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Cln5
Gene Detail
Symbol

Name
ID
Cln5
ceroid-lipofuscinosis, neuronal 5
MGI:2442253
Synonyms
A730075N08Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 14
51.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:103070216-103077579 bp, + strand
From Ensembl annotation of GRCm38

  7364 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4738  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Gene Tree: Cln5

Human
homologs
Human Homolog CLN5, ceroid-lipofuscinosis, neuronal 5
NCBI Gene ID 1203
neXtProt AC  NX_O75503
Human Synonyms  NCL
Human Chr (Location)  13q21.1-q32; chr13:76991924-77002517 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human CLN5
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants showed loss of vision and accumulation of autofluorescent storage material in the central nervous system. Loss of a subset of GABAergic interneurons was seen in several brain areas.
 
Human Diseases Modeled Using Mouse Cln5 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Cln5 interacts with 133 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process glycosylation, lysosomal lumen acidification, ...
Component endoplasmic reticulum, extracellular vesicular exosome, ...
Function mannose binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (58)    Tissues (46)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 38
Northern blot 11
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000022125 (Evidence)
Entrez Gene211286 (Evidence)
DFCITC1597813, TC1739989, TC1705813, TC1607867
DoTSDT.490388, DT.110761494, DT.94273278
Consensus CDS ProjectCCDS27314.1
International Mouse Knockout Project StatusCln5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022125 Ensembl Gene Model | MGI Sequence Detail 7364 C57BL/6J ±  kb
transcript ENSMUST00000022721 Ensembl | MGI Sequence Detail 2396 Not Applicable 
polypeptide ENSMUSP00000022721 Ensembl | MGI Sequence Detail 341 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(3) UniProt(3)
Polymorphisms
SNPs within 2kb(21 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026138 Ceroid-lipofuscinosis neuronal protein 5
Protein Ontology PR:000005592 ceroid-lipofuscinosis neuronal protein 5
References
(Earliest) J:78120 Peterson KA, et al., Functional and comparative genomic analysis of the piebald deletion region of mouse chromosome 14. Genomics. 2002 Aug;80(2):172-84
(Latest) J:194707 Blom T, et al., Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice. Dis Model Mech. 2013 Mar;6(2):342-57
All references(33)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory