PMFBP1
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Summary
PMFBP1 (polyamine modulated factor 1 binding protein 1, HGNC:17728) is a protein-coding gene on chromosome 16q22.2, encoding Polyamine-modulated factor 1-binding protein 1 (Q8TBY8). Required for normal spermatogenesis.
Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31.
Source: NCBI Gene 83449 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 31 (Strong, GenCC)
- GWAS associations: 33
- Clinical variants (ClinVar): 189 total — 7 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 8
- MANE Select transcript:
NM_031293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17728 |
| Approved symbol | PMFBP1 |
| Name | polyamine modulated factor 1 binding protein 1 |
| Location | 16q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000118557 |
| Ensembl biotype | protein_coding |
| OMIM | 618085 |
| Entrez | 83449 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000237353, ENST00000355636, ENST00000379073, ENST00000535461, ENST00000536211, ENST00000537392, ENST00000537465, ENST00000537792, ENST00000539172, ENST00000540440, ENST00000543746
RefSeq mRNA: 2 — MANE Select: NM_031293
NM_001160213, NM_031293
CCDS: CCDS32483
Canonical transcript exons
ENST00000237353 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001406571 | 72119851 | 72120089 |
| ENSE00002269650 | 72119097 | 72119354 |
| ENSE00002283499 | 72124767 | 72124934 |
| ENSE00003605950 | 72123546 | 72123649 |
| ENSE00003624612 | 72122914 | 72122988 |
| ENSE00004283239 | 72164764 | 72164916 |
| ENSE00004283240 | 72132748 | 72132991 |
| ENSE00004283241 | 72172054 | 72172155 |
| ENSE00004283242 | 72154211 | 72154459 |
| ENSE00004283243 | 72136693 | 72136819 |
| ENSE00004283244 | 72125238 | 72125405 |
| ENSE00004283245 | 72130533 | 72130722 |
| ENSE00004283246 | 72125968 | 72126132 |
| ENSE00004283247 | 72150608 | 72150829 |
| ENSE00004283248 | 72136448 | 72136605 |
| ENSE00004283249 | 72130213 | 72130357 |
| ENSE00004283250 | 72171197 | 72171268 |
| ENSE00004283251 | 72140412 | 72140582 |
| ENSE00004283252 | 72129066 | 72129233 |
| ENSE00004283253 | 72128657 | 72128794 |
| ENSE00004283254 | 72139289 | 72139399 |
Expression profiles
Bgee: expression breadth ubiquitous, 169 present calls, max score 95.48.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2171 / max 28.2717, expressed in 91 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158061 | 0.2016 | 86 |
| 158063 | 0.0155 | 4 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 95.48 | gold quality |
| male germ cell | CL:0000015 | 92.97 | gold quality |
| right testis | UBERON:0004534 | 85.75 | gold quality |
| left testis | UBERON:0004533 | 85.67 | gold quality |
| testis | UBERON:0000473 | 82.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.87 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.69 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 77.91 | gold quality |
| cauda epididymis | UBERON:0004360 | 77.27 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.09 | gold quality |
| diaphragm | UBERON:0001103 | 75.79 | gold quality |
| apex of heart | UBERON:0002098 | 74.62 | gold quality |
| body of pancreas | UBERON:0001150 | 74.37 | gold quality |
| granulocyte | CL:0000094 | 74.28 | gold quality |
| corpus epididymis | UBERON:0004359 | 73.10 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 72.03 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 71.64 | gold quality |
| transverse colon | UBERON:0001157 | 71.59 | gold quality |
| spleen | UBERON:0002106 | 71.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 71.15 | gold quality |
| triceps brachii | UBERON:0001509 | 71.01 | gold quality |
| cerebellar cortex | UBERON:0002129 | 70.98 | gold quality |
| rectum | UBERON:0001052 | 70.82 | gold quality |
| gluteal muscle | UBERON:0002000 | 70.74 | gold quality |
| sural nerve | UBERON:0015488 | 70.11 | gold quality |
| right lobe of liver | UBERON:0001114 | 69.98 | gold quality |
| ventricular zone | UBERON:0003053 | 69.66 | gold quality |
| esophagus mucosa | UBERON:0002469 | 69.45 | gold quality |
| small intestine | UBERON:0002108 | 69.31 | gold quality |
| cerebellum | UBERON:0002037 | 68.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting PMFBP1, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-3138 | 98.41 | 67.53 | 744 |
| HSA-MIR-218-2-3P | 98.08 | 67.21 | 601 |
| HSA-MIR-1266-5P | 97.71 | 66.92 | 1052 |
| HSA-MIR-3909 | 97.55 | 66.78 | 887 |
| HSA-MIR-3127-5P | 97.52 | 65.24 | 786 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-6847-3P | 96.50 | 67.30 | 582 |
| HSA-MIR-431-5P | 96.16 | 66.50 | 652 |
| HSA-MIR-3918 | 96.13 | 64.65 | 1300 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Literature-anchored findings (GeneRIF, showing 4)
- our data indicate that PMFBP1 is necessary for sperm morphology in both humans and mice, and that biallelic truncating mutations in PMFBP1 cause acephalic spermatozoa (PMID:30298696)
- Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa. (PMID:32285443)
- A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. (PMID:33484382)
- Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection. (PMID:34089195)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pmfbp1 | ENSDARG00000101917 |
| mus_musculus | Pmfbp1 | ENSMUSG00000031727 |
| rattus_norvegicus | Pmfbp1 | ENSRNOG00000014505 |
Protein
Protein identifiers
Polyamine-modulated factor 1-binding protein 1 — Q8TBY8 (reviewed: Q8TBY8)
All UniProt accessions (8): Q8TBY8, F5GXW3, F5GYR2, F5H0H9, F5H4F8, F5H5J2, F8W771, H0YFP6
UniProt curated annotations — full annotation on UniProt →
Function. Required for normal spermatogenesis. It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity. May also be involved in the general organization of cellular cytoskeleton.
Subcellular location. Cell projection. Cilium. Flagellum.
Disease relevance. Spermatogenic failure 31 (SPGF31) [MIM:618112] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBY8-2 | 2 | yes |
| Q8TBY8-1 | 1 | |
| Q8TBY8-3 | 3 | |
| Q8TBY8-4 | 4 |
RefSeq proteins (2): NP_001153685, NP_112583* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR037391 | PMF1-bd | Family |
UniProt features (24 total): sequence variant 11, coiled-coil region 6, splice variant 5, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBY8-F1 | 77.80 | 0.29 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 105 (showing top):
chr16q22, GOBP_MALE_GAMETE_GENERATION, MARTINEZ_RB1_TARGETS_UP, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, PITX2_Q2, GOCC_MOTILE_CILIUM, GOCC_SPERM_PRINCIPAL_PIECE, GOCC_SPERM_MIDPIECE, GOCC_CILIUM, YOSHIMURA_MAPK8_TARGETS_UP, BRUINS_UVC_RESPONSE_EARLY_LATE, GOCC_SPERM_HEAD, GOCC_9PLUS2_MOTILE_CILIUM, BCAT_GDS748_DN
GO Biological Process (6): spermatogenesis (GO:0007283), spermatid development (GO:0007286), intracellular protein localization (GO:0008104), gene expression (GO:0010467), regulation of protein localization (GO:0032880), protein-containing complex assembly (GO:0065003)
GO Molecular Function (0):
GO Cellular Component (7): cytoplasm (GO:0005737), sperm flagellum (GO:0036126), sperm head (GO:0061827), sperm head-tail coupling apparatus (GO:0120212), 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 | 4 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| macromolecule localization | 1 |
| macromolecule biosynthetic process | 1 |
| intracellular protein localization | 1 |
| regulation of localization | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| intracellular anatomical structure | 1 |
| 9+2 motile cilium | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
782 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PMFBP1 | SUN5 | Q8TC36 | 796 |
| PMFBP1 | TSGA10 | Q9BZW7 | 711 |
| PMFBP1 | SPATA6 | Q9NWH7 | 656 |
| PMFBP1 | PMF1 | Q6P1K2 | 626 |
| PMFBP1 | A0A087WT04 | A0A087WT04 | 621 |
| PMFBP1 | CEP112 | Q8N8E3 | 617 |
| PMFBP1 | SPATC1L | Q9H0A9 | 581 |
| PMFBP1 | HOOK1 | Q9UJC3 | 575 |
| PMFBP1 | BRDT | Q58F21 | 566 |
| PMFBP1 | MTUS1 | Q9ULD2 | 548 |
| PMFBP1 | ELMOD2 | Q8IZ81 | 538 |
| PMFBP1 | ENOX1 | Q8TC92 | 487 |
| PMFBP1 | SEC61A2 | Q9H9S3 | 484 |
| PMFBP1 | SPATA4 | Q8NEY3 | 457 |
| PMFBP1 | CETN1 | Q12798 | 453 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MKLN1 | HTRA2 | psi-mi:“MI:0914”(association) | 0.510 |
| PMFBP1 | SLC25A5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PMFBP1 | RPL15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| PMFBP1 | TACC1 | psi-mi:“MI:0914”(association) | 0.350 |
| PMFBP1 | AAMP | psi-mi:“MI:0915”(physical association) | 0.000 |
| PMFBP1 | MMADHC | psi-mi:“MI:0915”(physical association) | 0.000 |
| PMFBP1 | MKLN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PMFBP1 | proV2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PMFBP1 | recN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): MKLN1 (Affinity Capture-MS), MMADHC (Affinity Capture-MS), AAMP (Affinity Capture-MS), PMFBP1 (Proximity Label-MS), PMFBP1 (Proximity Label-MS), PMFBP1 (Affinity Capture-MS), CLTCL1 (Affinity Capture-MS), CAMK2A (Affinity Capture-MS), TACC1 (Affinity Capture-MS), SLC25A5 (Cross-Linking-MS (XL-MS)), SOX13 (Cross-Linking-MS (XL-MS)), PMFBP1 (Affinity Capture-RNA), EEF2 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A2AIV8, A6NI79, A6PWD2, A6QNP9, A7MC22, A8MYB1, A9ZSY0, B2RZ86, B9V5F5, D3ZNV2, F7DP49, I6L899, P0CAP1, P0DO97, Q05D60, Q08AV7, Q0IHN7, Q0KK56, Q0VG85, Q19UN5, Q32L59, Q4L180, Q5HZK9, Q5U3Z6, Q6AY08, Q6DCD4, Q6DD09, Q6DF48, Q6GLX3, Q7M6Y5, Q8BVC4, Q8BVM7, Q8K3K8, Q8N6Q1, Q8N998, Q8NF67, Q8TBY8, Q95JI9, Q95JK1, Q96Q35
Diamond homologs: Q8TBY8, Q9WVQ0, Q9Z221
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
189 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 2 |
| Uncertain significance | 139 |
| Likely benign | 20 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2580173 | NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter) | Pathogenic |
| 3239638 | NM_031293.3(PMFBP1):c.361C>T (p.Gln121Ter) | Pathogenic |
| 560417 | NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter) | Pathogenic |
| 560419 | NM_031293.3(PMFBP1):c.2092del (p.Ala698fs) | Pathogenic |
| 619946 | NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs) | Pathogenic |
| 619947 | NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter) | Pathogenic |
| 807468 | NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs) | Pathogenic |
| 2499679 | NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter) | Likely pathogenic |
| 3780446 | NM_031293.3(PMFBP1):c.13-1G>A | Likely pathogenic |
SpliceAI
2760 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:72122906:TGACT:T | donor_loss | 1.0000 |
| 16:72122907:GACTT:G | donor_loss | 1.0000 |
| 16:72122909:CT:C | donor_loss | 1.0000 |
| 16:72122910:TT:T | donor_loss | 1.0000 |
| 16:72122911:TA:T | donor_loss | 1.0000 |
| 16:72122912:A:AC | donor_gain | 1.0000 |
| 16:72122912:ACT:A | donor_gain | 1.0000 |
| 16:72122912:ACTC:A | donor_gain | 1.0000 |
| 16:72122913:C:CT | donor_gain | 1.0000 |
| 16:72122913:CT:C | donor_gain | 1.0000 |
| 16:72122913:CTC:C | donor_gain | 1.0000 |
| 16:72122913:CTCC:C | donor_gain | 1.0000 |
| 16:72122913:CTCCT:C | donor_gain | 1.0000 |
| 16:72122930:G:C | donor_gain | 1.0000 |
| 16:72124762:CCCA:C | donor_loss | 1.0000 |
| 16:72124763:CCA:C | donor_loss | 1.0000 |
| 16:72124764:CAC:C | donor_loss | 1.0000 |
| 16:72124765:A:AT | donor_loss | 1.0000 |
| 16:72124765:ACCT:A | donor_gain | 1.0000 |
| 16:72124766:CCTC:C | donor_gain | 1.0000 |
| 16:72124768:T:TA | donor_gain | 1.0000 |
| 16:72124773:ATCGT:A | donor_gain | 1.0000 |
| 16:72124777:T:TA | donor_gain | 1.0000 |
| 16:72124813:T:TA | donor_gain | 1.0000 |
| 16:72124823:C:CA | donor_gain | 1.0000 |
| 16:72125236:A:T | donor_loss | 1.0000 |
| 16:72125236:ACCT:A | donor_gain | 1.0000 |
| 16:72125237:CCTC:C | donor_gain | 1.0000 |
| 16:72125239:T:TA | donor_gain | 1.0000 |
| 16:72125247:ACTCT:A | donor_gain | 1.0000 |
AlphaMissense
6735 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:72136743:A:G | L332P | 0.990 |
| 16:72136731:A:G | L336P | 0.984 |
| 16:72136755:A:G | L328P | 0.978 |
| 16:72140443:A:G | L259P | 0.976 |
| 16:72124912:A:G | L815P | 0.975 |
| 16:72125269:A:G | L797P | 0.973 |
| 16:72125290:A:G | L790P | 0.969 |
| 16:72125987:A:G | L745P | 0.957 |
| 16:72136581:A:G | L357P | 0.954 |
| 16:72154220:T:A | K135N | 0.954 |
| 16:72154220:T:G | K135N | 0.954 |
| 16:72124923:A:C | F811L | 0.950 |
| 16:72124923:A:T | F811L | 0.950 |
| 16:72124925:A:G | F811L | 0.950 |
| 16:72150691:A:C | Y185D | 0.950 |
| 16:72126089:A:G | L711P | 0.949 |
| 16:72124883:A:G | W825R | 0.948 |
| 16:72124883:A:T | W825R | 0.948 |
| 16:72126081:C:G | A714P | 0.948 |
| 16:72140431:A:G | L263P | 0.946 |
| 16:72164864:A:G | L22P | 0.946 |
| 16:72139389:C:G | R273P | 0.945 |
| 16:72140440:C:G | R260P | 0.944 |
| 16:72154251:A:G | L125P | 0.942 |
| 16:72164873:A:G | L19P | 0.939 |
| 16:72125404:A:G | L752P | 0.935 |
| 16:72136587:A:G | L355P | 0.933 |
| 16:72136593:A:G | L353P | 0.933 |
| 16:72125979:C:G | A748P | 0.931 |
| 16:72120042:A:G | L939P | 0.930 |
dbSNP variants (sampled 300 via entrez): RS1000054943 (16:72247058 C>G,T), RS1000105982 (16:72140464 T>A), RS1000108402 (16:72229300 G>C), RS1000110546 (16:72247433 G>C), RS1000124637 (16:72190951 G>T), RS1000141569 (16:72236301 T>C), RS1000179070 (16:72218686 T>C), RS1000249740 (16:72212726 G>C), RS1000259023 (16:72143935 G>C), RS1000289533 (16:72223627 A>G), RS1000309919 (16:72144256 A>G), RS1000329990 (16:72185314 G>A,T), RS1000337368 (16:72137420 A>G), RS1000362058 (16:72223847 A>G), RS1000377474 (16:72143809 G>A,C)
Disease associations
OMIM: gene MIM:618085 | disease phenotypes: MIM:618112
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 31 | Strong | Autosomal recessive |
Mondo (2): spermatogenic failure 31 (MONDO:0020852), oligospermia (MONDO:0001913)
Orphanet (0):
HPO phenotypes
8 total (8 of 8 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000798 | Oligozoospermia |
| HP:0002916 | Abnormality of chromosome segregation |
| HP:0003251 | Male infertility |
| HP:0008226 | Androgen insufficiency |
| HP:0012207 | Reduced sperm motility |
| HP:0012867 | Abnormal sperm mid-piece morphology |
| HP:0012869 | Acephalic spermatozoa |
GWAS associations
33 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001276_4 | Liver enzyme levels (alkaline phosphatase) | 5.000000e-09 |
| GCST004103_2 | Body mass index (change over time) in cancer or chronic obstructive pulmonary disease | 8.000000e-06 |
| GCST004106_1 | Body mass index (change over time) in cancer | 5.000000e-06 |
| GCST005839_18 | Depression | 3.000000e-08 |
| GCST006483_40 | Lung function (FVC) | 6.000000e-10 |
| GCST006483_41 | Lung function (FVC) | 8.000000e-06 |
| GCST007323_64 | Risk-taking tendency (4-domain principal component model) | 2.000000e-12 |
| GCST007335_28 | Age at first sexual intercourse | 5.000000e-09 |
| GCST007565_159 | Morning person | 3.000000e-19 |
| GCST007565_48 | Morning person | 3.000000e-15 |
| GCST007576_25 | Chronotype | 3.000000e-19 |
| GCST008037_20 | Low density lipoprotein cholesterol levels | 1.000000e-06 |
| GCST008037_46 | Low density lipoprotein cholesterol levels | 1.000000e-09 |
| GCST008045_10 | Total cholesterol levels | 9.000000e-10 |
| GCST008045_36 | Total cholesterol levels | 3.000000e-07 |
| GCST008363_127 | Offspring birth weight | 7.000000e-09 |
| GCST008757_16 | Alcohol consumption | 2.000000e-12 |
| GCST008811_7 | Alcohol consumption (drinks per week) | 2.000000e-08 |
| GCST009240_400 | Serum metabolite levels (CMS) | 4.000000e-10 |
| GCST009600_70 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 3.000000e-09 |
| GCST009652_28 | Serum alkaline phosphatase levels | 5.000000e-13 |
| GCST010002_114 | Refractive error | 4.000000e-10 |
| GCST010083_65 | Hemoglobin levels | 7.000000e-09 |
| GCST010241_420 | Apolipoprotein A1 levels | 1.000000e-12 |
| GCST010244_412 | Triglyceride levels | 5.000000e-10 |
| GCST010245_131 | LDL cholesterol levels | 8.000000e-25 |
| GCST010988_48 | Adult body size | 4.000000e-10 |
| GCST90002396_595 | Mean reticulocyte volume | 2.000000e-11 |
| GCST90011898_46 | Alanine aminotransferase levels | 3.000000e-16 |
| GCST90011900_128 | Serum alkaline phosphatase levels | 1.000000e-28 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0005937 | longitudinal BMI measurement |
| EFO:0004312 | vital capacity |
| EFO:0008579 | risk-taking behaviour |
| EFO:0009749 | age at first sexual intercourse measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009845 | Oligospermia | C12.100.500.430.508; C12.100.750.700.508; C12.200.294.430.508 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
Clinical trials (associated diseases)
26 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 |
| NCT05320536 | PHASE4 | UNKNOWN | A Clinical Study of Gulingji Capsule in the Treatment of Idiopathic Oligospermia, Asthenia, and Teratozoospermia |
| NCT06260007 | PHASE4 | RECRUITING | Efficacy and Safety Study of Products Based on Tribulus Terrestris, L. in Men With Oligospermia |
| NCT00440180 | PHASE3 | TERMINATED | Aromatase Inhibitors in the Treatment of Male Infertility |
| NCT01409837 | PHASE2 | COMPLETED | The Effect and Safety of Lisinopril in Non-hypertensive Men With Infertility From Low Sperm Count |
| NCT02234206 | PHASE2 | COMPLETED | A Clinical Trial to Study the Safety and Efficacy of Chandrakanthi Choornam in Patients With Low Sperm Count |
| NCT07481370 | PHASE2 | ENROLLING_BY_INVITATION | Isotretinoin vs hCG for Male Infertility Due to Low or Absent Sperm |
| NCT05158114 | PHASE1 | WITHDRAWN | Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for Testicular Injury and Oligospermia |
| NCT02063256 | PHASE2/PHASE3 | UNKNOWN | 7 NUTS Study. Diet Modification and Male Fertility. |
| NCT06869863 | PHASE1/PHASE2 | RECRUITING | Study of Tolerability, Safety, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of the Medicinal Product MediReg® |
| NCT00479960 | EARLY_PHASE1 | UNKNOWN | A Preliminary Study on Effect of Omega-3 on Human Sperm |
| NCT06342856 | EARLY_PHASE1 | UNKNOWN | Evaluation of Treatment With Coenzyme Q10 and L-Carnitine on Semen Parameters in Infertile Men With Idiopathic Oligoasthenoteratospermia |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT01239186 | Not specified | COMPLETED | Identification and Characterization of the Methylation Abnormalities on Whole Genome Among Infertile Men |
| NCT01509482 | Not specified | COMPLETED | Insulin Resistance in Idiopathic Oligospermia and Azoospermia |
| NCT01520584 | Not specified | UNKNOWN | Supplement Intake in Infertile Men;the Effect on Sperm Parameters,Fertilization Rate and Embryo Quality |
| NCT01828710 | Not specified | COMPLETED | Myo-inositol on Human Semen Parameters |
| NCT01856361 | Not specified | TERMINATED | Ramipril for the Treatment of Oligospermia |
| NCT02155179 | Not specified | COMPLETED | Sperm Pathology Samples and Morphokinetics |
| NCT03898752 | Not specified | COMPLETED | Is Oxidative Stress in Semen Reduced by Lifestyle Intervention |
| NCT04349345 | Not specified | COMPLETED | Seminal Fluid’s Changes Over 20 Years |
| NCT04795440 | Not specified | COMPLETED | Comparison of ICSI Outcomes in Cycles Using Testicular and Ejaculate Sperm From Couples With High SDF |
| NCT05506722 | Not specified | UNKNOWN | Using of Testes Shocker in Improving the Spermatogenesis and Sperms Activity |
| NCT05842239 | Not specified | RECRUITING | Hyperbaric Oxygen Therapy for Men Suffering From Infertility Due to Oligospermia. |
| NCT06202469 | Not specified | COMPLETED | Creatine and Ubiquinol for Sperm Quality |
| NCT07357701 | Not specified | RECRUITING | Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI) |
Related Atlas pages
- Associated diseases: spermatogenic failure 31
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, obsessive-compulsive disorder, oligospermia, spermatogenic failure 31