TSPYL1
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Summary
TSPYL1 (TSPY like 1, HGNC:12382) is a protein-coding gene on chromosome 6q22.1, encoding Testis-specific Y-encoded-like protein 1 (Q9H0U9).
The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT).
Source: NCBI Gene 7259 — RefSeq curated summary.
At a glance
- Gene–disease (curated): sudden infant death-dysgenesis of the testes syndrome (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 5 total
- Phenotypes (HPO): 35
- MANE Select transcript:
NM_003309
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12382 |
| Approved symbol | TSPYL1 |
| Name | TSPY like 1 |
| Location | 6q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000189241 |
| Ensembl biotype | protein_coding |
| OMIM | 604714 |
| Entrez | 7259 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay
ENST00000368608, ENST00000652202
RefSeq mRNA: 1 — MANE Select: NM_003309
NM_003309
CCDS: CCDS34518
Canonical transcript exons
ENST00000368608 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001447547 | 116274858 | 116279930 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 99.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 55.7689 / max 2081.2741, expressed in 1817 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75255 | 50.1570 | 1816 |
| 75251 | 3.4091 | 1177 |
| 75254 | 0.8750 | 565 |
| 75252 | 0.6336 | 271 |
| 204170 | 0.4102 | 217 |
| 75256 | 0.2840 | 129 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 99.28 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.19 | gold quality |
| pons | UBERON:0000988 | 99.13 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.09 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.92 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.90 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.83 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.82 | gold quality |
| parietal lobe | UBERON:0001872 | 98.79 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.79 | gold quality |
| adult organism | UBERON:0007023 | 98.79 | gold quality |
| endothelial cell | CL:0000115 | 98.73 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.72 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.55 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.54 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 98.53 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.48 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.38 | gold quality |
| blood vessel layer | UBERON:0004797 | 98.36 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 98.29 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.26 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.26 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.19 | gold quality |
| renal medulla | UBERON:0000362 | 98.17 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.12 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.01 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.01 | gold quality |
| caput epididymis | UBERON:0004358 | 97.92 | gold quality |
| body of tongue | UBERON:0011876 | 97.91 | gold quality |
| penis | UBERON:0000989 | 97.89 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 615.04 |
| E-HCAD-35 | yes | 48.22 |
| E-GEOD-81608 | no | 3609.47 |
| E-MTAB-6524 | no | 118.09 |
| E-ENAD-27 | no | 14.77 |
| E-GEOD-83139 | no | 10.24 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
149 targeting TSPYL1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
Literature-anchored findings (GeneRIF, showing 7)
- The chromatin remodeling factor TSPYL1 had a very similar pattern of expression with an incremental increase in HPFH and decreased expression in deltabeta-thalassemia. (PMID:16952470)
- Mutations in TSPYL1 may contribute to anomalies of testicular development/function. (PMID:19463995)
- Mutations in the TSPYL1 gene do not seem to play a major role in the pathogenesis of idiopathic male infertility, and mutation screening of the TSPYL1 gene can currently not be recommended in routine diagnostics of idiopathic male infertility. (PMID:22137496)
- Results show that mutations and polymorphisms in the TSPYL1 gene were not associated with sudden infant death syndrome in a cohort of 165 deceased Swiss infants. (PMID:25449952)
- The expression of spermatogenic phenotypes of TSPY1 defects is independent of variations in TSPYL1 and TSPYL5 in the Han Chinese population. (PMID:28847364)
- Unravelling the disease mechanism for TSPYL1 deficiency. (PMID:33075815)
- TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2. (PMID:38588050)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspy | ENSDARG00000005015 |
| danio_rerio | nap1l4a | ENSDARG00000070560 |
| mus_musculus | Tspyl1 | ENSMUSG00000047514 |
| rattus_norvegicus | Tspyl1 | ENSRNOG00000000549 |
| drosophila_melanogaster | Set | FBGN0014879 |
| drosophila_melanogaster | Nap1 | FBGN0015268 |
| drosophila_melanogaster | CG3708 | FBGN0040345 |
| drosophila_melanogaster | mil | FBGN0267366 |
| caenorhabditis_elegans | WBGENE00005007 | |
| caenorhabditis_elegans | WBGENE00017075 |
Paralogs (19): SET (ENSG00000119335), TSPY2 (ENSG00000168757), NAP1L5 (ENSG00000177432), TSPYL6 (ENSG00000178021), TSPYL5 (ENSG00000180543), TSPYL2 (ENSG00000184205), NAP1L3 (ENSG00000186310), NAP1L2 (ENSG00000186462), NAP1L1 (ENSG00000187109), TSPYL4 (ENSG00000187189), NAP1L4 (ENSG00000205531), TSPY3 (ENSG00000228927), TSPY8 (ENSG00000229549), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY9 (ENSG00000238074), TSPY1 (ENSG00000258992), (ENSG00000293164)
Protein
Protein identifiers
Testis-specific Y-encoded-like protein 1 — Q9H0U9 (reviewed: Q9H0U9)
All UniProt accessions (1): Q9H0U9
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in testis, ovary, liver, spleen, brain, kidney, prostate, lung, liver, and heart.
Post-translational modifications. Ubiquitinated by the CRL2(APPBP2) complex, which recognizes the Arg-Xaa-Xaa-Gly sequence at the C-terminus, leading to its degradation.
Disease relevance. Sudden infant death with dysgenesis of the testes syndrome (SIDDT) [MIM:608800] Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the nucleosome assembly protein (NAP) family.
RefSeq proteins (1): NP_003300* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002164 | NAP | Family |
| IPR037231 | NAP-like_sf | Homologous_superfamily |
Pfam: PF00956
UniProt features (10 total): sequence variant 3, compositionally biased region 2, sequence conflict 2, chain 1, region of interest 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0U9-F1 | 62.62 | 0.34 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 156
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 221 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MORF_IL4, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_CHROMATIN_REMODELING, MODULE_114, GOMF_CHROMATIN_BINDING, GOCC_NUCLEOLUS, BLALOCK_ALZHEIMERS_DISEASE_DN, GOMF_HISTONE_BINDING, NUYTTEN_NIPP1_TARGETS_DN, MORF_PAX7, MORF_TNFRSF25, chr6q22
GO Biological Process (1): nucleosome assembly (GO:0006334)
GO Molecular Function (3): chromatin binding (GO:0003682), enzyme binding (GO:0019899), histone binding (GO:0042393)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| cellular anatomical structure | 2 |
| nuclear lumen | 2 |
| chromatin organization | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
716 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSPYL1 | SIRT1 | Q96EB6 | 456 |
| TSPYL1 | SCN1B | Q07699 | 428 |
| TSPYL1 | GABRD | O14764 | 423 |
| TSPYL1 | GABRG2 | P18507 | 408 |
| TSPYL1 | SCN1A | P35498 | 404 |
| TSPYL1 | NT5DC1 | Q5TFE4 | 391 |
| TSPYL1 | TMEM31 | Q5JXX7 | 377 |
| TSPYL1 | ADGRA3 | Q8IWK6 | 368 |
| TSPYL1 | PCDH18 | Q9HCL0 | 364 |
| TSPYL1 | DMRT1 | Q9Y5R6 | 355 |
| TSPYL1 | HSD17B3 | P37058 | 348 |
| TSPYL1 | TDRP | Q86YL5 | 336 |
| TSPYL1 | ADAD1 | Q96M93 | 322 |
| TSPYL1 | MAMLD1 | Q13495 | 322 |
| TSPYL1 | SCN2A | Q99250 | 318 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLX4 | ERCC1 | psi-mi:“MI:0914”(association) | 0.640 |
| TSPYL1 | PCM1 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA4 | MAGEB16 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| TSPYL1 | GPC3 | psi-mi:“MI:0914”(association) | 0.530 |
| NPTN | TNPO2 | psi-mi:“MI:0914”(association) | 0.530 |
| PSME3 | HTRA2 | psi-mi:“MI:0914”(association) | 0.530 |
| CAPN2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA4 | MAGEA8 | psi-mi:“MI:0914”(association) | 0.530 |
| KIF20A | NEURL4 | psi-mi:“MI:0914”(association) | 0.350 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZMYND8 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| PCM1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PSME3 | ZNF891 | psi-mi:“MI:0914”(association) | 0.350 |
| SET | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPYL1 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| SOX2 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): TSPYL1 (Affinity Capture-MS), TSPYL1 (Reconstituted Complex), TSPYL1 (Affinity Capture-MS), TSPYL1 (Affinity Capture-MS), TSPYL1 (Affinity Capture-MS), TSPYL1 (Affinity Capture-MS), NAP1L3 (Affinity Capture-MS), TSPYL2 (Affinity Capture-MS), LCA5 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), OSBPL3 (Affinity Capture-MS), SPAG5 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS)
ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63
Diamond homologs: A0A494C1R9, A2ZX50, A6NKD2, B8AEC1, B8B2R4, B8B4K9, B9FU45, F4JEI8, O19110, O59797, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0DME0, P53997, P78920, Q01105, Q01534, Q0P5N2, Q18240, Q5R5G8, Q5VND6, Q63945, Q69JW2, Q69ZB3, Q70Z17, Q70Z18, Q70Z19, Q7TQI8, Q86VY4, Q8N831, Q8VD63, Q94K07, Q9BE64, Q9CA59, Q9EQU5, Q9H0U9, Q9H2G4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 102 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of a pool of free 40S subunits | 8 | 13.2× | 2e-05 |
| Peptide chain elongation | 7 | 13.1× | 5e-05 |
| Viral mRNA Translation | 7 | 13.1× | 5e-05 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 7 | 12.9× | 5e-05 |
| Selenocysteine synthesis | 7 | 12.4× | 6e-05 |
| Eukaryotic Translation Termination | 7 | 12.4× | 6e-05 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 12.1× | 6e-05 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 7 | 12.1× | 6e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 6 | 15.2× | 6e-04 |
| cytoplasmic translation | 7 | 14.4× | 3e-04 |
| translation | 8 | 9.1× | 6e-04 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
5 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:116278691:C:A | acceptor_gain | 0.3600 |
| 6:116278684:C:CC | acceptor_gain | 0.2600 |
| 6:116279694:A:AC | donor_gain | 0.2400 |
| 6:116278682:G:GA | acceptor_gain | 0.2100 |
| 6:116278692:C:A | acceptor_gain | 0.2000 |
AlphaMissense
2857 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:116278693:A:G | W380R | 1.000 |
| 6:116278693:A:T | W380R | 1.000 |
| 6:116278762:A:G | W357R | 1.000 |
| 6:116278762:A:T | W357R | 1.000 |
| 6:116278817:C:A | K338N | 1.000 |
| 6:116278817:C:G | K338N | 1.000 |
| 6:116278839:A:G | F331S | 1.000 |
| 6:116278996:A:G | W279R | 1.000 |
| 6:116278996:A:T | W279R | 1.000 |
| 6:116278997:G:C | F278L | 1.000 |
| 6:116278997:G:T | F278L | 1.000 |
| 6:116278999:A:G | F278L | 1.000 |
| 6:116279028:C:A | R268M | 1.000 |
| 6:116278620:G:T | P404Q | 0.999 |
| 6:116278628:C:A | W401C | 0.999 |
| 6:116278628:C:G | W401C | 0.999 |
| 6:116278630:A:G | W401R | 0.999 |
| 6:116278630:A:T | W401R | 0.999 |
| 6:116278632:A:G | L400P | 0.999 |
| 6:116278644:A:T | I396N | 0.999 |
| 6:116278691:C:A | W380C | 0.999 |
| 6:116278691:C:G | W380C | 0.999 |
| 6:116278760:C:A | W357C | 0.999 |
| 6:116278760:C:G | W357C | 0.999 |
| 6:116278819:T:C | K338E | 0.999 |
| 6:116278832:G:C | N333K | 0.999 |
| 6:116278832:G:T | N333K | 0.999 |
| 6:116278833:T:A | N333I | 0.999 |
| 6:116278838:G:C | F331L | 0.999 |
| 6:116278838:G:T | F331L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000431105 (6:116280433 G>A), RS1000449847 (6:116275220 C>T), RS1000692317 (6:116281526 G>A), RS1001596711 (6:116280022 G>T), RS1001816012 (6:116281186 G>C), RS1001887930 (6:116281456 T>G), RS1002170539 (6:116278219 T>A), RS1002406462 (6:116274541 T>C), RS1002487042 (6:116278457 G>C), RS1002628118 (6:116277943 G>A,C), RS1002742356 (6:116274860 A>C), RS1002894600 (6:116274628 G>C), RS1004713062 (6:116279508 A>G), RS1004723005 (6:116279252 C>G,T), RS1005345588 (6:116276470 A>T)
Disease associations
OMIM: gene MIM:604714 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| sudden infant death-dysgenesis of the testes syndrome | Strong | Autosomal recessive |
Mondo (1): sudden infant death-dysgenesis of the testes syndrome (MONDO:0012124)
Orphanet (0):
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0000046 | Small scrotum |
| HP:0000062 | Ambiguous genitalia |
| HP:0000602 | Ophthalmoplegia |
| HP:0001265 | Hyporeflexia |
| HP:0001308 | Tongue fasciculations |
| HP:0001336 | Myoclonus |
| HP:0001510 | Growth delay |
| HP:0001522 | Death in infancy |
| HP:0001608 | Abnormality of the voice |
| HP:0001662 | Bradycardia |
| HP:0001695 | Cardiac arrest |
| HP:0001699 | Sudden death |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002045 | Hypothermia |
| HP:0002104 | Apnea |
| HP:0002267 | Exaggerated startle response |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0006543 | Cardiorespiratory arrest |
| HP:0008708 | Partial development of the penile shaft |
| HP:0008733 | Dysplastic testis |
| HP:0008736 | Hypoplasia of penis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0010307 | Stridor |
| HP:0010535 | Sleep apnea |
| HP:0011675 | Arrhythmia |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_333 | Refractive error | 2.000000e-36 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C563856 | Sudden Infant Death with Dysgenesis of the Testes Syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs3828743 | Efficacy | 3 | abiraterone;prednisolone | Prostatic Neoplasms |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3828743 | DSE, TSPYL1 | 3 | 4.50 | 1 | abiraterone;prednisolone |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| sodium arsenite | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| celastrol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | decreases expression, affects cotreatment | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: sudden infant death-dysgenesis of the testes syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sudden infant death-dysgenesis of the testes syndrome