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PDZ domain containing 7

Summary

Gene Symbol

PDZD7

Organism

Homo sapiens (human)

External Links

NCBI Gene

79955

PubChem

79955

Alliance of Genome Resources

HGNC:26257

Annotation

Keyword

3D-structure
Alternative splicing
Cell projection
Chromosomal rearrangement
Cilium
Disease variant
Non-syndromic deafness
Nucleus
Proteomics identification
Reference proteome
Repeat
Retinitis pigmentosa
Usher syndrome

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A2R8Y892
Q9H5P4
A0A2R8YFN1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 7** of 7 in total

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GO Term	Evidence Code	PMID
auditory receptor cell stereocilium organization	IBA ISS
auditory receptor cell development	ISS

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

cell development [inference]

neuron development [inference]

inner ear receptor cell development [inference]

auditory receptor cell development

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

inner ear receptor cell stereocilium organization [inference]

auditory receptor cell stereocilium organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

detection of mechanical stimulus involved in sensory perception of sound

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

neuron development [inference]

inner ear receptor cell development [inference]

auditory receptor cell development

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation [inference]

mechanoreceptor differentiation [inference]

inner ear receptor cell differentiation

cell development [inference]

neuron development [inference]

inner ear receptor cell development [inference]

auditory receptor cell development

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

establishment of localization [inference]

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization

Displaying entries **6 - 10** of 10 in total

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GO Term	Evidence Code	PMID
stereocilium tip	IBA
USH2 complex	ISS
extracellular space	HDA	22664934
nucleus	IDA	20440071
cilium	IBA IDA	20440071

GO Hierarchy

cellular component

protein-containing complex [inference]

cellular anatomical entity [inference]

stereocilia coupling link [inference]

stereocilia ankle link

membrane [inference]

plasma membrane

stereocilium tip

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

neuron projection [inference]

stereocilium

actin-based cell projection [inference]

stereocilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	19028668 20440071
identical protein binding	IEA

GO Hierarchy

molecular function

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Uncharacterized protein

Functional Category

E: Amino acid transport and metabolism
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
auditory receptor cell stereocilium organization
sensory perception of sound

Displaying **all 2** entries
InterPro
PDZ domain
PDZ superfamily

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0110838	Usher syndrome type 2A	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C	Alliance of Genome Resources
DOID:0111635	autosomal recessive nonsyndromic deafness 57	Alliance of Genome Resources

Ortholog

Displaying entry **61 - 61** of 61 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Pongo pygmaeus	129006449	9600_0:00289e

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024