Description

tuberous sclerosis 2 [Source:HGNC Symbol;Acc:HGNC:12363]

Synonyms

PPP1R160, LAM, TSC4, tuberin

Location

Chromosome 16: 2,047,465-2,088,720 forward strand.

GRCh38:CM000678.2

About this gene

This gene has 26 transcripts (splice variants), 76 orthologues, 9 paralogues, is a member of 1 Ensembl protein family and is associated with 61 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TSC2-201ENST00000219476.761561807aaENSP00000219476
 
Protein coding
CCDS10458P49815 NM_000548
NP_000539
TSL:5GENCODE basicAPPRIS P3
TSC2-202ENST00000350773.855321784aaENSP00000344383
 
Protein coding
CCDS45384P49815 NM_001114382
NP_001107854
TSL:1GENCODE basicAPPRIS ALT2
TSC2-222ENST00000568454.554341751aaENSP00000454487
 
Protein coding
CCDS81932H3BMQ0 NM_001318832
NP_001305761
TSL:2GENCODE basicAPPRIS ALT2
TSC2-204ENST00000401874.654211740aaENSP00000384468
 
Protein coding
CCDS58408P49815 X5D7Q2 NM_001077183
NP_001070651
TSL:1GENCODE basicAPPRIS ALT2
TSC2-207ENST00000439673.652871704aaENSP00000399232
 
Protein coding
CCDS81933P49815 NM_001318827
NM_001318831
NP_001305756
NP_001305760
TSL:2GENCODE basicAPPRIS ALT2
TSC2-203ENST00000382538.1052641692aaENSP00000371978
 
Protein coding
CCDS81934P49815 NM_001318829
NP_001305758
TSL:2GENCODE basicAPPRIS ALT2
TSC2-225ENST00000569110.11687535aaENSP00000455817
 
Protein coding
-H3BQK4 -CDS 5' incompleteTSL:5
TSC2-211ENST00000467949.1590196aaENSP00000454997
 
Protein coding
-H3BNT5 -CDS 5' and 3' incompleteTSL:4
TSC2-205ENST00000432909.2374125aaENSP00000387937
 
Protein coding
-C9JX95 -CDS 5' and 3' incompleteTSL:3
TSC2-206ENST00000439117.65073108aaENSP00000406980
 
Nonsense mediated decay
-Q5HYF7 -TSL:1
TSC2-212ENST00000471143.557732aaENSP00000458541
 
Nonsense mediated decay
-I3L134 -CDS 5' incompleteTSL:4
TSC2-213ENST00000483020.556335aaENSP00000460310
 
Nonsense mediated decay
-I3L3B1 -CDS 5' incompleteTSL:4
TSC2-223ENST00000568566.554230aaENSP00000455997
 
Nonsense mediated decay
-H3BQY7 -CDS 5' incompleteTSL:3
TSC2-221ENST00000568366.5767No protein-
 
Processed transcript
---TSL:4
TSC2-218ENST00000562474.1589No protein-
 
Processed transcript
---TSL:5
TSC2-216ENST00000497886.53248No protein-
 
Retained intron
---TSL:2
TSC2-226ENST00000569930.12621No protein-
 
Retained intron
---TSL:2
TSC2-208ENST00000461648.21071No protein-
 
Retained intron
---TSL:2
TSC2-210ENST00000463808.1842No protein-
 
Retained intron
---TSL:2
TSC2-224ENST00000568692.1636No protein-
 
Retained intron
---TSL:3
TSC2-209ENST00000463601.1600No protein-
 
Retained intron
---TSL:3
TSC2-214ENST00000488675.5567No protein-
 
Retained intron
---TSL:2
TSC2-217ENST00000561695.1555No protein-
 
Retained intron
---TSL:2
TSC2-219ENST00000563346.1553No protein-
 
Retained intron
---TSL:2
TSC2-215ENST00000490108.1482No protein-
 
Retained intron
---TSL:4
TSC2-220ENST00000568238.1422No protein-
 
Retained intron
---TSL:3

Gene-based displays