CTNS

GENERAL INFORMATION

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Gene name

CTNS

Gene description

Cystinosin, lysosomal cystine transporter

Protein class

Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Transporters

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

7
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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

CTNS (HGNC Symbol)

Synonyms

CTNS-LSB, PQLC4

Description

Cystinosin, lysosomal cystine transporter (HGNC Symbol)

Entrez gene summary

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Chromosome

17

Cytoband

p13.2

Chromosome location (bp)

3636468 - 3661542

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000040531 (version 78.38)

Entrez gene

1497

UniProt

O60931 (UniProt - Evidence at protein level)

neXtProt

NX_O60931

Antibodypedia

CTNS antibodies


PROTEIN BROWSER

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ENST00000046640
 
ENST00000381870
 
ENST00000399306
 
ENST00000452111
 
ENST00000574218
 
ENST00000574776
 
ENST00000576979
 
 
 
 


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)

CTNS-001 ENSP00000046640
ENST00000046640
O60931
Show all »
Show » Show » 367 41.7 Yes 6
CTNS-002 ENSP00000371294
ENST00000381870
O60931
Show all »
Show » Show » 400 45 Yes 6
CTNS-003 ENSP00000408652
ENST00000452111
C9JMM9
Show all »
Show » 75 8.4 Yes 0
CTNS-005 ENSP00000382245
ENST00000399306
A8MXW3
Show all »
Show » 122 13.5 Yes 0
CTNS-008 ENSP00000458457
ENST00000576979
I3L0Z6
Show all »
Show » 163 18.4 Yes 1
CTNS-009 ENSP00000461118
ENST00000574776
I3L4A9
Show all »
Show » 20 2.4 No 0
CTNS-010 ENSP00000458912
ENST00000574218
I3L1K8
Show all »
Show » 28 3.2 No 1