ENSMUSG00000026317


Mus musculus

Features
Gene ID: ENSMUSG00000026317
  
Biological name :Cln8
  
Synonyms : Cln8 / Protein CLN8 / Q9QUK3
  
Possible biological names infered from orthology : CLN8, transmembrane ER and ERGIC protein / KBTBD11-OT1 / KBTBD11 overlapping transcript 1 / Q9UBY8
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: A1.1
Gene start: 14881335
Gene end: 14901720
  
Corresponding Affymetrix probe sets: 10570472 (MoGene1.0st)   1448455_at (Mouse Genome 430 2.0 Array)   1448456_at (Mouse Genome 430 2.0 Array)   1455745_at (Mouse Genome 430 2.0 Array)   1459992_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000027554
Ensembl peptide - ENSMUSP00000122765
Ensembl peptide - ENSMUSP00000121618
Ensembl peptide - ENSMUSP00000119031
Ensembl peptide - ENSMUSP00000116550
NCBI entrez gene - 26889     See in Manteia.
MGI - MGI:1349447
RefSeq - XM_006508807
RefSeq - NM_012000
RefSeq - XM_006508806
RefSeq Peptide - NP_036130
swissprot - D3Z3T9
swissprot - D3Z332
swissprot - Q9QUK3
swissprot - D3Z2H1
swissprot - A0A1C7ZMZ0
swissprot - Q542J5
Ensembl - ENSMUSG00000026317
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cln8ENSDARG00000075525Danio rerio
 CLN8ENSGALG00000039606Gallus gallus
 CLN8ENSG00000182372Homo sapiens
 KBTBD11-OT1ENSG00000283239Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006634  TRAM/LAG1/CLN8 homology domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001306 age-dependent response to oxidative stress IMP
 biological_processGO:0006644 phospholipid metabolic process ISS
 biological_processGO:0006672 ceramide metabolic process ISS
 biological_processGO:0007006 mitochondrial membrane organization IMP
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007399 nervous system development ISS
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0008203 cholesterol metabolic process ISO
 biological_processGO:0008306 associative learning IMP
 biological_processGO:0008344 adult locomotory behavior IMP
 biological_processGO:0008361 regulation of cell size IMP
 biological_processGO:0021522 spinal cord motor neuron differentiation IMP
 biological_processGO:0021523 somatic motor neuron differentiation IMP
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0044257 cellular protein catabolic process IMP
 biological_processGO:0044265 cellular macromolecule catabolic process IMP
 biological_processGO:0044267 cellular protein metabolic process IMP
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0050881 musculoskeletal movement IMP
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051935 glutamate reuptake IMP
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0060052 neurofilament cytoskeleton organization IMP
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0000754 partial paralysis "partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

Allelic Composition: Cln8mnd/Cln8+
Genetic Background: involves: B6.KB2 * C57BL/6Fla

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: B6.KB2 * C3H/HeJ

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: AK.B6(Cg)-Cln8mnd

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001056 abnormal cranial nerve morphology "any anomaly, deformity, or malformation of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]
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Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001074 abnormal vagus nerve morphology "malformed or misprojection of autonomic, sensory and motor axons of the tenth cranial nerve to the pharynx, larynx, trachea, lungs, heart and GI tract" [Principles of Neural Science:ISBN 0-8385-8034-3, J:33038]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001076 abnormal hypoglossal nerve morphology "malformation or misprojection of motor axons to the tongue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:45302]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 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]
Show

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0002001 blindness "loss of the sense of sight" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: B6.KB2 * C3H/HeJ

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: AK.B6(Cg)-Cln8mnd

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: B6.KB2 * C3H/HeJ

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 MP:0005112 abnormal anterior horn morphology "anomalous structure of the ventral gray column of the spinal cord" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Adrb1tm1Bkk/Adrb1tm1Bkk,Adrb2tm1Bkk/Adrb2tm1Bkk,Adrb3tm1Lowl/Adrb3tm1Lowl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2 * FVB/N

 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]
Show

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

 MP:0008455 abnormal retinal rod cell inner segment morphology "any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 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: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

 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: Cln8mnd/Cln8mnd
Genetic Background: involves: AKR/J * B6.KB2

  


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






 

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