TTC21A
geneOn this page
Also known as STI2IFT139AThm2
Summary
TTC21A (tetratricopeptide repeat domain 21A, HGNC:30761) is a protein-coding gene on chromosome 3p22.2, encoding Tetratricopeptide repeat protein 21A (Q8NDW8). Intraflagellar transport (IFT)-associated protein required for spermatogenesis.
Involved in flagellated sperm motility and spermatid development. Predicted to be located in cilium. Predicted to be part of intraciliary transport particle A. Implicated in spermatogenic failure 37.
Source: NCBI Gene 199223 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 37 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 5
- Clinical variants (ClinVar): 272 total — 6 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001366900
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30761 |
| Approved symbol | TTC21A |
| Name | tetratricopeptide repeat domain 21A |
| Location | 3p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STI2, IFT139A, Thm2 |
| Ensembl gene | ENSG00000168026 |
| Ensembl biotype | protein_coding |
| OMIM | 611430 |
| Entrez | 199223 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 10 protein_coding, 8 protein_coding_CDS_not_defined, 6 retained_intron, 2 nonsense_mediated_decay
ENST00000425163, ENST00000430597, ENST00000431162, ENST00000431559, ENST00000440121, ENST00000459702, ENST00000460460, ENST00000465962, ENST00000466875, ENST00000471025, ENST00000472866, ENST00000473587, ENST00000479954, ENST00000481734, ENST00000490036, ENST00000490245, ENST00000493337, ENST00000493856, ENST00000683103, ENST00000881741, ENST00000881742, ENST00000881743, ENST00000881744, ENST00000916782, ENST00000956777, ENST00000956778
RefSeq mRNA: 4 — MANE Select: NM_001366900
NM_001105513, NM_001366899, NM_001366900, NM_145755
CCDS: CCDS43068, CCDS46800, CCDS93247
Canonical transcript exons
ENST00000683103 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001119495 | 39125332 | 39125532 |
| ENSE00001119497 | 39120997 | 39121189 |
| ENSE00001119513 | 39125063 | 39125160 |
| ENSE00001311384 | 39119922 | 39120020 |
| ENSE00001615254 | 39130701 | 39130839 |
| ENSE00001643383 | 39128717 | 39128932 |
| ENSE00001647240 | 39130992 | 39131095 |
| ENSE00001725173 | 39130248 | 39130358 |
| ENSE00001741806 | 39128331 | 39128488 |
| ENSE00001749916 | 39126261 | 39126390 |
| ENSE00001790734 | 39129072 | 39129310 |
| ENSE00002124623 | 39138711 | 39138900 |
| ENSE00003467762 | 39110851 | 39111017 |
| ENSE00003482110 | 39109085 | 39109214 |
| ENSE00003485220 | 39138556 | 39138623 |
| ENSE00003495550 | 39138267 | 39138387 |
| ENSE00003505015 | 39118069 | 39118153 |
| ENSE00003558085 | 39134218 | 39134328 |
| ENSE00003562127 | 39114585 | 39114742 |
| ENSE00003562775 | 39110029 | 39110139 |
| ENSE00003569876 | 39112458 | 39112580 |
| ENSE00003613351 | 39133052 | 39133240 |
| ENSE00003654996 | 39137195 | 39137387 |
| ENSE00003657292 | 39130079 | 39130151 |
| ENSE00003665177 | 39136357 | 39136507 |
| ENSE00003666870 | 39136899 | 39137060 |
| ENSE00003672313 | 39135093 | 39135174 |
| ENSE00003678584 | 39137486 | 39137710 |
| ENSE00003919730 | 39107680 | 39107864 |
Expression profiles
Bgee: expression breadth ubiquitous, 173 present calls, max score 98.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.7259 / max 368.5364, expressed in 1261 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36112 | 3.6186 | 1251 |
| 36115 | 0.0491 | 12 |
| 36113 | 0.0395 | 6 |
| 36114 | 0.0188 | 3 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.84 | gold quality |
| left testis | UBERON:0004533 | 97.95 | gold quality |
| right testis | UBERON:0004534 | 97.90 | gold quality |
| testis | UBERON:0000473 | 95.66 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.53 | gold quality |
| bronchus | UBERON:0002185 | 94.07 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.83 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.14 | gold quality |
| pituitary gland | UBERON:0000007 | 91.03 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.02 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.75 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.74 | silver quality |
| fallopian tube | UBERON:0003889 | 85.93 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.65 | gold quality |
| adult organism | UBERON:0007023 | 85.65 | gold quality |
| thyroid gland | UBERON:0002046 | 85.61 | gold quality |
| left uterine tube | UBERON:0001303 | 85.60 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.59 | gold quality |
| right lung | UBERON:0002167 | 85.18 | gold quality |
| right ovary | UBERON:0002118 | 85.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 85.08 | gold quality |
| endocervix | UBERON:0000458 | 84.96 | gold quality |
| left ovary | UBERON:0002119 | 84.81 | gold quality |
| body of uterus | UBERON:0009853 | 84.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.43 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.79 | gold quality |
| tibial nerve | UBERON:0001323 | 83.70 | gold quality |
| oviduct epithelium | UBERON:0004804 | 83.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.51 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
10 targeting TTC21A, 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-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-222-5P | 98.75 | 69.17 | 1242 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-4750-3P | 96.65 | 64.38 | 512 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
Literature-anchored findings (GeneRIF, showing 4)
- bi-allelic mutations in TTC21A can induce asthenoteratospermia with defects of the sperm flagella and head-tail conjunction (PMID:30929735)
- Increased TTC21A expression in lung adenocarcinoma tissues is significantly correlated with pathological stage, tumor status and lymph nodes. Up-regulated TTC21A expression, negative results of pathological stage and distant metastasis are independent prognostic factors for good prognosis. (PMID:31812070)
- Novel mutation in TTC21A triggers partial nonsense-mediated mRNA decay and causes male infertility with MMAF. (PMID:35920310)
- Identification of TTC21A as a Potential Prognostic Marker in Head and Neck Squamous Cell Carcinoma: In Silico Analysis. (PMID:38151293)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttc21a | ENSDARG00000116146 |
| mus_musculus | Ttc21a | ENSMUSG00000032514 |
| rattus_norvegicus | Ttc21a | ENSRNOG00000034089 |
| caenorhabditis_elegans | WBGENE00022696 |
Paralogs (1): TTC21B (ENSG00000123607)
Protein
Protein identifiers
Tetratricopeptide repeat protein 21A — Q8NDW8 (reviewed: Q8NDW8)
Alternative names: Stress-inducible protein 2
All UniProt accessions (4): A0A0B4J1Y2, Q8NDW8, A0A0C4DH51, A0A804HK20
UniProt curated annotations — full annotation on UniProt →
Function. Intraflagellar transport (IFT)-associated protein required for spermatogenesis. Required for sperm flagellar formation and intraflagellar transport.
Subunit / interactions. Interacts with IFT20. Interacts with IFT52. Interacts with IFT140. Interacts with CEP78; regulating IFT20 stability and localization.
Tissue specificity. Strongly expressed in testis.
Disease relevance. Spermatogenic failure 37 (SPGF37) [MIM:618429] An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TTC21 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NDW8-1 | 1 | yes |
| Q8NDW8-3 | 3 | |
| Q8NDW8-5 | 5 | |
| Q8NDW8-6 | 6 | |
| Q8NDW8-7 | 7 |
RefSeq proteins (4): NP_001098983, NP_001353828, NP_001353829, NP_665698 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR040364 | TTC21A/TTC21B | Family |
| IPR056832 | ARM_TT21_2nd | Domain |
| IPR056833 | ARM_TT21_N | Domain |
| IPR056834 | ARM_TT21_C | Domain |
| IPR056835 | ARM_TT21_5th | Domain |
| IPR056836 | ARM_TT21_4th | Domain |
Pfam: PF25058, PF25060, PF25062, PF25063, PF25064, PF25068
UniProt features (45 total): repeat 19, sequence variant 12, sequence conflict 8, splice variant 5, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NDW8-F1 | 81.32 | 0.03 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 94 (showing top):
GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_MALE_GAMETE_GENERATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, chr3p22, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CELL_PROJECTION_ORGANIZATION, LEIN_CHOROID_PLEXUS_MARKERS, GOCC_INTRACILIARY_TRANSPORT_PARTICLE, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN
GO Biological Process (6): spermatid development (GO:0007286), flagellated sperm motility (GO:0030317), intraciliary retrograde transport (GO:0035721), protein localization to cilium (GO:0061512), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cilium (GO:0005929), intraciliary transport particle A (GO:0030991)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intraciliary transport particle | 2 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| intraciliary transport | 1 |
| protein localization to organelle | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1078 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTC21A | CFAP43 | Q8NDM7 | 720 |
| TTC21A | TTC29 | Q8NA56 | 706 |
| TTC21A | FSIP2 | Q5CZC0 | 687 |
| TTC21A | ARMC2 | Q8NEN0 | 684 |
| TTC21A | SPEF2 | Q9C093 | 679 |
| TTC21A | QRICH2 | Q9H0J4 | 670 |
| TTC21A | DNAH1 | Q9P2D7 | 669 |
| TTC21A | CFAP44 | Q96MT7 | 649 |
| TTC21A | STIP1 | P31948 | 646 |
| TTC21A | CFAP69 | A5D8W1 | 646 |
| TTC21A | CFAP70 | Q5T0N1 | 635 |
| TTC21A | CFAP251 | Q8TBY9 | 634 |
| TTC21A | CFAP58 | Q5T655 | 613 |
| TTC21A | CEP135 | Q66GS9 | 587 |
| TTC21A | DNAH6 | Q9C0G6 | 567 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAAF19 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.530 |
| STEAP3 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.530 |
| BBS7 | TTC21A | psi-mi:“MI:0914”(association) | 0.510 |
| PDCD11 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTC21A | IFT140 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTC21A | IFT20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTC21A | IFT52 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STEAP3 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.000 |
| DNAAF19 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.000 |
| BBS7 | TTC21A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): TTC21A (Two-hybrid), TTC21A (Two-hybrid), TTC21A (Two-hybrid), TTC21A (Affinity Capture-MS), TTC21A (Affinity Capture-MS), TTC21A (Affinity Capture-MS), TTC21A (Affinity Capture-RNA), TTC21A (Affinity Capture-MS), TTC21A (Reconstituted Complex), TTC21A (Two-hybrid), TTC21A (Two-hybrid), TTC21A (Affinity Capture-RNA), TTC21A (Cross-Linking-MS (XL-MS)), TTC21A (Cross-Linking-MS (XL-MS)), SRRT (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A644F649, A0AVF1, A1Z8E9, A4III8, A8BS40, A8JA42, A8XBR9, B5X0I6, O17581, O42668, O74458, O76094, O94459, O94474, P11442, P19735, P25870, P29742, P33731, P34574, P41889, P49951, P49965, P53675, P89105, Q00610, Q03560, Q13099, Q16JL4, Q20255, Q29L58, Q4R7Z9, Q57ZL2, Q5CZ52, Q5PR66, Q5U2N8, Q61LA1, Q68FD5, Q6GKV1, Q6INC1
Diamond homologs: Q0HA38, Q6INC1, Q7Z4L5, Q8C0S4, Q8NDW8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
272 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 3 |
| Uncertain significance | 197 |
| Likely benign | 22 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3239652 | NM_001366900.1(TTC21A):c.3450+2del | Pathogenic |
| 627571 | NM_001366900.1(TTC21A):c.716+1G>A | Pathogenic |
| 627572 | NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter) | Pathogenic |
| 627573 | NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys) | Pathogenic |
| 627574 | NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer) | Pathogenic |
| 627575 | NM_001366900.1(TTC21A):c.3095+5G>T | Pathogenic |
| 2636901 | NM_001366900.1(TTC21A):c.3025_3043del (p.Leu1009fs) | Likely pathogenic |
| 3780759 | NM_001366900.1(TTC21A):c.1192-1G>T | Likely pathogenic |
| 4849360 | NM_001366900.1(TTC21A):c.2459-2A>T | Likely pathogenic |
SpliceAI
5271 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:39109211:GAAG:G | donor_gain | 1.0000 |
| 3:39109214:GGTAA:G | donor_loss | 1.0000 |
| 3:39109215:G:GC | donor_loss | 1.0000 |
| 3:39109216:T:G | donor_loss | 1.0000 |
| 3:39110023:TTGCA:T | acceptor_loss | 1.0000 |
| 3:39110024:TGCA:T | acceptor_loss | 1.0000 |
| 3:39110026:CAG:C | acceptor_gain | 1.0000 |
| 3:39110027:A:AG | acceptor_gain | 1.0000 |
| 3:39110027:AGA:A | acceptor_gain | 1.0000 |
| 3:39110028:G:GA | acceptor_gain | 1.0000 |
| 3:39110028:GA:G | acceptor_gain | 1.0000 |
| 3:39110028:GAG:G | acceptor_gain | 1.0000 |
| 3:39110028:GAGCA:G | acceptor_gain | 1.0000 |
| 3:39110834:C:CA | acceptor_gain | 1.0000 |
| 3:39110840:T:TA | acceptor_gain | 1.0000 |
| 3:39110841:G:A | acceptor_gain | 1.0000 |
| 3:39110846:TACAG:T | acceptor_loss | 1.0000 |
| 3:39110849:A:AG | acceptor_gain | 1.0000 |
| 3:39110850:G:GA | acceptor_gain | 1.0000 |
| 3:39110850:GACC:G | acceptor_gain | 1.0000 |
| 3:39111013:GAGAG:G | donor_gain | 1.0000 |
| 3:39111014:AGAG:A | donor_loss | 1.0000 |
| 3:39111015:GAG:G | donor_gain | 1.0000 |
| 3:39111016:AGGTA:A | donor_loss | 1.0000 |
| 3:39111017:GG:G | donor_loss | 1.0000 |
| 3:39111019:T:A | donor_loss | 1.0000 |
| 3:39112540:G:GT | donor_gain | 1.0000 |
| 3:39112548:G:GT | donor_gain | 1.0000 |
| 3:39112557:G:GT | donor_gain | 1.0000 |
| 3:39118154:G:GG | donor_gain | 1.0000 |
AlphaMissense
8683 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:39128750:G:C | A579P | 0.990 |
| 3:39129078:G:C | A642P | 0.990 |
| 3:39128786:G:C | A591P | 0.988 |
| 3:39128901:T:C | L629P | 0.988 |
| 3:39138294:G:C | G1242R | 0.987 |
| 3:39137636:G:C | A1208P | 0.985 |
| 3:39138568:C:A | A1277D | 0.984 |
| 3:39128799:T:C | L595P | 0.982 |
| 3:39129255:G:C | A701P | 0.981 |
| 3:39138295:G:A | G1242D | 0.981 |
| 3:39126369:G:C | A509P | 0.980 |
| 3:39130131:G:C | A737P | 0.979 |
| 3:39128751:C:A | A579D | 0.978 |
| 3:39138565:T:C | L1276P | 0.978 |
| 3:39136946:G:C | R1055P | 0.977 |
| 3:39138603:G:C | A1289P | 0.975 |
| 3:39138617:C:G | C1293W | 0.975 |
| 3:39138352:C:A | A1261D | 0.974 |
| 3:39128913:T:C | L633P | 0.973 |
| 3:39137552:G:C | A1180P | 0.973 |
| 3:39137556:G:C | R1181P | 0.973 |
| 3:39130126:G:A | G735D | 0.972 |
| 3:39137239:C:A | A1108D | 0.972 |
| 3:39137569:G:C | K1185N | 0.972 |
| 3:39137569:G:T | K1185N | 0.972 |
| 3:39137621:A:C | S1203R | 0.972 |
| 3:39137623:C:A | S1203R | 0.972 |
| 3:39137623:C:G | S1203R | 0.972 |
| 3:39138330:G:C | A1254P | 0.972 |
| 3:39138567:G:C | A1277P | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000004192 (3:39116649 T>A), RS1000035498 (3:39116430 T>C), RS1000081207 (3:39137988 G>C), RS1000125824 (3:39116586 C>T), RS1000172032 (3:39110173 A>G), RS1000355840 (3:39113724 A>G), RS1000507722 (3:39120111 C>G), RS1000544897 (3:39111269 AT>A,ATT), RS1000623691 (3:39120445 G>C), RS1000641961 (3:39118255 G>C), RS1000789862 (3:39126599 C>T), RS1000914642 (3:39111690 A>G,T), RS1000942962 (3:39133155 C>T), RS1001076440 (3:39126377 C>G,T), RS1001283147 (3:39123476 G>C)
Disease associations
OMIM: gene MIM:611430 | disease phenotypes: MIM:618429
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 37 | Strong | Autosomal recessive |
| non-syndromic male infertility due to sperm motility disorder | Supportive | Autosomal recessive |
Mondo (3): oligospermia (MONDO:0001913), spermatogenic failure 37 (MONDO:0032744), (MONDO:0017173)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000798 | Oligozoospermia |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002367_11 | Social communication problems | 9.000000e-09 |
| GCST002701_3 | Verbal declarative memory | 2.000000e-06 |
| GCST002701_39 | Verbal declarative memory | 3.000000e-06 |
| GCST003075_110 | Cognitive decline rate in late mild cognitive impairment | 3.000000e-07 |
| GCST003075_6 | Cognitive decline rate in late mild cognitive impairment | 5.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005427 | social communication impairment |
| EFO:0004874 | memory performance |
| EFO:0006806 | paragraph delayed recall measurement |
| EFO:0007710 | cognitive decline 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
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment, decreases expression | 3 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Benztropine | affects cotreatment, increases expression | 1 |
| Cuprizone | increases expression, affects cotreatment | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Zidovudine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | 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 37
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): oligospermia, spermatogenic failure 37