Human Gene PKDREJ (ENST00000253255.7_6) from GENCODE V47lift37
  Description: polycystin family receptor for egg jelly (from RefSeq NM_006071.2)
Gencode Transcript: ENST00000253255.7_6
Gencode Gene: ENSG00000130943.7_8
Transcript (Including UTRs)
   Position: hg19 chr22:46,651,560-46,659,240 Size: 7,681 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr22:46,652,458-46,659,219 Size: 6,762 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:46,651,560-46,659,240)mRNA (may differ from genome)Protein (2253 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PKDRE_HUMAN
DESCRIPTION: RecName: Full=Polycystic kidney disease and receptor for egg jelly-related protein; AltName: Full=PKD and REJ homolog; Flags: Precursor;
FUNCTION: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm.
SUBUNIT: May form homomultimers or heteromultimers in combination with an as yet unidentified subunits.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Exclusively expressed in testis.
SIMILARITY: Belongs to the polycystin family.
SIMILARITY: Contains 1 PLAT domain.
SIMILARITY: Contains 1 REJ domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PKDREJ
Diseases sorted by gene-association score: kidney disease (22), polycystic kidney disease (20), middle ear cholesterol granuloma (16), posterolateral myocardial infarction (15), pyelitis (12), tricuspid valve prolapse (9), renal tuberculosis (9), lymphocele (9), carotid artery dissection (8), polycystic kidney disease 2 (8), autosomal dominant polycystic kidney disease (7), pancreatic cystadenocarcinoma (7), polycystic kidney disease 3 (7), cerebral arterial disease (7), ascending cholangitis (6), orofaciodigital syndrome i (6), urogenital tuberculosis (6), chronic pyelonephritis (6), kidney angiomyolipoma (6), orbital cyst (6), polycystic kidney disease 4, with or without hepatic disease (6), autosomal genetic disease (6), polycystic liver disease (5), amyloid tumor (5), urethral diverticulum (5), xanthogranulomatous pyelonephritis (5), alstrom syndrome (5), urinary system disease (5), breast abscess (5), brachyolmia (5), retinal hemangioblastoma (4), hajdu-cheney syndrome (4), renal-hepatic-pancreatic dysplasia (4), osteogenesis imperfecta, type iv (4), urinary tract obstruction (4), cranio-facial dystonia (4), meige syndrome (4), renal hypodysplasia/aplasia 1 (1), visceral heterotaxy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.24 RPKM in Testis
Total median expression: 7.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.2021-0.105 Picture PostScript Text
3' UTR -274.70898-0.306 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000203 - GPS_dom
IPR008976 - Lipase_LipOase
IPR001024 - LipOase_LH2
IPR002859 - PKD/REJ-like
IPR013122 - PKD1_2_channel
IPR003915 - PKD_2
IPR014010 - REJ-like

Pfam Domains:
PF00520 - Ion transport protein
PF01477 - PLAT/LH2 domain
PF02010 - REJ domain
PF08016 - Polycystin cation channel

SCOP Domains:
49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)

ModBase Predicted Comparative 3D Structure on Q9NTG1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005262 calcium channel activity
GO:0005509 calcium ion binding

Biological Process:
GO:0006811 ion transport
GO:0007340 acrosome reaction
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AL137288 - Homo sapiens mRNA; cDNA DKFZp434F1516 (from clone DKFZp434F1516).
AF116458 - Homo sapiens polycystic kidney disease and receptor for egg jelly related protein (PKDREJ) mRNA, complete cds.
JD327432 - Sequence 308456 from Patent EP1572962.
JD222445 - Sequence 203469 from Patent EP1572962.
JD369622 - Sequence 350646 from Patent EP1572962.
JD438006 - Sequence 419030 from Patent EP1572962.
JD424808 - Sequence 405832 from Patent EP1572962.
JD215201 - Sequence 196225 from Patent EP1572962.
JD300594 - Sequence 281618 from Patent EP1572962.
JD390169 - Sequence 371193 from Patent EP1572962.
JD157808 - Sequence 138832 from Patent EP1572962.
JD243721 - Sequence 224745 from Patent EP1572962.
JD234697 - Sequence 215721 from Patent EP1572962.
JD515914 - Sequence 496938 from Patent EP1572962.
JD095710 - Sequence 76734 from Patent EP1572962.
JD182910 - Sequence 163934 from Patent EP1572962.
BC027601 - Homo sapiens polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like, mRNA (cDNA clone IMAGE:4839036).

-  Other Names for This Gene
  Alternate Gene Symbols: B1AJY3, ENST00000253255.1, ENST00000253255.2, ENST00000253255.3, ENST00000253255.4, ENST00000253255.5, ENST00000253255.6, NM_006071, O95850, PKDRE_HUMAN, Q9NTG1, uc317fkr.1, uc317fkr.2
UCSC ID: ENST00000253255.7_6
RefSeq Accession: NM_006071.2
Protein: Q9NTG1 (aka PKDRE_HUMAN or PKDR_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.