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

    Gene ID: 79955, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:26257
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDZD7 in Genome Data Viewer
    Location:
    10q24.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101007679..101031129, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101891054..101914544, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102767436..102790886, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102755784-102756653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2712 Neighboring gene twinkle mtDNA helicase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2714 Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768034-102768715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768716-102769396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3906 Neighboring gene sideroflexin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102810093-102810594 Neighboring gene uncharacterized LOC107984262 Neighboring gene Sharpr-MPRA regulatory region 11881

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within auditory receptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in auditory receptor cell stereocilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within establishment of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear receptor cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of USH2 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in stereocilia ankle link ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of stereocilia ankle link complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of stereocilia ankle link complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in stereocilium tip IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    PDZ domain-containing protein 7
    Names
    deafness, autosomal recessive 57

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5029..28479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195263.2NP_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
      D5FJ77, Q8N321, Q9H5P4
      Related
      ENSP00000480489.1, ENST00000619208.6
      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_001351044.2NP_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_024895.5NP_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, ENST00000370215.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101007679..101031129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540178.4XP_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
    2. XM_011540177.4XP_011538479.1  PDZ domain-containing protein 7 isoform X1

      See identical proteins and their annotated locations for XP_011538479.1

      UniProtKB/Swiss-Prot
      D5FJ77, Q8N321, 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
    3. XM_047425767.1XP_047281723.1  PDZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      D5FJ77, Q8N321, Q9H5P4
    4. XM_011540179.4XP_011538481.1  PDZ domain-containing protein 7 isoform X4

      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
    5. XM_047425768.1XP_047281724.1  PDZ domain-containing protein 7 isoform X3

    6. XM_005270165.4XP_005270222.1  PDZ domain-containing protein 7 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y892
      Related
      ENSP00000496747.1, ENST00000644782.1
      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_011540181.4XP_011538483.1  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) ...
    8. XM_011540183.4XP_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) ...
    9. XM_017016667.3XP_016872156.1  PDZ domain-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2R8YFN1
      Related
      ENSP00000495283.1, ENST00000645349.1
    10. XM_017016668.3XP_016872157.1  PDZ domain-containing protein 7 isoform X9

    11. XM_047425769.1XP_047281725.1  PDZ domain-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2R8YFN1
    12. XM_047425771.1XP_047281727.1  PDZ domain-containing protein 7 isoform X10

    RNA

    1. XR_945816.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101891054..101914544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366764.1XP_054222739.1  PDZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      D5FJ77, Q8N321, Q9H5P4
    2. XM_054366765.1XP_054222740.1  PDZ domain-containing protein 7 isoform X2

    3. XM_054366763.1XP_054222738.1  PDZ domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      D5FJ77, Q8N321, Q9H5P4
    4. XM_054366766.1XP_054222741.1  PDZ domain-containing protein 7 isoform X4

    5. XM_054366769.1XP_054222744.1  PDZ domain-containing protein 7 isoform X6

      UniProtKB/TrEMBL
      A0A2R8Y892
    6. XM_054366770.1XP_054222745.1  PDZ domain-containing protein 7 isoform X7

    7. XM_054366771.1XP_054222746.1  PDZ domain-containing protein 7 isoform X8

    8. XM_054366767.1XP_054222742.1  PDZ domain-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2R8YFN1
    9. XM_054366772.1XP_054222747.1  PDZ domain-containing protein 7 isoform X9

    10. XM_054366768.1XP_054222743.1  PDZ domain-containing protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2R8YFN1
    11. XM_054366773.1XP_054222748.1  PDZ domain-containing protein 7 isoform X10

    RNA

    1. XR_008488266.1 RNA Sequence