CATSPERT
gene geneOn this page
Also known as FLJ25351
Summary
CATSPERT (catsper channel auxiliary subunit tau, HGNC:14438) is a protein-coding gene on chromosome 2q33.1, encoding Cation channel sperm-associated targeting subunit tau (Q53TS8). Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.
An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction.
Source: NCBI Gene 151254 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 161 total — 1 pathogenic
- Phenotypes (HPO): 4
- MANE Select transcript:
NM_001168221
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14438 |
| Approved symbol | CATSPERT |
| Name | catsper channel auxiliary subunit tau |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25351 |
| Ensembl gene | ENSG00000155754 |
| Ensembl biotype | protein_coding |
| OMIM | 619776 |
| Entrez | 151254 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000286195, ENST00000439140, ENST00000439802, ENST00000450242, ENST00000482942, ENST00000957096, ENST00000957097, ENST00000957098
RefSeq mRNA: 4 — MANE Select: NM_001168221
NM_001168216, NM_001168217, NM_001168221, NM_152525
CCDS: CCDS2349, CCDS54428, CCDS54429, CCDS54430
Canonical transcript exons
ENST00000439140 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076310 | 201547505 | 201547610 |
| ENSE00001076311 | 201604611 | 201604697 |
| ENSE00001076312 | 201603224 | 201603275 |
| ENSE00001076313 | 201601739 | 201601884 |
| ENSE00001076316 | 201571941 | 201572020 |
| ENSE00001076317 | 201565729 | 201565872 |
| ENSE00001076318 | 201582095 | 201582217 |
| ENSE00001076321 | 201545543 | 201545621 |
| ENSE00001076322 | 201575282 | 201575326 |
| ENSE00001076323 | 201574209 | 201574277 |
| ENSE00001200709 | 201536021 | 201536320 |
| ENSE00001200712 | 201537436 | 201537479 |
| ENSE00001401463 | 201618900 | 201619178 |
| ENSE00001704203 | 201487421 | 201487902 |
| ENSE00001778001 | 201491169 | 201494759 |
| ENSE00003568413 | 201495895 | 201495969 |
Expression profiles
Bgee: expression breadth ubiquitous, 159 present calls, max score 95.63.
FANTOM5 (CAGE): breadth broad, TPM avg 0.6685 / max 81.1953, expressed in 293 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33237 | 0.6020 | 276 |
| 33235 | 0.0665 | 18 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 95.63 | gold quality |
| left testis | UBERON:0004533 | 88.83 | gold quality |
| right testis | UBERON:0004534 | 88.16 | gold quality |
| testis | UBERON:0000473 | 86.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.68 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.25 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.17 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.14 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.74 | gold quality |
| secondary oocyte | CL:0000655 | 72.99 | gold quality |
| tendon | UBERON:0000043 | 71.51 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 69.53 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 68.64 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 67.71 | gold quality |
| apex of heart | UBERON:0002098 | 66.89 | gold quality |
| corpus callosum | UBERON:0002336 | 66.69 | gold quality |
| oocyte | CL:0000023 | 66.29 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 65.84 | gold quality |
| spinal cord | UBERON:0002240 | 65.37 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 64.87 | gold quality |
| pituitary gland | UBERON:0000007 | 64.59 | gold quality |
| adenohypophysis | UBERON:0002196 | 64.27 | gold quality |
| left adrenal gland | UBERON:0001234 | 63.97 | gold quality |
| lower lobe of lung | UBERON:0008949 | 63.87 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 63.67 | gold quality |
| right atrium auricular region | UBERON:0006631 | 63.45 | gold quality |
| right adrenal gland | UBERON:0001233 | 63.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 63.26 | gold quality |
| hypothalamus | UBERON:0001898 | 63.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting CATSPERT, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-569 | 99.42 | 66.32 | 1009 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-889-3P | 99.40 | 69.76 | 2103 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-628-5P | 98.36 | 67.74 | 844 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-218-2-3P | 98.08 | 67.21 | 601 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-597-3P | 96.46 | 68.03 | 1035 |
| HSA-MIR-152-5P | 96.42 | 66.59 | 960 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | C2cd6 | ENSMUSG00000072295 |
| rattus_norvegicus | C2cd6 | ENSRNOG00000012637 |
Protein
Protein identifiers
Cation channel sperm-associated targeting subunit tau — Q53TS8 (reviewed: Q53TS8)
Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein, C2 calcium-dependent domain-containing protein 6, Catsper channel auxiliary subunit tau
All UniProt accessions (2): Q53TS8, A0A140VJE2
UniProt curated annotations — full annotation on UniProt →
Function. Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CatSper complex targeting and trafficking into the quadrilinear nanodomains. Targets the preassembled CatSper complexes to elongating flagella, where it links the channel-carrying vesicles and motor proteins.
Subunit / interactions. Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE, CATSPERZ, CATSPERT, CATSPERQ, CATSPERH and EFCAB9. HSPA1 may be an additional auxiliary complex member. The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively. SLCO6C1 interacts with CATSPERE and CATSPERH interacts with CATSPERB, further stabilizing the complex. CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane.
Subcellular location. Cell projection. Cilium. Flagellum membrane.
Tissue specificity. Expressed in testis (at protein level).
Disease relevance. Spermatogenic failure 68 (SPGF68) [MIM:619805] An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. The disease may be caused by variants affecting the gene represented in this entry.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53TS8-4 | 1, L | yes |
| Q53TS8-1 | 2, S | |
| Q53TS8-2 | 3 | |
| Q53TS8-3 | 4 |
RefSeq proteins (4): NP_001161688, NP_001161689, NP_001161693, NP_689738 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR031462 | CTSRT | Family |
| IPR048363 | CTSRT_C2 | Domain |
Pfam: PF15729
UniProt features (18 total): splice variant 5, region of interest 4, sequence variant 3, sequence conflict 3, chain 1, domain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53TS8-F1 | 39.82 | 0.03 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 86 (showing top):
TGCGCANK_UNKNOWN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_SPERM_CAPACITATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, TTGGAGA_MIR5155P_MIR519E, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOCC_VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX, GOCC_MOTILE_CILIUM, GOCC_CATION_CHANNEL_COMPLEX
GO Biological Process (4): spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), sperm capacitation (GO:0048240), vesicle-mediated transport to the plasma membrane (GO:0098876)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): CatSper complex (GO:0036128), sperm principal piece (GO:0097228), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), motile cilium (GO:0031514), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| developmental process involved in reproduction | 2 |
| male gamete generation | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| spermatid development | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| cell maturation | 1 |
| exocytosis | 1 |
| vesicle-mediated transport | 1 |
| localization within membrane | 1 |
| binding | 1 |
| voltage-gated calcium channel complex | 1 |
| sperm flagellum | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
502 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CATSPERT | SPACDR | Q8IZ16 | 678 |
| CATSPERT | EFCAB9 | A8MZ26 | 626 |
| CATSPERT | TSACC | Q96A04 | 569 |
| CATSPERT | C22orf23 | Q9BZE7 | 540 |
| CATSPERT | SPATA16 | Q9BXB7 | 539 |
| CATSPERT | TMEM237 | Q96Q45 | 522 |
| CATSPERT | FLACC1 | Q96Q35 | 511 |
| CATSPERT | CCDC62 | Q6P9F0 | 500 |
| CATSPERT | ZPBP | Q9BS86 | 480 |
| CATSPERT | GKAP1 | Q5VSY0 | 479 |
| CATSPERT | ACTRT2 | Q8TDY3 | 474 |
| CATSPERT | DPY19L2 | Q6NUT2 | 467 |
| CATSPERT | ODAD4 | Q96NG3 | 461 |
| CATSPERT | DNAH17 | Q9UFH2 | 457 |
| CATSPERT | CCDC54 | Q8NEL0 | 436 |
IntAct
183 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C2CD6 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| C2CD6 | KRT31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT31 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA2 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT13 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT15 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDR2 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT40 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJA3 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | KRT13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | DNAJA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | CARD9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFIP11 | C2CD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | KRT15 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (79): ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid), BRCA1 (Two-hybrid), ALS2CR11 (Two-hybrid), ALS2CR11 (Two-hybrid)
ESM2 similar proteins: A0A509AC44, A3LU54, A5K168, A6QLI2, A6ZQG7, A7TIZ4, A8X9H4, B3LAJ9, O16883, P09959, P16893, P25558, P28466, P32567, P33736, P35177, P36124, P36168, P38970, P39717, P40418, P40456, P40480, P42666, P43554, P47868, P53125, P69192, P69193, P87152, Q08236, Q08957, Q12202, Q26015, Q4XZY3, Q53TS8, Q59PW0, Q5UQK5, Q6BGY8, Q6BIF0
Diamond homologs: A0A5F8MPU3, Q53TS8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intermediate filament organization | 6 | 25.8× | 7e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
161 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 130 |
| Likely benign | 16 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1345025 | NM_001168221.2(C2CD6):c.338A>G (p.His113Arg) | Pathogenic |
SpliceAI
3410 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:201536205:T:TA | donor_gain | 1.0000 |
| 2:201545537:TCTTA:T | donor_loss | 1.0000 |
| 2:201545538:CTTAC:C | donor_loss | 1.0000 |
| 2:201545539:TTA:T | donor_loss | 1.0000 |
| 2:201545540:T:TG | donor_loss | 1.0000 |
| 2:201545541:A:AC | donor_gain | 1.0000 |
| 2:201545541:A:AG | donor_loss | 1.0000 |
| 2:201545542:C:CC | donor_gain | 1.0000 |
| 2:201545542:CCTA:C | donor_gain | 1.0000 |
| 2:201545545:A:AC | donor_gain | 1.0000 |
| 2:201545545:ACT:A | donor_gain | 1.0000 |
| 2:201545546:C:CC | donor_gain | 1.0000 |
| 2:201545546:CTC:C | donor_gain | 1.0000 |
| 2:201545619:TTC:T | acceptor_gain | 1.0000 |
| 2:201545620:TCCT:T | acceptor_loss | 1.0000 |
| 2:201547500:ATTAC:A | donor_loss | 1.0000 |
| 2:201547501:TTA:T | donor_loss | 1.0000 |
| 2:201547502:TA:T | donor_loss | 1.0000 |
| 2:201547504:C:G | donor_loss | 1.0000 |
| 2:201571939:A:AC | donor_gain | 1.0000 |
| 2:201571940:C:CC | donor_gain | 1.0000 |
| 2:201571940:CGT:C | donor_gain | 1.0000 |
| 2:201571940:CGTCA:C | donor_gain | 1.0000 |
| 2:201572016:TTTAA:T | acceptor_gain | 1.0000 |
| 2:201572017:TTAA:T | acceptor_gain | 1.0000 |
| 2:201572018:TAA:T | acceptor_gain | 1.0000 |
| 2:201572021:C:CC | acceptor_gain | 1.0000 |
| 2:201582226:C:CT | acceptor_gain | 1.0000 |
| 2:201582227:A:T | acceptor_gain | 1.0000 |
| 2:201601881:CTGA:C | acceptor_gain | 1.0000 |
AlphaMissense
12098 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:201574245:G:C | F239L | 0.993 |
| 2:201574245:G:T | F239L | 0.993 |
| 2:201574247:A:G | F239L | 0.993 |
| 2:201574271:A:G | C231R | 0.993 |
| 2:201582171:A:G | L188P | 0.993 |
| 2:201547559:T:A | K343N | 0.991 |
| 2:201547559:T:G | K343N | 0.991 |
| 2:201574246:A:G | F239S | 0.991 |
| 2:201547588:A:C | Y334D | 0.989 |
| 2:201547548:A:G | L347S | 0.988 |
| 2:201582188:A:C | N182K | 0.988 |
| 2:201582188:A:T | N182K | 0.988 |
| 2:201547558:C:G | A344P | 0.987 |
| 2:201547588:A:G | Y334H | 0.986 |
| 2:201574269:G:C | C231W | 0.986 |
| 2:201582111:A:G | L208P | 0.986 |
| 2:201582130:C:A | G202W | 0.986 |
| 2:201547560:T:A | K343I | 0.985 |
| 2:201547570:A:G | W340R | 0.985 |
| 2:201547570:A:T | W340R | 0.985 |
| 2:201547608:A:G | L327P | 0.985 |
| 2:201571982:A:C | F264L | 0.985 |
| 2:201571982:A:T | F264L | 0.985 |
| 2:201571984:A:G | F264L | 0.985 |
| 2:201572019:A:G | L252S | 0.985 |
| 2:201574222:C:T | G247E | 0.985 |
| 2:201582216:A:T | V173D | 0.985 |
| 2:201601749:A:G | F169S | 0.985 |
| 2:201603265:A:G | L110P | 0.985 |
| 2:201571983:A:G | F264S | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000021516 (2:201486942 C>G,T), RS1000022273 (2:201538710 G>A), RS1000042810 (2:201536986 G>A), RS1000077610 (2:201495246 G>C), RS1000088578 (2:201616754 G>A,C), RS1000090374 (2:201592213 G>A,C), RS1000114253 (2:201538856 C>T), RS1000128718 (2:201545907 A>G), RS1000144297 (2:201579239 T>A), RS1000154686 (2:201544564 TTCCTCTGCATAAACACAC>T), RS1000184795 (2:201579089 C>T), RS1000200519 (2:201530817 C>T), RS1000216491 (2:201584355 G>A), RS1000283229 (2:201539078 T>C), RS1000317054 (2:201599015 G>A)
Disease associations
OMIM: gene MIM:619776 | disease phenotypes: MIM:619805
GenCC curated gene-disease
Mondo (2): spermatogenic failure 68 (MONDO:0030721), prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0011462 | Young adult onset |
| HP:0012205 | Globozoospermia |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009665_1 | Breast cancer | 2.000000e-08 |
| GCST010105_155 | Nicotine dependence symptom count | 1.000000e-06 |
| GCST012145_18 | Ferritin levels | 2.000000e-06 |
| GCST90002390_463 | Mean corpuscular hemoglobin | 3.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009262 | nicotine dependence symptom count |
| EFO:0004459 | ferritin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
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
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Estradiol | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Permethrin | increases 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 68