Pdzd7 PDZ domain containing 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdzd7provided by MGI
Official Full Name: PDZ domain containing 7provided by MGI
Primary source: MGI:MGI:3608325
See related: Ensembl:ENSMUSG00000074818 AllianceGenome:MGI:3608325
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pdzk7; EG435601; 9130207N01
Summary: Enables identical protein binding activity. Acts upstream of or within auditory receptor cell stereocilium organization; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in stereocilia ankle link and stereocilium. Part of USH2 complex and stereocilia ankle link complex. Human ortholog(s) of this gene implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57. Orthologous to human PDZD7 (PDZ domain containing 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 18.9), colon adult (RPKM 4.4) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.23 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (45015346..45048273, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (45026907..45058633, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PDZD7 long isoform has a role in the ankle-link complex and causes hearing loss in mice
Title: Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.
Several novel PDZD7-binding proteins were identified in a Cadm1-knockout model of deafness.
Title: Identification of Binding Partners of Deafness-Related Protein PDZD7.
MYO7A and PDZD7 interact in tissue-culture cells, and co-localize to the ankle-link region of stereocilia in wild-type but not Myo7a mutant mice.
Title: PDZD7-MYO7A complex identified in enriched stereocilia membranes.
it is clear that PDZD7 plays an essential role in organizing the USH2 complex at ankle links in developing cochlear hair cells.
Title: Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Targeted (1)

General gene information

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Markers

C79039 (e-PCR)
- UniSTS:209471

NoName (e-PCR)
- UniSTS:237956

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within auditory receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of USH2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilia ankle link	IDA Inferred from Direct Assay more info	PubMed
part_of stereocilia ankle link complex	IBA Inferred from Biological aspect of Ancestor more info
part_of stereocilia ankle link complex	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium tip	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: PDZ domain-containing protein 7

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001195265.1 → NP_001182194.1 PDZ domain-containing protein 7

See identical proteins and their annotated locations for NP_001182194.1

Status: VALIDATED

Source sequence(s)

AC132957, BC096488

Consensus CDS

CCDS57145.1

UniProtKB/Swiss-Prot

E9Q9U9, E9Q9W7, X4YT42, X4YT46, X4YZM3, X4ZGA7

Related

ENSMUSP00000133273.3, ENSMUST00000169459.4

Conserved Domains (2) summary

cd00992
Location:84 → 164

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:554 → 631

HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

45015346..45048273 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526537.5 → XP_006526600.1 PDZ domain-containing protein 7 isoform X1

See identical proteins and their annotated locations for XP_006526600.1

UniProtKB/Swiss-Prot

E9Q9U9, E9Q9W7, X4YT42, X4YT46, X4YZM3, X4ZGA7

Conserved Domains (2) summary

cd00992
Location:84 → 164

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:554 → 631

HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
XM_006526538.3 → XP_006526601.1 PDZ domain-containing protein 7 isoform X2

Conserved Domains (2) summary

cd00992
Location:84 → 164

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:554 → 631

HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
XM_006526536.3 → XP_006526599.1 PDZ domain-containing protein 7 isoform X1

See identical proteins and their annotated locations for XP_006526599.1

UniProtKB/Swiss-Prot

E9Q9U9, E9Q9W7, X4YT42, X4YT46, X4YZM3, X4ZGA7

Conserved Domains (2) summary

cd00992
Location:84 → 164

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:554 → 631

HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
XM_017318034.3 → XP_017173523.1 PDZ domain-containing protein 7 isoform X5

Conserved Domains (1) summary

cd00992
Location:84 → 164

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) ...
XM_006526542.3 → XP_006526605.1 PDZ domain-containing protein 7 isoform X3

Related

ENSMUSP00000157966.2, ENSMUST00000237227.2

Conserved Domains (1) summary

cd00992
Location:84 → 164

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) ...
XM_017318033.3 → XP_017173522.1 PDZ domain-containing protein 7 isoform X4

Related

ENSMUSP00000157695.2, ENSMUST00000237833.2

Conserved Domains (1) summary

cd00992
Location:84 → 164

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) ...