ENSMUSG00000044375


Mus musculus

Features
Gene ID: ENSMUSG00000044375
  
Biological name :BC027072
  
Synonyms : BC027072 / Q6PAC4
  
Possible biological names infered from orthology : A6NGG8 / C2orf71 / chromosome 2 open reading frame 71
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: E1.3
Gene start: 71743557
Gene end: 71752885
  
Corresponding Affymetrix probe sets: 10452729 (MoGene1.0st)   1425306_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000051871
NCBI entrez gene - 225004     See in Manteia.
MGI - MGI:2385061
RefSeq - NM_146082
RefSeq - XM_006524187
RefSeq Peptide - NP_666194
swissprot - Q6PAC4
Ensembl - ENSMUSG00000044375
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01056321.1ENSDARG00000102288Danio rerio
 si:ch1073-155h21.2ENSDARG00000095802Danio rerio
 C2orf71ENSGALG00000009007Gallus gallus
 A6NGG8ENSG00000179270Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR029352  Retinal protein C2orf71


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0035845 photoreceptor cell outer segment organization IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception ISO
 biological_processGO:1903546 protein localization to photoreceptor outer segment IMP
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0005929 cilium ISO
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0009392 retinal gliosis "increased proliferation of neuroglia in a damaged area of the retina that may lead to the formation of scar tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0014059 abnormal photoreceptor connecting cilium morphology "any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments" [GO:0032391, PMID:20212494]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

 MP:0020448 increased microglial cell activation "increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774]
Show

Allelic Composition: Cd36tm2.1Mfe/Cd36tm2.1Mfe,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: B6.Cg-Cd36tm2.1Mfe A1cfTg(Myh6-cre/Esr1*)1Jmk

  


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






 

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