Description

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

Synonyms

CTNS-LSB, PQLC4

Location

Chromosome 17: 3,636,468-3,661,542 forward strand.

GRCh38:CM000679.2

About this gene

This gene has 10 transcripts (splice variants), 64 orthologues, is a member of 6 Ensembl protein families and is associated with 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
CTNS-001ENST000000466402866367aaENSP00000046640
 
Protein coding
CCDS11031O60931 NM_004937
NP_004928
TSL:1GENCODE basicAPPRIS P1
CTNS-002ENST000003818702470400aaENSP00000371294
 
Protein coding
CCDS32530O60931 NM_001031681
NP_001026851
TSL:1GENCODE basic
CTNS-005ENST00000399306803122aaENSP00000382245
 
Protein coding
-A8MXW3 -TSL:3GENCODE basic
CTNS-003ENST0000045211161775aaENSP00000408652
 
Protein coding
-C9JMM9 -CDS 3' incompleteTSL:3
CTNS-010ENST0000057421858128aaENSP00000458912
 
Protein coding
-I3L1K8 -CDS 3' incompleteTSL:5
CTNS-009ENST0000057477656520aaENSP00000461118
 
Protein coding
-I3L4A9 -CDS 3' incompleteTSL:4
CTNS-008ENST00000576979548163aaENSP00000458457
 
Protein coding
-I3L0Z6 -CDS 3' incompleteTSL:5
CTNS-006ENST0000046766359053aaENSP00000461056
 
Nonsense mediated decay
-I3L484 -TSL:3
CTNS-007ENST00000488623537No protein-
 
Processed transcript
---TSL:3
CTNS-004ENST00000495445536No protein-
 
Retained intron
---TSL:2

Gene-based displays