CLN6

GENERAL INFORMATION

? »

Gene name

CLN6

Gene description

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA066046
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

CLN6 (HGNC Symbol)

Synonyms

FLJ20561, HsT18960, nclf

Description

Ceroid-lipofuscinosis, neuronal 6, late infantile, variant (HGNC Symbol)

Entrez gene summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

Chromosome

15

Cytoband

q23

Chromosome location (bp)

68206992 - 68257211

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000128973 (version 78.38)

Entrez gene

54982

UniProt

Q9NWW5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NWW5

Antibodypedia

CLN6 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000249806
 
ENST00000538696
 
ENST00000564752
 
ENST00000565471
 
ENST00000566347
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLN6-001 ENSP00000249806
ENST00000249806
Q9NWW5
Show all »
Show » Show » 311 35.9 No 5
CLN6-004 ENSP00000445770
ENST00000538696
Q9NWW5
Show all »
Show » Show » 343 39.5 No 5
CLN6-005 ENSP00000457783
ENST00000566347
H3BUT1
Show all »
Show » Show » 248 28.7 No 4
CLN6-006 ENSP00000457822
ENST00000564752
H3BUV4
Show all »
Show » Show » 213 23.5 No 2
CLN6-008 ENSP00000457384
ENST00000565471
H3BTY4
Show all »
Show » 158 18 No 3