Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    PDZD7 PDZ domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 79955, updated on 17-Feb-2018
    Official Symbol
    PDZD7provided by HGNC
    Official Full Name
    PDZ domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:26257
    See related
    Ensembl:ENSG00000186862 MIM:612971; Vega:OTTHUMG00000018916
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDZK7; DFNB57
    Summary
    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]
    Expression
    Broad expression in small intestine (RPKM 3.0), duodenum (RPKM 1.7) and 20 other tissues See more
    Orthologs
    Location:
    10q24.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (101007683..101031157, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102767440..102790914, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene twinkle mtDNA helicase Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene sideroflexin 3 Neighboring gene uncharacterized LOC107984262

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    USH2 complex IEA
    Inferred from Electronic Annotation
    more info
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space HDA PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stereocilia ankle link IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    PDZ domain-containing protein 7
    Names
    deafness, autosomal recessive 57

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028030.1 RefSeqGene

      Range
      5001..28475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195263.1NP_001182192.1  PDZ domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001182192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK026862, AL133215, DA197280, FJ617449
      Consensus CDS
      CCDS73182.1
      UniProtKB/Swiss-Prot
      Q9H5P4
      Related
      ENSP00000480489.1, ENST00000619208.4
      Conserved Domains (2) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07358
      Location:554630
      HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
    2. NM_001351044.1NP_001337973.1  PDZ domain-containing protein 7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, lacks multiple exons in the 3' coding region, and has a distinct 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK026862, AL133215, AW058493, DA197280, FJ617449
      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    3. NM_024895.4NP_079171.1  PDZ domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_079171.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1 and is also known as PDZD7-A.
      Source sequence(s)
      AK026862, AL133215, DA197280
      Consensus CDS
      CCDS31269.1
      UniProtKB/Swiss-Prot
      Q9H5P4
      Related
      ENSP00000359234.3, OTTHUMP00000020294, ENST00000370215.7, OTTHUMT00000049883
      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      101007683..101031157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540177.2XP_011538479.1  PDZ domain-containing protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011538479.1

      UniProtKB/Swiss-Prot
      Q9H5P4
      Conserved Domains (2) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07358
      Location:554630
      HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
    2. XM_011540178.2XP_011538480.1  PDZ domain-containing protein 7 isoform X2

      Conserved Domains (2) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07358
      Location:553629
      HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
    3. XM_011540179.2XP_011538481.1  PDZ domain-containing protein 7 isoform X3

      Conserved Domains (2) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd07358
      Location:554630
      HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
    4. XM_005270165.2XP_005270222.1  PDZ domain-containing protein 7 isoform X5

      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    5. XM_011540181.2XP_011538483.1  PDZ domain-containing protein 7 isoform X6

      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    6. XM_011540183.2XP_011538485.1  PDZ domain-containing protein 7 isoform X8

      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    7. XM_017016667.1XP_016872156.1  PDZ domain-containing protein 7 isoform X4

    8. XM_011540182.2XP_011538484.1  PDZ domain-containing protein 7 isoform X7

      Conserved Domains (1) summary
      cd00992
      Location:84164
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    9. XM_017016668.1XP_016872157.1  PDZ domain-containing protein 7 isoform X9

    RNA

    1. XR_945816.2 RNA Sequence

    2. XR_001747203.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      103051644..103075147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center