PKDREJ

Summary

PKDREJ (polycystin family receptor for egg jelly, HGNC:9015) is a protein-coding gene on chromosome 22q13.31, encoding Polycystin family receptor for egg jelly (Q9NTG1). Testis-specific protein that controls sperm transport and the timing of zona pellucida-evoked exocytosis of the sperm acrosome.

This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined.

Source: NCBI Gene 10343 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 346 total
• MANE Select transcript: NM_006071

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9015
Approved symbol	PKDREJ
Name	polycystin family receptor for egg jelly
Location	22q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000130943
Ensembl biotype	protein_coding
OMIM	604670
Entrez	10343

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000253255

RefSeq mRNA: 1 — MANE Select: NM_006071 NM_006071

CCDS: CCDS14073

Canonical transcript exons

ENST00000253255 — 1 exons

Exon	Start	End
ENSE00001252785	46255663	46263343

Expression profiles

Bgee: expression breadth broad, 57 present calls, max score 78.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0071 / max 6.3152, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194602	0.0071	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	78.48	silver quality
male germ cell	CL:0000015	76.68	silver quality
epithelial cell of pancreas	CL:0000083	60.90	gold quality
cervix squamous epithelium	UBERON:0006922	60.55	gold quality
vena cava	UBERON:0004087	60.49	gold quality
upper arm skin	UBERON:0004263	58.98	gold quality
adult organism	UBERON:0007023	58.49	silver quality
mucosa of urinary bladder	UBERON:0001259	57.90	gold quality
diaphragm	UBERON:0001103	57.59	gold quality
testis	UBERON:0000473	57.41	gold quality
left testis	UBERON:0004533	57.25	gold quality
pancreatic ductal cell	CL:0002079	57.18	silver quality
right testis	UBERON:0004534	56.14	gold quality
ganglionic eminence	UBERON:0004023	55.13	gold quality
oviduct epithelium	UBERON:0004804	54.73	gold quality
tibia	UBERON:0000979	54.61	gold quality
cartilage tissue	UBERON:0002418	54.51	gold quality
colonic epithelium	UBERON:0000397	53.05	gold quality
bone marrow cell	CL:0002092	52.51	gold quality
embryo	UBERON:0000922	52.16	silver quality
hindlimb stylopod muscle	UBERON:0004252	51.96	silver quality
Brodmann (1909) area 46	UBERON:0006483	51.49	gold quality
cervix epithelium	UBERON:0004801	51.39	gold quality
parietal pleura	UBERON:0002400	50.73	gold quality
ventricular zone	UBERON:0003053	50.42	gold quality
pleura	UBERON:0000977	50.38	gold quality
visceral pleura	UBERON:0002401	50.30	gold quality
quadriceps femoris	UBERON:0001377	50.05	gold quality
hair follicle	UBERON:0002073	49.99	gold quality
stromal cell of endometrium	CL:0002255	49.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting PKDREJ, 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-3646	100.00	73.56	5283
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-4312	99.34	67.30	511
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-1285-5P	98.01	68.71	779
HSA-MIR-512-5P	97.47	66.48	591
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-6089	89.72	61.35	324

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	pkd1a	ENSDARG00000030417
danio_rerio	pkd1l2b	ENSDARG00000088121
danio_rerio	pkd1l2b	ENSDARG00000101214
danio_rerio	pkd1l2a	ENSDARG00000105344
mus_musculus	Pkdrej	ENSMUSG00000052496
rattus_norvegicus	Pkdrej	ENSRNOG00000029591
drosophila_melanogaster	Pkd2	FBGN0041195
caenorhabditis_elegans		WBGENE00004035

Paralogs (10): PKD1 (ENSG00000008710), PKD2L2 (ENSG00000078795), PKD2L1 (ENSG00000107593), PKD2 (ENSG00000118762), PKD1L1 (ENSG00000158683), PKD1L2 (ENSG00000166473), LOXHD1 (ENSG00000167210), DENND5B (ENSG00000170456), DENND5A (ENSG00000184014), PKD1L3 (ENSG00000277481)

Protein

Protein identifiers

Polycystin family receptor for egg jelly — Q9NTG1 (reviewed: Q9NTG1)

Alternative names: PKD and REJ homolog, Polycystic kidney disease and receptor for egg jelly-related protein

All UniProt accessions (1): Q9NTG1

UniProt curated annotations — full annotation on UniProt →

Function. Testis-specific protein that controls sperm transport and the timing of zona pellucida-evoked exocytosis of the sperm acrosome.

Subcellular location. Cell membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome membrane. Nucleus.

Tissue specificity. Exclusively expressed in testis.

Similarity. Belongs to the polycystin family.

RefSeq proteins (1): NP_006062* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000203	GPS	Conserved_site
IPR001024	PLAT/LH2_dom	Domain
IPR002859	PKD/REJ-like	Domain
IPR003915	PKD_2	Family
IPR013122	PKD1_2_channel	Domain
IPR014010	REJ_dom	Domain
IPR036392	PLAT/LH2_dom_sf	Homologous_superfamily
IPR042060	PLAT_polycystin1	Domain
IPR046791	Polycystin_dom	Domain
IPR051223	Polycystin	Family

Pfam: PF01477, PF02010, PF08016, PF20519

UniProt features (61 total): glycosylation site 17, topological domain 12, sequence variant 12, transmembrane region 11, compositionally biased region 3, domain 2, region of interest 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NTG1-F1	71.25	0.04

Functional residue map

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

Glycosylation sites (17): 197, 242, 295, 306, 345, 349, 481, 674, 849, 890, 923, 939, 958, 965, 1836, 1893, 1944

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 74 (showing top): GOBP_SINGLE_FERTILIZATION, GOCC_SECRETORY_GRANULE, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_REGULATION_OF_ACROSOME_REACTION, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_ACROSOME_REACTION, GOBP_FERTILIZATION, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (4): acrosome reaction (GO:0007340), detection of mechanical stimulus (GO:0050982), regulation of acrosome reaction (GO:0060046), calcium ion transmembrane transport (GO:0070588)

GO Molecular Function (3): calcium channel activity (GO:0005262), calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (6): acrosomal membrane (GO:0002080), nucleus (GO:0005634), membrane (GO:0016020), sperm plasma membrane (GO:0097524), plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane fusion involved in acrosome reaction	1
single fertilization	1
reproductive process	1
acrosomal vesicle exocytosis	1
detection of external stimulus	1
detection of abiotic stimulus	1
response to mechanical stimulus	1
acrosome reaction	1
regulation of reproductive process	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
metal ion binding	1
binding	1
acrosomal vesicle	1
secretory granule membrane	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
plasma membrane	1
membrane	1
cell periphery	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PKDREJ	ZP3	P21754	939
PKDREJ	REDIC1	Q86WS4	594
PKDREJ	ZFAND4	Q86XD8	590
PKDREJ	CDPF1	Q6NVV7	575
PKDREJ	C9orf43	Q8TAL5	574
PKDREJ	ZAN	Q9Y493	567
PKDREJ	FAM209A	Q5JX71	561
PKDREJ	SPATA16	Q9BXB7	561
PKDREJ	IZUMO1	Q8IYV9	538
PKDREJ	SPATA31G1	Q5VYM1	534
PKDREJ	MAGEB16	A2A368	531
PKDREJ	TMCO5A	Q8N6Q1	506
PKDREJ	ROPN1L	Q96C74	496
PKDREJ	CRISP2	P16562	491
PKDREJ	IZUMO3	Q5VZ72	491

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ERBB2	NDUFA4	psi-mi:“MI:0914”(association)	0.530
PKDREJ	CNPY3	psi-mi:“MI:0915”(physical association)	0.400
PKDREJ	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (10): PKDREJ (Affinity Capture-MS), PKDREJ (Proximity Label-MS), PKDREJ (Proximity Label-MS), PKDREJ (Affinity Capture-MS), PKDREJ (Cross-Linking-MS (XL-MS)), PKDREJ (Affinity Capture-MS), PKDREJ (Affinity Capture-MS), PKDREJ (Co-fractionation), PKDREJ (Two-hybrid), PKDREJ (Two-hybrid)

ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, D3ZT86, D3ZWJ9, D4A929, F8W3R9, G7PWZ3, I6M4H4, O08852, O43157, O43278, O75074, O88204, P17813, P49000, P59383, Q04912, Q17R55, Q499Z3, Q4R3B7, Q4TUC0, Q5ND34, Q62190, Q63961, Q6AXX1, Q76MJ5, Q7TN88, Q7TQH7, Q7Z442, Q7Z4F1, Q80W87, Q80YN4, Q866Y3, Q86VZ4, Q8BHW9, Q8BMN4, Q8BYI8, Q8BZT7

Diamond homologs: A2RSQ0, B8UU59, C8YR32, E7FKV8, G3V7Q0, O08852, O16025, P09917, P12527, P48999, P51399, P98161, Q09624, Q2EG98, Q6IQ26, Q6NXD8, Q6PAL8, Q6ZUT9, Q7TN88, Q7Z442, Q7Z443, Q8IVV2, Q8R526, Q8TDX9, Q9NTG1, Q9Z0T6, P39654

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	312
Likely benign	34
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

351 predictions. Top by Δscore:

Variant	Effect	Δscore
22:46262467:T:TA	donor_gain	1.0000
22:46258967:C:G	acceptor_gain	0.9800
22:46258966:TCTG:T	acceptor_gain	0.9600
22:46262545:G:A	donor_gain	0.9400
22:46258965:CT:C	acceptor_gain	0.9100
22:46262133:T:TA	donor_gain	0.9100
22:46258964:CCT:C	acceptor_gain	0.8800
22:46258965:CTC:C	acceptor_gain	0.8800
22:46258963:TCCT:T	acceptor_gain	0.8200
22:46258964:CCTC:C	acceptor_gain	0.8200
22:46258967:C:CC	acceptor_gain	0.8200
22:46258974:C:CT	acceptor_gain	0.8200
22:46259389:TTAAA:T	donor_gain	0.8100
22:46259390:TAAAT:T	donor_gain	0.8100
22:46259391:AAATA:A	donor_gain	0.8100
22:46262208:C:A	donor_gain	0.7900
22:46262473:T:C	donor_gain	0.7800
22:46258962:TTCCT:T	acceptor_gain	0.7700
22:46261725:G:C	donor_gain	0.7600
22:46261921:T:TA	donor_gain	0.7400
22:46261939:A:C	donor_gain	0.7200
22:46262551:A:AC	donor_gain	0.7200
22:46262552:C:CC	donor_gain	0.7200
22:46256918:AGCTG:A	acceptor_gain	0.7100
22:46261989:T:C	donor_gain	0.7000
22:46257184:C:CT	donor_gain	0.6900
22:46257185:T:TT	donor_gain	0.6900
22:46256827:AGTT:A	acceptor_gain	0.6800
22:46256828:GTTG:G	acceptor_gain	0.6800
22:46256815:CAGC:C	acceptor_gain	0.6600

AlphaMissense

14837 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:46262546:C:A	W259C	0.998
22:46262546:C:G	W259C	0.998
22:46262537:G:C	F262L	0.995
22:46262537:G:T	F262L	0.995
22:46262539:A:G	F262L	0.995
22:46262504:C:A	W273C	0.993
22:46262504:C:G	W273C	0.993
22:46259024:A:C	S1433R	0.992
22:46259024:A:T	S1433R	0.992
22:46259026:T:G	S1433R	0.992
22:46262548:A:G	W259R	0.992
22:46262548:A:T	W259R	0.992
22:46258495:A:G	W1610R	0.991
22:46258495:A:T	W1610R	0.991
22:46259126:G:C	S1399R	0.991
22:46259126:G:T	S1399R	0.991
22:46259128:T:G	S1399R	0.991
22:46259398:A:G	W1309R	0.991
22:46259398:A:T	W1309R	0.991
22:46262577:C:G	C249S	0.991
22:46262578:A:T	C249S	0.991
22:46261583:A:C	F580L	0.990
22:46261583:A:T	F580L	0.990
22:46261585:A:G	F580L	0.990
22:46262578:A:G	C249R	0.990
22:46262192:C:A	W377C	0.989
22:46262192:C:G	W377C	0.989
22:46259209:A:G	W1372R	0.987
22:46259209:A:T	W1372R	0.987
22:46262353:A:G	S324P	0.986

dbSNP variants (sampled 300 via entrez): RS1000293605 (22:46264483 C>G,T), RS1000508109 (22:46263291 C>G), RS1000609112 (22:46257010 C>T), RS1001025820 (22:46261896 A>G), RS1001026746 (22:46263493 G>A,T), RS1001378993 (22:46260534 C>A,G), RS1001597668 (22:46260245 G>A,T), RS1001859764 (22:46265203 T>A,C), RS1001931423 (22:46258751 C>A), RS1003235279 (22:46255689 C>G,T), RS1003306627 (22:46256846 C>T), RS1003384784 (22:46257706 G>C), RS1003684415 (22:46261789 C>T), RS1003930575 (22:46255301 C>T), RS1003937627 (22:46263965 T>C)

Disease associations

OMIM: gene MIM:604670 | 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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	decreases methylation	1
theaflavin-3,3’-digallate	affects expression	1
Arsenic	affects methylation	1

Clinical trials (associated diseases)

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