ENSMUSG00000030720


Mus musculus

Features
Gene ID: ENSMUSG00000030720
  
Biological name :Cln3
  
Synonyms : Battenin / Cln3 / Q61124
  
Possible biological names infered from orthology : AC138894.1 / CLN3, battenin / Q13286
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: F3
Gene start: 126571207
Gene end: 126585817
  
Corresponding Affymetrix probe sets: 10567964 (MoGene1.0st)   1417551_at (Mouse Genome 430 2.0 Array)   1457789_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114555
Ensembl peptide - ENSMUSP00000138688
Ensembl peptide - ENSMUSP00000118054
Ensembl peptide - ENSMUSP00000117561
Ensembl peptide - ENSMUSP00000116160
Ensembl peptide - ENSMUSP00000114901
Ensembl peptide - ENSMUSP00000032962
Ensembl peptide - ENSMUSP00000081636
Ensembl peptide - ENSMUSP00000095644
Ensembl peptide - ENSMUSP00000111973
NCBI entrez gene - 12752     See in Manteia.
MGI - MGI:107537
RefSeq - XM_006507288
RefSeq - XM_006507293
RefSeq - XM_006507292
RefSeq - XM_006507290
RefSeq - NM_001146311
RefSeq - NM_009907
RefSeq - XM_006507289
RefSeq - XM_017321963
RefSeq Peptide - NP_034037
RefSeq Peptide - NP_001139783
swissprot - Q6PAH4
swissprot - S4R2L1
swissprot - Q61124
swissprot - D3Z6L5
swissprot - D3YUU4
swissprot - D3YVA8
swissprot - D3YZN0
swissprot - D3Z448
Ensembl - ENSMUSG00000030720
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cln3ENSDARG00000037865Danio rerio
 AC138894.1ENSG00000261832Homo sapiens
 CLN3ENSG00000188603Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR003492  Batten"s disease protein Cln3
 IPR018460  Batten"s disease protein Cln3, subgroup
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IMP
 biological_processGO:0001575 globoside metabolic process ISO
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0006520 cellular amino acid metabolic process IMP
 biological_processGO:0006672 ceramide metabolic process ISS
 biological_processGO:0006678 glucosylceramide metabolic process ISO
 biological_processGO:0006681 galactosylceramide metabolic process ISO
 biological_processGO:0006684 sphingomyelin metabolic process ISS
 biological_processGO:0006865 amino acid transport IMP
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0006898 receptor-mediated endocytosis ISS
 biological_processGO:0007034 vacuolar transport IBA
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007042 lysosomal lumen acidification IBA
 biological_processGO:0008306 associative learning IMP
 biological_processGO:0010468 regulation of gene expression ISO
 biological_processGO:0015809 arginine transport IBA
 biological_processGO:0016236 macroautophagy IMP
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0016485 protein processing IMP
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IMP
 biological_processGO:0035752 lysosomal lumen pH elevation ISO
 biological_processGO:0042133 neurotransmitter metabolic process IMP
 biological_processGO:0042987 amyloid precursor protein catabolic process ISS
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0043086 negative regulation of catalytic activity IMP
 biological_processGO:0043524 negative regulation of neuron apoptotic process IDA
 biological_processGO:0045861 negative regulation of proteolysis IMP
 biological_processGO:0047496 vesicle transport along microtubule ISS
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IDA
 biological_processGO:0051489 regulation of filopodium assembly IMP
 biological_processGO:0061024 membrane organization IMP
 biological_processGO:0072657 protein localization to membrane IMP
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:0097352 autophagosome maturation IMP
 cellular_componentGO:0000139 Golgi membrane ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005765 lysosomal membrane ISO
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005776 autophagosome IDA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005795 Golgi stack ISO
 cellular_componentGO:0005802 trans-Golgi network ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005901 caveola ISO
 cellular_componentGO:0008021 synaptic vesicle ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0045121 membrane raft ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0048306 calcium-dependent protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Axin1Fu/Axin1Fu
Genetic Background: Not Specified

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

Allelic Composition: Cln3tm1Mkat/Cln3tm1Mkat
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sall4tm1Bili/Sall4+
Genetic Background: Not Specified

 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: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0001426 polydipsia "excessive thirst that is relatively prolonged" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 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: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 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: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il2tm1Hor/Il2tm1Hor,Rag2tm1Fwa/Rag2+
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Axin1Fu/Axin1Fu
Genetic Background: Not Specified

 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: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0002376 abnormal dendritic cell physiology "failure or atypical function of the immunocompetent cells of the lymphoid and hemopoietic systems and skin, which function to process antigens and present them to T cells, thus stimulating cellular immunity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:85808]
Show

Allelic Composition: Panx3tm1d(KOMP)Wtsi/Panx3tm1d(KOMP)Wtsi
Genetic Background: involves: BALB/cJ * C3H * C57BL/6 * C57BL/6N

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Panx3tm1d(KOMP)Wtsi/Panx3tm1d(KOMP)Wtsi
Genetic Background: involves: BALB/cJ * C3H * C57BL/6 * C57BL/6N

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0002988 decreased urine osmolarity "reduction in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0003566 abnormal cell adhesion "altered ability of a cell to adhere to another cell or to a non-cellular component of the environment" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Panx3tm1d(KOMP)Wtsi/Panx3tm1d(KOMP)Wtsi
Genetic Background: involves: BALB/cJ * C3H * C57BL/6 * C57BL/6N

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sall4tm1Bili/Sall4+
Genetic Background: Not Specified

 MP:0004275 abnormal postnatal subventricular zone morphology "any structural anomaly of the mitotically active layer of cells surrounding the brain ventricles in the adult that consists of migrating neuroblasts, astrocytes and transitory amplifying progenitor cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
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Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

Allelic Composition: Cln3tm1Mkat/Cln3tm1Mkat
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0005241 abnormal retinal ganglion layer morphology "anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Sall4tm1Bili/Sall4+
Genetic Background: Not Specified

 MP:0005277 abnormal brainstem morphology "anomalous structure of the midbrain, pons, or medulla" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82670]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

 MP:0005618 decreased potassium excretion "less than the normal amount of this alkaline metallic element, the most abundant intracellular ion, voided by the kidneys" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0005627 increased circulating potassium level "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
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Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0006007 abnormal basal ganglion morphology "malformation or absence of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Chek1tm1Sje/Chek1tm1Sje
Genetic Background: Not Specified

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0008056 abnormal retinal ganglion cell morphology "any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0008195 abnormal antigen presenting cell morphology "any structural anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response" [CL:0000145, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Panx3tm1d(KOMP)Wtsi/Panx3tm1d(KOMP)Wtsi
Genetic Background: involves: BALB/cJ * C3H * C57BL/6 * C57BL/6N

 MP:0008997 increased blood osmolality "increase in the concentration of ions in the blood compared to the normal state" [MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Cln3tm1Blda/Cln3tm1Blda
Genetic Background: B6.129-Cln3tm1Blda

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Spi1tm1Kast/Spi1+
Genetic Background: B6.129S2-Spi1tm1Kast

 MP:0011079 decreased macrophage cytokine production "reduced production of macrophage-derived cytokine(s) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Panx3tm1d(KOMP)Wtsi/Panx3tm1d(KOMP)Wtsi
Genetic Background: involves: BALB/cJ * C3H * C57BL/6 * C57BL/6N

  


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






 

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