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), 202 orthologues and is associated with 9 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| 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 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| 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 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000441220.2 | CTNS-202 | 1570 | 292aa | ENSP00000411465.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W6Z1 I3L1K8 I3L4A9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000414524.2 | CTNS-201 | 1506 | 220aa | ENSP00000395471.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H4I4 I3L1K8 I3L4A9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000399306.2 | CTNS-005 | 803 | 122aa | ENSP00000382245.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXW3 C9JMM9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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 | - | - | - |
