Gene Gene information from NCBI Gene database.
Entrez ID 2055
Gene name CLN8 transmembrane ER and ERGIC protein
Gene symbol CLN8
Synonyms (NCBI Gene)
C8orf61EPMRTLCD6
Chromosome 8
Chromosome location 8p23.3
Summary 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.
54
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.
1710
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607837 2079 ENSG00000182372
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CLN8-related disorder Likely pathogenic; Pathogenic rs104894060 RCV002291264
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis Pathogenic; Likely pathogenic rs2130990747, rs1454175058, rs2129015230, rs192196274, rs756267448, rs2130990601, rs1801309834, rs2129015276, rs104894064, rs28940569, rs104894060, rs746645358, rs762079123, rs780551031, rs386834138
View all (31 more)
RCV001381074
RCV001917477
RCV001920978
RCV001994795
RCV001999996
View all (46 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis 8 Pathogenic; Likely pathogenic rs104894064, rs28940569, rs104894060, rs137852883, rs2486488212, rs746645358, rs144495588, rs758707781, rs2486442031, rs2486488805, rs1057516867, rs1057516582, rs756267448, rs143730802, rs1554451504
View all (25 more)
RCV000409951
RCV000002937
RCV000002938
RCV000002940
RCV002488681
View all (35 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Pathogenic; Likely pathogenic rs104894064, rs104894060, rs144495588, rs750162094, rs386834130 RCV000002936
RCV000763180
RCV005042399
RCV005047096
RCV002483067
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Central core myopathy Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL 8 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 36011304 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 25806950 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 25806950, 26657971
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 34201538 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Ceroid lipofuscinosis neuronal 8 Neuronal ceroid lipofuscinosis Pubtator 16086686, 36011304 Associate
★☆☆☆☆
Found in Text Mining only
Ceroid Lipofuscinosis, Neuronal, 7 Neuronal ceroid lipofuscinosis BEFREE 11589000
★☆☆☆☆
Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 8 Neuronal ceroid lipofuscinosis GENOMICS_ENGLAND_DG 10508524, 16570191, 27604308
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 8 Neuronal ceroid lipofuscinosis CLINVAR_DG 10861296, 15024724, 15160397, 16828266, 19201763, 19807737, 21990111, 22220808, 26075876, 28116333
★★☆☆☆
Found in Text Mining + Unknown/Other Associations