Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10343
Gene name Gene Name - the full gene name approved by the HGNC.	Polycystin family receptor for egg jelly
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PKDREJ
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.	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, lipoxygen

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miRTarBase ID	miRNA	Experiments	Reference
MIRT724649	hsa-miR-504-5p	HITS-CLIP	19536157
MIRT724648	hsa-miR-4762-5p	HITS-CLIP	19536157
MIRT724647	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724646	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT724644	hsa-miR-3183	HITS-CLIP	19536157
MIRT724645	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT724643	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT724642	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT724641	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT724640	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT724639	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT724638	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT724637	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT724636	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT724635	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT724634	hsa-miR-4435	HITS-CLIP	19536157
MIRT724649	hsa-miR-504-5p	HITS-CLIP	19536157
MIRT724648	hsa-miR-4762-5p	HITS-CLIP	19536157
MIRT724647	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT724646	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT724644	hsa-miR-3183	HITS-CLIP	19536157
MIRT724645	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT724643	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT724642	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT724641	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT724640	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT724639	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT724638	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT724637	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT724636	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT724635	hsa-miR-642a-5p	HITS-CLIP	19536157
MIRT724634	hsa-miR-4435	HITS-CLIP	19536157
MIRT1237393	hsa-miR-1275	CLIP-seq
MIRT1237394	hsa-miR-1292	CLIP-seq
MIRT1237395	hsa-miR-1972	CLIP-seq
MIRT1237396	hsa-miR-2115	CLIP-seq
MIRT1237397	hsa-miR-214	CLIP-seq
MIRT1237398	hsa-miR-338-3p	CLIP-seq
MIRT1237399	hsa-miR-3619-5p	CLIP-seq
MIRT1237400	hsa-miR-4259	CLIP-seq
MIRT1237401	hsa-miR-4291	CLIP-seq
MIRT1237402	hsa-miR-4525	CLIP-seq
MIRT1237403	hsa-miR-4530	CLIP-seq
MIRT1237404	hsa-miR-4665-5p	CLIP-seq
MIRT1237405	hsa-miR-4723-5p	CLIP-seq
MIRT1237406	hsa-miR-4753-3p	CLIP-seq
MIRT1237407	hsa-miR-4768-5p	CLIP-seq
MIRT1237408	hsa-miR-512-5p	CLIP-seq
MIRT1237409	hsa-miR-625	CLIP-seq
MIRT1237410	hsa-miR-761	CLIP-seq
MIRT1237411	hsa-miR-922	CLIP-seq
MIRT2069862	hsa-miR-1252	CLIP-seq
MIRT2069863	hsa-miR-3611	CLIP-seq
MIRT2069864	hsa-miR-4312	CLIP-seq
MIRT2297162	hsa-miR-3194-3p	CLIP-seq
MIRT2297163	hsa-miR-4297	CLIP-seq
MIRT2297164	hsa-miR-4684-5p	CLIP-seq
MIRT2297165	hsa-miR-760	CLIP-seq
MIRT2297166	hsa-miR-942	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005262	Function	Calcium channel activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0007340	Process	Acrosome reaction	TAS	9949214
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0050982	Process	Detection of mechanical stimulus	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
604670	9015	ENSG00000130943

Protein

UniProt ID

Q9NTG1

Protein name

Polycystin family receptor for egg jelly (PKD and REJ homolog) (Polycystic kidney disease and receptor for egg jelly-related protein)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02010	REJ	243 → 712	REJ domain	Family
PF01477	PLAT	1232 → 1344	PLAT/LH2 domain	Domain
PF08016	PKD_channel	1748 → 2178	Polycystin cation channel	Family

Tissue specificity

TISSUE SPECIFICITY: Exclusively expressed in testis. {ECO:0000269|PubMed:9949214}.

Sequence

MRPGPALLLLGVGLSLSVGRLPLPPVPRGAQAAVSGAPGGLLRGAPGLGVRGGRALLSLR
PSAVRAGGAVLSGRGSLCFPHGGTGRRWYCLDLRVLLSAQRLPWPAAPALALVDLQLSAR
GGRLSLTWSVRLPRSPGRLAWAFRLRLLGPGAARPASPAARVSPRSAAPGPRPQQGFVAR
TECPTDGPARVMLQAVNSSSHRAVESSVSCQINACVIQRVRINTDQKGAPVRLSMQAEAT
INASVQLDCPAARAIAQYWQVFSVPAVGQAPDWTQPLDLPQLEIRNSPLFIHIPNNSLQW
GVYVFNFTVSITTGNPKMPEVKDSDAVYVWIVRSSLQAVMLGDANITANFTEQLILDGST
SSDPDADSPLQGLQFFWYCTTDPRNYGGDRIILGSKEVCHPEQANLKWPWASGPVLTLLP
ETLKGDHVYFFRMVIRKDSRTAFSDKRVHVLQGPKAIAHITCIENCERNFIVSDRFSLFL
NCTNCASRDFYKWSILSSSGGEMLFDWMGETVTGRNGAYLSIKAFAFRHFLEAEFSISLY
LACWSGVTSVFRHSFIINHGPQIGECKINPAKGIALITKFVVQCSNFRDKHVPLTYKIIV
SDLHSVGEISSVKENTLGTILYLGPQSTVPPSFLPVGMLASQYGLKIYAQVYDSLGAFSQ
VTLHATAQAPTDKNSSKTVLNQLLSFTVGPSSLLSTLIQKKDFLPAGYLLYIVASVLNNM
KTELPLRDDRVNLRKHLIDQSFLLPVSTLVEIGQVVMTITKLTQKPSEFTWDAQKRATMR
VWQANQALQEYQQKDKRFRSEQIEIVSTGILMSLSNILKMTSPHQVVKDPFYVIESLSDT
ILANKVPGNKTTSMRTPNFNMYVKKVEKWGINQLFRNEKHCRNCFYPTLNVSSVPGLSAN
GPISTMFCDFTNDLFPWLNDQENTSVEVSGFRMTGVADNGSVLEITPDVAEVYLVRKNLT
FAAFNLTVGPNSEVDGSLKKTTGGFSFQVDSTVLREVLVHIVTEVMVLFTVLVYTGSQIT
PTALVATFLVPHDIPPFASQSALFDPACTVKKARVVCLPVSLLQLIAQHSHSPHCTVSIV
LQAPRFVMKLNDKLVRISIFSVQCLDMYGIQSEWREGYCILGEKTSWYEVHCICKNVVRA
RRQLGTIGLTGIHLHTHYVMAKVIVIPNPVDLRLNIIKSLHQNPVTLFTVLFIILLYVGL
AFWALYRDEMDQHLRGHVIVLPDNDPYDNLCYLVTIFTGSRWGSGTRANVFVQLRGTVST
SDVHCLSHPHFTTLYRGSINTFLLTTKSDLGDIHSIRVWHNNEGRSPSWYLSRIKVENLF
SRHIWLFICQKWLSVDTTLDRTFHVTHPDERLTRKDFFFIDVSSNLRKNHMWFSIFASVV
AKTFNRLQRLSCCLAMLLSSLLCNIMFFNLNRQEQTESRERKYMRSMMIGIESVLITIPV
QLLITFLFTCSQRKPQADLKEVSPQKHPLMSEASEHWEEYLRKWHAYETAKVHPREVAKP
ASKGKPRLPKASPKATSKPKHRHRKAQIKTPETLGPNTNSNNNIEDDQDVHSEQHPSQKD
LQQLKKKPRIVLPWWCVYVAWFLVFATSSISSFFIVFYGLTYGYDKSIEWLFASFCSFCQ
SVLLVQPSKIILLSGFRTNKPKYCKNLSWSTKYKYTEIRLDGMRMHPEEMQRIHDQIVRI
RGTRMYQPLTEDEIRIFKRKKRIKRRALLFLSYILTHFIFLALLLILIVLLRHTDCFYYN
QFIRDRFSMDLATVTKLEDIYRWLNSVLLPLLHNDLNPTFLPESSSKILGLPLMRQVRAK
SSEKMCLPAEKFVQNSIRREIHCHPKYGIDPEDTKNYSGFWNEVDKQAIDESTNGFTYKP
QGTQWLYYSYGLLHTYGSGGYALYFFPEQQRFNSTLRLKELQESNWLDEKTWAVVLELTT
FNPDINLFCSISVIFEVSQLGVVNTSISLHSFSLADFDRKASAEIYLYVAILIFFLAYVV
DEGCIIMQERASYVRSVYNLLNFALKCIFTVLIVLFLRKHFLATGIIRFYLSNPEDFIPF
HAVSQVDHIMRIILGFLLFLTILKTLRYSRFFYDVRLAQRAIQAALPGICHMAFVVSVYF
FVYMAFGYLVFGQHEWNYSNLIHSTQTVFSYCVSAFQNTEFSNNRILGVLFLSSFMLVMI
CVLINLFQAVILSAYEEMKQPVYEEPSDEVEAMTYLCRKLRTMFSFLTSQSKAKDEPEFF
IDMLYGQPEKNSHRYLGLKTRNINGKKMVYLVV

Sequence length

2253

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)

PKDREJ (polycystin family receptor for egg jelly)