SHOC1
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Also known as FLJ32779Zip2MZIP2
Summary
SHOC1 (shortage in chiasmata 1, HGNC:26535) is a protein-coding gene on chromosome 9q31.3, encoding Protein shortage in chiasmata 1 ortholog (Q5VXU9). ATPase required during meiosis for the formation of crossover recombination intermediates.
Enables ATP hydrolysis activity and single-stranded DNA binding activity. Predicted to be involved in resolution of meiotic recombination intermediates and synaptonemal complex assembly. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. Implicated in spermatogenic failure 75.
Source: NCBI Gene 158401 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 51 total — 11 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 12
- MANE Select transcript:
NM_001378211
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26535 |
| Approved symbol | SHOC1 |
| Name | shortage in chiasmata 1 |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32779, Zip2, MZIP2 |
| Ensembl gene | ENSG00000165181 |
| Ensembl biotype | protein_coding |
| OMIM | 618038 |
| Entrez | 158401 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 nonsense_mediated_decay
ENST00000318737, ENST00000374283, ENST00000374287, ENST00000394777, ENST00000394779, ENST00000682074, ENST00000682571, ENST00000682672, ENST00000682961, ENST00000683745, ENST00000683944
RefSeq mRNA: 4 — MANE Select: NM_001378211
NM_001080551, NM_001378211, NM_001378212, NM_173521
CCDS: CCDS43863, CCDS6781, CCDS94459, CCDS94461
Canonical transcript exons
ENST00000682961 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001091029 | 111758084 | 111758195 |
| ENSE00001091030 | 111741476 | 111741570 |
| ENSE00001091033 | 111775791 | 111775975 |
| ENSE00001258747 | 111756325 | 111756478 |
| ENSE00001258760 | 111758695 | 111758848 |
| ENSE00001258829 | 111691551 | 111692511 |
| ENSE00001356321 | 111746234 | 111746342 |
| ENSE00001356327 | 111748092 | 111748199 |
| ENSE00001401653 | 111727633 | 111728049 |
| ENSE00001407892 | 111694231 | 111694362 |
| ENSE00001408357 | 111714445 | 111714623 |
| ENSE00001408674 | 111718184 | 111718288 |
| ENSE00001411679 | 111723792 | 111723911 |
| ENSE00001414748 | 111722409 | 111722585 |
| ENSE00001417162 | 111703881 | 111703992 |
| ENSE00001419328 | 111702105 | 111702226 |
| ENSE00001421899 | 111713100 | 111713172 |
| ENSE00001423081 | 111707855 | 111707924 |
| ENSE00001425196 | 111706568 | 111706746 |
| ENSE00001426710 | 111693799 | 111693948 |
| ENSE00001429135 | 111699954 | 111700047 |
| ENSE00001429818 | 111738280 | 111738522 |
| ENSE00001433900 | 111705247 | 111705364 |
| ENSE00003459517 | 111780930 | 111781017 |
| ENSE00003511654 | 111785912 | 111786035 |
| ENSE00003581377 | 111791374 | 111791454 |
| ENSE00003918875 | 111686171 | 111686870 |
| ENSE00003921412 | 111794900 | 111794937 |
Expression profiles
Bgee: expression breadth ubiquitous, 111 present calls, max score 87.33.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1060 / max 40.5868, expressed in 33 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102032 | 0.0460 | 27 |
| 102031 | 0.0352 | 6 |
| 102029 | 0.0137 | 3 |
| 102030 | 0.0112 | 4 |
Top tissues by expression
211 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 87.33 | silver quality |
| sperm | CL:0000019 | 84.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.17 | gold quality |
| right testis | UBERON:0004534 | 79.63 | gold quality |
| left testis | UBERON:0004533 | 79.11 | gold quality |
| testis | UBERON:0000473 | 78.82 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 75.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.67 | gold quality |
| metanephros cortex | UBERON:0010533 | 65.42 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 64.82 | gold quality |
| right adrenal gland | UBERON:0001233 | 62.82 | gold quality |
| adrenal gland | UBERON:0002369 | 62.63 | gold quality |
| adrenal cortex | UBERON:0001235 | 62.43 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 62.34 | gold quality |
| cortex of kidney | UBERON:0001225 | 62.27 | gold quality |
| tibialis anterior | UBERON:0001385 | 61.97 | silver quality |
| calcaneal tendon | UBERON:0003701 | 61.73 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 61.41 | gold quality |
| blood | UBERON:0000178 | 61.17 | gold quality |
| left adrenal gland | UBERON:0001234 | 61.12 | gold quality |
| kidney | UBERON:0002113 | 59.77 | gold quality |
| colonic epithelium | UBERON:0000397 | 59.55 | silver quality |
| ileal mucosa | UBERON:0000331 | 59.37 | silver quality |
| adult organism | UBERON:0007023 | 59.18 | gold quality |
| bronchial epithelial cell | CL:0002328 | 59.13 | gold quality |
| bronchus | UBERON:0002185 | 58.27 | gold quality |
| corpus callosum | UBERON:0002336 | 58.02 | gold quality |
| metanephros | UBERON:0000081 | 57.70 | gold quality |
| oviduct epithelium | UBERON:0004804 | 56.51 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 41.76 |
| E-ANND-3 | yes | 6.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting SHOC1, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-6849-5P | 99.64 | 66.00 | 352 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-190B-3P | 99.33 | 68.29 | 1382 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-3161 | 98.71 | 67.14 | 816 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-6828-3P | 96.06 | 67.61 | 1155 |
Literature-anchored findings (GeneRIF, showing 2)
- Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia. (PMID:32900840)
- Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice. (PMID:35485979)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Shoc1 | ENSMUSG00000038598 |
| rattus_norvegicus | Shoc1 | ENSRNOG00000060520 |
Protein
Protein identifiers
Protein shortage in chiasmata 1 ortholog — Q5VXU9 (reviewed: Q5VXU9)
Alternative names: Protein ZIP2 homolog
All UniProt accessions (8): A0A804HIH1, A0A804HJV9, A0A804HK82, A0A804HKR0, A0A804HL92, A0A804HLJ8, A6PVK7, Q5VXU9
UniProt curated annotations — full annotation on UniProt →
Function. ATPase required during meiosis for the formation of crossover recombination intermediates. Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures. Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA. Plays a key role in homologous recombination and crossing-over in meiotic prophase I in male and female germ cells. Required for proper synaptonemal complex assembly and homologous chromosome pairing. Requiref for recruitment TEX11 and MSH4 to recombination intermediates.
Subunit / interactions. Interacts with TEX11. Interacts with SPO16.
Subcellular location. Chromosome.
Disease relevance. Spermatogenic failure 75 (SPGF75) [MIM:619949] An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia resulting from maturation arrest at the spermatocyte stage. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the XPF family. Highly divergent.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VXU9-1 | 1 | yes |
| Q5VXU9-2 | 2 | |
| Q5VXU9-3 | 3 |
RefSeq proteins (4): NP_001074020, NP_001365140, NP_001365141, NP_775792 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039991 | SHOC1 | Family |
Pfam: PF17825
UniProt features (23 total): sequence variant 16, splice variant 4, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VXU9-F1 | 49.16 | 0.01 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 98 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_SYNAPTONEMAL_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_FISSION, USF_01, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, USF_02, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOMF_SINGLE_STRANDED_DNA_BINDING, GOBP_HOMOLOGOUS_CHROMOSOME_PAIRING_AT_MEIOSIS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, SENESE_HDAC3_TARGETS_DN
GO Biological Process (4): resolution of meiotic recombination intermediates (GO:0000712), synaptonemal complex assembly (GO:0007130), reciprocal meiotic recombination (GO:0007131), meiotic cell cycle (GO:0051321)
GO Molecular Function (4): single-stranded DNA binding (GO:0003697), ATP hydrolysis activity (GO:0016887), DNA binding (GO:0003677), hydrolase activity (GO:0016787)
GO Cellular Component (2): condensed nuclear chromosome (GO:0000794), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| reciprocal meiotic recombination | 1 |
| meiosis I cell cycle process | 1 |
| homologous chromosome pairing at meiosis | 1 |
| cellular component assembly | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| synaptonemal complex organization | 1 |
| meiosis I | 1 |
| reciprocal homologous recombination | 1 |
| meiotic cell cycle process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| DNA binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| nucleic acid binding | 1 |
| catalytic activity | 1 |
| nuclear chromosome | 1 |
| condensed chromosome | 1 |
| nucleus | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
286 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SHOC1 | TEX11 | Q8IYF3 | 786 |
| SHOC1 | MSH4 | O15457 | 757 |
| SHOC1 | HFM1 | A2PYH4 | 738 |
| SHOC1 | RNF212 | Q495C1 | 713 |
| SHOC1 | C1orf146 | Q5VVC0 | 666 |
| SHOC1 | SYCP1 | Q15431 | 595 |
| SHOC1 | MSH5 | O43196 | 584 |
| SHOC1 | ADAD2 | Q8NCV1 | 583 |
| SHOC1 | STAG3 | Q9UJ98 | 581 |
| SHOC1 | REC8 | O95072 | 575 |
| SHOC1 | SPO11 | Q9Y5K1 | 548 |
| SHOC1 | M1AP | Q8TC57 | 545 |
| SHOC1 | MCMDC2 | Q4G0Z9 | 542 |
| SHOC1 | RAD21L1 | Q9H4I0 | 537 |
| SHOC1 | MEIOB | Q8N635 | 532 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| maP3 | SHOC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A2AGB2, A2ALV5, A3KMW7, A6NM62, A8MT70, A9JRX0, D3Z987, P15975, P56716, P70347, Q0P5X5, Q0VET5, Q28FY7, Q2M2Z5, Q3MHT3, Q3U0P1, Q3U3V8, Q3UXL4, Q3V089, Q5SXH7, Q5T1N1, Q5T4T6, Q5VXU9, Q68CR7, Q6NZK5, Q6P2D8, Q7M6U3, Q7Z4H7, Q7Z572, Q7ZYI3, Q7ZZH7, Q80VP2, Q86T90, Q86YC2, Q8BG34, Q8BL06, Q8CCC3, Q8MJ03
Diamond homologs: A2ALV5, Q5VXU9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 11 |
| Likely pathogenic | 1 |
| Uncertain significance | 14 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (12)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1244232 | NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs) | Pathogenic |
| 1693563 | NM_001378211.1(SHOC1):c.989del (p.Leu330fs) | Pathogenic |
| 1693565 | NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs) | Pathogenic |
| 1693566 | NM_001378211.1(SHOC1):c.1386del (p.Leu464fs) | Pathogenic |
| 1693567 | NM_001378211.1(SHOC1):c.1656del (p.Asp553fs) | Pathogenic |
| 1693568 | NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr) | Pathogenic |
| 1693569 | NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His) | Pathogenic |
| 3061758 | NM_001378211.1(SHOC1):c.2131+2T>C | Pathogenic |
| 3061759 | NM_001378211.1(SHOC1):c.1543del (p.Ser515fs) | Pathogenic |
| 3061760 | NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter) | Pathogenic |
| 3061761 | NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs) | Pathogenic |
| 3780602 | NM_001378211.1(SHOC1):c.1785T>G (p.Tyr595Ter) | Likely pathogenic |
SpliceAI
3689 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:111693794:CTAA:C | donor_loss | 1.0000 |
| 9:111693795:TAACC:T | donor_loss | 1.0000 |
| 9:111693796:AACCT:A | donor_loss | 1.0000 |
| 9:111693798:CCT:C | donor_loss | 1.0000 |
| 9:111693945:CTTC:C | acceptor_gain | 1.0000 |
| 9:111693948:CCTAG:C | acceptor_loss | 1.0000 |
| 9:111693949:C:CC | acceptor_gain | 1.0000 |
| 9:111693949:CTAG:C | acceptor_loss | 1.0000 |
| 9:111693950:T:C | acceptor_loss | 1.0000 |
| 9:111695032:AATAT:A | donor_gain | 1.0000 |
| 9:111695035:AT:A | donor_gain | 1.0000 |
| 9:111702103:A:AC | donor_gain | 1.0000 |
| 9:111702104:C:CC | donor_gain | 1.0000 |
| 9:111702104:CT:C | donor_gain | 1.0000 |
| 9:111702149:T:C | donor_gain | 1.0000 |
| 9:111702154:A:AC | donor_gain | 1.0000 |
| 9:111702155:C:CC | donor_gain | 1.0000 |
| 9:111705241:ACTT:A | donor_loss | 1.0000 |
| 9:111705242:CTT:C | donor_loss | 1.0000 |
| 9:111705243:TTA:T | donor_loss | 1.0000 |
| 9:111705244:TA:T | donor_loss | 1.0000 |
| 9:111705245:A:AC | donor_gain | 1.0000 |
| 9:111705245:ACTT:A | donor_loss | 1.0000 |
| 9:111705246:C:CC | donor_gain | 1.0000 |
| 9:111706566:A:AC | donor_gain | 1.0000 |
| 9:111706567:C:CC | donor_gain | 1.0000 |
| 9:111706567:CTTT:C | donor_gain | 1.0000 |
| 9:111707781:A:C | donor_gain | 1.0000 |
| 9:111707784:T:TA | donor_gain | 1.0000 |
| 9:111707803:T:A | donor_gain | 1.0000 |
AlphaMissense
9976 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:111702174:A:G | L943P | 0.989 |
| 9:111706694:A:G | W807R | 0.985 |
| 9:111706694:A:T | W807R | 0.985 |
| 9:111693902:G:T | A1057D | 0.983 |
| 9:111693839:A:G | L1078P | 0.980 |
| 9:111693935:A:G | L1046S | 0.980 |
| 9:111694319:C:G | R1012P | 0.980 |
| 9:111693903:C:G | A1057P | 0.978 |
| 9:111700015:A:G | L977P | 0.978 |
| 9:111775915:A:C | S42R | 0.978 |
| 9:111775915:A:T | S42R | 0.978 |
| 9:111775917:T:G | S42R | 0.978 |
| 9:111722455:A:C | F631L | 0.976 |
| 9:111722455:A:T | F631L | 0.976 |
| 9:111722457:A:G | F631L | 0.976 |
| 9:111692507:A:G | F1093S | 0.974 |
| 9:111703895:C:G | A921P | 0.973 |
| 9:111714551:A:G | L706P | 0.972 |
| 9:111694310:G:T | A1015D | 0.971 |
| 9:111702142:A:G | W954R | 0.970 |
| 9:111702142:A:T | W954R | 0.970 |
| 9:111702145:A:G | C953R | 0.970 |
| 9:111706643:A:G | W824R | 0.970 |
| 9:111706643:A:T | W824R | 0.970 |
| 9:111718213:A:G | L672P | 0.970 |
| 9:111692506:A:C | F1093L | 0.969 |
| 9:111692506:A:T | F1093L | 0.969 |
| 9:111692508:A:G | F1093L | 0.969 |
| 9:111694311:C:G | A1015P | 0.969 |
| 9:111718237:A:G | L664P | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000040329 (9:111697093 C>A), RS1000081497 (9:111729886 C>A,T), RS1000106755 (9:111740785 T>G), RS1000137704 (9:111739875 A>T), RS1000191927 (9:111739542 A>G,T), RS1000193892 (9:111790835 C>T), RS1000196378 (9:111767909 T>A), RS1000233201 (9:111689133 C>T), RS1000281237 (9:111704429 C>G,T), RS1000301981 (9:111747475 T>G), RS1000359733 (9:111762184 C>T), RS1000362240 (9:111783624 C>G,T), RS1000372068 (9:111783358 C>A), RS1000500954 (9:111789729 A>G), RS1000533739 (9:111769675 G>C)
Disease associations
OMIM: gene MIM:618038 | disease phenotypes: MIM:619949
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure | Limited | Autosomal recessive |
Mondo (3): spermatogenic failure 75 (MONDO:0030984), male infertility (MONDO:0005372), spermatogenic failure (MONDO:0004983)
Orphanet (0):
HPO phenotypes
12 total (12 of 12 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0003251 | Male infertility |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0031039 | Spermatocyte maturation arrest |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003470_8 | Coronary artery disease | 1.000000e-09 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
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 |
|---|---|---|
| terbufos | increases methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Copper | affects binding, increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | decreases expression, increases reaction | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Parathion | increases methylation | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
125 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 |
| 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 |
| NCT00756561 | Not specified | COMPLETED | HOP-2A - Intratesticular Hormone Levels |
| NCT00961558 | Not specified | TERMINATED | Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy |
| NCT01075334 | Not specified | UNKNOWN | Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? |
| NCT01178463 | Not specified | UNKNOWN | Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia |
Related Atlas pages
- Associated diseases: spermatogenic failure 50
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility, spermatogenic failure, spermatogenic failure 75