TSPY9
gene geneOn this page
Summary
TSPY9 (testis specific protein Y-linked 9, HGNC:37472) is a protein-coding gene on chromosome Yp11.2, encoding Testis-specific Y-encoded protein 9 (A0A494C1R9). May be involved in sperm differentiation and proliferation.
Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in chromatin and nucleus.
Source: NCBI Gene 728132 — RefSeq curated summary.
At a glance
- MANE Select transcript:
NM_001396063
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:37472 |
| Approved symbol | TSPY9 |
| Name | testis specific protein Y-linked 9 |
| Location | Yp11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000238074 |
| Ensembl biotype | protein_coding |
| Entrez | 728132 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000440215
RefSeq mRNA: 1 — MANE Select: NM_001396063
NM_001396063
CCDS: CCDS94712
Canonical transcript exons
ENST00000440215 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001663813 | 9488424 | 9488501 |
| ENSE00003482640 | 9489095 | 9489176 |
| ENSE00003569983 | 9488630 | 9488741 |
| ENSE00003622104 | 9488843 | 9488988 |
| ENSE00003978254 | 9487267 | 9487816 |
| ENSE00003978255 | 9489871 | 9490081 |
Expression profiles
Bgee: expression breadth tissue_specific, 9 present calls, max score 86.01.
Top tissues by expression
133 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.01 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.68 | gold quality |
| right testis | UBERON:0004534 | 78.51 | gold quality |
| testis | UBERON:0000473 | 76.00 | gold quality |
| left testis | UBERON:0004533 | 75.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.23 | gold quality |
| liver | UBERON:0002107 | 28.32 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| leukocyte | CL:0000738 | 26.27 | gold quality |
| monocyte | CL:0000576 | 26.14 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 25.89 | gold quality |
| blood | UBERON:0000178 | 25.88 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
| muscle of leg | UBERON:0001383 | 24.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tspy | ENSDARG00000005015 |
| danio_rerio | nap1l4a | ENSDARG00000070560 |
| 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), TSPYL1 (ENSG00000189241), NAP1L4 (ENSG00000205531), TSPY3 (ENSG00000228927), TSPY8 (ENSG00000229549), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY1 (ENSG00000258992), (ENSG00000293164)
Protein
Protein identifiers
Testis-specific Y-encoded protein 9 — A0A494C1R9 (reviewed: A0A494C1R9)
All UniProt accessions (1): A0A494C1R9
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in sperm differentiation and proliferation.
Subcellular location. Cytoplasm. Nucleus.
Polymorphism. Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. 35 tandemly repeated gene copies on Yp11 originating from one individual have been reported.
Similarity. Belongs to the nucleosome assembly protein (NAP) family.
RefSeq proteins (1): NP_001382992* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002164 | NAP | Family |
| IPR037231 | NAP-like_sf | Homologous_superfamily |
Pfam: PF00956
UniProt features (1 total): chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A0A494C1R9-F1 | 73.39 | 0.44 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 20 (showing top):
GOBP_MALE_GAMETE_GENERATION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MESENCHYME_DEVELOPMENT, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_MESODERM_DEVELOPMENT, GOBP_CHROMATIN_REMODELING, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, GOMF_CHROMATIN_BINDING, GOMF_HISTONE_BINDING, chrYp11, GOBP_GONADAL_MESODERM_DEVELOPMENT, GOBP_NUCLEOSOME_ORGANIZATION, GOBP_SEXUAL_REPRODUCTION
GO Biological Process (4): nucleosome assembly (GO:0006334), spermatogenesis (GO:0007283), gonadal mesoderm development (GO:0007506), cell differentiation (GO:0030154)
GO Molecular Function (2): chromatin binding (GO:0003682), histone binding (GO:0042393)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| developmental process involved in reproduction | 2 |
| cellular anatomical structure | 2 |
| chromatin organization | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| male gamete generation | 1 |
| mesoderm development | 1 |
| gonad development | 1 |
| mesenchyme development | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| protein binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
0 interactions, top by confidence:
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1083 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| Y:9488500:AGG:A | donor_loss | 1.0000 |
| Y:9488501:GGTG:G | donor_loss | 1.0000 |
| Y:9488502:G:T | donor_loss | 1.0000 |
| Y:9488512:G:GT | donor_gain | 1.0000 |
| Y:9488619:T:TA | acceptor_gain | 1.0000 |
| Y:9488624:T:A | acceptor_gain | 1.0000 |
| Y:9488626:ACAG:A | acceptor_loss | 1.0000 |
| Y:9488628:A:AG | acceptor_gain | 1.0000 |
| Y:9488628:AG:A | acceptor_gain | 1.0000 |
| Y:9488628:AGGT:A | acceptor_gain | 1.0000 |
| Y:9488628:AGGTG:A | acceptor_gain | 1.0000 |
| Y:9488629:G:GC | acceptor_gain | 1.0000 |
| Y:9488629:GG:G | acceptor_gain | 1.0000 |
| Y:9488629:GGT:G | acceptor_gain | 1.0000 |
| Y:9488629:GGTG:G | acceptor_gain | 1.0000 |
| Y:9488629:GGTGG:G | acceptor_gain | 1.0000 |
| Y:9488708:G:GG | donor_gain | 1.0000 |
| Y:9488720:G:GT | donor_gain | 1.0000 |
| Y:9488841:A:AG | acceptor_gain | 1.0000 |
| Y:9488842:G:GG | acceptor_gain | 1.0000 |
| Y:9488842:GA:G | acceptor_gain | 1.0000 |
| Y:9488842:GAAT:G | acceptor_gain | 1.0000 |
| Y:9488842:GAATA:G | acceptor_gain | 1.0000 |
| Y:9488868:A:AG | acceptor_gain | 1.0000 |
| Y:9488986:GAG:G | donor_gain | 1.0000 |
| Y:9488987:AGG:A | donor_loss | 1.0000 |
| Y:9488989:G:GG | donor_gain | 1.0000 |
| Y:9488989:GTGA:G | donor_loss | 1.0000 |
| Y:9488990:T:G | donor_loss | 1.0000 |
| Y:9487711:G:GT | donor_gain | 0.9900 |
AlphaMissense
2063 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:9488719:G:C | K224N | 0.999 |
| Y:9488719:G:T | K224N | 0.999 |
| Y:9487802:T:C | F164L | 0.995 |
| Y:9487804:C:A | F164L | 0.995 |
| Y:9487804:C:G | F164L | 0.995 |
| Y:9488697:T:C | F217S | 0.994 |
| Y:9488944:T:A | W266R | 0.994 |
| Y:9488944:T:C | W266R | 0.994 |
| Y:9488678:T:C | F211L | 0.993 |
| Y:9488680:T:A | F211L | 0.993 |
| Y:9488680:T:G | F211L | 0.993 |
| Y:9488875:T:A | W243R | 0.993 |
| Y:9488875:T:C | W243R | 0.993 |
| Y:9488723:T:C | Y226H | 0.992 |
| Y:9487803:T:C | F164S | 0.990 |
| Y:9488723:T:G | Y226D | 0.990 |
| Y:9488724:A:C | Y226S | 0.990 |
| Y:9488696:T:C | F217L | 0.989 |
| Y:9488698:C:A | F217L | 0.989 |
| Y:9488698:C:G | F217L | 0.989 |
| Y:9488717:A:G | K224E | 0.989 |
| Y:9488984:C:A | A279D | 0.989 |
| Y:9488466:G:C | D183H | 0.987 |
| Y:9488877:G:C | W243C | 0.987 |
| Y:9488877:G:T | W243C | 0.987 |
| Y:9488946:G:C | W266C | 0.987 |
| Y:9488946:G:T | W266C | 0.987 |
| Y:9488434:A:G | H172R | 0.986 |
| Y:9488948:T:C | F267S | 0.986 |
| Y:9487805:T:A | W165R | 0.984 |
dbSNP variants (sampled 112 via entrez): RS1187529841 (Y:9489024 A>G), RS1194474203 (Y:9487762 G>C), RS1201136942 (Y:9490123 TTGTGTG>T,TTGTG,TTGTGTGTG), RS1211557239 (Y:9488550 G>C), RS1223087928 (Y:9487831 G>A), RS1231183059 (Y:9490492 T>A), RS1259002950 (Y:9487447 A>G), RS1276064905 (Y:9487226 C>T), RS1284855480 (Y:9488194 GTC>G), RS1317472486 (Y:9487656 T>C), RS1323524936 (Y:9485444 G>C), RS1331033658 (Y:9488535 G>C), RS1348459055 (Y:9487589 C>T), RS1369759669 (Y:9485494 C>T), RS1441031320 (Y:9485671 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.