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Aliases for PDZD8 Gene

Aliases for PDZD8 Gene

  • PDZ Domain Containing 8 2 3 5
  • Sarcoma Antigen NY-SAR-84/NY-SAR-104 3 4
  • PDZK8 3 4
  • PDZ Domain-Containing Protein 8 3

External Ids for PDZD8 Gene

Previous HGNC Symbols for PDZD8 Gene

  • PDZK8

Previous GeneCards Identifiers for PDZD8 Gene

  • GC10M119033
  • GC10M112670

Summaries for PDZD8 Gene

GeneCards Summary for PDZD8 Gene

PDZD8 (PDZ Domain Containing 8) is a Protein Coding gene.

UniProtKB/Swiss-Prot for PDZD8 Gene

  • Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406).

Additional gene information for PDZD8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZD8 Gene

Genomics for PDZD8 Gene

GeneHancer (GH) Regulatory Elements for PDZD8 Gene

Promoters and enhancers for PDZD8 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
GH10I117370 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 570.6 +2.0 1973 6.4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 E2F8 ZNF143 PDZD8 SLC18A2 PIR57034
GH10I117341 Enhancer 1.1 Ensembl ENCODE dbSUPER 31 +32.8 32806 1.6 HDGF ZSCAN4 EBF1 IRF4 CTBP1 GATA3 ARID3A NFATC1 ATF7 FOSL2 PDZD8 PIR57034
GH10I117344 Enhancer 1 Ensembl ENCODE dbSUPER 31.4 +29.3 29305 3 MAX ELF1 ZIC2 FOXA1 SP1 ATF4 PRDM6 GLIS1 SCRT2 ZBTB33 PDZD8 LOC105378500 SLC18A2 PIR57034
GH10I117408 Enhancer 1.1 ENCODE dbSUPER 24.5 -35.0 -34988 4.9 PKNOX1 SMAD1 FOXA2 ARNT DMAP1 NCOA2 TCF12 ZNF766 GATA2 NCOA1 PDZD8 SLC18A2 LOC105378500 LOC105378502
GH10I117360 Enhancer 1.3 Ensembl ENCODE dbSUPER 20 +11.2 11237 8.3 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 YY1 ATF7 REST ZNF623 SLC18A2 PDZD8 LOC105378500 PIR57034
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDZD8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDZD8 gene promoter:

Genomic Locations for PDZD8 Gene

Genomic Locations for PDZD8 Gene
chr10:117,277,274-117,375,467
(GRCh38/hg38)
Size:
98,194 bases
Orientation:
Minus strand
chr10:119,040,000-119,134,978
(GRCh37/hg19)

Genomic View for PDZD8 Gene

Genes around PDZD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZD8 Gene

Proteins for PDZD8 Gene

  • Protein details for PDZD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEN9-PDZD8_HUMAN
    Recommended name:
    PDZ domain-containing protein 8
    Protein Accession:
    Q8NEN9
    Secondary Accessions:
    • Q86WE0
    • Q86WE5
    • Q9UFF1

    Protein attributes for PDZD8 Gene

    Size:
    1154 amino acids
    Molecular mass:
    128563 Da
    Quaternary structure:
    • Interacts with MSN.
    • (Microbial infection) Interacts with HIV-1 Gag polyprotein p55.
    SequenceCaution:
    • Sequence=AAO65182.1; Type=Frameshift; Positions=421; Evidence={ECO:0000305};

neXtProt entry for PDZD8 Gene

Post-translational modifications for PDZD8 Gene

  • Ubiquitination at Lys49 and Lys158
  • Modification sites at PhosphoSitePlus

Other Protein References for PDZD8 Gene

No data available for DME Specific Peptides for PDZD8 Gene

Domains & Families for PDZD8 Gene

Gene Families for PDZD8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PDZD8 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PDZD8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEN9

UniProtKB/Swiss-Prot:

PDZD8_HUMAN :
  • The SMP-LBD domain is a barrel-like domain that binds phospholipids.
Domain:
  • The SMP-LBD domain is a barrel-like domain that binds phospholipids.
genes like me logo Genes that share domains with PDZD8: view

Function for PDZD8 Gene

Molecular function for PDZD8 Gene

UniProtKB/Swiss-Prot Function:
Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes (PubMed:29097544). PDZD8-dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer (PubMed:29097544). In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons (PubMed:29097544). Plays an indirect role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). May inhibit herpes simplex virus 1 infection at an early stage (PubMed:21549406).

Phenotypes From GWAS Catalog for PDZD8 Gene

Gene Ontology (GO) - Molecular Function for PDZD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PDZD8: view

Phenotypes for PDZD8 Gene

genes like me logo Genes that share phenotypes with PDZD8: view

Animal Model Products

miRNA for PDZD8 Gene

miRTarBase miRNAs that target PDZD8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDZD8 Gene

Localization for PDZD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZD8 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Localizes at mitochondria-endoplasmic reticulum contact sites. {ECO:0000269 PubMed:29097544}.

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 PDZD8 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDZD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane IDA 29097544
GO:0016020 membrane IDA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0044233 ER-mitochondrion membrane contact site IDA 29097544
genes like me logo Genes that share ontologies with PDZD8: view

Pathways & Interactions for PDZD8 Gene

SuperPathways for PDZD8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PDZD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0016032 viral process IEA --
GO:0022604 regulation of cell morphogenesis IMP 21834987
GO:0035556 intracellular signal transduction IEA --
GO:0051560 mitochondrial calcium ion homeostasis IDA 29097544
genes like me logo Genes that share ontologies with PDZD8: view

No data available for Pathways by source and SIGNOR curated interactions for PDZD8 Gene

Drugs & Compounds for PDZD8 Gene

(3) Additional Compounds for PDZD8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with PDZD8: view

Transcripts for PDZD8 Gene

Unigene Clusters for PDZD8 Gene

PDZ domain containing 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDZD8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for PDZD8 Gene

GeneLoc Exon Structure for
PDZD8
ECgene alternative splicing isoforms for
PDZD8

Expression for PDZD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDZD8 Gene

This gene is overexpressed in Pancreas (13.4) and Fetal Brain (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDZD8 Gene



Protein tissue co-expression partners for PDZD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDZD8 Gene:

PDZD8

SOURCE GeneReport for Unigene cluster for PDZD8 Gene:

Hs.501149

Evidence on tissue expression from TISSUES for PDZD8 Gene

  • Bone marrow(2)
genes like me logo Genes that share expression patterns with PDZD8: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZD8 Gene

Orthologs for PDZD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDZD8 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia PDZD8 34 33
  • 90.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDZD8 33 34
  • 89 (n)
mouse
(Mus musculus)
Mammalia Pdzd8 16 34 33
  • 87.29 (n)
rat
(Rattus norvegicus)
Mammalia Pdzd8 33
  • 86.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDZD8 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDZD8 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZD8 34 33
  • 70.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDZD8 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdzd8 33
  • 63.89 (n)
zebrafish
(Danio rerio)
Actinopterygii pdzd8 34 33
  • 60.86 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10362 34
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C53B4.4 34
  • 19 (a)
OneToOne
Species where no ortholog for PDZD8 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 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)
  • wheat (Triticum aestivum)

Evolution for PDZD8 Gene

ENSEMBL:
Gene Tree for PDZD8 (if available)
TreeFam:
Gene Tree for PDZD8 (if available)

Paralogs for PDZD8 Gene

No data available for Paralogs for PDZD8 Gene

Variants for PDZD8 Gene

Sequence variations from dbSNP and Humsavar for PDZD8 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000145569 -- 117,364,212(-) G/A intron_variant
rs1000157247 -- 117,364,456(-) T/C intron_variant
rs1000163174 -- 117,315,246(-) C/G intron_variant
rs1000177810 -- 117,334,881(-) C/A intron_variant
rs1000180248 -- 117,289,616(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDZD8 Gene

Variant ID Type Subtype PubMed ID
esv1007152 CNV deletion 20482838
esv2659578 CNV deletion 23128226
esv3577760 CNV gain 25503493
esv3624674 CNV gain 21293372
esv3624676 CNV loss 21293372
nsv7564 CNV insertion 18451855
nsv825578 CNV loss 20364138
nsv951855 CNV duplication 24416366
nsv951856 CNV duplication 24416366

Variation tolerance for PDZD8 Gene

Residual Variation Intolerance Score: 7.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDZD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZD8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZD8 Gene

Disorders for PDZD8 Gene

Additional Disease Information for PDZD8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PDZD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PDZD8 Gene

Publications for PDZD8 Gene

  1. PDZD8 is a novel Gag-interacting factor that promotes retroviral infection. (PMID: 20573829) Henning MS … Naghavi MH (Journal of virology 2010) 2 3 4 58
  2. ER-mitochondria tethering by PDZD8 regulates Ca2+ dynamics in mammalian neurons. (PMID: 29097544) Hirabayashi Y … Polleux F (Science (New York, N.Y.) 2017) 3 4 58
  3. Efficient human immunodeficiency virus (HIV-1) infection of cells lacking PDZD8. (PMID: 25771112) Zhang S … Sodroski J (Virology 2015) 3 4 58
  4. Contribution of PDZD8 to stabilization of the human immunodeficiency virus type 1 capsid. (PMID: 24554657) Guth CA … Sodroski J (Journal of virology 2014) 3 4 58
  5. PDZD8 is a novel moesin-interacting cytoskeletal regulatory protein that suppresses infection by herpes simplex virus type 1. (PMID: 21549406) Henning MS … Naghavi MH (Virology 2011) 3 4 58

Products for PDZD8 Gene

Sources for PDZD8 Gene

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