Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA.
| RefSeq Version | NM_013995.2, 169790831 |
| Length | 4076 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA. |
| Product | lysosome-associated membrane glycoprotein 2 isoform B precursor |
| Comment | Summary: The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq]. Transcript Variant: This variant (B) results from alternative splicing of exon 9 and results in a shorter transcript, but not protein, as compared to variant A. Transcript variant B is over-expressed in muscle and encodes isoform B. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. |
| RefSeq | NP_054701.1 |
| CDS | 181..1413 | Exon (1) | 1..244 | Exon (2) | 1..244 | Exon (3) | 245..363 | Exon (4) | 364..577 | Exon (5) | 578..736 | Exon (6) | 737..921 | Exon (7) | 922..1044 | Exon (8) | 1045..1108 | Exon (9) | 1109..1273 | Exon (10) | 1274..4073 |
| Translation | MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKT
YKTVTISDHGTVTYNGSICGDDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNT
GDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLEKNDVVQHYWDVLVQAFVQNG
TVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVN
ISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQG
KYSTAQECSLDDDTILIPIIVGAGLSGLIIVIVIAYVIGRRKSYAGYQTL
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| Position | Chain | Variation | Link |
| 210 | + | a, g | dbSNP:11540224 |
| 212 | + | c, g | dbSNP:3180515 |
| complement(217) | - | c, a | dbSNP:12853266 |
| 336 | + | a, t | dbSNP:12097 |
| complement(383) | - | t, c | dbSNP:113529754 |
| 620 | + | a, t | dbSNP:137852527 |
| 700 | + | c, t | dbSNP:104894857 |
| complement(810) | - | t, c | dbSNP:112341751 |
| complement(953) | - | g, a | dbSNP:111703410 |
| complement(1107) | - | g, a | dbSNP:73219144 |
| 1108 | + | a, g | dbSNP:104894858 |
| 1141 | + | c, t | dbSNP:104894859 |
| complement(1836) | - | c, a | dbSNP:45622238 |
| complement(1836) | - | , ca | dbSNP:60325643 |
| complement(1837) | - | c, a | dbSNP:113842465 |
| complement(1838) | - | c, a | dbSNP:112371042 |
| complement(1841..1842) | - | , caca | dbSNP:71954345 |
| complement(1862..1863) | - | , ac | dbSNP:72241311 |
| complement(1863..1864) | - | , ca | dbSNP:72093351 |
| complement(1873..1874) | - | , caca | dbSNP:72095144 |
| complement(1873..1874) | - | , ca | dbSNP:67522937 |
| complement(1886) | - | g, a | dbSNP:12850824 |
| complement(1887) | - | t, c | dbSNP:12862637 |
| complement(2102) | - | t, a | dbSNP:12852798 |
| complement(2430) | - | g, a | dbSNP:41310450 |
| complement(2868) | - | t, c | dbSNP:5957387 |
| complement(2881) | - | t, c | dbSNP:42889 |
| complement(3118) | - | t, a | dbSNP:5957386 |
| complement(3141) | - | , a, aaa | dbSNP:71647314 |
| complement(3145) | - | , aa | dbSNP:10565432 |
| complement(3148) | - | c, a | dbSNP:112195778 |
| complement(3149) | - | c, a | dbSNP:113361775 |
| complement(3154) | - | , aaa | dbSNP:72458986 |
| complement(3159) | - | c, a | dbSNP:12853078 |
| complement(3185) | - | g, c | dbSNP:112151652 |
| complement(3249..3250) | - | , at | dbSNP:71870272 |
| complement(3250..3251) | - | , at | dbSNP:113932840 |
| complement(3257..3258) | - | , at | dbSNP:71683873 |
| complement(3263..3264) | - | , at | dbSNP:66827020 |
| complement(3330) | - | c, a | dbSNP:16995851 |
| 3349 | + | c, t | dbSNP:14410 |
| complement(3364) | - | g, a | dbSNP:5957385 |
| complement(3848) | - | t, a | dbSNP:11540225 |
| 3987 | + | a, t | dbSNP:1802861 |
| Gene Symbol | LAMP2 |
| Gene Synonym | CD107b; LAMPB; LGP110 |
| Chromosome | X |
| Locus Map | Xq24 |
| All Transcripts | NM_013995 , NM_002294 , NM_001122606 |
| Title | LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens . |
| Author | Crotzer,V.L., Glosson,N., Zhou,D., Nishino,I. and Blum,J.S. |
| Journal | Immunology 131 (3), 318-330 (2010) |
| Title | Profound left ventricular remodeling associated with LAMP2 cardiomyopathy . |
| Author | Maron,B.J., Roberts,W.C., Ho,C.Y., Kitner,C., Haas,T.S., Wright,G.B., Moazami,N. and Feldman,D.S. |
| Journal | Am. J. Cardiol. 106 (8), 1194-1196 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Distribution of lysosome-associated membrane proteins-1 and -2, and cathepsin D in eosinophilic granular bodies: possible relationship to cyst development in pilocytic astrocytomas . |
| Author | Tung,J.N., Tsao,T.Y., Tai,C.J., Yeh,K.T., Cheng,Y.W. and Jiang,M.C. |
| Journal | J. Int. Med. Res. 38 (4), 1354-1364 (2010) |
| Title | A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease . |
| Author | Kim,H., Cho,A., Lim,B.C., Kim,M.J., Kim,K.J., Nishino,I., Hwang,Y.S. and Chae,J.H. |
| Journal | Muscle Nerve 41 (6), 879-882 (2010) |
| Title | Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2 . |
| Author | Eskelinen,E.L., Cuervo,A.M., Taylor,M.R., Nishino,I., Blum,J.S., Dice,J.F., Sandoval,I.V., Lippincott-Schwartz,J., August,J.T. and Saftig,P. |
| Journal | Traffic 6 (11), 1058-1061 (2005) |
| Title | Isolation of dense granules from human platelets . |
| Author | Fukami,M.H. |
| Journal | Meth. Enzymol. 215, 36-42 (1992) |
| Title | Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease . |
| Author | Schleutker,J., Haataja,L., Renlund,M., Puhakka,L., Viitala,J., Peltonen,L. and Aula,P. |
| Journal | Hum. Genet. 88 (1), 95-97 (1991) |
| Title | The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein lamp2 and assigns the gene to Xq24 . |
| Author | Manoni,M., Tribioli,C., Lazzari,B., DeBellis,G., Patrosso,C., Pergolizzi,R., Pellegrini,M., Maestrini,E., Rivella,S., Vezzoni,P. et al. |
| Journal | Genomics 9 (3), 551-554 (1991) |
| Title | The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones . |
| Author | Carlsson,S.R. and Fukuda,M. |
| Journal | J. Biol. Chem. 265 (33), 20488-20495 (1990) |
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