ENSMUSG00000074818


Mus musculus

Features
Gene ID: ENSMUSG00000074818
  
Biological name :Pdzd7
  
Synonyms : Pdzd7 / PDZ domain containing 7
  
Possible biological names infered from orthology : Q9H5P4
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C3
Gene start: 45026906
Gene end: 45046614
  
Corresponding Affymetrix probe sets: 10468030 (MoGene1.0st)   10468037 (MoGene1.0st)   
  
Cross references: Ensembl peptide - ENSMUSP00000119002
Ensembl peptide - ENSMUSP00000133273
NCBI entrez gene - 100503041     See in Manteia.
MGI - MGI:3608325
RefSeq - XM_006526539
RefSeq - NM_001195265
RefSeq - XM_006526537
RefSeq - XM_006526538
RefSeq - XM_006526536
RefSeq Peptide - NP_001182194
swissprot - E9Q9W7
Ensembl - ENSMUSG00000074818
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdzd7aENSDARG00000076974Danio rerio
 PDZD7ENSGALG00000020726Gallus gallus
 PDZD7ENSG00000186862Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Whrn / Q80VW5 / whirlin / Q9P202*ENSMUSG0000003913720
Ush1c / USH1 protein network component harmonin / Q9Y6N9*ENSMUSG0000003083815
Pdzd11 / Q9CZG9 / PDZ domain-containing protein 11 / Q5EBL8* / PDZ domain containing 11*ENSMUSG000000156685


Protein motifs (from Interpro)
Interpro ID Name
 IPR001478  PDZ domain
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0045184 establishment of protein localization IMP
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IMP
 biological_processGO:0060088 auditory receptor cell stereocilium organization IMP
 biological_processGO:0060117 auditory receptor cell development IMP
 cellular_componentGO:0002141 stereocilia ankle link IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005929 cilium ISO
 cellular_componentGO:1990696 USH2 complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

Allelic Composition: Pdzd7mpc265H/Pdzd7mpc265H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004414 decreased cochlear microphonics "reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004434 abnormal cochlear outer hair cell physiology "anomalies in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004529 decreased outer hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0011062 abnormal outer hair cell kinocilium morphology "any structural anomaly of the nonmotile primary cilium that is found at the apical surface of outer hair cells" [GO:0060091]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Unc93b1tm1(KOMP)Vlcg/Unc93b1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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