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Aliases for PDZD9 Gene

Aliases for PDZD9 Gene

  • PDZ Domain Containing 9 2 3 5
  • C16orf65 3 4
  • PDZ Domain-Containing Protein C16orf65 3
  • Chromosome 16 Open Reading Frame 65 2
  • PDZ Domain-Containing Protein 9 3

External Ids for PDZD9 Gene

Previous HGNC Symbols for PDZD9 Gene

  • C16orf65

Previous GeneCards Identifiers for PDZD9 Gene

  • GC16M020239

Summaries for PDZD9 Gene

GeneCards Summary for PDZD9 Gene

PDZD9 (PDZ Domain Containing 9) is a Protein Coding gene. Diseases associated with PDZD9 include Mitochondrial Complex Iii Deficiency.

Additional gene information for PDZD9 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZD9 Gene

Genomics for PDZD9 Gene

GeneHancer (GH) Regulatory Elements for PDZD9 Gene

Promoters and enhancers for PDZD9 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J022006 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 650.4 -7.1 -7103 2.9 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZNF48 YY1 ZNF213 ZNF548 ATF7 MOSMO GC16P022009 ENSG00000275445 PDZD9 SMG1P4 ENSG00000260905 SMG1P1 NPIPB5 SMG1P3 NPIPB4
GH16J022000 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.7 -0.4 -420 1.5 MLX ZFP64 ARID4B ZNF2 ZNF48 YY1 SLC30A9 ZNF121 GLIS2 ZNF213 PDZD9 EEF2K MOSMO
GH16J022187 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.3 -189.7 -189743 6.5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 GC16P022190 POLR3E PDZD9 ENSG00000260306 UQCRC2 NPIPB5 ENSG00000260973 NPIPB3 MFSD13B NPIPB4
GH16J022296 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 10.2 -296.7 -296655 3.2 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 POLR3E TRL-AAG2-4 NPIPB4 SMG1P3 NPIPB3 NPIPB5 SMG1P1 MOSMO RRN3P1 SMG1P4
GH16J021819 Promoter/Enhancer 1.5 Ensembl ENCODE 10.5 +180.8 180826 1.8 HDGF SMAD1 ZFP64 SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF207 ZNF143 RRN3P1 NPIPB4 NPIPB5 NPIPB3 SMG1P3 ENSG00000260635 SMG1P4 SMG1P1 ENSG00000260905 POLR3E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDZD9 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PDZD9 Gene

Genomic Locations for PDZD9 Gene
43,588 bases
Minus strand
17,248 bases
Minus strand

Genomic View for PDZD9 Gene

Genes around PDZD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZD9 Gene

Proteins for PDZD9 Gene

  • Protein details for PDZD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    PDZ domain-containing protein 9
    Protein Accession:
    Secondary Accessions:
    • F5GWW8

    Protein attributes for PDZD9 Gene

    264 amino acids
    Molecular mass:
    29904 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PDZD9 Gene


neXtProt entry for PDZD9 Gene

Post-translational modifications for PDZD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZD9 Gene

No data available for DME Specific Peptides for PDZD9 Gene

Domains & Families for PDZD9 Gene

Gene Families for PDZD9 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PDZD9 Gene


Suggested Antigen Peptide Sequences for PDZD9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDZD9: view

No data available for UniProtKB/Swiss-Prot for PDZD9 Gene

Function for PDZD9 Gene

Phenotypes From GWAS Catalog for PDZD9 Gene

genes like me logo Genes that share phenotypes with PDZD9: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PDZD9 Gene

Localization for PDZD9 Gene

Subcellular locations from

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 PDZD9 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PDZD9 Gene

Pathways & Interactions for PDZD9 Gene

SuperPathways for PDZD9 Gene

No Data Available

Interacting Proteins for PDZD9 Gene

Selected Interacting proteins: Q8IXQ8-PDZD9_HUMAN for PDZD9 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for PDZD9 Gene


No data available for Pathways by source and SIGNOR curated interactions for PDZD9 Gene

Drugs & Compounds for PDZD9 Gene

No Compound Related Data Available

Transcripts for PDZD9 Gene

mRNA/cDNA for PDZD9 Gene

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

Unigene Clusters for PDZD9 Gene

PDZ domain containing 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDZD9 Gene

No ASD Table

Relevant External Links for PDZD9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDZD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDZD9 Gene

This gene is overexpressed in Testis (x24.4).

Protein differential expression in normal tissues from HIPED for PDZD9 Gene

This gene is overexpressed in Monocytes (39.0) and Tlymphocyte (30.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDZD9 Gene

Protein tissue co-expression partners for PDZD9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDZD9 Gene:


SOURCE GeneReport for Unigene cluster for PDZD9 Gene:


Evidence on tissue expression from TISSUES for PDZD9 Gene

  • Adrenal gland(2)
  • Gall bladder(2)
  • Heart(2)
  • Intestine(2)
  • Kidney(2)
  • Liver(2)
  • Muscle(2)
  • Pancreas(2)
  • Skin(2)
  • Stomach(2)
  • Thyroid gland(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with PDZD9: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZD9 Gene

Orthologs for PDZD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDZD9 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDZD9 34 33
  • 98.99 (n)
(Bos Taurus)
Mammalia PDZD9 34 33
  • 85.76 (n)
(Canis familiaris)
Mammalia PDZD9 34 33
  • 85.52 (n)
(Rattus norvegicus)
Mammalia Pdzd9 33
  • 78.76 (n)
(Mus musculus)
Mammalia Pdzd9 16 34 33
  • 77.26 (n)
(Ornithorhynchus anatinus)
Mammalia PDZD9 34
  • 44 (a)
(Monodelphis domestica)
Mammalia PDZD9 34
  • 41 (a)
(Anolis carolinensis)
Reptilia PDZD9 34
  • 30 (a)
Species where no ortholog for PDZD9 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)
  • chicken (Gallus gallus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for PDZD9 Gene

Gene Tree for PDZD9 (if available)
Gene Tree for PDZD9 (if available)
Evolutionary constrained regions (ECRs) for PDZD9: view image

Paralogs for PDZD9 Gene

No data available for Paralogs for PDZD9 Gene

Variants for PDZD9 Gene

Sequence variations from dbSNP and Humsavar for PDZD9 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs374661051 pathogenic, Mitochondrial complex III deficiency, nuclear type 5 21,965,440(-) C/A/G/T genic_downstream_transcript_variant, intron_variant
rs745553184 pathogenic, not provided 21,971,611(-) TACCGTGGAGGTA/ genic_downstream_transcript_variant, intron_variant
rs778618710 likely-pathogenic, not provided 21,962,488(-) T/C genic_downstream_transcript_variant, intron_variant
rs143080682 likely-benign, not specified 21,958,582(-) A/T genic_downstream_transcript_variant, intron_variant
rs146640786 likely-benign, not specified 21,965,475(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDZD9 Gene

Variant ID Type Subtype PubMed ID
nsv7280 OTHER inversion 18451855
nsv499139 OTHER inversion 21111241
nsv428322 CNV gain 18775914
nsv1140248 OTHER inversion 24896259
nsv1077770 OTHER inversion 25765185
nsv1048054 CNV gain 25217958
esv998989 OTHER inversion 20482838
esv3638193 CNV gain 21293372
esv34544 CNV gain 17911159
esv34235 CNV gain 17911159
esv3368991 OTHER inversion 20981092
dgv47n16 OTHER inversion 17901297
dgv3n1 OTHER inversion 15895083

Variation tolerance for PDZD9 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDZD9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZD9 Gene

Disorders for PDZD9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDZD9 Gene - From: GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PDZD9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDZD9

genes like me logo Genes that share disorders with PDZD9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDZD9 Gene

Publications for PDZD9 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for PDZD9 Gene

Sources for PDZD9 Gene

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