PRY2

gene
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Also known as PTPN13LY2

Summary

PRY2 (PTPN13 like Y-linked 2, HGNC:21504) is a protein-coding gene on chromosome Yq11.223, encoding PTPN13-like protein, Y-linked (O14603).

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy.

Source: NCBI Gene 442862 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 7 total — 1 pathogenic
  • Phenotypes (HPO): 4

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21504
Approved symbolPRY2
NamePTPN13 like Y-linked 2
LocationYq11.223
Locus typegene with protein product
StatusApproved
AliasesPTPN13LY2
Ensembl geneENSG00000169807
OMIM400041
Entrez442862

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 37.20.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
colonic epitheliumUBERON:000039737.20gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
ganglionic eminenceUBERON:000402335.49gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
hindlimb stylopod muscleUBERON:000425232.15gold quality
bone marrowUBERON:000237131.74gold quality
muscle tissueUBERON:000238531.06gold quality
sural nerveUBERON:001548830.93gold quality
stromal cell of endometriumCL:000225529.87gold quality
tonsilUBERON:000237229.79silver quality
prefrontal cortexUBERON:000045129.04gold quality
lymph nodeUBERON:000002928.88gold quality
gall bladderUBERON:000211028.81silver quality
liverUBERON:000210728.26gold quality
duodenumUBERON:000211428.14gold quality
islet of LangerhansUBERON:000000627.64gold quality
superior frontal gyrusUBERON:000266127.60gold quality
rectumUBERON:000105226.88gold quality
bloodUBERON:000017826.87gold quality
right testisUBERON:000453426.80gold quality
vermiform appendixUBERON:000115426.42gold quality
left testisUBERON:000453326.38silver quality
right coronary arteryUBERON:000162526.35gold quality
leukocyteCL:000073826.22gold quality
testisUBERON:000047326.19silver quality
monocyteCL:000057626.09gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality
placentaUBERON:000198725.81gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting PRY2, 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-1229-3P99.9766.49906
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-442299.7272.072908
HSA-MIR-10393-3P99.7266.56961
HSA-MIR-6801-5P99.7266.50981
HSA-MIR-120099.7170.421838
HSA-MIR-1252-3P99.5567.712862
HSA-MIR-5584-3P99.2368.791351
HSA-MIR-544B99.1867.411632
HSA-MIR-316899.0867.751384
HSA-MIR-432499.0470.141569
HSA-MIR-6770-5P98.9766.761853
HSA-MIR-19898.7067.32920
HSA-MIR-211798.4867.971307
HSA-MIR-990398.4766.70748
HSA-MIR-444398.0266.251928
HSA-MIR-6890-3P97.5065.71997
HSA-MIR-6874-3P97.2966.34975
HSA-MIR-148B-5P97.2966.30992
HSA-MIR-397496.5666.22928
HSA-MIR-369096.4465.18737
HSA-MIR-24-1-5P95.5765.85492
HSA-MIR-24-2-5P95.5766.16484

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

PTPN13-like protein, Y-linkedO14603 (reviewed: O14603)

Alternative names: Testis-specific PTP-BL-related Y protein

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in testis. Detected in spermatocytes, spermatids and spermatozoa (at protein level).

Isoforms (2)

UniProt IDNamesCanonical?
O14603-11yes
O14603-22

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

UniProt features (3 total): splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O14603-F142.910.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

446 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PRY2BPY2O14599932
PRY2CDY1Q9Y6F8916
PRY2VCYO14598912
PRY2CDY2AQ9Y6F7883
PRY2BBOX1O75936853
PRY2DAZ1Q9NQZ3848
PRY2RBMY1A1P0DJD3839
PRY2TRIM41Q8WV44817
PRY2USP9YO00507780
PRY2MAGEH1Q9H213774
PRY2TRAT1Q6PIZ9772
PRY2DAZ2Q13117754
PRY2E7ERQ6E7ERQ6726
PRY2DDX3YO15523725
PRY2TRIM25Q14258724

IntAct

2 interactions, top by confidence:

ABTypeScore
PRYDCAF10psi-mi:“MI:0915”(physical association)0.400

BioGRID (2): PRY2 (Negative Genetic), DCAF10 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTK4, A0JNL8, A2RU37, A4D1N5, B1A0U8, B1ANY3, F2Z398, G3V211, J3KSC0, J3QMY9, O14603, O93195, O95411, P03414, P0C7M3, P37200, P47939, P47940, P49671, P92561, Q02919, Q32KZ5, Q4G0G2, Q5SR53, Q5T0J3, Q5T6R2, Q66669, Q66HF0, Q6AWC8, Q6DGF6, Q6ZP68, Q6ZSR6, Q7L4S7, Q86UQ5, Q86Y29, Q8BGX4, Q8N326, Q8N4M7, Q8N6C7, Q8N769

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance1
Likely benign0
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
870528GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS112250547 (Y:22093181 A>T), RS112517939 (Y:22094504 C>G), RS112795226 (Y:22077076 T>C), RS113174784 (Y:22090454 T>A), RS1159837267 (Y:22079300 G>A), RS1163985645 (Y:22079311 T>C), RS1175639896 (Y:22076168 T>G), RS1196111543 (Y:22079290 C>T), RS1205409159 (Y:22072244 T>C), RS1212239083 (Y:22079270 A>G), RS1212410455 (Y:22072137 A>C), RS1231676975 (Y:22096282 A>AAC,AACACAC), RS1232346449 (Y:22095934 G>A), RS1236353031 (Y:22079206 CAGG>C), RS1239118537 (Y:22079237 T>A)

Disease associations

OMIM: gene MIM:400041 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): male infertility (MONDO:0005372)

Orphanet (0):

HPO phenotypes

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

HPOTerm
HP:0000027Azoospermia
HP:0001450Y-linked inheritance
HP:0003251Male infertility
HP:0011462Young adult onset

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D007248Infertility, MaleC12.100.500.430; C12.100.750.700; C12.200.294.430

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

ChemicalActions (top 5)PubMed papers
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
CGP 52608affects binding, increases reaction1
Acetaminophendecreases expression1
Silicon Dioxidedecreases expression1
Aflatoxin B1increases methylation1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02202382PHASE4COMPLETEDEffects of Korean Red Ginseng on Male Infertility
NCT02204826PHASE4COMPLETEDEffects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864PHASE4COMPLETEDPost-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432PHASE4ACTIVE_NOT_RECRUITINGEffect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022PHASE4ENROLLING_BY_INVITATIONComparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT00975117PHASE3COMPLETEDSpermotrend in the Treatment of Male Infertility
NCT01407432PHASE3COMPLETEDImpact of Folates in the Care of the Male Infertility
NCT01895816PHASE3COMPLETEDHerbal Tonic Fertile Supplement(ZO2C5)
NCT02605070PHASE3TERMINATEDPilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia
NCT07402759PHASE3ACTIVE_NOT_RECRUITINGImpact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
NCT01880086PHASE2COMPLETEDClomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration
NCT02061384PHASE2COMPLETEDRA-2 13-cis Retinoic Acid (Isotretinoin)
NCT02421887PHASE2COMPLETEDMales, Antioxidants, and Infertility Trial
NCT05200663PHASE2UNKNOWNEfficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility
NCT05290558PHASE2ACTIVE_NOT_RECRUITINGThe Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial
NCT06091969PHASE2NOT_YET_RECRUITINGSupplementation for Male Subfertility
NCT01595308PHASE1COMPLETEDA Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers
NCT02122211PHASE1COMPLETEDCholine Dehydrogenase and Sperm Function: Effects of Betaine
NCT02575924PHASE1UNKNOWNInfluence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
NCT01304927PHASE2/PHASE3COMPLETEDVitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial
NCT02349945PHASE2/PHASE3COMPLETEDFSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy
NCT05222841PHASE2/PHASE3COMPLETEDThe Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility
NCT05616598PHASE2/PHASE3COMPLETEDEffect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters
NCT02025270PHASE1/PHASE2COMPLETEDMSCs For Treatment of Azoospermic Patients
NCT04541459EARLY_PHASE1UNKNOWNValidation of New Devices Against Ambient Electromagnetic Radiation
NCT05792813EARLY_PHASE1UNKNOWNEfficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility
NCT06188936EARLY_PHASE1COMPLETEDHome Semen Analysis Tests As a Screening Tool for Fertility Patients
NCT00012480Not specifiedCOMPLETEDEffect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm
NCT00044369Not specifiedCOMPLETEDRole of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele
NCT00119925Not specifiedUNKNOWN‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
NCT00178516Not specifiedCOMPLETEDVitamin E and Male Infertility
NCT00315029Not specifiedCOMPLETEDPatient-Centered Implementation Trial for Single Embryo Transfer
NCT00341120Not specifiedCOMPLETEDGenetic Causes of Male Infertility
NCT00481403Not specifiedCOMPLETEDStudy of Sperm Molecular Factors Implicated in Male Fertility
NCT00548977Not specifiedCOMPLETEDGenetic Studies Spermatogenic Failure
NCT00596739Not specifiedCOMPLETEDA Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery
NCT00756561Not specifiedCOMPLETEDHOP-2A - Intratesticular Hormone Levels
NCT00961558Not specifiedTERMINATEDCanadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy
NCT01075334Not specifiedUNKNOWNIs a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles?
NCT01178463Not specifiedUNKNOWNSpermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility