TSGA10

gene
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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

FieldValue
HGNC IDHGNC:14927
Approved symbolTSGA10
Nametestis specific 10
Location2q11.2
Locus typegene with protein product
StatusApproved
AliasesCEP4L, CT79
Ensembl geneENSG00000135951
Ensembl biotypeprotein_coding
OMIM607166
Entrez80705

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

ExonStartEnd
ENSE000009218229902028099020482
ENSE000012001689910938999109512
ENSE000013727019911855199118686
ENSE000013813949911085099110915
ENSE000013845549912704899127176
ENSE000013908589911754499117759
ENSE000015154479899726198998221
ENSE000018719569915469399154942
ENSE000034853829907301899073073
ENSE000035364519906493999065124
ENSE000035450259910396799104118
ENSE000035764519903523099035439
ENSE000035828939906888899068998
ENSE000035859979910883399108991
ENSE000036060209910535999105436
ENSE000036066129907170699071874
ENSE000036105479910552799105697
ENSE000036339099901853699018640
ENSE000036668339908128299081397
ENSE000036807659907865999078813
ENSE000037871769901820099018349

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 IDTPM avgSamples expressed
298701.5894809
298751.1080636
298741.1003585
298690.9121489
298760.8305459
298730.147961
298720.105441
298710.048120

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001998.37gold quality
right uterine tubeUBERON:000130296.27gold quality
male germ cellCL:000001596.17gold quality
bronchial epithelial cellCL:000232894.77gold quality
left testisUBERON:000453394.62gold quality
right testisUBERON:000453494.04gold quality
epithelium of bronchusUBERON:000203193.54gold quality
testisUBERON:000047393.22gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047392.65gold quality
bronchusUBERON:000218592.05gold quality
buccal mucosa cellCL:000233689.77gold quality
olfactory segment of nasal mucosaUBERON:000538688.57gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099186.75gold quality
adenohypophysisUBERON:000219686.39gold quality
mucosa of paranasal sinusUBERON:000503085.63gold quality
pituitary glandUBERON:000000784.47gold quality
left lobe of thyroid glandUBERON:000112083.97gold quality
C1 segment of cervical spinal cordUBERON:000646983.82gold quality
right lobe of thyroid glandUBERON:000111983.61gold quality
thyroid glandUBERON:000204683.35gold quality
secondary oocyteCL:000065583.24gold quality
calcaneal tendonUBERON:000370182.85gold quality
islet of LangerhansUBERON:000000682.36gold quality
metanephros cortexUBERON:001053382.16gold quality
corpus callosumUBERON:000233681.97gold quality
body of pancreasUBERON:000115080.78gold quality
cerebellar hemisphereUBERON:000224580.70gold quality
cerebellar cortexUBERON:000212980.57gold quality
right hemisphere of cerebellumUBERON:001489080.49gold quality
spinal cordUBERON:000224079.62gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.31

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3163100.0077.238605
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-548P99.9872.253784
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-570-3P99.9672.414910
HSA-MIR-548AT-5P99.9670.832666
HSA-MIR-96-5P99.9572.802140
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-57799.7869.132479
HSA-MIR-548AG99.7769.251492
HSA-MIR-451799.7669.191867
HSA-MIR-200A-5P99.7669.10949
HSA-MIR-200B-5P99.7669.05948
HSA-MIR-425599.7267.701541
HSA-MIR-4699-3P99.7170.153142
HSA-MIR-548BA99.6969.141514
HSA-MIR-548AI99.6969.241494
HSA-MIR-570-5P99.6969.241494
HSA-MIR-545-5P99.6670.182308
HSA-MIR-6512-3P99.6566.071468
HSA-MIR-6720-5P99.6566.221459

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

OrganismSymbolGene ID
danio_reriotsga10ENSDARG00000052512
mus_musculusTsga10ENSMUSG00000060771
rattus_norvegicusTsga10ENSRNOG00000058681

Paralogs (4): CROCC (ENSG00000058453), CEP250 (ENSG00000126001), CEP135 (ENSG00000174799), CROCC2 (ENSG00000226321)

Protein

Protein identifiers

Testis-specific gene 10 proteinQ9BZW7 (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 IDNamesCanonical?
Q9BZW7-11yes
Q9BZW7-22

RefSeq proteins (5): NP_001335941, NP_001335942, NP_001335943, NP_079520, NP_878915 (=MANE)

Domains & families (InterPro)

IDNameType
IPR051877Centriole_BasalBody_StrucProtFamily

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)

ModelpLDDTFraction very-high
AF-Q9BZW7-F181.700.56

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:

CategoryTerms
cellular anatomical structure3
intracellular membraneless organelle2
sperm flagellum2
developmental process involved in reproduction1
male gamete generation1
cellular component assembly1
cell projection organization1
binding1
intracellular anatomical structure1
microtubule organizing center1
cilium1
plasma membrane bounded cell projection1

Protein interactions and networks

STRING

1201 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TSGA10PMFBP1Q8TBY8711
TSGA10SUN5Q8TC36691
TSGA10BRDTQ58F21601
TSGA10CEP112Q8N8E3582
TSGA10ODF4Q2M2E3553
TSGA10AKAP3O75969535
TSGA10HMGN5P82970522
TSGA10HOOK1Q9UJC3491
TSGA10SPATC1LQ9H0A9489
TSGA10ACTG1P02571484
TSGA10CABYRO75952478
TSGA10SPA17Q15506477
TSGA10ROPN1Q9HAT0466
TSGA10SOX30O94993466
TSGA10AKAP4Q5JQC9451

IntAct

259 interactions, top by confidence:

ABTypeScore
PRPF31TSGA10psi-mi:“MI:0915”(physical association)0.720
TSGA10CDC73psi-mi:“MI:0915”(physical association)0.720
CDC73TSGA10psi-mi:“MI:0915”(physical association)0.720
TSGA10CCHCR1psi-mi:“MI:0915”(physical association)0.720
TSGA10CEP44psi-mi:“MI:0915”(physical association)0.720
TSGA10PRPF31psi-mi:“MI:0915”(physical association)0.720
CCHCR1TSGA10psi-mi:“MI:0915”(physical association)0.720
TSGA10BIRC2psi-mi:“MI:0915”(physical association)0.670
BIRC2TSGA10psi-mi:“MI:0915”(physical association)0.670
TSGA10BCL6Bpsi-mi:“MI:0915”(physical association)0.560
FLJ38668TSGA10psi-mi:“MI:0915”(physical association)0.560
ZBTB24TSGA10psi-mi:“MI:0915”(physical association)0.560
SCELTSGA10psi-mi:“MI:0915”(physical association)0.560
CREB5TSGA10psi-mi:“MI:0915”(physical association)0.560
TSGA10CDK18psi-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):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance84
Likely benign8
Benign4

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
523232NM_182911.4(TSGA10):c.211delPathogenic

SpliceAI

4652 predictions. Top by Δscore:

VariantEffectΔscore
2:99018198:A:ACdonor_gain1.0000
2:99018199:C:CCdonor_gain1.0000
2:99018199:CT:Cdonor_gain1.0000
2:99018531:CTTA:Cdonor_loss1.0000
2:99018532:TTA:Tdonor_loss1.0000
2:99018533:TA:Tdonor_loss1.0000
2:99018534:A:ACdonor_gain1.0000
2:99018534:A:Tdonor_loss1.0000
2:99018534:AC:Adonor_gain1.0000
2:99018535:C:CTdonor_gain1.0000
2:99018535:CC:Cdonor_gain1.0000
2:99018535:CCT:Cdonor_gain1.0000
2:99018535:CCTT:Cdonor_gain1.0000
2:99018535:CCTTT:Cdonor_gain1.0000
2:99018636:TGGCC:Tacceptor_gain1.0000
2:99018637:GGCC:Gacceptor_gain1.0000
2:99018638:GCC:Gacceptor_gain1.0000
2:99018638:GCCC:Gacceptor_loss1.0000
2:99018639:CC:Cacceptor_gain1.0000
2:99018639:CCC:Cacceptor_gain1.0000
2:99018640:CC:Cacceptor_gain1.0000
2:99018641:C:CAacceptor_loss1.0000
2:99018641:C:CCacceptor_gain1.0000
2:99020278:A:ACdonor_gain1.0000
2:99020279:C:CCdonor_gain1.0000
2:99035226:ATAC:Adonor_loss1.0000
2:99035227:TA:Tdonor_loss1.0000
2:99035228:ACCAT:Adonor_loss1.0000
2:99035229:C:CGdonor_loss1.0000
2:99064932:AACTT:Adonor_loss1.0000

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

DiseaseClassificationInheritance
spermatogenic failure 26LimitedUnknown

Mondo (1): spermatogenic failure 26 (MONDO:0054730)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0003251Male infertility
HP:0011462Young adult onset
HP:0012869Acephalic spermatozoa

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001241_13Bipolar disorder3.000000e-06
GCST005316_286Intelligence (MTAG)1.000000e-08
GCST90002385_136High light scatter reticulocyte count4.000000e-17
GCST90002386_252High light scatter reticulocyte percentage of red cells4.000000e-18
GCST90002405_132Reticulocyte count5.000000e-13
GCST90002406_25Reticulocyte fraction of red cells3.000000e-14

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004337intelligence
EFO:0007986reticulocyte 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.

ChemicalActions (top 5)PubMed papers
Acetaminophenincreases expression2
Benzo(a)pyrenedecreases expression, increases methylation2
Valproic Aciddecreases methylation, increases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, increases expression2
tungsten carbideaffects cotreatment, increases expression1
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium saltaffects cotreatment, increases expression1
sodium arseniteincreases expression1
manganese chlorideincreases expression1
benzo(e)pyrenedecreases methylation1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
Air Pollutantsincreases abundance, increases expression1
Air Pollutants, Occupationalaffects expression1
Amiodaroneincreases expression1
Chenodeoxycholic Acidaffects cotreatment, increases expression1
Cobaltaffects cotreatment, increases expression1
Demecolcineincreases expression1
Deoxycholic Acidaffects cotreatment, increases expression1
Ethyl Methanesulfonateincreases expression1
Formaldehydeincreases expression1
Glycochenodeoxycholic Acidaffects cotreatment, increases expression1
Glycocholic Acidaffects cotreatment, increases expression1
Glycodeoxycholic Acidaffects cotreatment, increases expression1
Manganeseincreases expression1
Methapyrilenedecreases methylation1
Methyl Methanesulfonateincreases expression1
Quercetinincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.