CLN8

GENERAL INFORMATION

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Gene name

CLN8

Gene description

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CLN8 (HGNC Symbol)

Synonyms

C8orf61, EPMR, FLJ39417

Description

Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (HGNC Symbol)

Entrez gene 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 progressive epilepsy with mental retardation (EMPR), 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 2008]

Chromosome

8

Cytoband

p23.3

Chromosome location (bp)

1755778 - 1786572

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182372 (version 78.38)

Entrez gene

2055

UniProt

Q9UBY8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBY8

Antibodypedia

CLN8 antibodies


PROTEIN BROWSER

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ENST00000331222
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLN8-001 ENSP00000328182
ENST00000331222
Q9UBY8
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