Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2055
Gene name Gene Name - the full gene name approved by the HGNC.
CLN8 transmembrane ER and ERGIC protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLN8
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf61, EPMR, TLCD6
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940569 G>C Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs34238807 G>-,GG Pathogenic-likely-pathogenic Coding sequence variant, frameshift variant
rs104894060 C>T Pathogenic, likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs104894064 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs137852883 G>A,C,T Uncertain-significance, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048849 hsa-miR-93-5p CLASH 23622248
MIRT041713 hsa-miR-484 CLASH 23622248
MIRT611215 hsa-miR-8485 HITS-CLIP 22927820
MIRT619952 hsa-miR-654-3p HITS-CLIP 22927820
MIRT611214 hsa-miR-4778-5p HITS-CLIP 22927820
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17237713
GO:0005739 Component Mitochondrion IEA
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 10861296, 19941651
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607837 2079 ENSG00000182372
Protein
UniProt ID Q9UBY8
Protein name Protein CLN8
Protein function Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03798 TRAM_LAG1_CLN8 64 253 TLC domain Domain
Sequence
Sequence length 286
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis rs1554449028, rs386834123, rs1554449136, rs386834135, rs1057516582, rs759830733, rs386834124, rs34238807, rs750162094, rs386834138, rs756267448, rs1554449124, rs386834125, rs386834130, rs386834139
View all (23 more)
N/A
Neuronal Ceroid Lipofuscinosis Neuronal ceroid lipofuscinosis 8 northern epilepsy variant rs104894064 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Mental retardation intellectual disability N/A N/A ClinVar
Myopathy Central core myopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 36011304
Autism Spectrum Disorder Associate 25806950
Cerebellar Diseases Associate 34201538
Ceroid lipofuscinosis neuronal 8 Associate 16086686, 36011304
Cognition Disorders Associate 36011304
Cognitive Dysfunction Associate 36011304
Developmental Disabilities Associate 28901431, 34201538
Epilepsy Associate 29422019, 34201538, 36011304
Gaucher Disease Associate 22388998
Learning Disabilities Associate 36011304