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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000046640.3 | CTNS-001 | 2866 | 367aa | ENSP00000046640.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11031 | C9JMM9 F5H4I4 I3L0Z6 I3L1K8 I3L4A9 O60931 | NM_004937.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000381870.3 | CTNS-002 | 2470 | 400aa | ENSP00000371294.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32530 | C9JMM9 I3L0Z6 I3L1K8 I3L4A9 O60931 | NM_001031681.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000441220.2 | CTNS-202 | 1570 | 292aa | ENSP00000411465.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W6Z1 I3L1K8 I3L4A9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000414524.2 | CTNS-201 | 1506 | 220aa | ENSP00000395471.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H4I4 I3L1K8 I3L4A9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000399306.2 | CTNS-005 | 803 | 122aa | ENSP00000382245.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXW3 C9JMM9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000452111.1 | CTNS-003 | 617 | 75aa | ENSP00000408652.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMM9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000574218.1 | CTNS-010 | 581 | 28aa | ENSP00000458912.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I3L1K8 I3L4A9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000574776.1 | CTNS-009 | 565 | 20aa | ENSP00000461118.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | I3L4A9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000576979.1 | CTNS-008 | 548 | 162aa | ENSP00000458457.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMM9 I3L0Z6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000467663.1 | CTNS-006 | 590 | 53aa | ENSP00000461056.1 | Nonsense mediated decay | I3L484 | - | - | |
ENST00000488623.1 | CTNS-007 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000495445.1 | CTNS-004 | 536 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |