TSPY8

Summary

TSPY8 (testis specific protein Y-linked 8, HGNC:37471) is a protein-coding gene on chromosome Yp11.2, encoding Testis-specific Y-encoded protein 8 (P0CW00). 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 728403 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001243721

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37471
Approved symbol	TSPY8
Name	testis specific protein Y-linked 8
Location	Yp11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000229549
Ensembl biotype	protein_coding
Entrez	728403

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000287721, ENST00000383000, ENST00000383005, ENST00000436159, ENST00000477879

RefSeq mRNA: 2 — MANE Select: NM_001243721 NM_001243721, NM_001422078

CCDS: CCDS59533

Canonical transcript exons

ENST00000287721 — 6 exons

Exon	Start	End
ENSE00001885622	9360383	9360593
ENSE00002028706	9357797	9358328
ENSE00002045368	9359142	9359253
ENSE00003564905	9359607	9359688
ENSE00003676294	9358936	9359013
ENSE00003807770	9359355	9359500

Expression profiles

Bgee: expression breadth broad, 31 present calls, max score 88.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0057 / max 7.8856, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201123	0.0057	1

Top tissues by expression

100 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	88.48	gold quality
right testis	UBERON:0004534	87.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.86	gold quality
left testis	UBERON:0004533	86.02	gold quality
testis	UBERON:0000473	84.26	gold quality
stromal cell of endometrium	CL:0002255	39.08	gold quality
bone marrow cell	CL:0002092	38.33	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
apex of heart	UBERON:0002098	35.52	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	35.28	gold quality
skeletal muscle tissue	UBERON:0001134	34.83	gold quality
vermiform appendix	UBERON:0001154	33.50	gold quality
bone marrow	UBERON:0002371	32.85	gold quality
duodenum	UBERON:0002114	32.33	gold quality
monocyte	CL:0000576	32.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	32.13	gold quality
lymph node	UBERON:0000029	31.80	silver quality
leukocyte	CL:0000738	31.77	gold quality
liver	UBERON:0002107	30.87	gold quality
superior frontal gyrus	UBERON:0002661	30.67	gold quality
urinary bladder	UBERON:0001255	29.43	silver quality
prefrontal cortex	UBERON:0000451	29.35	gold quality
blood	UBERON:0000178	28.59	gold quality
muscle of leg	UBERON:0001383	27.77	silver quality
right lobe of liver	UBERON:0001114	27.65	gold quality
gastrocnemius	UBERON:0001388	27.10	silver 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

miRNA regulators (miRDB)

15 targeting TSPY8, 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-335-3P	99.93	73.36	4958
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-6509-5P	97.39	68.27	969
HSA-MIR-4640-3P	94.58	63.02	263

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), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY9 (ENSG00000238074), TSPY1 (ENSG00000258992), (ENSG00000293164)

Protein

Protein identifiers

Testis-specific Y-encoded protein 8 — P0CW00 (reviewed: P0CW00)

All UniProt accessions (3): P0CW00, A6NDJ3, A6NGL4

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 (2): NP_001230650, NP_001409007 (=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-P0CW00-F1	76.27	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (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, MIR3140_5P

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

3 interactions, top by confidence:

A	B	Type	Score
TSPY3	TSPY8	psi-mi:“MI:0914”(association)	0.350
TSPY2	TSPY8	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): TSPY8 (Affinity Capture-MS), TSPY8 (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.

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

1050 predictions. Top by Δscore:

Variant	Effect	Δscore
Y:9359013:GG:G	donor_loss	1.0000
Y:9359014:GTGAG:G	donor_loss	1.0000
Y:9359024:G:GT	donor_gain	1.0000
Y:9359131:T:A	acceptor_gain	1.0000
Y:9359136:T:TA	acceptor_gain	1.0000
Y:9359138:ACAG:A	acceptor_loss	1.0000
Y:9359140:A:AG	acceptor_gain	1.0000
Y:9359140:AG:A	acceptor_gain	1.0000
Y:9359140:AGGT:A	acceptor_gain	1.0000
Y:9359140:AGGTG:A	acceptor_gain	1.0000
Y:9359141:G:GC	acceptor_gain	1.0000
Y:9359141:GG:G	acceptor_gain	1.0000
Y:9359141:GGT:G	acceptor_gain	1.0000
Y:9359141:GGTG:G	acceptor_gain	1.0000
Y:9359141:GGTGG:G	acceptor_gain	1.0000
Y:9359220:G:GG	donor_gain	1.0000
Y:9359232:G:GT	donor_gain	1.0000
Y:9359353:A:AG	acceptor_gain	1.0000
Y:9359354:G:GG	acceptor_gain	1.0000
Y:9359354:GA:G	acceptor_gain	1.0000
Y:9359354:GAATA:G	acceptor_gain	1.0000
Y:9359498:GAG:G	donor_gain	1.0000
Y:9359499:AGGT:A	donor_loss	1.0000
Y:9359500:GGTG:G	donor_loss	1.0000
Y:9359501:G:GC	donor_loss	1.0000
Y:9359501:G:GG	donor_gain	1.0000
Y:9359502:T:A	donor_loss	1.0000
Y:9359011:G:GT	donor_gain	0.9900
Y:9359014:G:GG	donor_gain	0.9900
Y:9359127:ACCTT:A	acceptor_gain	0.9900

AlphaMissense

2027 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:9359231:G:C	K218N	0.999
Y:9359231:G:T	K218N	0.999
Y:9358314:T:C	F158L	0.998
Y:9358316:C:A	F158L	0.998
Y:9358316:C:G	F158L	0.998
Y:9359209:T:C	F211S	0.997
Y:9359190:T:C	F205L	0.996
Y:9359192:T:A	F205L	0.996
Y:9359192:T:G	F205L	0.996
Y:9358315:T:C	F158S	0.995
Y:9358317:T:A	W159R	0.995
Y:9358317:T:C	W159R	0.995
Y:9358319:G:C	W159C	0.995
Y:9358319:G:T	W159C	0.995
Y:9358946:A:G	H166R	0.995
Y:9358947:C:A	H166Q	0.995
Y:9358947:C:G	H166Q	0.995
Y:9359387:T:A	W237R	0.995
Y:9359387:T:C	W237R	0.995
Y:9359456:T:A	W260R	0.995
Y:9359456:T:C	W260R	0.995
Y:9359208:T:C	F211L	0.994
Y:9359210:C:A	F211L	0.994
Y:9359210:C:G	F211L	0.994
Y:9359235:T:C	Y220H	0.994
Y:9358978:G:C	D177H	0.993
Y:9358286:A:C	R148S	0.992
Y:9358286:A:T	R148S	0.992
Y:9359236:A:C	Y220S	0.992
Y:9359496:C:A	A273D	0.992

dbSNP variants (sampled 182 via entrez): RS1085096 (Y:9360634 T>A), RS1159358562 (Y:9357756 C>T), RS1162704501 (Y:9360771 G>A), RS1172231287 (Y:9357906 G>A), RS1194951855 (Y:9359452 C>T), RS1195262664 (Y:9357523 CATAG>C), RS1196578605 (Y:9355850 C>G), RS1200261658 (Y:9359413 C>G), RS1215358554 (Y:9360633 G>C,T), RS1216872203 (Y:9359391 ATCT>A), RS1238925689 (Y:9359409 A>G), RS1245927490 (Y:9355884 A>T), RS1265273591 (Y:9359394 TG>T), RS1278931930 (Y:9359381 A>G), RS1283571419 (Y:9357840 C>T)

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)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1

Clinical trials (associated diseases)

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