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Aliases for PDZD7 Gene

Aliases for PDZD7 Gene

  • PDZ Domain Containing 7 2 3 5
  • Deafness, Autosomal Recessive 57 2 3
  • PDZK7 3 4
  • PDZ Domain-Containing Protein 7 3
  • DFNB57 3

External Ids for PDZD7 Gene

Previous HGNC Symbols for PDZD7 Gene

  • PDZK7
  • DFNB57

Previous GeneCards Identifiers for PDZD7 Gene

  • GC10M102758
  • GC10M102767
  • GC10M096407

Summaries for PDZD7 Gene

Entrez Gene Summary for PDZD7 Gene

  • This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for PDZD7 Gene

PDZD7 (PDZ Domain Containing 7) is a Protein Coding gene. Diseases associated with PDZD7 include Usher Syndrome, Type 2C and Usher Syndrome, Type 2A. An important paralog of this gene is WHRN.

Additional gene information for PDZD7 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDZD7 Gene

Genomics for PDZD7 Gene

Regulatory Elements for PDZD7 Gene

Enhancers for PDZD7 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
GH10H101014 1.4 Ensembl ENCODE dbSUPER 13 +16.1 16078 1.8 RB1 NFIB ZNF2 RAD21 GLIS2 ZNF366 SCRT2 ZNF143 FOS EGR2 PDZD7 LZTS2
GH10H100369 1.8 FANTOM5 ENCODE dbSUPER 9.7 +658.7 658714 6.8 MLX FEZF1 DMAP1 YY1 ZNF548 SP3 NFYC MEF2D GLIS1 NBN ENSG00000231188 PHBP9 SEC31B HIF1AN EBAG9P1 SPCS2P2 TPM4P1 LOC101927300 SCD CHUK
GH10H101828 1.7 FANTOM5 ENCODE dbSUPER 9.7 -799.8 -799827 4.4 HDGF PKNOX1 ARNT SIN3A ZNF2 ZBTB7B ZNF766 ZNF302 ZNF416 ZNF143 PPRC1 LDB1 GBF1 LZTS2 MRPL43 HPS6 NOLC1 MGEA5 SUFU ENSG00000272572
GH10H101692 1.5 FANTOM5 ENCODE 9.7 -663.2 -663191 3.1 HDGF ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 SP5 PPRC1 GBF1 MRPL43 MGEA5 LDB1 ENSG00000272572 HPS6 TWNK SLF2 SUFU
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDZD7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PDZD7 Gene

Genomic Locations for PDZD7 Gene
23,475 bases
Minus strand

Genomic View for PDZD7 Gene

Genes around PDZD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZD7 Gene

Proteins for PDZD7 Gene

  • Protein details for PDZD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    PDZ domain-containing protein 7
    Protein Accession:
    Secondary Accessions:
    • D5FJ77
    • Q8N321

    Protein attributes for PDZD7 Gene

    517 amino acids
    Molecular mass:
    55677 Da
    Quaternary structure:
    • Interacts with USH1G. Interacts with GPR98. Interacts with USH2A.

    Three dimensional structures from OCA and Proteopedia for PDZD7 Gene

    Alternative splice isoforms for PDZD7 Gene


neXtProt entry for PDZD7 Gene

Post-translational modifications for PDZD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDZD7 Gene

Domains & Families for PDZD7 Gene

Gene Families for PDZD7 Gene

Protein Domains for PDZD7 Gene


Suggested Antigen Peptide Sequences for PDZD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PDZD7: view

No data available for UniProtKB/Swiss-Prot for PDZD7 Gene

Function for PDZD7 Gene

Phenotypes From GWAS Catalog for PDZD7 Gene

Gene Ontology (GO) - Molecular Function for PDZD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19028668
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with PDZD7: view
genes like me logo Genes that share phenotypes with PDZD7: view

Human Phenotype Ontology for PDZD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDZD7 Gene

MGI Knock Outs for PDZD7:

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for PDZD7 Gene

Localization for PDZD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZD7 Gene

Cell projection, cilium. Nucleus.

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 PDZD7 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDZD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002141 stereocilia ankle link IEA --
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IEA,IDA 20440071
GO:0005929 cilium IEA,IDA 20440071
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with PDZD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDZD7 Gene

Pathways & Interactions for PDZD7 Gene

SuperPathways for PDZD7 Gene

No Data Available

Interacting Proteins for PDZD7 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q9H5P4-PDZD7_HUMAN ENSP00000359234 for PDZD7 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PDZD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045184 establishment of protein localization IEA --
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA --
GO:0060088 auditory receptor cell stereocilium organization IEA --
GO:0060117 auditory receptor cell development IEA --
genes like me logo Genes that share ontologies with PDZD7: view

No data available for Pathways by source and SIGNOR curated interactions for PDZD7 Gene

Drugs & Compounds for PDZD7 Gene

No Compound Related Data Available

Transcripts for PDZD7 Gene

Unigene Clusters for PDZD7 Gene

PDZ domain containing 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDZD7 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -

Relevant External Links for PDZD7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDZD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDZD7 Gene

mRNA differential expression in normal tissues according to GTEx for PDZD7 Gene

This gene is overexpressed in Brain - Cerebellum (x5.6), Brain - Cerebellar Hemisphere (x5.2), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for PDZD7 Gene

This gene is overexpressed in Spleen (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDZD7 Gene

Protein tissue co-expression partners for PDZD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of PDZD7 Gene:


SOURCE GeneReport for Unigene cluster for PDZD7 Gene:


mRNA Expression by UniProt/SwissProt for PDZD7 Gene:

Tissue specificity: Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.

Evidence on tissue expression from TISSUES for PDZD7 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZD7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PDZD7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PDZD7 Gene

Orthologs for PDZD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZD7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDZD7 34
  • 97 (a)
(Bos Taurus)
Mammalia LOC511930 33
  • 88.07 (n)
PDZD7 34
  • 41 (a)
(Canis familiaris)
Mammalia LOC486847 33
  • 86 (n)
PDZD7 34
  • 46 (a)
(Rattus norvegicus)
Mammalia Pdzd7 33
  • 83.38 (n)
(Mus musculus)
Mammalia Pdzd7 33 16 34
  • 83.25 (n)
(Ornithorhynchus anatinus)
Mammalia PDZD7 34
  • 83 (a)
(Monodelphis domestica)
Mammalia PDZD7 34
  • 41 (a)
(Gallus gallus)
Aves PDZD7 33 34
  • 69.84 (n)
(Anolis carolinensis)
Reptilia PDZD7 34
  • 30 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489709 33
  • 58.57 (n)
(Danio rerio)
Actinopterygii pdzd7a 33 34
  • 58.45 (n)
PDZD7 (2 of 2) 34
  • 19 (a)
fruit fly
(Drosophila melanogaster)
Insecta dysc 34
  • 10 (a)
Species where no ortholog for PDZD7 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)
  • worm (Caenorhabditis elegans)

Evolution for PDZD7 Gene

Gene Tree for PDZD7 (if available)
Gene Tree for PDZD7 (if available)

Paralogs for PDZD7 Gene

Paralogs for PDZD7 Gene

(2) SIMAP similar genes for PDZD7 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PDZD7: view

Variants for PDZD7 Gene

Sequence variations from dbSNP and Humsavar for PDZD7 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs111750275 Likely benign 101,010,351(+) GCCGT(C/G/T)CCCTC downstream-variant-500B, reference, synonymous-codon
rs112571971 Likely benign 101,015,772(+) GACTC(C/T)CAGAC intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
rs113570783 Likely benign 101,010,532(+) GACCC(C/T)GGCTG downstream-variant-500B, reference, missense
rs118098246 Likely benign 101,022,356(+) TCTCC(A/G/T)CTACC nc-transcript-variant, reference, missense
rs141305163 Likely benign 101,023,989(+) CCCCC(A/G)CGCAC nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PDZD7 Gene

Variant ID Type Subtype PubMed ID
nsv831965 CNV loss 17160897
nsv7525 CNV insertion 18451855
nsv517698 CNV loss 19592680
nsv1137956 CNV deletion 24896259

Variation tolerance for PDZD7 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDZD7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZD7 Gene

Disorders for PDZD7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PDZD7 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type 2c
  • usher syndrome, type 2c, gpr98/pdzd7 digenic
usher syndrome, type 2a
  • retinal disease in usher syndrome type iia, modifier of
usher syndrome type 2
  • ush2
usher syndrome
  • deafness-retinitis pigmentosa syndrome
usher syndrome, type 2d
  • usher syndrome type 2d
- elite association - COSMIC cancer census association via MalaCards
Search PDZD7 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). {ECO:0000269 PubMed:19028668}.
  • Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269 PubMed:20440071}. Note=The gene represented in this entry acts as a disease modifier.
  • Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269 PubMed:20440071}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A PDZD7 mutation has been found in combination with a mutation in GPR98 in a patient affected by Usher syndrome, suggesting PDZD7 mutations contribute to digenic Usher syndrome. {ECO:0000269 PubMed:20440071}.

Relevant External Links for PDZD7

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PDZD7: view

No data available for Genatlas for PDZD7 Gene

Publications for PDZD7 Gene

  1. PDZD7 and hearing loss: More than just a modifier. (PMID: 26416264) Booth KT … Smith RJ (American journal of medical genetics. Part A 2015) 2 3 60
  2. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (PMID: 20440071) Ebermann I … Bolz HJ (The Journal of clinical investigation 2010) 3 4 60
  3. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. (PMID: 19028668) Schneider E … Haaf T (Human molecular genetics 2009) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 60

Products for PDZD7 Gene

Sources for PDZD7 Gene

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