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Aliases for PKDREJ Gene

Aliases for PKDREJ Gene

  • Polycystin Family Receptor For Egg Jelly 2 3 5
  • Polycystic Kidney Disease (Polycystin) And REJ Homolog (Sperm Receptor For Egg Jelly Homolog, Sea Urchin) 2 3
  • Polycystin (PKD) Family Receptor For Egg Jelly 2 3
  • PKD And REJ Homolog 3 4
  • Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg Jelly, Sea Urchin Homolog)-Like 2
  • Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg Jelly Homolog, Sea Urchin)-Like 2
  • Polycystic Kidney Disease And Receptor For Egg Jelly-Related Protein 3

External Ids for PKDREJ Gene

Previous GeneCards Identifiers for PKDREJ Gene

  • GC22M043217
  • GC22M044863
  • GC22M044972
  • GC22M045030
  • GC22M046651
  • GC22M029595

Summaries for PKDREJ Gene

Entrez Gene Summary for PKDREJ 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, 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKDREJ Gene

PKDREJ (Polycystin Family Receptor For Egg Jelly) is a Protein Coding gene. Diseases associated with PKDREJ include Polycystic Kidney Disease and Kidney Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium channel activity. An important paralog of this gene is PKD1.

UniProtKB/Swiss-Prot for PKDREJ Gene

  • May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm.

Additional gene information for PKDREJ Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKDREJ Gene

Genomics for PKDREJ Gene

GeneHancer (GH) Regulatory Elements for PKDREJ Gene

Promoters and enhancers for PKDREJ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J046262 Promoter/Enhancer 0.9 Ensembl ENCODE 674.6 +0.4 398 0.3 MAX BACH1 SIN3A PKDREJ TTC38 CDPF1
GH22J046264 Enhancer 0.5 ENCODE 679.1 -0.9 -867 2 SP1 SOX5 GATAD2A RXRA HNF4G HNF4A PKDREJ TTC38
GH22J046263 Enhancer 0.5 ENCODE 650.7 +0.7 696 0.2 CTCF MAX ZNF143 BACH1 SIN3A EZH2 PKDREJ CDPF1
GH22J046294 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 36.2 -33.0 -33037 3.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B GTSE1 GTSE1-DT PIR50586 TTC38 PKDREJ CDPF1 TRMU FAM118A
GH22J046267 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 31 -5.0 -5002 2.3 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF207 SP3 TTC38 GC22P046269 PKDREJ RPS10P31 SMC1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PKDREJ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKDREJ gene promoter:
  • ER-alpha
  • CUTL1
  • HOXA5
  • SEF-1 (1)
  • IRF-7A
  • LCR-F1
  • AML1a
  • Evi-1

Genomic Locations for PKDREJ Gene

Genomic Locations for PKDREJ Gene
chr22:46,255,663-46,263,355
(GRCh38/hg38)
Size:
7,693 bases
Orientation:
Minus strand
chr22:46,651,560-46,659,219
(GRCh37/hg19)
Size:
7,660 bases
Orientation:
Minus strand

Genomic View for PKDREJ Gene

Genes around PKDREJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKDREJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKDREJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKDREJ Gene

Proteins for PKDREJ Gene

  • Protein details for PKDREJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTG1-PKDRE_HUMAN
    Recommended name:
    Polycystic kidney disease and receptor for egg jelly-related protein
    Protein Accession:
    Q9NTG1
    Secondary Accessions:
    • B1AJY3
    • O95850

    Protein attributes for PKDREJ Gene

    Size:
    2253 amino acids
    Molecular mass:
    255449 Da
    Quaternary structure:
    • May form homomultimers or heteromultimers in combination with an as yet unidentified subunits.

neXtProt entry for PKDREJ Gene

Post-translational modifications for PKDREJ Gene

  • Glycosylation at isoforms=1944, isoforms=1893, Asn1836, isoforms=965, Asn958, Asn939, Asn923, Asn890, Asn849, Asn674, isoforms=481, isoforms=349, Asn345, Asn306, isoforms=295, Asn242, and isoforms=197
  • Modification sites at PhosphoSitePlus

Other Protein References for PKDREJ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKDREJ Gene

Domains & Families for PKDREJ Gene

Gene Families for PKDREJ Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PKDREJ Gene

Suggested Antigen Peptide Sequences for PKDREJ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NTG1

UniProtKB/Swiss-Prot:

PKDRE_HUMAN :
  • Belongs to the polycystin family.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKDREJ: view

Function for PKDREJ Gene

Molecular function for PKDREJ Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
receptor for egg jelly related gene,with extensive homology with PKD1,exclusively expressed in testis

Phenotypes From GWAS Catalog for PKDREJ Gene

Gene Ontology (GO) - Molecular Function for PKDREJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PKDREJ: view
genes like me logo Genes that share phenotypes with PKDREJ: view

Animal Models for PKDREJ Gene

MGI Knock Outs for PKDREJ:

Animal Model Products

  • Taconic Biosciences Mouse Models for PKDREJ

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PKDREJ Gene

Localization for PKDREJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKDREJ Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKDREJ gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
cytosol 2
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PKDREJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 9949214
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PKDREJ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PKDREJ Gene

Pathways & Interactions for PKDREJ Gene

SuperPathways for PKDREJ Gene

No Data Available

Interacting Proteins for PKDREJ Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000253255%0d%0a9606.ENSP00000269571%0d%0a
Selected Interacting proteins: Q9NTG1-PKDRE_HUMAN ENSP00000253255 for PKDREJ Gene via IID STRING

Gene Ontology (GO) - Biological Process for PKDREJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007340 acrosome reaction TAS 9949214
GO:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with PKDREJ: view

No data available for Pathways by source and SIGNOR curated interactions for PKDREJ Gene

Drugs & Compounds for PKDREJ Gene

No Compound Related Data Available

Transcripts for PKDREJ Gene

mRNA/cDNA for PKDREJ Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PKDREJ Gene

Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKDREJ Gene

No ASD Table

Relevant External Links for PKDREJ Gene

GeneLoc Exon Structure for
PKDREJ
ECgene alternative splicing isoforms for
PKDREJ

Expression for PKDREJ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKDREJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKDREJ Gene

This gene is overexpressed in Testis (x15.2).

Protein differential expression in normal tissues from HIPED for PKDREJ Gene

This gene is overexpressed in Ovary (26.5), Liver (14.5), Spleen (8.8), Kidney (8.1), and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKDREJ Gene



Protein tissue co-expression partners for PKDREJ Gene

NURSA nuclear receptor signaling pathways regulating expression of PKDREJ Gene:

PKDREJ

SOURCE GeneReport for Unigene cluster for PKDREJ Gene:

Hs.241383

mRNA Expression by UniProt/SwissProt for PKDREJ Gene:

Q9NTG1-PKDRE_HUMAN
Tissue specificity: Exclusively expressed in testis.

Evidence on tissue expression from TISSUES for PKDREJ Gene

  • Kidney(3.4)
  • Blood(2.3)
  • Liver(2.3)
  • Urine(2.2)
genes like me logo Genes that share expression patterns with PKDREJ: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PKDREJ Gene

Orthologs for PKDREJ Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKDREJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKDREJ 34 33
  • 98.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PKDREJ 34 33
  • 74.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC101904413 33
  • 73.62 (n)
PKDREJ 34
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkdrej 16 34 33
  • 71.28 (n)
rat
(Rattus norvegicus)
Mammalia Pkdrej 33
  • 70.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PKDREJ 34
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 46 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
chicken
(Gallus gallus)
Aves PKDREJ 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKDREJ 34
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pkd1b 34
  • 10 (a)
ManyToMany
Species where no ortholog for PKDREJ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKDREJ Gene

ENSEMBL:
Gene Tree for PKDREJ (if available)
TreeFam:
Gene Tree for PKDREJ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKDREJ: view image

Paralogs for PKDREJ Gene

Paralogs for PKDREJ Gene

genes like me logo Genes that share paralogs with PKDREJ: view

Variants for PKDREJ Gene

Sequence variations from dbSNP and Humsavar for PKDREJ Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
VAR_036573 A breast cancer sample p.Ala669Gly
VAR_036574 A breast cancer sample p.Thr1875Ile
rs1000293605 -- 46,264,483(-) C/G/T upstream_transcript_variant
rs1000508109 -- 46,263,291(-) C/G coding_sequence_variant, missense_variant
rs1000609112 -- 46,257,010(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PKDREJ Gene

Variant ID Type Subtype PubMed ID
nsv834224 CNV loss 17160897
nsv829293 CNV gain 20364138
nsv829281 CNV gain 20364138
nsv820143 CNV loss 19587683
nsv589136 CNV gain 21841781
nsv428393 CNV gain 18775914
nsv1152661 OTHER inversion 26484159
nsv1126633 CNV deletion 24896259
nsv1072220 CNV deletion 25765185
esv2758844 CNV gain+loss 17122850
dgv2469n106 OTHER inversion 24896259

Variation tolerance for PKDREJ Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.95; 91.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKDREJ Gene

Human Gene Mutation Database (HGMD)
PKDREJ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKDREJ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKDREJ Gene

Disorders for PKDREJ Gene

MalaCards: The human disease database

(41) MalaCards diseases for PKDREJ Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKDREJ

genes like me logo Genes that share disorders with PKDREJ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKDREJ Gene

Publications for PKDREJ Gene

  1. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. (PMID: 9949214) Hughes J … Harris PC (Human molecular genetics 1999) 2 3 4 58
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 58
  3. Polycystin channels and kidney disease. (PMID: 11698076) Stayner C … Zhou J (Trends in pharmacological sciences 2001) 3 4 58
  4. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PMID: 10602361) Veldhuisen B … Peters DJ (European journal of human genetics : EJHG 1999) 3 22 58
  5. Perturbation of the mutated EGFR interactome identifies vulnerabilities and resistance mechanisms. (PMID: 24189400) Li J … Haura EB (Molecular systems biology 2013) 3 58

Products for PKDREJ Gene

Sources for PKDREJ Gene

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