• Gene id: 2055

Gene Summary

• Gene Symbol: CLN8   Gene   UCSC   Ensembl
• Aliases: C8orf61, EPMR, TLCD6
• Gene name: CLN8 transmembrane ER and ERGIC protein
• Alternate names: protein CLN8, ceroid-lipofuscinosis, neuronal 8,
• Gene location: 8p23.3 (1755777: 1786569)     Exons: 7     NC_000008.11
• Gene summary(Entrez): This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle betwee
• OMIM: 607837

Protein Summary

• Protein general information: Q9UBY8  
  • Name: Protein CLN8
  • Length: 286  
  • Mass: 32787
• Sequence:

  MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGV
  QSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCL
  VNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSS
  LYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP

• Structural information:
  • Protein Domains: (62..26-)
    (/note="TLC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00205"-)
  • Interpro: IPR006634  
  • Prosite: PS50922
  • STRING: ENSP00000328182
• Other Databases: GeneCards:  CLN8  Malacards:  CLN8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0097001	ceramide binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0045861	negative regulation of proteolysis	NAS	biological process
GO:0008203	cholesterol metabolic process	IMP	biological process
GO:0046513	ceramide biosynthetic process	NAS	biological process
GO:0008610	lipid biosynthetic process	NAS	biological process
GO:0006644	phospholipid metabolic process	IMP	biological process
GO:0030163	protein catabolic process	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007399	nervous system development	IMP	biological process
GO:0006869	lipid transport	NAS	biological process
GO:0006672	ceramide metabolic process	IMP	biological process

Diseases

Associated diseases	References
Neuronal ceroid lipofuscinosis	KEGG:H00149
Neuronal ceroid lipofuscinosis	KEGG:H00149
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)