Human (GRCh37.p13)
Description

cystinosin, lysosomal cystine transporter [Source:HGNC Symbol;Acc:2518]

Gene Synonyms

CTNS-LSB, PQLC4

Location

Chromosome 17: 3,539,762-3,564,836 forward strand.

GRCh37:CM000679.1

About this gene

This gene has 12 transcripts (splice variants) and is associated with 9 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000046640.3CTNS-0012866367aaENSP00000046640.3
 
Protein coding
CCDS11031C9JMM9 F5H4I4 I3L0Z6
I3L1K8 I3L4A9 O60931
NM_004937.2GENCODE basic
ENST00000381870.3CTNS-0022470400aaENSP00000371294.3
 
Protein coding
CCDS32530C9JMM9 I3L0Z6 I3L1K8
I3L4A9 O60931
NM_001031681.2GENCODE basic
ENST00000441220.2CTNS-2021570292aaENSP00000411465.2
 
Protein coding
F8W6Z1 I3L1K8 I3L4A9
-GENCODE basic
ENST00000414524.2CTNS-2011506220aaENSP00000395471.2
 
Protein coding
F5H4I4 I3L1K8 I3L4A9
-GENCODE basic
ENST00000399306.2CTNS-005803122aaENSP00000382245.2
 
Protein coding
A8MXW3 C9JMM9 -GENCODE basic
ENST00000452111.1CTNS-00361775aaENSP00000408652.1
 
Protein coding
C9JMM9 -CDS 3' incomplete
ENST00000574218.1CTNS-01058128aaENSP00000458912.1
 
Protein coding
I3L1K8 I3L4A9 -CDS 3' incomplete
ENST00000574776.1CTNS-00956520aaENSP00000461118.1
 
Protein coding
I3L4A9 -CDS 3' incomplete
ENST00000576979.1CTNS-008548162aaENSP00000458457.1
 
Protein coding
C9JMM9 I3L0Z6 -CDS 3' incomplete
ENST00000467663.1CTNS-00659053aaENSP00000461056.1
 
Nonsense mediated decay
I3L484 --
ENST00000488623.1CTNS-007537No protein-
 
Processed transcript
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ENST00000495445.1CTNS-004536No protein-
 
Retained intron
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