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Aliases for PDZD3 Gene

Aliases for PDZD3 Gene

  • PDZ Domain Containing 3 2 3 5
  • 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
  • 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
  • IKEPP 3 4
  • Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF4 3
  • Intestinal And Kidney Enriched PDZ Protein 3
  • Intestinal And Kidney-Enriched PDZ Protein 4

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. Among its related pathways are HIV Life Cycle and Uptake and actions of bacterial toxins. GO annotations related to this gene include protein C-terminus binding and guanylate cyclase inhibitor activity. An important paralog of this gene is PDZK1.

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

Enhancers for PDZD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F119217 1.3 Ensembl ENCODE 11.6 +32.9 32899 2.0 ATF1 PKNOX1 ARNT CREB3L1 SIN3A ZNF766 GATA2 FOS KLF13 KDM4B HINFP NLRX1 CBL CCDC84 TRAPPC4 PDZD3 ABCG4 DPAGT1 C2CD2L H2AFX
GH11F119257 1.2 Ensembl ENCODE 11 +75.9 75852 7.0 HDGF ELF3 PKNOX1 ATF1 RAD21 THRB RARA ETV6 ZHX2 CEBPB CBL RNU6-262P NLRX1 PDZD3 ABCG4 HMBS HINFP MFRP C1QTNF5 C2CD2L
GH11F119125 1 ENCODE 11.2 -59.2 -59241 2.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 ZNF263 HINFP HMBS VPS11 ABCG4 NLRX1 PDZD3 C2CD2L H2AFX PIR55037
GH11F119310 0.7 ENCODE 10.7 +125.4 125379 0.2 SCRT1 RFX1 ZBTB11 ZBTB40 NR2F2 ARID1B ZNF766 SMARCA4 SCRT2 IKZF1 RNF26 ENSG00000245385 MFRP C1QTNF5 ABCG4 PDZD3 NLRX1 PIR40709 GC11M119321
GH11F119265 0.5 Ensembl 11 +81.9 81866 3.4 ZNF664 NR2F2 TRIM28 RNU6-262P NLRX1 PDZD3 ABCG4 HINFP DPAGT1 C2CD2L H2AFX HMBS GC11M119252
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDZD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDZD3 Gene

Chromosome:
11
Start:
119,185,436 bp from pter
End:
119,190,223 bp from pter
Size:
4,788 bases
Orientation:
Plus strand

Genomic View for PDZD3 Gene

Genes around PDZD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for PDZD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDZD3 Gene

Domains & Families for PDZD3 Gene

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

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 15523054
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
genes like me logo Genes that share phenotypes with PDZD3: view

Animal Models for PDZD3 Gene

MGI Knock Outs for PDZD3:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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 (PubMed:11950846, PubMed:19088451).

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 PDZD3 gene
Compartment Confidence
plasma membrane 5
cytosol 5

Gene Ontology (GO) - Cellular Components for PDZD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS 11950846
GO:0005886 plasma membrane IEA --
GO:0005903 brush border IDA 19088451
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PDZD3: view

Pathways & Interactions for PDZD3 Gene

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

Pathways by source for PDZD3 Gene

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 SIGNOR curated interactions for PDZD3 Gene

Transcripts for PDZD3 Gene

Unigene Clusters for PDZD3 Gene

PDZ domain containing 3:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE for PDZD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (x20.2), Kidney - Cortex (x13.4), and Small Intestine - Terminal Ileum (x13.0).

Protein differential expression in normal tissues from HIPED for PDZD3 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDZD3 Gene



Protein tissue co-expression partners for PDZD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDZD3 Gene:

PDZD3

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 expression patterns with PDZD3: view

Primer Products

Orthologs for PDZD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDZD3 34 35
  • 99.08 (n)
cow
(Bos Taurus)
Mammalia PDZD3 34 35
  • 86.27 (n)
dog
(Canis familiaris)
Mammalia PDZD3 34 35
  • 86.27 (n)
rat
(Rattus norvegicus)
Mammalia Pdzd3 34
  • 83.13 (n)
mouse
(Mus musculus)
Mammalia Pdzd3 34 16 35
  • 82.8 (n)
oppossum
(Monodelphis domestica)
Mammalia PDZD3 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZD3 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZD3 34 35
  • 59.06 (n)
lizard
(Anolis carolinensis)
Reptilia PDZD3 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzd3 34
  • 54.72 (n)
zebrafish
(Danio rerio)
Actinopterygii pdzd3a 34 35
  • 50.72 (n)
pdzd3b 35
  • 32 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sip1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
ManyToMany
-- 35
  • 18 (a)
ManyToMany
Species where no ortholog for PDZD3 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)
  • 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

(5) 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
rs199476054 untested 119,183,746(+) ACCAA(A/C)CTTGC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs10750138 -- 119,184,366(+) GGATA(A/G)ACCTC downstream-variant-500B, upstream-variant-2KB
rs10790286 -- 119,183,779(+) TCTGA(C/T)TGTGT intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs10892332 -- 119,185,525(+) CAGGA(A/G)AAATC intron-variant, utr-variant-5-prime
rs10892333 -- 119,185,703(+) GCTCA(A/G)ATTTA intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv556468 CNV loss 21841781
nsv556467 CNV loss 21841781
nsv556466 CNV loss 21841781
nsv468879 CNV loss 19166990

Variation tolerance for PDZD3 Gene

Residual Variation Intolerance Score: 88.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDZD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZD3

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

Disorders for PDZD3 Gene

Relevant External Links for PDZD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDZD3

No disorders were found for PDZD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for PDZD3 Gene

Sources for PDZD3 Gene

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