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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
701
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLN8-related disorder Likely pathogenic; Pathogenic rs104894060 RCV002291264
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
RCV002007433
RCV001941941
RCV002266506
RCV000820654
RCV001851598
RCV000805014
RCV003532006
RCV003078046
RCV003082535
RCV002594682
RCV002695903
RCV000503130
RCV002766555
RCV002871121
RCV002943581
RCV000988028
RCV003014527
RCV000230938
RCV003230799
RCV003533885
RCV003533876
RCV003531719
RCV003531753
RCV003531789
RCV003531733
RCV003531840
RCV003648286
RCV003648442
RCV003532091
RCV001850955
RCV000538526
RCV001229215
RCV002544675
RCV001868250
RCV001381243
RCV002532124
RCV001855577
RCV001045975
RCV000810062
RCV000464589
RCV001377678
RCV001385516
RCV000988029
RCV001057047
RCV001224910
RCV001236145
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
RCV000169279
RCV000665564
RCV003388644
RCV003388908
RCV003388919
RCV000409684
RCV000410063
RCV000410670
RCV000677235
RCV000671057
RCV000674890
RCV000673003
RCV000670971
RCV000666024
RCV000674248
RCV000668307
RCV000671294
RCV000671415
RCV000672400
RCV000672329
RCV000673946
RCV005047096
RCV000050116
RCV000050117
RCV000050118
RCV000050119
RCV000050121
RCV000050123
RCV000050126
RCV000050127
RCV000050129
RCV000050131
RCV000050132
RCV000050133
RCV002250732
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Pathogenic; Likely pathogenic rs104894064, rs104894060, rs144495588, rs750162094, rs386834130 RCV000002936
RCV000763180
RCV005042399
RCV005047096
RCV002483067
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs863224859 -
Central core myopathy Benign rs150047904 RCV001258280
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs113428006 RCV005890628
Familial pancreatic carcinoma Benign rs113428006 RCV005890625
Associations from Text MiningDisease 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