Description
tuberous sclerosis 2 [Source:HGNC Symbol;Acc:12363]
Gene Synonyms
LAM, TSC4, tuberin
Location
Chromosome 16: 2,097,466-2,138,716 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 27 transcripts (splice variants), 2 paralogues and is associated with 150 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000219476.3 | TSC2-001 | 6156 | 1807aa | ENSP00000219476.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10458 | P49815 | NM_000548.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000350773.4 | TSC2-004 | 5532 | 1784aa | ENSP00000344383.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45384 | P49815 | NM_001114382.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000353929.4 | TSC2-201 | 5502 | 1764aa | ENSP00000248099.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P49815 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000568454.1 | TSC2-006 | 5429 | 1751aa | ENSP00000454487.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BMQ0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000401874.2 | TSC2-003 | 5421 | 1740aa | ENSP00000384468.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS58408 | P49815 | NM_001077183.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000439673.2 | TSC2-017 | 5287 | 1704aa | ENSP00000399232.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | P49815 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000382538.6 | TSC2-007 | 5264 | 1692aa | ENSP00000371978.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DIL8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000569110.1 | TSC2-019 | 1687 | 535aa | ENSP00000455817.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000467949.1 | TSC2-009 | 590 | 196aa | ENSP00000454997.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BNT5 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000432909.2 | TSC2-020 | 374 | 125aa | ENSP00000387937.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000439117.2 | TSC2-002 | 5073 | 108aa | ENSP00000406980.2 | Nonsense mediated decay | Q5HYF7 | - | - | |
| ENST00000471143.1 | TSC2-014 | 577 | 32aa | ENSP00000458541.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000483020.1 | TSC2-015 | 563 | 35aa | ENSP00000460310.1 | Nonsense mediated decay | I3L3B1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568566.1 | TSC2-021 | 542 | 30aa | ENSP00000455997.1 | Nonsense mediated decay | H3BQY7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000568366.1 | TSC2-024 | 767 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000562474.1 | TSC2-027 | 589 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497886.1 | TSC2-005 | 3248 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569930.1 | TSC2-016 | 2621 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000461648.2 | TSC2-008 | 1071 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463808.1 | TSC2-013 | 842 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568692.1 | TSC2-026 | 636 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000463601.1 | TSC2-010 | 600 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000488675.1 | TSC2-012 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561695.1 | TSC2-025 | 555 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000563346.1 | TSC2-023 | 553 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000490108.1 | TSC2-011 | 482 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568238.1 | TSC2-022 | 422 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
