Format

Send to:

Choose Destination

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

Gene ID: 79955, updated on 23-Nov-2021

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
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:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (101007679..101031145, complement)
105.20201022 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 twinkle mtDNA helicase Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene sideroflexin 3 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

Homology

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
PubMed 
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
 
acts_upstream_of_or_within establishment of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of USH2 complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 

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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    101007679..101031145 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540178.3XP_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_011540177.3XP_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
  3. XM_011540179.3XP_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_005270165.3XP_005270222.1  PDZ domain-containing protein 7 isoform X5

    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) ...
  5. XM_011540181.3XP_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_011540183.3XP_011538485.1  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) ...
  7. XM_017016667.2XP_016872156.1  PDZ domain-containing protein 7 isoform X4

    Related
    ENSP00000495283.1, ENST00000645349.1
  8. XM_017016668.2XP_016872157.1  PDZ domain-containing protein 7 isoform X8

RNA

  1. XR_945816.3 RNA Sequence

  2. XR_001747203.2 RNA Sequence

Support Center