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Aliases for PDZD7 Gene

Aliases for PDZD7 Gene

  • PDZ Domain Containing 7 2 3 5
  • PDZK7 3 4

External Ids for PDZD7 Gene

Previous HGNC Symbols for PDZD7 Gene

  • PDZK7

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 USH1C.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PDZD7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PDZD7 Gene

Chromosome:
10
Start:
101,007,683 bp from pter
End:
101,031,157 bp from pter
Size:
23,475 bases
Orientation:
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:
    Q9H5P4-PDZD7_HUMAN
    Recommended name:
    PDZ domain-containing protein 7
    Protein Accession:
    Q9H5P4
    Secondary Accessions:
    • D5FJ77
    • Q8N321

    Protein attributes for PDZD7 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PDZD7 Gene

Proteomics data for PDZD7 Gene at MOPED

Post-translational modifications for PDZD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZD7 Gene

No data available for DME Specific Peptides for PDZD7 Gene

Domains & Families for PDZD7 Gene

Protein Domains for PDZD7 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PDZD7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H5P4

UniProtKB/Swiss-Prot:

PDZD7_HUMAN :
  • Contains 2 PDZ (DHR) domains.
Domain:
  • Contains 2 PDZ (DHR) domains.
genes like me logo Genes that share domains with PDZD7: view

Function for PDZD7 Gene

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:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for PDZD7 Gene 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:1990696 USH2 complex IEA --
genes like me logo Genes that share ontologies with PDZD7: view

Pathways & Interactions for PDZD7 Gene

SuperPathways for PDZD7 Gene

No Data Available

Interacting Proteins for PDZD7 Gene

Gene Ontology (GO) - Biological Process for PDZD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound 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:

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: - -
SP2:
SP3:
SP4:

Relevant External Links for PDZD7 Gene

GeneLoc Exon Structure for
PDZD7
ECgene alternative splicing isoforms for
PDZD7

Expression for PDZD7 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for PDZD7 Gene Hs.438245

mRNA Expression by UniProt/SwissProt for PDZD7 Gene

Q9H5P4-PDZD7_HUMAN
Tissue specificity: Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.
genes like me logo Genes that share expression patterns with PDZD7: view

Protein tissue co-expression partners for PDZD7 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia LOC511930 35
  • 88.07 (n)
  • 87.94 (a)
PDZD7 36
  • 41 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC486847 35
  • 86 (n)
  • 86.22 (a)
PDZD7 36
  • 46 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdzd7 35
  • 83.25 (n)
  • 85.39 (a)
Pdzd7 16
Pdzd7 36
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdzd7 35
  • 83.38 (n)
  • 85.32 (a)
oppossum
(Monodelphis domestica)
Mammalia PDZD7 36
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDZD7 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDZD7 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDZD7 35
  • 69.84 (n)
  • 66.99 (a)
PDZD7 36
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDZD7 36
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489709 35
  • 58.57 (n)
  • 58.8 (a)
zebrafish
(Danio rerio)
Actinopterygii pdzd7a 35
  • 58.45 (n)
  • 53.78 (a)
PDZD7 (2 of 2) 36
  • 19 (a)
OneToMany
pdzd7a 36
  • 28 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dysc 36
  • 10 (a)
OneToMany
Species with no ortholog for PDZD7:
  • 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

ENSEMBL:
Gene Tree for PDZD7 (if available)
TreeFam:
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
rs3051191 -- 101,014,695(+) CACAC(-/ACACAC/ACACACAC)GCTAG intron-variant
rs3051194 -- 101,026,698(+) acaca(-/CACACACA)cacac intron-variant
rs3740496 -- 101,023,388(+) GTTGG(C/G)GTGGG intron-variant
rs1998249 -- 101,020,881(-) AGGGC(G/T)GCCTC intron-variant
rs3832692 -- 101,020,749(+) CGGGG(-/G)TGACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831965 CNV Loss 17160897
nsv517698 CNV Loss 19592680
nsv895961 CNV Loss 21882294
dgv813n71 CNV Loss 21882294
nsv895963 CNV Loss 21882294
nsv895964 CNV Loss 21882294
nsv7525 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
PDZD7
Human Gene Mutation Database (HGMD)
PDZD7

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: 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 ii
  • ush2
retinal disease
  • retinal disorders
usher syndrome
  • deafness-retinitis pigmentosa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PDZD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDZD7_HUMAN
  • 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 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. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression. {ECO:0000269 PubMed:20440071}.

Relevant External Links for PDZD7

Genetic Association Database (GAD)
PDZD7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDZD7
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 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (PMID: 20440071) Ebermann I. … Bolz H.J. (J. Clin. Invest. 2010) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. (PMID: 24618850) Yoshimura H. … Usami S. (PLoS ONE 2014) 3
  4. Constitutive GI+i coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein. (PMID: 24962568) Hu Q.X. … Sun J.P. (J. Biol. Chem. 2014) 3
  5. Whirlin and PDZ Domain Containing 7 (PDZD7) Proteins are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2. (PMID: 25406310) Chen Q. … Yang J. (J. Biol. Chem. 2014) 3

Products for PDZD7 Gene

Sources for PDZD7 Gene

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