PATE4

Summary

PATE4 (prostate and testis expressed 4, HGNC:35427) is a protein-coding gene on chromosome 11q24.2, encoding Prostate and testis expressed protein 4 (P0C8F1). May modulate the function of nicotinic acetylcholine receptors.

Enables acetylcholine receptor regulator activity. Involved in regulation of neurotransmitter receptor activity. Located in acrosomal vesicle and extracellular space.

Source: NCBI Gene 399968 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_001144874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35427
Approved symbol	PATE4
Name	prostate and testis expressed 4
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ41047, PATE-B
Ensembl gene	ENSG00000237353
Ensembl biotype	protein_coding
Entrez	399968

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000457514, ENST00000525411, ENST00000534411

RefSeq mRNA: 1 — MANE Select: NM_001144874 NM_001144874

CCDS: CCDS44765

Canonical transcript exons

ENST00000457514 — 3 exons

Exon	Start	End
ENSE00001599353	125838306	125840072
ENSE00001743283	125837868	125837984
ENSE00003475196	125833316	125833417

Expression profiles

Bgee: expression breadth broad, 43 present calls, max score 51.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2179 / max 2152.7915, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117476	2.2179	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
testis	UBERON:0000473	51.65	gold quality
left testis	UBERON:0004533	50.99	gold quality
sural nerve	UBERON:0015488	49.46	silver quality
colonic epithelium	UBERON:0000397	48.82	silver quality
right testis	UBERON:0004534	48.40	gold quality
adrenal tissue	UBERON:0018303	45.60	silver quality
cerebellum	UBERON:0002037	44.24	silver quality
cerebellar cortex	UBERON:0002129	44.23	silver quality
cerebellar hemisphere	UBERON:0002245	44.05	silver quality
right hemisphere of cerebellum	UBERON:0014890	43.79	silver quality
bone marrow cell	CL:0002092	43.58	gold quality
primary visual cortex	UBERON:0002436	42.09	silver quality
islet of Langerhans	UBERON:0000006	40.83	gold quality
ventricular zone	UBERON:0003053	40.79	gold quality
stromal cell of endometrium	CL:0002255	40.33	silver quality
descending thoracic aorta	UBERON:0002345	40.31	gold quality
ganglionic eminence	UBERON:0004023	39.40	silver quality
endometrium	UBERON:0001295	39.25	gold quality
calcaneal tendon	UBERON:0003701	39.13	gold quality
lower esophagus mucosa	UBERON:0035834	39.11	gold quality
liver	UBERON:0002107	38.59	gold quality
right lung	UBERON:0002167	38.26	silver quality
tonsil	UBERON:0002372	38.11	gold quality
prostate gland	UBERON:0002367	38.10	gold quality
granulocyte	CL:0000094	37.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	37.02	silver quality
right coronary artery	UBERON:0001625	36.69	silver quality
bone marrow	UBERON:0002371	36.59	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	36.35	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting PATE4, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-3911	99.38	66.95	1087

Literature-anchored findings (GeneRIF, showing 2)

• analysis of PATE, expressed primarily in prostate and less in testis, and additional PATE-like genes PATE-M, PATE-DJ, and PATE-B (PMID:18387948)
• PATE proteins are involved in sperm-oolemma fusion and penetration but not sperm-zona binding. (PMID:22402205)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pate4	ENSMUSG00000032099
rattus_norvegicus	Pate4b	ENSRNOG00000080692
rattus_norvegicus		ENSRNOG00000086195

Paralogs (4): ACRV1 (ENSG00000134940), PATE1 (ENSG00000171053), PATE2 (ENSG00000196844), PATE3 (ENSG00000236027)

Protein

Protein identifiers

Prostate and testis expressed protein 4 — P0C8F1 (reviewed: P0C8F1)

Alternative names: PATE-like protein B

All UniProt accessions (2): P0C8F1, E9PK74

UniProt curated annotations — full annotation on UniProt →

Function. May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility.

Subcellular location. Secreted. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Tissue specificity. Specifically expressed in prostate, testis and spinal cord. Present in the acrosomal region of sperm cells. Present in apical epithelial cells of prostatic duct.

Similarity. Belongs to the PATE family.

RefSeq proteins (1): NP_001138346* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016054	LY6_UPA_recep-like	Domain
IPR045860	Snake_toxin-like_sf	Homologous_superfamily

Pfam: PF00021

UniProt features (7 total): disulfide bond 4, signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C8F1-F1	90.73	0.73

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (4): 25–51, 28–36, 43–69, 73–89

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 30 (showing top): GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_NEUROTRANSMITTER_RECEPTOR_ACTIVITY, GOCC_SECRETORY_VESICLE, GOCC_ACROSOMAL_VESICLE, chr11q24, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOBP_REGULATION_OF_SIGNALING_RECEPTOR_ACTIVITY, GOMF_NEUROTRANSMITTER_RECEPTOR_REGULATOR_ACTIVITY, MIR3680_3P, MIR4531, MIR877_3P, MIR4782_5P, MIR5706, MIR1184

GO Biological Process (1): regulation of neurotransmitter receptor activity (GO:0099601)

GO Molecular Function (1): acetylcholine receptor regulator activity (GO:0030548)

GO Cellular Component (4): acrosomal vesicle (GO:0001669), obsolete extracellular space (GO:0005615), extracellular region (GO:0005576), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of signaling receptor activity	1
neurotransmitter receptor activity	1
acetylcholine receptor activity	1
neurotransmitter receptor regulator activity	1
secretory granule	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PATE4	PATE3	B3GLJ2	822
PATE4	PATE2	Q6UY27	816
PATE4	PATE1	Q8WXA2	696
PATE4	TGM4	P49221	678
PATE4	LY6L	H3BQJ8	644
PATE4	LYNX1	P0DP58	607
PATE4	SLURP1	P55000	591
PATE4	PINLYP	A6NC86	591
PATE4	LYPD4	Q6UWN0	589
PATE4	LYPD5	Q6UWN5	583
PATE4	LY6G5B	Q8NDX9	575
PATE4	SPACA4	Q8TDM5	573
PATE4	LY6H	O94772	544
PATE4	LYPD2	Q6UXB3	541
PATE4	ACRV1	P26436	526

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A346CIB0, B3GLJ2, B3GLJ3, C1IC49, O42255, O42256, O73857, O93471, O93472, P01442, P0C8F1, P15818, P43445, P58370, P60301, P60302, P60303, P60304, P60310, P60814, P79810, P81827, P81828, P82935, P83121, Q00996, Q09098, Q2VBN2, Q2VBP1, Q2VBP3, Q3UN54, Q3UW31, Q53B47, Q6UY27, Q70WS8, Q7ZT13, Q802B3, Q8AY52, Q8AY53, Q98958

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

15 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

322 predictions. Top by Δscore:

Variant	Effect	Δscore
11:125833414:GAGG:G	donor_gain	0.9900
11:125833416:GG:G	donor_gain	0.9900
11:125833417:GG:G	donor_gain	0.9900
11:125833415:AGGG:A	donor_loss	0.9800
11:125833417:GGTA:G	donor_loss	0.9800
11:125833418:G:C	donor_loss	0.9800
11:125833418:G:GG	donor_gain	0.9800
11:125833419:T:A	donor_loss	0.9800
11:125833413:AGAGG:A	donor_gain	0.9600
11:125833414:GAGGG:G	donor_gain	0.9600
11:125833415:AGG:A	donor_gain	0.9500
11:125833416:GGG:G	donor_gain	0.9500
11:125833391:GCT:G	donor_gain	0.9200
11:125837982:GGG:G	donor_gain	0.9200
11:125837983:GGG:G	donor_gain	0.9200
11:125833415:AGGGT:A	donor_gain	0.9100
11:125833416:GGGTA:G	donor_gain	0.9100
11:125833417:GGTAA:G	donor_gain	0.9100
11:125833418:GTAAG:G	donor_gain	0.9100
11:125833419:TAAGT:T	donor_gain	0.9100
11:125837866:A:AG	acceptor_gain	0.8800
11:125837867:G:GG	acceptor_gain	0.8800
11:125837957:T:G	donor_gain	0.8800
11:125833420:AA:A	donor_gain	0.8700
11:125833366:A:T	donor_gain	0.8300
11:125833387:G:GG	donor_gain	0.7800
11:125838426:A:AG	acceptor_gain	0.7800
11:125833386:T:G	donor_gain	0.7700
11:125833422:G:C	donor_gain	0.7400
11:125833365:G:GT	donor_gain	0.7300

AlphaMissense

641 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:125837960:T:A	C51S	0.990
11:125837961:G:C	C51S	0.990
11:125837963:T:C	S52P	0.988
11:125837882:T:A	C25S	0.986
11:125837883:G:C	C25S	0.986
11:125838323:T:C	S65P	0.985
11:125838418:T:A	N96K	0.985
11:125838418:T:G	N96K	0.985
11:125838335:T:A	C69S	0.984
11:125838336:G:C	C69S	0.984
11:125837960:T:C	C51R	0.983
11:125837962:T:G	C51W	0.981
11:125837915:T:A	C36S	0.979
11:125837916:G:C	C36S	0.979
11:125837930:G:T	G41C	0.978
11:125838414:G:A	C95Y	0.978
11:125837961:G:A	C51Y	0.977
11:125837924:G:T	G39C	0.975
11:125838347:T:A	C73S	0.975
11:125838348:G:C	C73S	0.975
11:125838347:T:C	C73R	0.974
11:125837936:T:A	C43S	0.973
11:125837937:G:C	C43S	0.973
11:125837882:T:C	C25R	0.972
11:125837915:T:C	C36R	0.972
11:125837891:T:A	C28S	0.971
11:125837892:G:C	C28S	0.971
11:125837893:C:G	C28W	0.970
11:125838395:T:A	C89S	0.970
11:125838396:G:C	C89S	0.970

dbSNP variants (sampled 300 via entrez): RS1000278800 (11:125835001 G>A), RS1000571091 (11:125838888 T>C,G), RS1000723352 (11:125832878 A>G), RS1000792071 (11:125833061 G>A), RS1001283340 (11:125833524 A>G), RS1001398940 (11:125833283 G>A,C), RS1001630013 (11:125839898 C>T), RS1001632359 (11:125837683 T>A), RS1001694056 (11:125831710 G>A,C,T), RS1002236081 (11:125838835 G>A), RS1002576437 (11:125835955 C>T), RS1002588694 (11:125838509 A>G), RS1003036872 (11:125836194 G>A), RS1003184632 (11:125836975 C>T), RS1003237433 (11:125837247 C>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

2 associations (top):

Study	Trait	p-value
GCST002861_2	Breast cancer (survival)	1.000000e-09
GCST004862_18	Itch intensity from mosquito bite adjusted by bite size	9.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0000714	survival time
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
pentanal	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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