MOV10L1
geneOn this page
Also known as DJ402G11.8DKFZp434B0717CHAMP
Summary
MOV10L1 (Mov10 like RNA helicase 1, HGNC:7201) is a protein-coding gene on chromosome 22q13.33, encoding RNA helicase Mov10l1 (Q9BXT6). ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity.
This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 54456 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 73 (Moderate, GenCC)
- GWAS associations: 7
- Clinical variants (ClinVar): 215 total — 3 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 11
- MANE Select transcript:
NM_018995
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7201 |
| Approved symbol | MOV10L1 |
| Name | Mov10 like RNA helicase 1 |
| Location | 22q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DJ402G11.8, DKFZp434B0717, CHAMP |
| Ensembl gene | ENSG00000073146 |
| Ensembl biotype | protein_coding |
| OMIM | 605794 |
| Entrez | 54456 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000262794, ENST00000354853, ENST00000395852, ENST00000395854, ENST00000395858, ENST00000419054, ENST00000434497, ENST00000475190, ENST00000540615
RefSeq mRNA: 4 — MANE Select: NM_018995
NM_001164104, NM_001164105, NM_001164106, NM_018995
CCDS: CCDS14084, CCDS54541, CCDS54542, CCDS54543
Canonical transcript exons
ENST00000262794 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001869377 | 50090006 | 50090185 |
| ENSE00003841515 | 50161368 | 50161687 |
| ENSE00004013878 | 50158057 | 50158206 |
| ENSE00004013879 | 50145689 | 50145810 |
| ENSE00004013880 | 50113648 | 50113788 |
| ENSE00004013881 | 50108136 | 50108248 |
| ENSE00004013882 | 50149615 | 50149714 |
| ENSE00004013883 | 50143043 | 50143221 |
| ENSE00004013884 | 50153045 | 50153218 |
| ENSE00004013885 | 50142081 | 50142189 |
| ENSE00004013886 | 50134007 | 50134065 |
| ENSE00004013887 | 50126202 | 50126272 |
| ENSE00004013888 | 50099443 | 50099602 |
| ENSE00004013889 | 50134530 | 50134630 |
| ENSE00004013890 | 50160688 | 50160825 |
| ENSE00004013891 | 50115114 | 50115246 |
| ENSE00004013892 | 50159678 | 50159785 |
| ENSE00004013893 | 50128416 | 50128507 |
| ENSE00004013894 | 50092001 | 50092185 |
| ENSE00004013895 | 50120502 | 50120616 |
| ENSE00004013896 | 50114381 | 50114622 |
| ENSE00004013897 | 50108657 | 50108844 |
| ENSE00004013898 | 50160964 | 50161055 |
| ENSE00004013899 | 50150735 | 50150899 |
| ENSE00004013900 | 50125392 | 50125569 |
| ENSE00004013901 | 50117157 | 50117351 |
| ENSE00004013902 | 50144097 | 50144243 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 93.22.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7194 / max 28.9734, expressed in 287 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192956 | 0.3193 | 202 |
| 192958 | 0.3000 | 128 |
| 192955 | 0.0436 | 13 |
| 192957 | 0.0388 | 17 |
| 192954 | 0.0178 | 7 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 93.22 | gold quality |
| left testis | UBERON:0004533 | 93.19 | gold quality |
| testis | UBERON:0000473 | 90.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.58 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.13 | gold quality |
| sperm | CL:0000019 | 84.21 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.72 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 71.81 | gold quality |
| buccal mucosa cell | CL:0002336 | 71.47 | silver quality |
| pancreatic ductal cell | CL:0002079 | 71.02 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 70.96 | gold quality |
| cerebellar cortex | UBERON:0002129 | 70.89 | gold quality |
| ascending aorta | UBERON:0001496 | 70.44 | gold quality |
| left ovary | UBERON:0002119 | 70.37 | gold quality |
| thoracic aorta | UBERON:0001515 | 70.26 | gold quality |
| cerebellum | UBERON:0002037 | 69.51 | gold quality |
| right ovary | UBERON:0002118 | 69.23 | gold quality |
| right frontal lobe | UBERON:0002810 | 69.17 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 68.36 | gold quality |
| kidney epithelium | UBERON:0004819 | 68.24 | gold quality |
| adult organism | UBERON:0007023 | 67.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 67.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 67.30 | gold quality |
| upper arm skin | UBERON:0004263 | 67.15 | gold quality |
| left uterine tube | UBERON:0001303 | 67.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 66.77 | gold quality |
| ovary | UBERON:0000992 | 66.68 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 66.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 66.18 | gold quality |
| body of uterus | UBERON:0009853 | 65.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.36 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NKX2-5
miRNA regulators (miRDB)
3 targeting MOV10L1, 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-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-604 | 93.13 | 64.42 | 299 |
Literature-anchored findings (GeneRIF, showing 1)
- Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility. (PMID:24817005)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | setx | ENSDARG00000022996 |
| mus_musculus | Mov10l1 | ENSMUSG00000015365 |
| rattus_norvegicus | Mov10l1 | ENSRNOG00000031093 |
| drosophila_melanogaster | CG6701 | FBGN0033889 |
| drosophila_melanogaster | Mov10 | FBGN0034187 |
| caenorhabditis_elegans | Y106G6D.5 | WBGENE00014965 |
| caenorhabditis_elegans | sosi-1 | WBGENE00016565 |
| caenorhabditis_elegans | eri-7 | WBGENE00016566 |
Paralogs (10): UPF1 (ENSG00000005007), AQR (ENSG00000021776), SETX (ENSG00000107290), ZNFX1 (ENSG00000124201), HELZ2 (ENSG00000130589), IGHMBP2 (ENSG00000132740), DNA2 (ENSG00000138346), MOV10 (ENSG00000155363), CT55 (ENSG00000169551), HELZ (ENSG00000198265)
Protein
Protein identifiers
RNA helicase Mov10l1 — Q9BXT6 (reviewed: Q9BXT6)
Alternative names: Moloney leukemia virus 10-like protein 1
All UniProt accessions (3): Q9BXT6, F2Z2H1, H7C1D5
UniProt curated annotations — full annotation on UniProt →
Function. ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5’-3’ RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins.
Subunit / interactions. Interacts with PIWIL1. Interacts with PIWIL2. Interacts with PIWIL4. Interacts with HSPA2. Interacts with PLD6.
Subcellular location. Cytoplasm.
Tissue specificity. Specifically expressed in testis.
Disease relevance. Spermatogenic failure 73 (SPGF73) [MIM:619878] An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia due to meiotic arrest. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the DNA2/NAM7 helicase family. SDE3 subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXT6-1 | 1 | yes |
| Q9BXT6-2 | 2 | |
| Q9BXT6-3 | 3 | |
| Q9BXT6-4 | 4 | |
| Q9BXT6-5 | 5 |
RefSeq proteins (4): NP_001157576, NP_001157577, NP_001157578, NP_061868* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041677 | DNA2/NAM7_AAA_11 | Domain |
| IPR041679 | DNA2/NAM7-like_C | Domain |
| IPR047187 | SF1_C_Upf1 | Domain |
| IPR049080 | MOV-10-like_beta-barrel | Domain |
Pfam: PF13086, PF13087, PF21634
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (32 total): sequence variant 10, splice variant 9, sequence conflict 4, region of interest 3, compositionally biased region 3, chain 1, short sequence motif 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXT6-F1 | 74.79 | 0.30 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 770–777
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5601884 | PIWI-interacting RNA (piRNA) biogenesis |
| R-HSA-211000 | Gene Silencing by RNA |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 115 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MALE_GAMETE_GENERATION, NIKOLSKY_BREAST_CANCER_22Q13_AMPLICON, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION, GOBP_ORGANELLE_FISSION, GOBP_MALE_MEIOSIS_I, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_PIRNA_PROCESSING, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, WEBER_METHYLATED_HCP_IN_SPERM_UP, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION
GO Biological Process (6): male meiosis I (GO:0007141), germ cell development (GO:0007281), spermatogenesis (GO:0007283), piRNA processing (GO:0034587), regulatory ncRNA-mediated post-transcriptional gene silencing (GO:0035194), transposable element silencing by piRNA-mediated DNA methylation (GO:0141196)
GO Molecular Function (8): magnesium ion binding (GO:0000287), RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), helicase activity (GO:0004386), hydrolase activity (GO:0016787)
GO Cellular Component (4): cytosol (GO:0005829), P granule (GO:0043186), pi-body (GO:0071546), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Gene Silencing by RNA | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| male gamete generation | 2 |
| developmental process involved in reproduction | 2 |
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| meiosis I | 1 |
| male meiotic nuclear division | 1 |
| meiotic cell cycle | 1 |
| gamete generation | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| cell development | 1 |
| regulatory ncRNA processing | 1 |
| post-transcriptional gene silencing | 1 |
| regulatory ncRNA-mediated gene silencing | 1 |
| transposable element silencing by heterochromatin formation | 1 |
| gene silencing by piRNA-directed DNA methylation | 1 |
| metal ion binding | 1 |
| nucleic acid binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| germ plasm | 1 |
| P granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MOV10L1 | PIWIL2 | Q8TC59 | 896 |
| MOV10L1 | PIWIL1 | Q96J94 | 883 |
| MOV10L1 | PLD6 | Q8N2A8 | 827 |
| MOV10L1 | TDRD9 | Q8NDG6 | 775 |
| MOV10L1 | TDRD1 | Q9BXT4 | 719 |
| MOV10L1 | TDRD5 | Q8NAT2 | 703 |
| MOV10L1 | PIWIL4 | Q7Z3Z4 | 677 |
| MOV10L1 | MAEL | Q96JY0 | 677 |
| MOV10L1 | TDRKH | Q9Y2W6 | 670 |
| MOV10L1 | GTSF1 | Q8WW33 | 667 |
| MOV10L1 | ASZ1 | Q8WWH4 | 656 |
| MOV10L1 | RNF17 | Q9BXT8 | 603 |
| MOV10L1 | HENMT1 | Q5T8I9 | 599 |
| MOV10L1 | FKBP6 | O75344 | 598 |
| MOV10L1 | DDX4 | Q9NQI0 | 589 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MOV10L1 | AGXT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| rep | PTCD3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): AASDHPPT (Co-fractionation), MOV10L1 (Proximity Label-MS), MOV10L1 (Affinity Capture-MS), AGXT2 (Affinity Capture-MS), MOV10L1 (Affinity Capture-MS), MOV10L1 (Protein-RNA), MOV10L1 (Protein-peptide), MOV10L1 (Co-fractionation)
ESM2 similar proteins: A0JPF9, A1A5Q7, A2RT67, A2RUS2, A4D126, A5PKL6, A6NCI4, A6QPR9, D4ACE5, E9PYK3, F1ND48, Q05AA6, Q09M05, Q13474, Q15061, Q32PJ3, Q3TTL0, Q3UMR0, Q3UVV9, Q3UY96, Q498D5, Q49MI3, Q4R6Y8, Q4U2V3, Q502W6, Q5F204, Q5JPI3, Q5M8J0, Q5REW9, Q5RL51, Q5XIJ6, Q6DJG6, Q6RI63, Q7TNH6, Q7TPQ3, Q80V94, Q8BSE0, Q8CEL2, Q8IZC4, Q8N392
Diamond homologs: B6SFA4, D3ZG52, E1BMP7, F1RCY6, K0E4D9, O76512, O94247, P30771, P39369, P51530, Q00416, Q0VGT4, Q54I89, Q5ZKG3, Q6ZQJ5, Q86AS0, Q86YA3, Q8GYD9, Q8QHA5, Q92355, Q92900, Q98TR3, Q9BXT6, Q9EPU0, Q9FJR0, Q9HEH1, Q9URU2, Q9VYS3, E9P860, E9QAM5, O74465, O94387, P32644, P38935, Q09820, Q57568, Q5ZKD7, Q60560, Q9BYK8, A0A1P8ASY1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
215 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 2 |
| Uncertain significance | 175 |
| Likely benign | 16 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1328947 | NM_018995.3(MOV10L1):c.743+5G>A | Pathogenic |
| 1344502 | NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs) | Pathogenic |
| 57944 | GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 | Pathogenic |
| 1344500 | NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile) | Likely pathogenic |
| 3024485 | NM_018995.3(MOV10L1):c.2179+3A>G | Likely pathogenic |
SpliceAI
5548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:50090152:G:GT | donor_gain | 1.0000 |
| 22:50090182:G:GT | donor_gain | 1.0000 |
| 22:50090183:A:T | donor_gain | 1.0000 |
| 22:50092184:GG:G | donor_gain | 1.0000 |
| 22:50092185:GG:G | donor_gain | 1.0000 |
| 22:50092186:G:GG | donor_gain | 1.0000 |
| 22:50092186:GT:G | donor_loss | 1.0000 |
| 22:50092187:T:A | donor_loss | 1.0000 |
| 22:50099588:A:T | donor_gain | 1.0000 |
| 22:50099603:G:GC | donor_loss | 1.0000 |
| 22:50099604:T:G | donor_loss | 1.0000 |
| 22:50108124:T:TA | acceptor_gain | 1.0000 |
| 22:50115166:G:GT | donor_gain | 1.0000 |
| 22:50115242:GGAAA:G | donor_gain | 1.0000 |
| 22:50115243:GAAA:G | donor_gain | 1.0000 |
| 22:50115243:GAAAG:G | donor_gain | 1.0000 |
| 22:50115244:A:T | donor_gain | 1.0000 |
| 22:50115247:G:GG | donor_gain | 1.0000 |
| 22:50117155:A:G | acceptor_gain | 1.0000 |
| 22:50143042:GTA:G | acceptor_gain | 1.0000 |
| 22:50144089:T:A | acceptor_gain | 1.0000 |
| 22:50144089:T:TA | acceptor_loss | 1.0000 |
| 22:50144092:TGAA:T | acceptor_loss | 1.0000 |
| 22:50144093:GAAG:G | acceptor_loss | 1.0000 |
| 22:50144094:AAG:A | acceptor_loss | 1.0000 |
| 22:50144096:G:GC | acceptor_loss | 1.0000 |
| 22:50144240:GGAG:G | donor_gain | 1.0000 |
| 22:50144241:GAGG:G | donor_gain | 1.0000 |
| 22:50144243:GGTGA:G | donor_loss | 1.0000 |
| 22:50144245:T:A | donor_loss | 1.0000 |
AlphaMissense
7940 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:50143172:G:A | G770E | 0.999 |
| 22:50149649:G:C | A888P | 0.999 |
| 22:50150751:A:G | D915G | 0.999 |
| 22:50125441:T:C | L540P | 0.998 |
| 22:50134021:G:C | R642P | 0.998 |
| 22:50143171:G:A | G770R | 0.998 |
| 22:50143171:G:C | G770R | 0.998 |
| 22:50143210:G:C | A783P | 0.998 |
| 22:50144215:G:C | R826P | 0.998 |
| 22:50149647:A:T | E887V | 0.998 |
| 22:50149650:C:A | A888D | 0.998 |
| 22:50149658:G:C | A891P | 0.998 |
| 22:50150748:G:A | G914E | 0.998 |
| 22:50150751:A:C | D915A | 0.998 |
| 22:50150751:A:T | D915V | 0.998 |
| 22:50150826:G:C | R940P | 0.998 |
| 22:50153065:C:A | N971K | 0.998 |
| 22:50153065:C:G | N971K | 0.998 |
| 22:50153108:T:C | F986L | 0.998 |
| 22:50153110:C:A | F986L | 0.998 |
| 22:50153110:C:G | F986L | 0.998 |
| 22:50160736:T:C | F1125L | 0.998 |
| 22:50160738:C:A | F1125L | 0.998 |
| 22:50160738:C:G | F1125L | 0.998 |
| 22:50160762:T:A | N1133K | 0.998 |
| 22:50160762:T:G | N1133K | 0.998 |
| 22:50160818:T:C | L1152P | 0.998 |
| 22:50143121:T:A | V753D | 0.997 |
| 22:50143181:G:A | G773D | 0.997 |
| 22:50144147:C:A | N803K | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000026658 (22:50119809 G>A), RS1000057140 (22:50150441 C>G,T), RS1000120304 (22:50121040 C>T), RS1000138946 (22:50152681 T>G), RS1000142987 (22:50154186 G>C), RS1000163636 (22:50099047 C>A,T), RS1000196349 (22:50153883 A>C), RS1000208560 (22:50159458 C>T), RS1000362338 (22:50158894 G>A), RS1000374033 (22:50104467 C>T), RS1000389436 (22:50139282 A>G), RS1000409928 (22:50131491 A>C), RS1000420063 (22:50153637 G>A), RS1000441784 (22:50139777 G>A), RS1000457194 (22:50097100 A>G)
Disease associations
OMIM: gene MIM:605794 | disease phenotypes: MIM:619878
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 73 | Moderate | Autosomal recessive |
Mondo (3): azoospermia (MONDO:0100459), spermatogenic failure 73 (MONDO:0030818), male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
11 total (11 of 11 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:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0031038 | Spermatogenesis maturation arrest |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_608 | Obesity-related traits | 1.000000e-06 |
| GCST002481_12 | Acne (severe) | 4.000000e-06 |
| GCST004616_180 | Platelet distribution width | 1.000000e-09 |
| GCST006101_10 | Cardiometabolic and hematological traits | 8.000000e-32 |
| GCST009259_10 | Amygdala volume | 5.000000e-06 |
| GCST012490_397 | Femur bone mineral density x serum urate levels interaction | 1.000000e-08 |
| GCST90002401_284 | Platelet distribution width | 4.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005190 | urinary nitrogen measurement |
| EFO:0007984 | platelet component distribution width |
| EFO:0004309 | platelet count |
| EFO:0004531 | urate measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053713 | Azoospermia | C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380 |
| 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
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
150 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02307994 | PHASE4 | UNKNOWN | Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH |
| 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 |
| NCT02275169 | PHASE3 | UNKNOWN | FSH Treatment for Non-obstructive Azoospermic Patients |
| 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 |
| NCT02544191 | PHASE2 | UNKNOWN | GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia |
| NCT03762967 | PHASE2 | UNKNOWN | Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility |
| 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 |
| NCT02041910 | PHASE1/PHASE2 | UNKNOWN | Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia |
| NCT00282477 | Not specified | UNKNOWN | Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls |
| NCT00484081 | Not specified | COMPLETED | Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT01375062 | Not specified | COMPLETED | Obtaining Undifferentiated Cells From Testis Biopsy |
| NCT01509482 | Not specified | COMPLETED | Insulin Resistance in Idiopathic Oligospermia and Azoospermia |
| NCT02008799 | Not specified | UNKNOWN | Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia |
| NCT02339272 | Not specified | COMPLETED | Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility |
| NCT02414295 | Not specified | COMPLETED | Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection |
| NCT02418832 | Not specified | RECRUITING | Testis Needle Aspiration of Sperm in Men With Azoospermia |
| NCT02617173 | Not specified | UNKNOWN | The Effect of Low Electrical Current on Testicular Spermatocyte Count |
| NCT02773498 | Not specified | TERMINATED | Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track |
| NCT03497728 | Not specified | TERMINATED | Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients |
| NCT04675164 | Not specified | COMPLETED | Laser Assisted Sperm Selection of Viable Immotile Testicular Sperm in Azoospermic Infertile Men |
| NCT05479474 | Not specified | RECRUITING | Platelet Rich Plasma Testis Treatment for Infertile Men |
| NCT05628987 | Not specified | RECRUITING | The Association of Gut Microbiota and Spermatogenic Dysfunction |
| NCT05866484 | Not specified | COMPLETED | Testicular Sperm Aspiration (TESA) vs. Microfluidic Sperm Separation (MSS) |
Related Atlas pages
- Associated diseases: spermatogenic failure 73
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): azoospermia, spermatogenic failure 73