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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 **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
stereocilia ankle link	ISS
plasma membrane	IBA
stereocilia ankle link complex	IBA ISS
nucleoplasm	IDA
stereocilium	ISS

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 entries **21 - 30** of 61 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Ictidomys tridecemlineatus	101969609			ICTTR16825
Chinchilla lanigera	102004167			CHILA18922
Macaca fascicularis	102130311			MACFA43236
Capra hircus	102177586			CAPHI17836
Haplochromis burtoni	102314616			HAPBU01356
Astyanax mexicanus	103039359			ASTMX19504
Callorhinchus milii	103185249			CALMI31736
Cynoglossus semilaevis	103381558			CYNSE27327
Poecilia reticulata	103481839			POERE14773
Serinus canaria	103814145			SERCA07573

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Last updated: December 9, 2024