CLN3

GENERAL INFORMATION

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Gene name

CLN3

Gene description

Ceroid-lipofuscinosis, neuronal 3

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

16
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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

Protein localization

Cytoplasmic expression in a number of tissues, most prominent in smooth muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Uncertain based on 1 antibody.
HPA063280
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RNA AND PROTEIN EXPRESSION SUMMARY

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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

Smooth muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



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

CLN3 (HGNC Symbol)

Synonyms

BTS, JNCL

Description

Ceroid-lipofuscinosis, neuronal 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

16

Cytoband

p12.1

Chromosome location (bp)

28477279 - 28495575

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188603 (version 78.38)

Entrez gene

1201

UniProt

Q13286 (UniProt - Evidence at protein level)

neXtProt

NX_Q13286

Antibodypedia

CLN3 antibodies


PROTEIN BROWSER

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ENST00000333496
 
ENST00000355477
 
ENST00000357806
 
ENST00000357857
 
ENST00000359984
 
ENST00000360019
 
ENST00000395653
 
ENST00000561505
 
ENST00000565316
 
ENST00000565688
 
ENST00000565778
 
ENST00000567804
 
ENST00000567963
 
ENST00000568443
 
ENST00000568558
 
ENST00000569430
 
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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)

CLN3-001 ENSP00000454229
ENST00000569430
Q13286
Show all »
Show » Show » 438 47.6 No 9
CLN3-005 ENSP00000455387
ENST00000567963
H3BPM8
Show all »
Show » Show » 341 36.3 No 6
CLN3-006 ENSP00000329171
ENST00000333496
B4DXL3
Show all »
Show » Show » 414 45.2 No 9
CLN3-007 ENSP00000379014
ENST00000395653
B4DMY6
Show all »
Show » Show » 338 37 No 8
CLN3-008 ENSP00000350457
ENST00000357806
Q13286
Show all »
Show » Show » 339 38 No 6
CLN3-009 ENSP00000455603
ENST00000568558
H3BQ48
Show all »
Show » Show » 184 20.7 No 1
CLN3-012 ENSP00000350523
ENST00000357857
B4DFF3
Show all »
Show » Show » 384 41.6 No 8
CLN3-014 ENSP00000458015
ENST00000565778
O95090
Show all »
Show » Show » 167 18.5 No 0
CLN3-017 ENSP00000454899
ENST00000568443
H3BNK7
Show all »
Show » Show » 175 18.9 No 2
CLN3-020 ENSP00000456117
ENST00000565316
Q13286
Show all »
Show » Show » 421 45.6 No 8
CLN3-027 ENSP00000455365
ENST00000567804
H3BPL0
Show all »
Show » Show » 74 8.2 No 1
CLN3-030 ENSP00000456122
ENST00000565688
H3BR84
Show all »
Show » Show » 176 18.3 No 4
CLN3-031 ENSP00000457615
ENST00000561505
H3BUF8
Show all »
Show » Show » 121 12.5 No 3
CLN3-201 ENSP00000347660
ENST00000355477
Q9UBD8
Show all »
Show » Show » 181 19.3 No 3
CLN3-202 ENSP00000353073
ENST00000359984
O95086
Show all »
Show » Show » 336 36.8 No 7
CLN3-203 ENSP00000353116
ENST00000360019
Q13286
Show all »
Show » Show » 438 47.6 No 9