Aliases for PDZD9 Gene

Aliases for PDZD9 Gene

  • PDZ Domain Containing 9 2 3 5
  • PDZ Domain-Containing Protein 9 3 4
  • C16orf65 3 4
  • PDZ Domain-Containing Protein C16orf65 3
  • Chromosome 16 Open Reading Frame 65 2
  • MGC50721 2
  • PDZD9 5

External Ids for PDZD9 Gene

Previous HGNC Symbols for PDZD9 Gene

  • C16orf65

Previous GeneCards Identifiers for PDZD9 Gene

  • GC16M021996
  • 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 and Spinal Muscular Atrophy, Type Iii.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDZD9 Gene

Genomics for PDZD9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDZD9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDZD9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDZD9

Genomic Locations for PDZD9 Gene

Genomic Locations for PDZD9 Gene
43,597 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:
  • PDZ domain-containing protein 9 (PDZD9_HUMAN)
genes like me logo Genes that share domains with PDZD9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDZD9 Gene

Function for PDZD9 Gene

Phenotypes From GWAS Catalog for PDZD9 Gene

Gene Ontology (GO) - Molecular Function for PDZD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PDZD9: view
genes like me logo Genes that share phenotypes with PDZD9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZD9

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
cytosol 2
nucleus 1
cytoskeleton 0

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

PathCards logo

SuperPathways for PDZD9 Gene

No Data Available

Interacting Proteins for PDZD9 Gene

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

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 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZD9

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

No ASD Table

Relevant External Links for PDZD9 Gene

GeneLoc Exon Structure for

Expression for PDZD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDZD9

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 30 31
  • 98.99 (n)
(Bos Taurus)
Mammalia PDZD9 30 31
  • 85.76 (n)
(Canis familiaris)
Mammalia PDZD9 30 31
  • 85.52 (n)
(Rattus norvegicus)
Mammalia Pdzd9 30
  • 78.76 (n)
(Mus musculus)
Mammalia Pdzd9 30 17 31
  • 77.26 (n)
(Ornithorhynchus anatinus)
Mammalia PDZD9 31
  • 44 (a)
(Monodelphis domestica)
Mammalia PDZD9 31
  • 41 (a)
(Anolis carolinensis)
Reptilia PDZD9 31
  • 30 (a)
Species where no ortholog for PDZD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDZD9 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
674891 Likely Benign: not provided 21,971,873(-) A/G INTRON_VARIANT
675590 Benign: not provided 21,968,532(-) A/G INTRON_VARIANT
715678 Likely Benign: not provided 21,962,453(-) G/C INTRON_VARIANT
732802 Likely Benign: not provided 21,965,404(-) A/G INTRON_VARIANT
734842 Likely Benign: not provided 21,965,481(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PDZD9 Gene

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

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

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

(2) MalaCards diseases for PDZD9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
spinal muscular atrophy, type iii
  • sma3
- elite association - COSMIC cancer census association via MalaCards
Search PDZD9 in MalaCards View complete list of genes associated with diseases
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 sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4
  2. 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
  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
  4. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. (PMID: 30631154) Hu Q … Yang L (Cell research 2019) 3
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for PDZD9 Gene

Sources for PDZD9 Gene