TSGA10
gene geneOn this page
Also known as CEP4LCT79
Summary
TSGA10 (testis specific 10, HGNC:14927) is a protein-coding gene on chromosome 2q11.2, encoding Testis-specific gene 10 protein (Q9BZW7). Plays a role in spermatogenesis.
Predicted to enable structural molecule activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within cell projection assembly. Predicted to be located in neuron projection; sperm fibrous sheath; and sperm principal piece. Predicted to be active in motile cilium. Implicated in spermatogenic failure 26.
Source: NCBI Gene 80705 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 26 (Limited, GenCC)
- GWAS associations: 6
- Clinical variants (ClinVar): 116 total — 1 pathogenic
- Phenotypes (HPO): 4
- MANE Select transcript:
NM_025244
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14927 |
| Approved symbol | TSGA10 |
| Name | testis specific 10 |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CEP4L, CT79 |
| Ensembl gene | ENSG00000135951 |
| Ensembl biotype | protein_coding |
| OMIM | 607166 |
| Entrez | 80705 |
Gene structure
Transcript identifiers
Ensembl transcripts: 45 — 32 protein_coding, 11 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000355053, ENST00000393482, ENST00000393483, ENST00000409564, ENST00000410001, ENST00000462782, ENST00000464459, ENST00000465216, ENST00000471174, ENST00000476849, ENST00000478090, ENST00000483914, ENST00000488960, ENST00000489348, ENST00000489546, ENST00000489926, ENST00000494483, ENST00000498097, ENST00000674128, ENST00000851767, ENST00000851768, ENST00000851769, ENST00000851770, ENST00000851771, ENST00000851772, ENST00000851773, ENST00000851774, ENST00000851775, ENST00000851776, ENST00000851777, ENST00000851778, ENST00000851779, ENST00000851780, ENST00000917866, ENST00000917867, ENST00000917868, ENST00000970974, ENST00000970975, ENST00000970976, ENST00000970977, ENST00000970978, ENST00000970979, ENST00000970980, ENST00000970981, ENST00000970982
RefSeq mRNA: 5 — MANE Select: NM_025244
NM_001349012, NM_001349013, NM_001349014, NM_025244, NM_182911
CCDS: CCDS2037
Canonical transcript exons
ENST00000393483 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000921822 | 99020280 | 99020482 |
| ENSE00001200168 | 99109389 | 99109512 |
| ENSE00001372701 | 99118551 | 99118686 |
| ENSE00001381394 | 99110850 | 99110915 |
| ENSE00001384554 | 99127048 | 99127176 |
| ENSE00001390858 | 99117544 | 99117759 |
| ENSE00001515447 | 98997261 | 98998221 |
| ENSE00001871956 | 99154693 | 99154942 |
| ENSE00003485382 | 99073018 | 99073073 |
| ENSE00003536451 | 99064939 | 99065124 |
| ENSE00003545025 | 99103967 | 99104118 |
| ENSE00003576451 | 99035230 | 99035439 |
| ENSE00003582893 | 99068888 | 99068998 |
| ENSE00003585997 | 99108833 | 99108991 |
| ENSE00003606020 | 99105359 | 99105436 |
| ENSE00003606612 | 99071706 | 99071874 |
| ENSE00003610547 | 99105527 | 99105697 |
| ENSE00003633909 | 99018536 | 99018640 |
| ENSE00003666833 | 99081282 | 99081397 |
| ENSE00003680765 | 99078659 | 99078813 |
| ENSE00003787176 | 99018200 | 99018349 |
Expression profiles
Bgee: expression breadth ubiquitous, 193 present calls, max score 98.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8417 / max 108.5483, expressed in 1466 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29870 | 1.5894 | 809 |
| 29875 | 1.1080 | 636 |
| 29874 | 1.1003 | 585 |
| 29869 | 0.9121 | 489 |
| 29876 | 0.8305 | 459 |
| 29873 | 0.1479 | 61 |
| 29872 | 0.1054 | 41 |
| 29871 | 0.0481 | 20 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.37 | gold quality |
| right uterine tube | UBERON:0001302 | 96.27 | gold quality |
| male germ cell | CL:0000015 | 96.17 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.77 | gold quality |
| left testis | UBERON:0004533 | 94.62 | gold quality |
| right testis | UBERON:0004534 | 94.04 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 93.54 | gold quality |
| testis | UBERON:0000473 | 93.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.65 | gold quality |
| bronchus | UBERON:0002185 | 92.05 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.77 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.75 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.39 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 85.63 | gold quality |
| pituitary gland | UBERON:0000007 | 84.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.97 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.61 | gold quality |
| thyroid gland | UBERON:0002046 | 83.35 | gold quality |
| secondary oocyte | CL:0000655 | 83.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.36 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.16 | gold quality |
| corpus callosum | UBERON:0002336 | 81.97 | gold quality |
| body of pancreas | UBERON:0001150 | 80.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 80.70 | gold quality |
| cerebellar cortex | UBERON:0002129 | 80.57 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.49 | gold quality |
| spinal cord | UBERON:0002240 | 79.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
80 targeting TSGA10, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
Literature-anchored findings (GeneRIF, showing 18)
- over-expressed in 4 of 20 hepatocellular carcinomas (HCC), 1 of 20 colon cancers, 7 of 20 ovarian cancers, 3 of 20 prostate cancers, 1 of 21 malignant melanomas, and 8 of 21 bladder cancers (PMID:15107545)
- The RT-PCR of TSGA10 expression may help in detection of residual clonal cells leading to early diagnosis and better prognostic qualification of the acute lymphoblastic leukemia. (PMID:16406020)
- TSGA10 is target of immune reactions in Autoimmune polyendocrine syndrome type 1 (APS1). (PMID:18000009)
- TSGA10 could influence the function of antigen presenting cells via its interaction with cytoskeletal proteins such as vimentin (PMID:20797700)
- TSGA10 should be considered as an autoantigen in a subset of autoimmune polyendocrine syndrome type 1 patients and also in a minority of systemic lupus erythematosus patients (PMID:21198756)
- Report role for mir-577/TSGA10 axis in regulation esophageal squamous cell carcinoma progression. (PMID:24294352)
- Overexpression of TSGA10 would induce disruption of HIF-1alpha axis and exert potent inhibitory effects on tumor angiogenesis and metastasis. (PMID:26573430)
- TSGA10 tends to express variants with shorter 5’UTR. (PMID:28739310)
- we speculate that the presence of rare sequence variants within TSGA10 may be associated with acephalic spermatozoa in humans (PMID:28905369)
- Results show that TSGA10 is directly regulated by mir-23a which targeted the 3’UTR of mir-23a to regulate angiogenesis. (PMID:29520105)
- This study showed the role of Lactobacilli in down-regulation of TSGA10, AURKC, OIP5 and AKAP4 genes. Such expression change might be involved in the anticancer effects of these Lactobacilli. The underlying mechanisms of these observations are not clear but epigenetic modulatory mechanisms may participate in this process. (PMID:30545223)
- the current study showed that TSGA10 could be considered as a tumor suppressor in acute myeloid leukemia (PMID:30638859)
- Overexpression of TSGA10, as a tumor suppressor gene, in endothelial cells resulted in decreased proliferation, migration and therefore, angiogenic activity of HUVECs and may involved HIF2a binding. (PMID:31704243)
- Hypoxia-induced microRNA-10b-3p promotes esophageal squamous cell carcinoma growth and metastasis by targeting TSGA10. (PMID:31772141)
- TSGA10 overexpression could decrease the metastatic and metabolic activity of cancer cells through its inhibitory effect on HIF-1 activity. Therefore, TSGA10 could be considered in the research for therapeutic candidates in cancer. (PMID:32086108)
- Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa. (PMID:32285443)
- TSGA10 as a Potential Key Factor in the Process of Spermatid Differentiation/Maturation: Deciphering Its Association with Autophagy Pathway. (PMID:34232471)
- Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10. (PMID:34409526)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tsga10 | ENSDARG00000052512 |
| mus_musculus | Tsga10 | ENSMUSG00000060771 |
| rattus_norvegicus | Tsga10 | ENSRNOG00000058681 |
Paralogs (4): CROCC (ENSG00000058453), CEP250 (ENSG00000126001), CEP135 (ENSG00000174799), CROCC2 (ENSG00000226321)
Protein
Protein identifiers
Testis-specific gene 10 protein — Q9BZW7 (reviewed: Q9BZW7)
Alternative names: Testis development protein NYD-SP7
All UniProt accessions (5): A0A218MIY9, Q9BZW7, A0A669KBL0, B8ZZZ9, F8WA32
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in spermatogenesis. When overexpressed, prevents nuclear localization of HIF1A.
Subunit / interactions. Interacts with HIF1A.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Tissue specificity. Expressed in the testis, in spermatozoa (at protein level). Expressed in actively dividing fetal tissues, including sternum, intestine, limb, kidney and stomach.
Post-translational modifications. Processed into N-terminal 27-kDa and C-terminal 55-kDa fragments.
Disease relevance. Spermatogenic failure 26 (SPGF26) [MIM:617961] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in acephalic spermatozoa. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the CEP135/TSGA10 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZW7-1 | 1 | yes |
| Q9BZW7-2 | 2 |
RefSeq proteins (5): NP_001335941, NP_001335942, NP_001335943, NP_079520, NP_878915 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR051877 | Centriole_BasalBody_StrucProt | Family |
UniProt features (13 total): sequence conflict 4, region of interest 2, compositionally biased region 2, modified residue 2, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZW7-F1 | 81.70 | 0.56 |
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 (2): 163, 688
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 166 (showing top):
GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, WEBER_METHYLATED_LCP_IN_FIBROBLAST_DN, NKX22_01, GFI1_01, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_NEURON_PROJECTION, CONRAD_GERMLINE_STEM_CELL, RFX1_02, CDPCR3HD_01, GOBP_CELL_PROJECTION_ORGANIZATION, WALLACE_PROSTATE_CANCER_RACE_DN, TGGAAA_NFAT_Q4_01
GO Biological Process (2): spermatogenesis (GO:0007283), cell projection assembly (GO:0030031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), centriole (GO:0005814), motile cilium (GO:0031514), sperm fibrous sheath (GO:0035686), neuron projection (GO:0043005), sperm principal piece (GO:0097228), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membraneless organelle | 2 |
| sperm flagellum | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular component assembly | 1 |
| cell projection organization | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| microtubule organizing center | 1 |
| cilium | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1201 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TSGA10 | PMFBP1 | Q8TBY8 | 711 |
| TSGA10 | SUN5 | Q8TC36 | 691 |
| TSGA10 | BRDT | Q58F21 | 601 |
| TSGA10 | CEP112 | Q8N8E3 | 582 |
| TSGA10 | ODF4 | Q2M2E3 | 553 |
| TSGA10 | AKAP3 | O75969 | 535 |
| TSGA10 | HMGN5 | P82970 | 522 |
| TSGA10 | HOOK1 | Q9UJC3 | 491 |
| TSGA10 | SPATC1L | Q9H0A9 | 489 |
| TSGA10 | ACTG1 | P02571 | 484 |
| TSGA10 | CABYR | O75952 | 478 |
| TSGA10 | SPA17 | Q15506 | 477 |
| TSGA10 | ROPN1 | Q9HAT0 | 466 |
| TSGA10 | SOX30 | O94993 | 466 |
| TSGA10 | AKAP4 | Q5JQC9 | 451 |
IntAct
259 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRPF31 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSGA10 | CDC73 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CDC73 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSGA10 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSGA10 | CEP44 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSGA10 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CCHCR1 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TSGA10 | BIRC2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BIRC2 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TSGA10 | BCL6B | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLJ38668 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB24 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCEL | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB5 | TSGA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSGA10 | CDK18 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (108): TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid), TSGA10 (Two-hybrid)
ESM2 similar proteins: A0A2R8QCI3, A3KGV1, A3KNA5, A7MD70, B1WB65, B8JK76, F6ZDS4, G5E861, O35550, O35551, P55937, P85001, Q08DR9, Q15276, Q2T9U2, Q4R6W3, Q4R703, Q4R8C3, Q502I3, Q5BJF6, Q5M9N0, Q5PQ23, Q5PR68, Q5R829, Q5RG45, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6NRC9, Q6NRW2, Q6NY15, Q6P5D4, Q6ZU80, Q80UF4, Q811U3, Q86SQ7, Q8BI22, Q8CDI6, Q8CDI7
Diamond homologs: Q4R6W3, Q5RG45, Q66GS9, Q6NY15, Q6P5D4, Q9BZW7, Q9Z220, A8ID55
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 8 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 523232 | NM_182911.4(TSGA10):c.211del | Pathogenic |
SpliceAI
4652 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:99018198:A:AC | donor_gain | 1.0000 |
| 2:99018199:C:CC | donor_gain | 1.0000 |
| 2:99018199:CT:C | donor_gain | 1.0000 |
| 2:99018531:CTTA:C | donor_loss | 1.0000 |
| 2:99018532:TTA:T | donor_loss | 1.0000 |
| 2:99018533:TA:T | donor_loss | 1.0000 |
| 2:99018534:A:AC | donor_gain | 1.0000 |
| 2:99018534:A:T | donor_loss | 1.0000 |
| 2:99018534:AC:A | donor_gain | 1.0000 |
| 2:99018535:C:CT | donor_gain | 1.0000 |
| 2:99018535:CC:C | donor_gain | 1.0000 |
| 2:99018535:CCT:C | donor_gain | 1.0000 |
| 2:99018535:CCTT:C | donor_gain | 1.0000 |
| 2:99018535:CCTTT:C | donor_gain | 1.0000 |
| 2:99018636:TGGCC:T | acceptor_gain | 1.0000 |
| 2:99018637:GGCC:G | acceptor_gain | 1.0000 |
| 2:99018638:GCC:G | acceptor_gain | 1.0000 |
| 2:99018638:GCCC:G | acceptor_loss | 1.0000 |
| 2:99018639:CC:C | acceptor_gain | 1.0000 |
| 2:99018639:CCC:C | acceptor_gain | 1.0000 |
| 2:99018640:CC:C | acceptor_gain | 1.0000 |
| 2:99018641:C:CA | acceptor_loss | 1.0000 |
| 2:99018641:C:CC | acceptor_gain | 1.0000 |
| 2:99020278:A:AC | donor_gain | 1.0000 |
| 2:99020279:C:CC | donor_gain | 1.0000 |
| 2:99035226:ATAC:A | donor_loss | 1.0000 |
| 2:99035227:TA:T | donor_loss | 1.0000 |
| 2:99035228:ACCAT:A | donor_loss | 1.0000 |
| 2:99035229:C:CG | donor_loss | 1.0000 |
| 2:99064932:AACTT:A | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000034167 (2:99082569 T>C,G), RS1000051205 (2:99039072 A>T), RS1000091457 (2:99028241 A>G), RS1000093847 (2:99027412 T>C), RS1000146043 (2:99027690 C>G,T), RS1000237097 (2:99112491 G>C), RS1000299197 (2:99098747 T>G), RS1000302937 (2:99079469 T>C), RS1000326766 (2:99021338 C>A), RS1000335725 (2:99079881 A>C), RS1000344653 (2:99123638 AT>A,ATT), RS1000392154 (2:99138276 A>G), RS1000417546 (2:99025281 A>T), RS1000503307 (2:99032758 G>C), RS1000536203 (2:99086230 G>A,C)
Disease associations
OMIM: gene MIM:607166 | disease phenotypes: MIM:617961
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 26 | Limited | Unknown |
Mondo (1): spermatogenic failure 26 (MONDO:0054730)
Orphanet (0):
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0011462 | Young adult onset |
| HP:0012869 | Acephalic spermatozoa |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_13 | Bipolar disorder | 3.000000e-06 |
| GCST005316_286 | Intelligence (MTAG) | 1.000000e-08 |
| GCST90002385_136 | High light scatter reticulocyte count | 4.000000e-17 |
| GCST90002386_252 | High light scatter reticulocyte percentage of red cells | 4.000000e-18 |
| GCST90002405_132 | Reticulocyte count | 5.000000e-13 |
| GCST90002406_25 | Reticulocyte fraction of red cells | 3.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| tungsten carbide | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| manganese chloride | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Amiodarone | increases expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Cobalt | affects cotreatment, increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Deoxycholic Acid | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Glycocholic Acid | affects cotreatment, increases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Manganese | increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spermatogenic failure 26
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 26