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Aliases for PDZD3 Gene

Aliases for PDZD3 Gene

  • PDZ Domain Containing 3 2 3
  • IKEPP 3 4 6
  • Natrium-Phosphate Cotransporter IIa C-Terminal-Associated Protein 2 3 4
  • Na/Pi Cotransporter C-Terminal-Associated Protein 2 3 4
  • Sodium-Hydrogen Exchanger Regulatory Factor 4 3 4
  • Intestinal And Kidney-Enriched PDZ Protein 3 4
  • PDZ Domain-Containing Protein 2 3 4
  • PDZ Domain-Containing Protein 3 3 4
  • PDZ Domain Containing 2 2 3
  • NaPi-Cap2 3 4
  • NHERF-4 3 4
  • NHERF4 3 4
  • PDZK2 3 4
  • Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF4 3
  • Intestinal And Kidney Enriched PDZ Protein 3

External Ids for PDZD3 Gene

Previous HGNC Symbols for PDZD3 Gene

  • PDZK2

Previous GeneCards Identifiers for PDZD3 Gene

  • GC11P118559
  • GC11P119056
  • GC11P114995

Summaries for PDZD3 Gene

Entrez Gene Summary for PDZD3 Gene

  • Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]

GeneCards Summary for PDZD3 Gene

PDZD3 (PDZ Domain Containing 3) is a Protein Coding gene. Diseases associated with PDZD3 include secretory diarrhea and cystic fibrosis. GO annotations related to this gene include protein C-terminus binding and guanylate cyclase inhibitor activity. An important paralog of this gene is SLC9A3R1.

UniProtKB/Swiss-Prot for PDZD3 Gene

  • Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZD3 Gene

Genomics for PDZD3 Gene

Regulatory Elements for PDZD3 Gene

Genomic Location for PDZD3 Gene

Start:
119,185,418 bp from pter
End:
119,190,223 bp from pter
Size:
4,806 bases
Orientation:
Plus strand

Genomic View for PDZD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDZD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZD3 Gene

Proteins for PDZD3 Gene

  • Protein details for PDZD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UT5-NHRF4_HUMAN
    Recommended name:
    Na(+)/H(+) exchange regulatory cofactor NHE-RF4
    Protein Accession:
    Q86UT5
    Secondary Accessions:
    • Q8N6R4
    • Q8NAW7
    • Q8NEX7
    • Q9H5Z3

    Protein attributes for PDZD3 Gene

    Size:
    571 amino acids
    Molecular mass:
    61032 Da
    Quaternary structure:
    • Interacts with the C-terminal region of GUCY2C. Interacts with the C-terminal region of SLC34A1. Interacts with the C-terminal region SLC9A3 and the interactions decrease in response to elevated calcium ion levels.

    Three dimensional structures from OCA and Proteopedia for PDZD3 Gene

    Alternative splice isoforms for PDZD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDZD3 Gene

Proteomics data for PDZD3 Gene at MOPED

Post-translational modifications for PDZD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZD3 Gene

Antibody Products

No data available for DME Specific Peptides for PDZD3 Gene

Domains for PDZD3 Gene

Protein Domains for PDZD3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PDZD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UT5

UniProtKB/Swiss-Prot:

NHRF4_HUMAN :
  • Q86UT5
Domain:
  • Contains 4 PDZ (DHR) domains.
genes like me logo Genes that share domains with PDZD3: view

No data available for Gene Families for PDZD3 Gene

Function for PDZD3 Gene

Molecular function for PDZD3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions.

Gene Ontology (GO) - Molecular Function for PDZD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11950846
GO:0008022 protein C-terminus binding IPI 11950846
GO:0008200 ion channel inhibitor activity TAS 11950846
GO:0030251 guanylate cyclase inhibitor activity IDA 11950846
genes like me logo Genes that share ontologies with PDZD3: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDZD3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PDZD3 Gene

Localization for PDZD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZD3 Gene

Cell membrane; Peripheral membrane protein. Cytoplasm. Note=Preferentially accumulates at the apical surface and ileal brush border of intestinal epithelial cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDZD3 Gene COMPARTMENTS Subcellular localization image for PDZD3 gene
Compartment Confidence
cytosol 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PDZD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS 11950846
GO:0005903 brush border IDA 19088451
GO:0035003 subapical complex IDA 11950846
GO:0045177 apical part of cell IDA 11950846
genes like me logo Genes that share ontologies with PDZD3: view

Pathways for PDZD3 Gene

SuperPathways for PDZD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDZD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport NAS 11950846
GO:0006833 water transport NAS 11950846
GO:0007168 receptor guanylyl cyclase signaling pathway IC 11950846
GO:0009636 response to toxic substance TAS 11950846
GO:0019934 cGMP-mediated signaling NAS 11950846
genes like me logo Genes that share ontologies with PDZD3: view

No data available for Pathways by source for PDZD3 Gene

Transcripts for PDZD3 Gene

Unigene Clusters for PDZD3 Gene

PDZ domain containing 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDZD3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDZD3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5: -
SP6: -
SP7: - - -
SP8: - - - - -
SP9: - -
SP10: -
SP11:

Relevant External Links for PDZD3 Gene

GeneLoc Exon Structure for
PDZD3
ECgene alternative splicing isoforms for
PDZD3

Expression for PDZD3 Gene

mRNA expression in normal human tissues for PDZD3 Gene

mRNA differential expression in normal tissues according to GTEx for PDZD3 Gene

This gene is overexpressed in Colon - Transverse (20.2), Kidney - Cortex (13.4), and Small Intestine - Terminal Ileum (13.0).

Protein differential expression in normal tissues for PDZD3 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PDZD3 Gene

SOURCE GeneReport for Unigene cluster for PDZD3 Gene Hs.374726

mRNA Expression by UniProt/SwissProt for PDZD3 Gene

Q86UT5-NHRF4_HUMAN
Tissue specificity: Expressed in kidney and the gastrointestinal tract. Not detected in brain, heart, skeletal muscle or cells of hematopoietic origin.
genes like me logo Genes that share expressions with PDZD3: view

Expression partners for PDZD3 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PDZD3 Gene

Orthologs for PDZD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDZD3 35
  • 86.27 (n)
  • 82.77 (a)
PDZD3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDZD3 35
  • 86.27 (n)
  • 82.77 (a)
PDZD3 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdzd3 35
  • 82.8 (n)
  • 82.13 (a)
Pdzd3 16
Pdzd3 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDZD3 35
  • 99.08 (n)
  • 98.81 (a)
PDZD3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdzd3 35
  • 83.13 (n)
  • 81.53 (a)
oppossum
(Monodelphis domestica)
Mammalia PDZD3 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZD3 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZD3 35
  • 59.06 (n)
  • 50.66 (a)
PDZD3 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDZD3 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzd3 35
  • 54.72 (n)
  • 49.58 (a)
zebrafish
(Danio rerio)
Actinopterygii pdzd3a 35
  • 50.72 (n)
  • 40.32 (a)
pdzd3a 36
  • 35 (a)
OneToMany
pdzd3b 36
  • 32 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sip1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
Species with no ortholog for PDZD3:
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDZD3 Gene

ENSEMBL:
Gene Tree for PDZD3 (if available)
TreeFam:
Gene Tree for PDZD3 (if available)

Paralogs for PDZD3 Gene

Paralogs for PDZD3 Gene

Selected SIMAP similar genes for PDZD3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PDZD3: view

Variants for PDZD3 Gene

Sequence variations from dbSNP and Humsavar for PDZD3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1815811 -- 119,188,695(+) GCCCC(A/G)GGGCA missense, reference, nc-transcript-variant, downstream-variant-500B
rs3901179 -- 119,188,255(-) GCCCA(C/G)GGCCA intron-variant, utr-variant-3-prime, downstream-variant-500B
rs4616051 -- 119,188,410(-) CCAGC(C/T)TGCAT synonymous-codon, reference, nc-transcript-variant, utr-variant-3-prime, downstream-variant-500B
rs7929799 -- 119,184,653(+) tacat(A/G)gcagc upstream-variant-2KB
rs10892332 -- 119,185,525(+) CAGGA(A/G)AAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDZD3 Gene

Variant ID Type Subtype PubMed ID
nsv468879 CNV Loss 19166990

Relevant External Links for PDZD3 Gene

HapMap Linkage Disequilibrium report
PDZD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZD3 Gene

Disorders for PDZD3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PDZD3 Gene in MalaCards »

(2) Diseases for PDZD3 Gene including...

(1) University of Copenhagen DISEASES for PDZD3 Gene

genes like me logo Genes that share disorders with PDZD3: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships , Genatlas and External Links for PDZD3 Gene

Publications for PDZD3 Gene

  1. A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor. (PMID: 11950846) Scott R.O. … Milgram S.L. (J. Biol. Chem. 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism. (PMID: 19088451) Zachos N.C. … Donowitz M. (Cell. Physiol. Biochem. 2008) 3 4
  5. Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction. (PMID: 22627094) Lee J.H. … Yoon J.S. (Cell. Signal. 2012) 3

Products for PDZD3 Gene

  • Addgene plasmids for PDZD3

Sources for PDZD3 Gene

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