About   Help   FAQ
Pdzd7 Gene Detail
Summary
  • Symbol
    Pdzd7
  • Name
    PDZ domain containing 7
  • Synonyms
    EG435601, Pdzk7
  • Feature Type
    protein coding gene
  • IDs
    MGI:3608325
    NCBI Gene: 100503041
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:45015345-45034156 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 38.23 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    483 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3608325
 protein coding gene Chr19:45015345-45048273 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025182
 protein coding gene Chr19:44571924-44591601 (-)
A/J MGP_AJ_G0025159
 protein coding gene Chr19:42425422-42445093 (-)
AKR/J MGP_AKRJ_G0025127
 protein coding gene Chr19:43785807-43807338 (-)
BALB/cJ MGP_BALBcJ_G0025153
 protein coding gene Chr19:42475448-42496997 (-)
C3H/HeJ MGP_C3HHeJ_G0024913
 protein coding gene Chr19:43939012-43968553 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025596
 protein coding gene Chr19:45659731-45680905 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023010
 protein coding gene Chr19:41692312-41712525 (-)
CAST/EiJ MGP_CASTEiJ_G0024378
 protein coding gene Chr19:43689447-43712192 (-)
CBA/J MGP_CBAJ_G0024893
 protein coding gene Chr19:47979368-47999044 (-)
DBA/2J MGP_DBA2J_G0025025
 protein coding gene Chr19:42244489-42264913 (-)
FVB/NJ MGP_FVBNJ_G0024986
 protein coding gene Chr19:42010972-42031501 (-)
LP/J MGP_LPJ_G0025111
 protein coding gene Chr19:44511456-44534182 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025017
 protein coding gene Chr19:47362975-47384999 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025654
 protein coding gene Chr19:43862571-43886628 (-)
PWK/PhJ MGP_PWKPhJ_G0024127
 protein coding gene Chr19:42151069-42172041 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023931
 protein coding gene Chr19:42557765-42576947 (-)
WSB/EiJ MGP_WSBEiJ_G0024448
 protein coding gene Chr19:44007895-44028963 (-)



Homology
more
  • Human Ortholog
    PDZD7, PDZ domain containing 7
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDZD7, PDZ domain containing 7
  • Synonyms
    DFNB57, PDZK7
  • Links
    NCBI Gene ID: 79955
    neXtProt AC: NX_Q9H5P4
    UniProt: Q9H5P4

  • Chr Location
    10q24.31; chr10:101007679-101032295 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human PDZD7 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    2
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074818 Ensembl Gene Model | MGI Sequence Detail 18812 C57BL/6J ±  kb
    transcript ENSMUST00000169459 Ensembl | MGI Sequence Detail 3265 Not Applicable  
    polypeptide ENSMUSP00000133273 Ensembl | MGI Sequence Detail 1021 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      Genomic 2
      cDNA 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:3645766
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 1
      Gene Ontology 12
      Phenotypes 7
    • Earliest
      J:144740 Schneider E, et al., Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 2009 Feb 15;18(4):655-66
    • Latest
      J:292498 Du H, et al., Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice. FASEB J. 2020 Jan;34(1):1136-1149
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory