CLN8 - CLN8 transmembrane ER and ERGIC protein Gene

Also Known as EPMR; TLCD6; C8orf61

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2055

About CLN8

Cytogenetic location: 8p23.3 Genomic coordinates (GRCh38): 8:1,753,059-1,786,570 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 185 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 5.7), spleen (RPKM 4.0) and 25 other tissues.

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 between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and Phospholipids in the brain. [provided by RefSeq, Jul 2017]

CLN8 Products (1)

mRNA	Protein	Name
NM_018941.4	NP_061764.2	protein CLN8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ceramide binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17237713	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide metabolic process	IMP IMP: Inferred from mutant phenotype	16086686	GOA
involved in cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	16086686	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	10508524	GOA
involved in phospholipid metabolic process	IMP IMP: Inferred from mutant phenotype	16086686	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10861296	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	10861296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLN8 Protein Structure

TRAM_LAG1_CLN8

0
100
200
286 a.a.

Protein Preferred Names	Protein Names
protein CLN8	ceroid-lipofuscinosis, neuronal 8

Related Diseases

Diseases	Alias
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Northern Epilepsy Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant Epmr Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Northern Epilepsy Syndrome Epilepsy, Progressive, With Mental Retardation Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy With Mental Retardation, Northern Epilepsy Cln8 Disease, Northern Epilepsy Variant Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant CLN8NE Ceroid Lipofuscinosis, Neuronal, 8
Ceroid Lipofuscinosis, Neuronal, 8	Neuronal Ceroid Lipofuscinosis 8 CLN8 Cln8 Disease Epilepsy Mental Deterioration Finnish Type Northern Epilepsy Cln8 Disease, Epmr Cln8 Disease, Northern Epilepsy Variant Cln8 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal 8 Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy - Intellectual Disability, Finnish Type Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Turkish Variant Late Infantile Ncl Ceroid Lipofuscinosis, Neuronal 8 Lipofuscinosis, Ceroid, Neuronal, Type 8 Northern Epilepsy Syndrome
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Neuronal Ceroid-Lipofuscinoses	Infantile Neuronal Ceroid Lipofuscinosis Santavuori Disease Hagberg-Santavuori Disease Incl Infantile Ncl Santavuori-Haltia Disease Neuronal Ceroid-Lipofuscinosis, Infantile Lipofuscin Storage Disease Neuronal Ceroid Lipofuscinoses Juvenile Neuronal Ceroid Lipofuscinosis
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Ceroid Lipofuscinosis, Neuronal, 2	Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis 2 CLN2 Lincl Cln2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset Cln2 Disease, Juvenile Cln2 Disease, Late Infantile Late-Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Late-Infantile Classic Late Infantile Ncl Classic Late Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 2 Late-Infantile Neuronal Ceroid Lipfuscinosis
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Epilepsy, Idiopathic Generalized 5	EIG5 Epilepsy, Idiopathic Generalized, Susceptibility To, 5 Idiopathic Generalized Epilepsy 5 Epilepsy, Idiopathic Generalized Locus On Chromosome 10 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10
Progressive Myoclonus Epilepsy 3	Cln14 Disease Epm3 Neuronal Ceroid Lipofuscinosis 14 Pme Type 3 Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency Progressive Myoclonus Epilepsy Type 3 Epilepsy, Progressive Myoclonic 3
Combined Oxidative Phosphorylation Deficiency 32	COXPD32
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Spinocerebellar Ataxia, Autosomal Recessive 7	SCAR7 Autosomal Recessive Spinocerebellar Ataxia 7 Spinocerebellar Ataxia Autosomal Recessive 7 Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia, Autosomal Recessive, 7 Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Visual Epilepsy	Seizures Epilepsy, Visual Visual Seizure Acute Symptomatic Seizure Provoked Seizure Nonepileptic Seizure Disorder Uncontrolled Seizures Seizure Nos Fits Nos Onset Seizure Nos Seizure Disturbance
Ceroid Lipofuscinosis, Neuronal, 9	Neuronal Ceroid Lipofuscinosis 9 CLN9 Cln 9 Cln9 Disease
Ceroid Lipofuscinosis, Neuronal, 13	Neuronal Ceroid Lipofuscinosis 13 CLN13 Neuronal Ceroid Lipofuscinosis 13 Kufs Type Cln13 Disease Lipofuscinosis, Ceroid, Neuronal, Type 13
Ceroid Lipofuscinosis, Neuronal, 10	Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Neuronal Ceroid Lipofuscinosis 10 CLN10 Cathepsin D Deficiency Congenital Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient Cln10 Disease Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient Cln10 Disease, Adult Cln10 Disease, Congenital Cln10 Disease, Juvenile Cln10 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis Congenital Ncl Lipofuscinosis, Ceroid, Neuronal, Type 10 Neuronal Ceroid Lipofuscinosis, Congenital
Ceroid Lipofuscinosis, Neuronal, 7	CLN7 Neuronal Ceroid Lipofuscinosis 7 Cln7 Disease Cln7 Disease, Late Infantile Mfsd8-Related Neuronal Ceroid Lipofuscinosis Turkish Variant Late Infantile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 7
Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency Type 2 Naga Deficiency Type 2 Schindler Disease, Type Ii Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease Type 2 Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset Naga Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset KANZD Naga Deficiency Type Ii Schindler Disease Type Ii
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02825	CLN8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CLN8	MGD	MGI:1349447
Bos taurus	CLN8	VGNC	VGNC:106692
Macaca mulatta	CLN8	VGNC	VGNC:99469
Rattus norvegicus	CLN8	RGD	RGD:1359518
Others	CLN8	NCBI