Reviewed, UniProtKB/Swiss-Prot P49815 (TSC2_HUMAN)

Names and origin

Protein names

Recommended name:
    Tuberin
Alternative name(s):
    Tuberous sclerosis 2 protein

Gene names

Name:	TSC2
Synonyms:	TSC4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1807 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Implicated as a tumor suppressor. May have a function in vesicular transport, but may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking. Specifically stimulates the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5. Suggesting a possible mechanism for its role in regulating cellular growth. Mutations in TSC2 leads to constitutive activation of RAP1A in tumors.
Subunit structure	Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5 Probable. Interacts with HSPA1 and HSPA8.
Subcellular location	Cytoplasm. Membrane; Peripheral membrane protein. Note: At steady state found in association with membranes.
Tissue specificity	Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
Post-translational modification	Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1.
Involvement in disease	Defects in TSC2 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. The molecular basis of TSC is a functional impairment of the tuberin-hamartin complex. TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes. Ref.8 Ref.9 Ref.10 Ref.12 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.28 Ref.29 Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. Ref.27
Sequence similarities	Contains 1 Rap-GAP domain.

Ontologies

Keywords
Biological process	Cell cycle
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Molecular function	Anti-oncogene GTPase activation
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW endocytosis Ref.7 Traceable author statement. Source: ProtInc heart development Inferred from sequence or structural similarity. Source: UniProtKB insulin-like growth factor receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of cell cycle Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell proliferation Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of phosphoinositide 3-kinase cascade Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of protein kinase B signaling cascade Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of protein kinase activity Inferred from sequence or structural similarity. Source: UniProtKB neural tube closure Inferred from sequence or structural similarity. Source: UniProtKB positive chemotaxis Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of GTPase activity Inferred from electronic annotation. Source: InterPro protein import into nucleus Inferred from sequence or structural similarity. Source: UniProtKB protein kinase B signaling cascade Inferred from sequence or structural similarity. Source: UniProtKB regulation of endocytosis Inferred from sequence or structural similarity. Source: UniProtKB regulation of insulin receptor signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB regulation of small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	Golgi apparatus Ref.9 Inferred from direct assay. Source: UniProtKB TSC1-TSC2 complex Ref.8 Inferred from direct assay. Source: UniProtKB membrane Inferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Inferred from direct assay. Source: UniProtKB nucleus Inferred from direct assay. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay. Source: UniProtKB
Molecular function	GTPase activator activity Ref.7 Inferred from direct assay. Source: UniProtKB protein homodimerization activity Ref.9 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TSC1	Q92574	3	EBI-396587,EBI-1386638
YWHAQ	P27348	1	EBI-396587,EBI-359854

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: P49815-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P49815-2)

The sequence of this isoform differs from the canonical sequence as follows:
     946-988: Missing.

Isoform 3 (identifier: P49815-3)

The sequence of this isoform differs from the canonical sequence as follows:
     946-989: Missing.

Isoform 4 (identifier: P49815-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1272-1294: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1807	1807	Tuberin		PRO_0000065654
Regions
	Domain	1531 – 1758	228	Rap-GAP
Amino acid modifications
	Modified residue	927	1	Phosphothreonine Ref.15
	Modified residue	981	1	Phosphoserine Ref.15
	Modified residue	1097	1	Phosphoserine Ref.13
	Modified residue	1132	1	Phosphoserine Ref.15
	Modified residue	1155	1	Phosphoserine Ref.15 Ref.13 Ref.14
	Modified residue	1334	1	Phosphoserine Ref.15
	Modified residue	1337	1	Phosphoserine Ref.15
	Modified residue	1338	1	Phosphoserine Ref.15
	Modified residue	1341	1	Phosphoserine Ref.15
	Modified residue	1364	1	Phosphoserine By similarity
	Modified residue	1387	1	Phosphoserine Ref.10
	Modified residue	1411	1	Phosphoserine Ref.15 Ref.14 Ref.11
	Modified residue	1418	1	Phosphoserine Ref.10
	Modified residue	1420	1	Phosphoserine Ref.10 Ref.15
	Modified residue	1449	1	Phosphoserine Ref.15
	Modified residue	1452	1	Phosphoserine Ref.15
	Modified residue	1798	1	Phosphoserine Ref.11
Natural variations
	Alternative sequence	946 – 989	44	Missing in isoform 3.		VSP_004471
	Alternative sequence	946 – 988	43	Missing in isoform 2.		VSP_004470
	Alternative sequence	1272 – 1294	23	Missing in isoform 4.		VSP_004472
	Natural variant	94	1	T → P		VAR_008019
	Natural variant	137	1	H → R in TSC; could be a polymorphism. Ref.25		VAR_009415
	Natural variant	160	1	L → V		VAR_009416
	Natural variant	227	1	C → Y in TSC.		VAR_008020
	Natural variant	258	1	K → N in TSC.		VAR_009417
	Natural variant	261	1	R → P in TSC.		VAR_009418
	Natural variant	261	1	R → W		VAR_009419
	Natural variant	286	1	M → T		VAR_009420
	Natural variant	286	1	M → V: dbSNP rs1800748.		VAR_009421
	Natural variant	292	1	L → P in TSC.		VAR_005646
	Natural variant	294	1	G → E in TSC.		VAR_009422
	Natural variant	304	1	W → WGMALW in TSC.		VAR_009423
	Natural variant	309	1	L → Q		VAR_009424
	Natural variant	320	1	F → L in TSC; could be a polymorphism characteristic to the Asian population. Ref.25		VAR_009425
	Natural variant	331	1	N → K in TSC.		VAR_008021
	Natural variant	361	1	L → P in TSC.		VAR_009426
	Natural variant	365	1	Missing in TSC.		VAR_009427
	Natural variant	367	1	R → Q: dbSNP rs1800725. Ref.29		VAR_009428
	Natural variant	378	1	P → L		VAR_009429
	Natural variant	407	1	Y → D in TSC.		VAR_005647
	Natural variant	440	1	G → S		VAR_009430
	Natural variant	449	1	M → I in TSC. Ref.16		VAR_005648
	Natural variant	463	1	I → V		VAR_009431
	Natural variant	486	1	N → I in TSC.		VAR_008022
	Natural variant	490	1	I → V		VAR_008023
	Natural variant	525	1	N → S in TSC.		VAR_009432
	Natural variant	536	1	A → V		VAR_008024
	Natural variant	583	1	A → T: dbSNP rs1800729.		VAR_009433
	Natural variant	593	1	H → R		VAR_009434
	Natural variant	599	1	K → M in TSC.		VAR_009435
	Natural variant	607	1	A → T Ref.28		VAR_005649
	Natural variant	611	1	R → Q in TSC and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420.		VAR_005650
	Natural variant	611	1	R → W in TSC; impairs phosphorylation at S-1387, S-1418 and S-1420. Ref.10 Ref.16 Ref.25 Ref.26 Ref.29		VAR_005651
	Natural variant	614	1	A → D in TSC.		VAR_009436
	Natural variant	615	1	F → S		VAR_008025
	Natural variant	647	1	D → N in TSC; could be a polymorphism. Ref.25		VAR_009437
	Natural variant	694	1	Missing in TSC.		VAR_009438
	Natural variant	696	1	C → Y in TSC.		VAR_009439
	Natural variant	717	1	L → R in TSC. Ref.22 Ref.25		VAR_009440
	Natural variant	769	1	V → E in TSC; could be a polymorphism. Ref.25		VAR_009441
	Natural variant	816	1	P → L in TSC.		VAR_008026
	Natural variant	826	1	L → M in TSC.		VAR_005652
	Natural variant	862	1	A → V Ref.28		VAR_018600
	Natural variant	895	1	M → V in TSC.		VAR_009442
	Natural variant	905	1	R → Q in TSC. Ref.26		VAR_005653
	Natural variant	905	1	R → W in TSC. Ref.26		VAR_005654
	Natural variant	963	1	V → M in TSC; could be a polymorphism. Ref.25		VAR_009443
	Natural variant	1027	1	L → P in TSC. Ref.29		VAR_022919
	Natural variant	1084	1	D → E in TSC.		VAR_005655
	Natural variant	1141	1	A → V: dbSNP rs34870424.		VAR_057014
	Natural variant	1144	1	V → M in TSC.		VAR_008027
	Natural variant	1200	1	R → W in TSC.		VAR_005656
	Natural variant	1227	1	P → L in TSC. Ref.16		VAR_005657
	Natural variant	1240	1	R → W in TSC. Ref.16		VAR_005658
	Natural variant	1282	1	S → G		VAR_009444
	Natural variant	1295	1	D → V in TSC.		VAR_005659
	Natural variant	1315	1	P → S in TSC.		VAR_008028
	Natural variant	1329	1	R → H in TSC.		VAR_008029
	Natural variant	1341	1	S → R Ref.29		VAR_022920
	Natural variant	1429	1	A → S Ref.28		VAR_018601
	Natural variant	1450	1	P → R Ref.28		VAR_018602
	Natural variant	1497	1	P → R in TSC.		VAR_009445
	Natural variant	1498	1	S → N in TSC.		VAR_009446
	Natural variant	1509	1	Missing in TSC; could be a rare polymorphism. Ref.16 Ref.17		VAR_005660
	Natural variant	1549	1	Y → C in TSC.		VAR_005661
	Natural variant	1594	1	L → M in TSC; could be a polymorphism. Ref.17		VAR_009447
	Natural variant	1614	1	Missing in TSC.		VAR_005662
	Natural variant	1620	1	H → Y in TSC.		VAR_009448
	Natural variant	1636	1	D → N Ref.29		VAR_022921
	Natural variant	1643	1	N → I in TSC. Ref.17		VAR_005663
	Natural variant	1643	1	N → K in TSC. Ref.17		VAR_009449
	Natural variant	1650	1	Y → C in TSC.		VAR_005664
	Natural variant	1651	1	N → S in TSC. Ref.17 Ref.28		VAR_009450
	Natural variant	1653	1	S → F in TSC. Ref.28		VAR_018603
	Natural variant	1673	1	V → L Ref.29		VAR_022922
	Natural variant	1675	1	P → L in TSC. Ref.17 Ref.25 Ref.28		VAR_009451
	Natural variant	1681	1	N → K in TSC. Ref.17		VAR_009452
	Natural variant	1690	1	D → Y in TSC.		VAR_005665
	Natural variant	1704	1	S → T in TSC.		VAR_009453
	Natural variant	1709	1	P → L in TSC.		VAR_008030
	Natural variant	1712	1	A → E in TSC. Ref.16		VAR_005666
	Natural variant	1743	1	R → P in TSC.		VAR_009454
	Natural variant	1743	1	R → Q in TSC.		VAR_008031
	Natural variant	1744	1	L → P in TSC. Ref.26		VAR_009455
	Natural variant	1746 – 1751	6	Missing in TSC. Ref.26 Ref.28		VAR_009456
	Natural variant	1750	1	L → F in TSC.		VAR_005667
	Natural variant	1773	1	H → P in TSC.		VAR_008032
	Natural variant	1774	1	S → T: dbSNP rs9209.		VAR_057015
	Natural variant	1783	1	E → Q in TSC.		VAR_008033
	Natural variant	1787	1	G → S		VAR_009457
	Natural variant	1791	1	G → S		VAR_009458
Experimental info
	Sequence conflict	619	1	F → L Ref.1
	Sequence conflict	619	1	F → L Ref.3
	Sequence conflict	802	1	R → S in AAC34210. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 97C87ACDFC12D410	FASTA	1,807	200,749
	10 20 30 40 50 60 MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 70 80 90 100 110 120 IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERTLEARHA VLALLKAIVQ GQGERLGVLR 130 140 150 160 170 180 ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 190 200 210 220 230 240 VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 250 260 270 280 290 300 VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 310 320 330 340 350 360 MALWGAHRLY SLRNSPTSVF PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 370 380 390 400 410 420 LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 430 440 450 460 470 480 SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 490 500 510 520 530 540 EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 550 560 570 580 590 600 PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 610 620 630 640 650 660 SYTLPIASSI RLQAFDFLFL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 670 680 690 700 710 720 GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 730 740 750 760 770 780 VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 790 800 810 820 830 840 DKTKQREMVY CLEQGLIHRC ARQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 850 860 870 880 890 900 VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 910 920 930 940 950 960 RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKSLRIA RPPKQGLNNS 970 980 990 1000 1010 1020 PPVKEFKESS AAEAFRCRSI SVSEHVVRSR IQTSLTSASL GSADENSVAQ ADDSLKNLHL 1030 1040 1050 1060 1070 1080 ELTETCLDMM ARYVFSNFTA VPKRSPVGEF LLAGGRTKTW LVGNKLVTVT TSVGTGTRSL 1090 1100 1110 1120 1130 1140 LGLDSGELQS GPESSSSPGV HVRQTKEAPA KLESQAGQQV SRGARDRVRS MSGGHGLRVG 1150 1160 1170 1180 1190 1200 ALDVPASQFL GSATSPGPRT APAAKPEKAS AGTRVPVQEK TNLAAYVPLL TQGWAEILVR 1210 1220 1230 1240 1250 1260 RPTGNTSWLM SLENPLSPFS SDINNMPLQE LSNALMAAER FKEHRDTALY KSLSVPAAST 1270 1280 1290 1300 1310 1320 AKPPPLPRSN TVASFSSLYQ SSCQGQLHRS VSWADSAVVM EEGSPGEVPV LVEPPGLEDV 1330 1340 1350 1360 1370 1380 EAALGMDRRT DAYSRSSSVS SQEEKSLHAE ELVGRGIPIE RVVSSEGGRP SVDLSFQPSQ 1390 1400 1410 1420 1430 1440 PLSKSSSSPE LQTLQDILGD PGDKADVGRL SPEVKARSQS GTLDGESAAW SASGEDSRGQ 1450 1460 1470 1480 1490 1500 PEGPLPSSSP RSPSGLRPRG YTISDSAPSR RGKRVERDAL KSRATASNAE KVPGINPSFV 1510 1520 1530 1540 1550 1560 FLQLYHSPFF GDESNKPILL PNESQSFERS VQLLDQIPSY DTHKIAVLYV GEGQSNSELA 1570 1580 1590 1600 1610 1620 ILSNEHGSYR YTEFLTGLGR LIELKDCQPD KVYLGGLDVC GEDGQFTYCW HDDIMQAVFH 1630 1640 1650 1660 1670 1680 IATLMPTKDV DKHRCDKKRH LGNDFVSIVY NDSGEDFKLG TIKGQFNFVH VIVTPLDYEC 1690 1700 1710 1720 1730 1740 NLVSLQCRKD MEGLVDTSVA KIVSDRNLPF VARQMALHAN MASQVHHSRS NPTDIYPSKW 1750 1760 1770 1780 1790 1800 IARLRHIKRL RQRICEEAAY SNPSLPLVHP PSHSKAPAQT PAEPTPGYEV GQRKRLISSV EDFTEFV
	Isoform 2. Checksum: C9AA151F66931362	FASTA	1,764	195,988
	10 20 30 40 50 60 MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 70 80 90 100 110 120 IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERTLEARHA VLALLKAIVQ GQGERLGVLR 130 140 150 160 170 180 ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 190 200 210 220 230 240 VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 250 260 270 280 290 300 VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 310 320 330 340 350 360 MALWGAHRLY SLRNSPTSVF PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 370 380 390 400 410 420 LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 430 440 450 460 470 480 SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 490 500 510 520 530 540 EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 550 560 570 580 590 600 PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 610 620 630 640 650 660 SYTLPIASSI RLQAFDFLFL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 670 680 690 700 710 720 GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 730 740 750 760 770 780 VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 790 800 810 820 830 840 DKTKQREMVY CLEQGLIHRC ARQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 850 860 870 880 890 900 VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 910 920 930 940 950 960 RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKSRIQT SLTSASLGSA 970 980 990 1000 1010 1020 DENSVAQADD SLKNLHLELT ETCLDMMARY VFSNFTAVPK RSPVGEFLLA GGRTKTWLVG 1030 1040 1050 1060 1070 1080 NKLVTVTTSV GTGTRSLLGL DSGELQSGPE SSSSPGVHVR QTKEAPAKLE SQAGQQVSRG 1090 1100 1110 1120 1130 1140 ARDRVRSMSG GHGLRVGALD VPASQFLGSA TSPGPRTAPA AKPEKASAGT RVPVQEKTNL 1150 1160 1170 1180 1190 1200 AAYVPLLTQG WAEILVRRPT GNTSWLMSLE NPLSPFSSDI NNMPLQELSN ALMAAERFKE 1210 1220 1230 1240 1250 1260 HRDTALYKSL SVPAASTAKP PPLPRSNTVA SFSSLYQSSC QGQLHRSVSW ADSAVVMEEG 1270 1280 1290 1300 1310 1320 SPGEVPVLVE PPGLEDVEAA LGMDRRTDAY SRSSSVSSQE EKSLHAEELV GRGIPIERVV 1330 1340 1350 1360 1370 1380 SSEGGRPSVD LSFQPSQPLS KSSSSPELQT LQDILGDPGD KADVGRLSPE VKARSQSGTL 1390 1400 1410 1420 1430 1440 DGESAAWSAS GEDSRGQPEG PLPSSSPRSP SGLRPRGYTI SDSAPSRRGK RVERDALKSR 1450 1460 1470 1480 1490 1500 ATASNAEKVP GINPSFVFLQ LYHSPFFGDE SNKPILLPNE SQSFERSVQL LDQIPSYDTH 1510 1520 1530 1540 1550 1560 KIAVLYVGEG QSNSELAILS NEHGSYRYTE FLTGLGRLIE LKDCQPDKVY LGGLDVCGED 1570 1580 1590 1600 1610 1620 GQFTYCWHDD IMQAVFHIAT LMPTKDVDKH RCDKKRHLGN DFVSIVYNDS GEDFKLGTIK 1630 1640 1650 1660 1670 1680 GQFNFVHVIV TPLDYECNLV SLQCRKDMEG LVDTSVAKIV SDRNLPFVAR QMALHANMAS 1690 1700 1710 1720 1730 1740 QVHHSRSNPT DIYPSKWIAR LRHIKRLRQR ICEEAAYSNP SLPLVHPPSH SKAPAQTPAE 1750 1760 PTPGYEVGQR KRLISSVEDF TEFV
	Isoform 3. Checksum: 0F231A2CA18F1721	FASTA	1,763	195,901
	10 20 30 40 50 60 MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 70 80 90 100 110 120 IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERTLEARHA VLALLKAIVQ GQGERLGVLR 130 140 150 160 170 180 ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 190 200 210 220 230 240 VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 250 260 270 280 290 300 VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 310 320 330 340 350 360 MALWGAHRLY SLRNSPTSVF PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 370 380 390 400 410 420 LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 430 440 450 460 470 480 SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 490 500 510 520 530 540 EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 550 560 570 580 590 600 PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 610 620 630 640 650 660 SYTLPIASSI RLQAFDFLFL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 670 680 690 700 710 720 GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 730 740 750 760 770 780 VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 790 800 810 820 830 840 DKTKQREMVY CLEQGLIHRC ARQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 850 860 870 880 890 900 VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 910 920 930 940 950 960 RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKRIQTS LTSASLGSAD 970 980 990 1000 1010 1020 ENSVAQADDS LKNLHLELTE TCLDMMARYV FSNFTAVPKR SPVGEFLLAG GRTKTWLVGN 1030 1040 1050 1060 1070 1080 KLVTVTTSVG TGTRSLLGLD SGELQSGPES SSSPGVHVRQ TKEAPAKLES QAGQQVSRGA 1090 1100 1110 1120 1130 1140 RDRVRSMSGG HGLRVGALDV PASQFLGSAT SPGPRTAPAA KPEKASAGTR VPVQEKTNLA 1150 1160 1170 1180 1190 1200 AYVPLLTQGW AEILVRRPTG NTSWLMSLEN PLSPFSSDIN NMPLQELSNA LMAAERFKEH 1210 1220 1230 1240 1250 1260 RDTALYKSLS VPAASTAKPP PLPRSNTVAS FSSLYQSSCQ GQLHRSVSWA DSAVVMEEGS 1270 1280 1290 1300 1310 1320 PGEVPVLVEP PGLEDVEAAL GMDRRTDAYS RSSSVSSQEE KSLHAEELVG RGIPIERVVS 1330 1340 1350 1360 1370 1380 SEGGRPSVDL SFQPSQPLSK SSSSPELQTL QDILGDPGDK ADVGRLSPEV KARSQSGTLD 1390 1400 1410 1420 1430 1440 GESAAWSASG EDSRGQPEGP LPSSSPRSPS GLRPRGYTIS DSAPSRRGKR VERDALKSRA 1450 1460 1470 1480 1490 1500 TASNAEKVPG INPSFVFLQL YHSPFFGDES NKPILLPNES QSFERSVQLL DQIPSYDTHK 1510 1520 1530 1540 1550 1560 IAVLYVGEGQ SNSELAILSN EHGSYRYTEF LTGLGRLIEL KDCQPDKVYL GGLDVCGEDG 1570 1580 1590 1600 1610 1620 QFTYCWHDDI MQAVFHIATL MPTKDVDKHR CDKKRHLGND FVSIVYNDSG EDFKLGTIKG 1630 1640 1650 1660 1670 1680 QFNFVHVIVT PLDYECNLVS LQCRKDMEGL VDTSVAKIVS DRNLPFVARQ MALHANMASQ 1690 1700 1710 1720 1730 1740 VHHSRSNPTD IYPSKWIARL RHIKRLRQRI CEEAAYSNPS LPLVHPPSHS KAPAQTPAEP 1750 1760 TPGYEVGQRK RLISSVEDFT EFV
	Isoform 4. Checksum: 44299CD871CE2F47	FASTA	1,784	198,238
	10 20 30 40 50 60 MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 70 80 90 100 110 120 IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERTLEARHA VLALLKAIVQ GQGERLGVLR 130 140 150 160 170 180 ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 190 200 210 220 230 240 VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 250 260 270 280 290 300 VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 310 320 330 340 350 360 MALWGAHRLY SLRNSPTSVF PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 370 380 390 400 410 420 LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 430 440 450 460 470 480 SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 490 500 510 520 530 540 EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 550 560 570 580 590 600 PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 610 620 630 640 650 660 SYTLPIASSI RLQAFDFLFL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 670 680 690 700 710 720 GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 730 740 750 760 770 780 VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 790 800 810 820 830 840 DKTKQREMVY CLEQGLIHRC ARQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 850 860 870 880 890 900 VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 910 920 930 940 950 960 RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKSLRIA RPPKQGLNNS 970 980 990 1000 1010 1020 PPVKEFKESS AAEAFRCRSI SVSEHVVRSR IQTSLTSASL GSADENSVAQ ADDSLKNLHL 1030 1040 1050 1060 1070 1080 ELTETCLDMM ARYVFSNFTA VPKRSPVGEF LLAGGRTKTW LVGNKLVTVT TSVGTGTRSL 1090 1100 1110 1120 1130 1140 LGLDSGELQS GPESSSSPGV HVRQTKEAPA KLESQAGQQV SRGARDRVRS MSGGHGLRVG 1150 1160 1170 1180 1190 1200 ALDVPASQFL GSATSPGPRT APAAKPEKAS AGTRVPVQEK TNLAAYVPLL TQGWAEILVR 1210 1220 1230 1240 1250 1260 RPTGNTSWLM SLENPLSPFS SDINNMPLQE LSNALMAAER FKEHRDTALY KSLSVPAAST 1270 1280 1290 1300 1310 1320 AKPPPLPRSN TDSAVVMEEG SPGEVPVLVE PPGLEDVEAA LGMDRRTDAY SRSSSVSSQE 1330 1340 1350 1360 1370 1380 EKSLHAEELV GRGIPIERVV SSEGGRPSVD LSFQPSQPLS KSSSSPELQT LQDILGDPGD 1390 1400 1410 1420 1430 1440 KADVGRLSPE VKARSQSGTL DGESAAWSAS GEDSRGQPEG PLPSSSPRSP SGLRPRGYTI 1450 1460 1470 1480 1490 1500 SDSAPSRRGK RVERDALKSR ATASNAEKVP GINPSFVFLQ LYHSPFFGDE SNKPILLPNE 1510 1520 1530 1540 1550 1560 SQSFERSVQL LDQIPSYDTH KIAVLYVGEG QSNSELAILS NEHGSYRYTE FLTGLGRLIE 1570 1580 1590 1600 1610 1620 LKDCQPDKVY LGGLDVCGED GQFTYCWHDD IMQAVFHIAT LMPTKDVDKH RCDKKRHLGN 1630 1640 1650 1660 1670 1680 DFVSIVYNDS GEDFKLGTIK GQFNFVHVIV TPLDYECNLV SLQCRKDMEG LVDTSVAKIV 1690 1700 1710 1720 1730 1740 SDRNLPFVAR QMALHANMAS QVHHSRSNPT DIYPSKWIAR LRHIKRLRQR ICEEAAYSNP 1750 1760 1770 1780 SLPLVHPPSH SKAPAQTPAE PTPGYEVGQR KRLISSVEDF TEFV

References

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[2]	Sampson J.R. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues." Xu L., Sterner C., Maheshwar M.M., Wilson P.J., Nellist M., Short M.P., Haines J.L., Sampson J.R., Ramesh V. Genomics 27:475-480(1995) [PubMed: 7558029] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
[4]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 4).
[5]	"Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes." Imai K., Sarker A.H., Akiyama K., Ikeda S., Yao M., Tsutsui K., Shohmori T., Seki S. Gene 222:287-295(1998) [PubMed: 9831664] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-199. Tissue: Placenta.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1005-1807 (ISOFORM 4). Tissue: Lymph.
[7]	"The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis." Xiao G.-H., Shoarinejad F., Jin F., Golemis E.A., Yeung R.S. J. Biol. Chem. 272:6097-6100(1997) [PubMed: 9045618] [Abstract] Cited for: INTERACTION WITH RABEP1.
[8]	"Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products." van Slegtenhorst M.A., Nellist M., Nagelkerken B., Cheadle J.P., Snell R.G., van den Ouweland A.M.W., Reuser A., Sampson J.R., Halley D.J.J., van der Sluijs P. Hum. Mol. Genet. 7:1053-1057(1998) [PubMed: 9580671] [Abstract] Cited for: INTERACTION WITH TSC1.
[9]	"Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin." Nellist M., van Slegtenhorst M.A., Goedbloed M., van den Ouweland A.M.W., Halley D.J.J., van der Sluijs P. J. Biol. Chem. 274:35647-35652(1999) [PubMed: 10585443] [Abstract] Cited for: INTERACTION WITH TSC1.
[10]	"Phosphorylation and binding partner analysis of the TSC1-TSC2 complex." Nellist M., Burgers P.C., van den Ouweland A.M.W., Halley D.J.J., Luider T.M. Biochem. Biophys. Res. Commun. 333:818-826(2005) [PubMed: 15963462] [Abstract] Cited for: PHOSPHORYLATION AT SER-1387; SER-1418 AND SER-1420, MASS SPECTROMETRY, INTERACTION WITH HSPA1; HSPA8 AND TSC1, CHARACTERIZATION OF VARIANTS TSC TRP-611 AND GLN-611.
[11]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1411 AND SER-1798, MASS SPECTROMETRY. Tissue: Epithelium.
[12]	"TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase." Chong-Kopera H., Inoki K., Li Y., Zhu T., Garcia-Gonzalo F.R., Rosa J.L., Guan K.-L. J. Biol. Chem. 281:8313-8316(2006) [PubMed: 16464865] [Abstract] Cited for: INTERACTION WITH HERC1 AND TSC1.
[13]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1097 AND SER-1155, MASS SPECTROMETRY.
[14]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1155 AND SER-1411, MASS SPECTROMETRY.
[15]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-927; SER-981; SER-1132; SER-1155; SER-1334; SER-1337; SER-1338; SER-1341; SER-1411; SER-1420; SER-1449 AND SER-1452, MASS SPECTROMETRY.
[16]	"Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients." Wilson P.J., Ramesh V., Kristiansen A., Bove C., Jozwiak S., Kwiatkowski D.J., Short M.P., Haines J.L. Hum. Mol. Genet. 5:249-256(1996) [PubMed: 8824881] [Abstract] Cited for: VARIANTS TSC ILE-449; TRP-611; LEU-1227; TRP-1240; PHE-1509 DEL AND GLU-1712.
[17]	"The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis." Maheshwar M.M., Cheadle J.P., Jones A.C., Myring J., Fryer A.E., Harris P.C., Sampson J.R. Hum. Mol. Genet. 6:1991-1996(1997) [PubMed: 9302281] [Abstract] Cited for: VARIANTS TSC PHE-1509 DEL; MET-1594; LYS-1643; SER-1651; LEU-1675 AND LYS-1681.
[18]	"Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients." Au K.-S., Rodriguez J.A., Finch J.L., Volcik K.A., Roach E.S., Delgado M.R., Rodriguez E. Jr., Northrup H. Am. J. Hum. Genet. 62:286-294(1998) [PubMed: 9463313] [Abstract] Cited for: VARIANTS TSC.
[19]	"Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis." Beauchamp R.L., Banwell A., McNamara P., Jacobsen M., Higgins E., Northrup H., Short M.P., Sims K., Ozelius L., Ramesh V. Hum. Mutat. 12:408-416(1998) [PubMed: 9829910] [Abstract] Cited for: VARIANTS TSC.
[20]	"Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene." Gilbert J.R., Guy V., Kumar A., Wolpert C., Kandt R., Aylesworth A., Roses A.D., Pericak-Vance M.A. Neurogenetics 1:267-272(1998) [PubMed: 10732801] [Abstract] Cited for: VARIANTS TSC.
[21]	"Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis." Jones A.C., Shyamsundar M.M., Thomas M.W., Maynard J., Idziaszczyk S.A., Tomkins S., Sampson J.R., Cheadle J.P. Am. J. Hum. Genet. 64:1305-1315(1999) [PubMed: 10205261] [Abstract] Cited for: VARIANTS TSC, VARIANTS.
[22]	"Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst." Zhang H., Yamamoto T., Nanba E., Kitamura Y., Terada T., Akaboshi S., Yuasa I., Ohtani K., Nakamoto S., Takeshita K., Ohno K. Am. J. Med. Genet. 82:368-370(1999) [PubMed: 10069705] [Abstract] Cited for: VARIANT TSC ARG-717.
[23]	"Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2." Choy Y.S., Dabora S.L., Hall F., Ramesh V., Niida Y., Franz D., Kasprzyk-Obara J., Reeve M.P., Kwiatkowski D.J. Ann. Hum. Genet. 63:383-391(1999) [PubMed: 10735580] [Abstract] Cited for: VARIANTS TSC, VARIANTS.
[24]	"Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis." Niida Y., Lawrence-Smith N., Banwell A., Hammer E., Lewis J., Beauchamp R.L., Sims K., Ramesh V., Ozelius L. Hum. Mutat. 14:412-422(1999) [PubMed: 10533067] [Abstract] Cited for: VARIANTS TSC, VARIANTS. Tissue: Blood and Lymphoblast.
[25]	"Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex." Zhang H., Nanba E., Yamamoto T., Ninomiya H., Ohno K., Mizuguchi M., Takeshita K. J. Hum. Genet. 44:391-396(1999) [PubMed: 10570911] [Abstract] Cited for: VARIANTS TSC ARG-137; LEU-320; GLN-611; ASN-647; ARG-717; GLU-769; MET-963 AND LEU-1675.
[26]	"Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations." Yamashita Y., Ono J., Okada S., Wataya-Kaneda M., Yoshikawa K., Nishizawa M., Hirayama Y., Kobayashi E., Seyama K., Hino O. Am. J. Med. Genet. 90:123-126(2000) [PubMed: 10607950] [Abstract] Cited for: VARIANTS TSC TRP-611; TRP-905; PRO-1744 AND 1746-HIS--ARG-1751 DEL, VARIANT LEU-320. Tissue: Peripheral blood leukocyte.
[27]	"Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis." Carsillo T., Astrinidis A., Henske E.P. Proc. Natl. Acad. Sci. U.S.A. 97:6085-6090(2000) [PubMed: 10823953] [Abstract] Cited for: VARIANT LAM GLN-611.
[28]	"Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation." Feng J.-H., Yamamoto T., Nanba E., Ninomiya H., Oka A., Ohno K. Hum. Mutat. 23:397-397(2004) [PubMed: 15024740] [Abstract] Cited for: VARIANTS TSC SER-1651; PHE-1653; LEU-1675 AND 1746-HIS--ARG-1751 DEL, VARIANTS THR-607; VAL-862; SER-1429 AND ARG-1450.
[29]	"Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex." Ali M., Girimaji S.C., Markandaya M., Shukla A.K., Sacchidanand S., Kumar A. Acta Neurol. Scand. 111:54-63(2005) [PubMed: 15595939] [Abstract] Cited for: VARIANTS TSC GLN-611; TRP-611 AND PRO-1027, VARIANTS GLN-367; ARG-1341; ASN-1636 AND LEU-1673.
+	Additional computationally mapped references.

Web resources

Cardiff-Rotterdam TS Database

TSC2 mutation db

TSC variation database

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	X75621 mRNA. Translation: CAA53287.1. L48546 , L48517, L48518, L48519, L48521, L48522, L48523, L48524, L48525, L48526, L48527, L48528, L48529, L48530, L48531, L48532, L48533, L48534, L48535, L48536, L48537, L48538, L48539, L48540, L48541, L48542, L48543, L48544, L48545 Genomic DNA. Translation: AAB41564.1. AC005600 Genomic DNA. Translation: AAC34210.1. AB014460 Genomic DNA. Translation: BAA32694.1. BC025364 mRNA. Translation: AAH25364.1. BC046929 mRNA. Translation: AAH46929.1.
IPI	IPI00028493. IPI00218881. IPI00218882. IPI00218883.
PIR	A49420.
UniGene	Hs.66196 Hs.90303
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P49815. 6 interactions.
PTM databases
PhosphoSite	P49815.
Proteomic databases
PRIDE	P49815.
Genome annotation databases
Ensembl	ENSG00000103197. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC16P002038.
H-InvDB	HIX0012712.
HGNC	HGNC:12363. TSC2.
HPA	CAB002225.
MIM	191092. gene. 191100. phenotype. 606690. phenotype.
Orphanet	538. Lymphangioleiomyomatosis. 88924. Polycystic kidney disease, autosomal dominant, type 1, with tuberous sclerosis. 805. Tuberous sclerosis.
PharmGKB	PA32846.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P49815.
HOVERGEN	P49815.
Enzyme and pathway databases
Pathway_Interaction_DB	pi3kciaktpathway. Class I PI3K signaling events mediated by Akt. mtor_4pathway. mTOR signaling pathway. p38_mk2pathway. p38 signaling mediated by MAPKAP kinases.
Reactome	REACT_11061. Signalling by NGF. REACT_498. Signaling by Insulin receptor.
Gene expression databases
Bgee	P49815.
CleanEx	HS_TSC2.
GermOnline	ENSG00000103197. Homo sapiens.
Family and domain databases
InterPro	IPR000331. Rap_GAP. IPR003913. Tuberin. IPR018515. Tuberin-type_domain. [Graphical view]
Pfam	PF02145. Rap_GAP. 1 hit. PF03542. Tuberin. 1 hit. [Graphical view]
PRINTS	PR01431. TUBERIN.
PROSITE	PS50085. RAPGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

TSC2_HUMAN

Accession

Primary (citable) accession number: P49815
Secondary accession number(s): O75275, Q8TAZ1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	June 16, 2009
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)