• Gene id: 54982

Gene Summary

• Gene Symbol: CLN6   Gene   UCSC   Ensembl
• Aliases: CLN4A, HsT18960, nclf
• Gene name: CLN6 transmembrane ER protein
• Alternate names: ceroid-lipofuscinosis neuronal protein 6, ceroid-lipofuscinosis neuronal 6 late infantile, ceroid-lipofuscinosis, neuronal 6, late infantile,
• Gene location: 15q23 (68229727: 68206991)     Exons: 7     NC_000015.10
• Gene summary(Entrez): This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely
• OMIM: 602007

Protein Summary

• Protein general information: Q9NWW5  
  • Name: Ceroid lipofuscinosis neuronal protein 6 (Protein CLN6)
  • Length: 311  
  • Mass: 35919
• Sequence:

  MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDFGRPIAMLVFPLEWFP
  LNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIFIMGASIHLVGDSVNHRLLFSGYQHHLSVRE
  NPIIKNLKPETLIDSFELLYYYDEYLGHCMWYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLV
  TEGQIFILFIFTFFAMLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW
  AFYTLHVSSRH

• Structural information:
  • Interpro: IPR029255  
  • STRING: ENSP00000249806
• Other Databases: GeneCards:  CLN6  Malacards:  CLN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0007040	lysosome organization	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0035727	lysophosphatidic acid binding	IDA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0120146	sulfatide binding	IDA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031987	locomotion involved in locomotory behavior	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0044265	cellular macromolecule catabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0030203	glycosaminoglycan metabolic process	IMP	biological process
GO:0030163	protein catabolic process	NAS	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0045862	positive regulation of proteolysis	IMP	biological process
GO:0001573	ganglioside metabolic process	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007042	lysosomal lumen acidification	IMP	biological process

Diseases

Associated diseases	References
Neuronal ceroid lipofuscinosis	KEGG:H00149
Kufs disease	KEGG:H02276
Neuronal ceroid lipofuscinosis	KEGG:H00149
Kufs disease	KEGG:H02276
Neuronal ceroid lipofuscinosis	PMID:11791207
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R