | acceptor_gain | 1.0000 |
| 17:9598232:A:AG | acceptor_gain | 1.0000 |
| 17:9598232:AGT:A | acceptor_gain | 1.0000 |
| 17:9598232:AGTG:A | acceptor_gain | 1.0000 |
| 17:9598233:G:GG | acceptor_gain | 1.0000 |
| 17:9598233:GT:G | acceptor_gain | 1.0000 |
| 17:9598233:GTG:G | acceptor_gain | 1.0000 |
| 17:9598233:GTGG:G | acceptor_gain | 1.0000 |
| 17:9598331:GGA:G | donor_gain | 1.0000 |
| 17:9598332:GAG:G | donor_gain | 1.0000 |
| 17:9598334:G:GG | donor_gain | 1.0000 |
| 17:9600179:GTTTG:G | donor_gain | 1.0000 |
| 17:9612305:A:AG | acceptor_gain | 1.0000 |
| 17:9612306:A:G | acceptor_gain | 1.0000 |
| 17:9612307:A:AG | acceptor_gain | 1.0000 |
| 17:9612308:G:GG | acceptor_gain | 1.0000 |
| 17:9612476:CATT:C | donor_gain | 1.0000 |
| 17:9612476:CATTG:C | donor_loss | 1.0000 |
| 17:9612477:ATT:A | donor_gain | 1.0000 |
| 17:9612478:TT:T | donor_gain | 1.0000 |
| 17:9612478:TTGTG:T | donor_loss | 1.0000 |
| 17:9612479:TG:T | donor_loss | 1.0000 |
| 17:9612480:G:GG | donor_gain | 1.0000 |
AlphaMissense
4099 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:9633013:A:C | S434R | 1.000 |
| 17:9633015:T:A | S434R | 1.000 |
| 17:9633015:T:G | S434R | 1.000 |
| 17:9643145:A:C | S604R | 1.000 |
| 17:9643147:T:A | S604R | 1.000 |
| 17:9643147:T:G | S604R | 1.000 |
| 17:9641830:T:A | V561D | 0.999 |
| 17:9643049:T:A | W572R | 0.999 |
| 17:9643049:T:C | W572R | 0.999 |
| 17:9643175:T:A | W614R | 0.999 |
| 17:9643175:T:C | W614R | 0.999 |
| 17:9586713:T:A | W96R | 0.998 |
| 17:9586713:T:C | W96R | 0.998 |
| 17:9594203:T:A | W140R | 0.998 |
| 17:9594203:T:C | W140R | 0.998 |
| 17:9598250:T:A | W185R | 0.998 |
| 17:9598250:T:C | W185R | 0.998 |
| 17:9628721:T:A | W359R | 0.998 |
| 17:9628721:T:C | W359R | 0.998 |
| 17:9632890:T:A | W393R | 0.998 |
| 17:9632890:T:C | W393R | 0.998 |
| 17:9635514:T:A | V477D | 0.998 |
| 17:9635522:A:C | S480R | 0.998 |
| 17:9635524:C:A | S480R | 0.998 |
| 17:9635524:C:G | S480R | 0.998 |
| 17:9635546:T:A | W488R | 0.998 |
| 17:9635546:T:C | W488R | 0.998 |
| 17:9643041:T:A | V569D | 0.998 |
| 17:9643176:G:C | W614S | 0.998 |
| 17:9643177:G:C | W614C | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000013951 (17:9636182 A>C,G), RS1000186986 (17:9622057 T>C), RS1000195474 (17:9577001 G>A), RS1000222139 (17:9598923 C>A,T), RS1000244715 (17:9629066 T>C), RS1000300453 (17:9607292 G>A), RS1000413311 (17:9588243 C>G,T), RS1000423074 (17:9601852 G>A), RS1000452134 (17:9601513 G>A), RS1000500864 (17:9600424 G>A,T), RS1000522742 (17:9623349 T>C), RS1000631042 (17:9607679 A>G), RS1000696330 (17:9636607 C>G,T), RS1000772403 (17:9636218 A>G), RS1000828478 (17:9606417 A>T)
Disease associations
OMIM: gene MIM:609804 | disease phenotypes: MIM:619607
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| situs inversus | Supportive | Autosomal dominant |
| visceral heterotaxy | Limited | Autosomal recessive |
Mondo (4): situs inversus (MONDO:0010029), heterotaxy, visceral, 10, autosomal, with male infertility (MONDO:0030474), male infertility (MONDO:0005372), visceral heterotaxy (MONDO:0018677)
Orphanet (1): Situs inversus totalis (Orphanet:101063)
HPO phenotypes
9 total (9 of 9 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000403 | Recurrent otitis media |
| HP:0001651 | Dextrocardia |
| HP:0001696 | Situs inversus totalis |
| HP:0003251 | Male infertility |
| HP:0003363 | Abdominal situs inversus |
| HP:0011109 | Chronic sinusitis |
| HP:0012735 | Cough |
| HP:0033036 | Decreased nasal nitric oxide |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
| D012857 | Situs Inversus | C16.131.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
129 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT01591928 | Not specified | COMPLETED | Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study |
| NCT01929967 | Not specified | COMPLETED | Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data |
| NCT02432079 | Not specified | RECRUITING | Molecular Genetics of Heterotaxy and Related Congenital Heart Defects |
| NCT00608556 | Not specified | COMPLETED | Dyskinesia, Heterotaxy and Congenital Heart Disease |
| NCT01304927 | PHASE2/PHASE3 | COMPLETED | Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial |
| NCT02349945 | PHASE2/PHASE3 | COMPLETED | FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy |
| NCT05222841 | PHASE2/PHASE3 | COMPLETED | The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility |
| NCT05616598 | PHASE2/PHASE3 | COMPLETED | Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters |
| NCT02025270 | PHASE1/PHASE2 | COMPLETED | MSCs For Treatment of Azoospermic Patients |
| NCT04541459 | EARLY_PHASE1 | UNKNOWN | Validation of New Devices Against Ambient Electromagnetic Radiation |
| NCT05792813 | EARLY_PHASE1 | UNKNOWN | Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility |
| NCT06188936 | EARLY_PHASE1 | COMPLETED | Home Semen Analysis Tests As a Screening Tool for Fertility Patients |
| NCT00012480 | Not specified | COMPLETED | Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm |
| NCT00044369 | Not specified | COMPLETED | Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
| NCT00178516 | Not specified | COMPLETED | Vitamin E and Male Infertility |
| NCT00315029 | Not specified | COMPLETED | Patient-Centered Implementation Trial for Single Embryo Transfer |
| NCT00341120 | Not specified | COMPLETED | Genetic Causes of Male Infertility |
| NCT00481403 | Not specified | COMPLETED | Study of Sperm Molecular Factors Implicated in Male Fertility |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT00596739 | Not specified | COMPLETED | A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery |
Related Atlas pages
- Associated diseases: visceral heterotaxy, situs inversus
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): heterotaxy, visceral, 10, autosomal, with male infertility, male infertility, situs inversus, visceral heterotaxy