LOCUS       NM_002294               6535 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens lysosomal associated membrane protein 2 (LAMP2),
            transcript variant A, mRNA.
ACCESSION   NM_002294
VERSION     NM_002294.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6535)
  AUTHORS   Shi,Z., Yang,S., Shen,C., Shao,J., Zhou,F., Liu,H. and Zhou,G.
  TITLE     LAMP2A regulates cisplatin resistance in colorectal cancer through
            mediating autophagy
  JOURNAL   J Cancer Res Clin Oncol 150 (5), 242 (2024)
   PUBMED   38717639
  REMARK    GeneRIF: LAMP2A regulates cisplatin resistance in colorectal cancer
            through mediating autophagy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6535)
  AUTHORS   Yamaguchi,F., Sakane,H. and Akasaki,K.
  TITLE     Comparative study of the steady-state subcellular distribution of
            lysosome-associated membrane glycoprotein-2 (LAMP-2) isoforms with
            GYXXPhi-type tyrosine-based motifs that interact differently with
            four adaptor protein (AP) complexes
  JOURNAL   J Biochem 175 (3), 275-287 (2024)
   PUBMED   37983719
  REMARK    GeneRIF: Comparative study of the steady-state subcellular
            distribution of lysosome-associated membrane glycoprotein-2
            (LAMP-2) isoforms with GYXXPhi-type tyrosine-based motifs that
            interact differently with four adaptor protein (AP) complexes.
REFERENCE   3  (bases 1 to 6535)
  AUTHORS   Stavusis,J., Micule,I., Grinfelde,I., Zdanovica,A., Pudulis,J.,
            Valeina,S., Sepetiene,S., Lace,B. and Inashkina,I.
  TITLE     Altered Splicing of LAMP2 in a Multigenerational Family from Latvia
            Affected by Danon Disease
  JOURNAL   Medicina (Kaunas) 60 (1), 99 (2024)
   PUBMED   38256360
  REMARK    GeneRIF: Altered Splicing of LAMP2 in a Multigenerational Family
            from Latvia Affected by Danon Disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6535)
  AUTHORS   Shalata,A., Bar-Shai,M., Hadid,Y., Mahroum,M., Mintz,H.,
            Shalata,Z.E., Radzishevsky,E., Genizi,J., Lorber,A., Ben-Yosef,T.
            and Yaniv,L.
  TITLE     Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical
            Presentation-Case Report and Review of the Literature
  JOURNAL   Genes (Basel) 14 (8), 1539 (2023)
   PUBMED   37628591
  REMARK    GeneRIF: Danon Disease: Entire LAMP2 Gene Deletion with Unusual
            Clinical Presentation-Case Report and Review of the Literature.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6535)
  AUTHORS   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.
  TITLE     Unifying nomenclature for the isoforms of the lysosomal membrane
            protein LAMP-2
  JOURNAL   Traffic 6 (11), 1058-1061 (2005)
   PUBMED   16190986
REFERENCE   6  (bases 1 to 6535)
  AUTHORS   Taylor,M.R.G. and Adler,E.D.
  TITLE     Danon Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32134616
REFERENCE   7  (bases 1 to 6535)
  AUTHORS   Fukami,M.H.
  TITLE     Isolation of dense granules from human platelets
  JOURNAL   Methods Enzymol 215, 36-42 (1992)
   PUBMED   1435334
REFERENCE   8  (bases 1 to 6535)
  AUTHORS   Schleutker,J., Haataja,L., Renlund,M., Puhakka,L., Viitala,J.,
            Peltonen,L. and Aula,P.
  TITLE     Confirmation of the chromosomal localization of human lamp genes
            and their exclusion as candidate genes for Salla disease
  JOURNAL   Hum Genet 88 (1), 95-97 (1991)
   PUBMED   1959930
REFERENCE   9  (bases 1 to 6535)
  AUTHORS   Manoni,M., Tribioli,C., Lazzari,B., DeBellis,G., Patrosso,C.,
            Pergolizzi,R., Pellegrini,M., Maestrini,E., Rivella,S., Vezzoni,P.
            et al.
  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
  JOURNAL   Genomics 9 (3), 551-554 (1991)
   PUBMED   2032724
REFERENCE   10 (bases 1 to 6535)
  AUTHORS   Carlsson,S.R. and Fukuda,M.
  TITLE     The polylactosaminoglycans of human lysosomal membrane
            glycoproteins lamp-1 and lamp-2. Localization on the peptide
            backbones
  JOURNAL   J Biol Chem 265 (33), 20488-20495 (1990)
   PUBMED   2243102
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X77196.1, AC002476.1 and
            BC040653.2.
            
            On Aug 31, 2019 this sequence version replaced NM_002294.2.
            
            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, Jul 2008].
            
            Transcript Variant: This variant (A) is the longest and predominant
            form of this gene. Variant A encodes isoform A.
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.32243.1,
                                           SRR14038192.101960.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000200639.9/ ENSP00000200639.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1757              X77196.1           11-1767
            1758-5939           AC002476.1         582-4763            c
            5940-6535           BC040653.2         1523-2118
FEATURES             Location/Qualifiers
     source          1..6535
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..6535
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="lysosomal associated membrane protein 2"
                     /db_xref="GeneID:3920"
                     /db_xref="HGNC:HGNC:6501"
                     /db_xref="MIM:309060"
     exon            1..191
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1360
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="isoform A precursor is encoded by transcript
                     variant A; lysosome-associated membrane glycoprotein 2;
                     CD107 antigen-like family member B"
                     /codon_start=1
                     /product="lysosome-associated membrane glycoprotein 2
                     isoform A precursor"
                     /protein_id="NP_002285.1"
                     /db_xref="CCDS:CCDS14599.1"
                     /db_xref="GeneID:3920"
                     /db_xref="HGNC:HGNC:6501"
                     /db_xref="MIM:309060"
                     /translation="MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYA
                     KWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICGDDQNGPKIAVQFGPGFSWIANF
                     TKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLE
                     KNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKP
                     EAGTYSVNNGNDTCLLATMGLQLNITQDKVASVININPNTTHSTGSCRSHTALLRLNS
                     STIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKE
                     QTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILV
                     LLAYFIGLKHHHAGYEQF"
     exon            192..310
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            311..524
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            525..683
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            684..868
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            869..991
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1055
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1220
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..6535
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1693..1698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="hexamer: AATAAA"
     polyA_site      1743
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="major polyA site"
     regulatory      6511..6516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="hexamer: AATAAA"
     polyA_site      6535
                     /gene="LAMP2"
                     /gene_synonym="CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110"
                     /note="major polyA site"
ORIGIN      
        1 gcttttgcaa ggctgtggtc ggtggtcatc agtgctcttg acccaggtcc agcgagcctt
       61 ttccctggtg ttgcagctgt tgttgtaccg ccgccgtcgc cgccgtcgcc gcctgctctg
      121 cggggtcatg gtgtgcttcc gcctcttccc ggttccgggc tcagggctcg ttctggtctg
      181 cctagtcctg ggagctgtgc ggtcttatgc attggaactt aatttgacag attcagaaaa
      241 tgccacttgc ctttatgcaa aatggcagat gaatttcaca gtacgctatg aaactacaaa
      301 taaaacttat aaaactgtaa ccatttcaga ccatggcact gtgacatata atggaagcat
      361 ttgtggggat gatcagaatg gtcccaaaat agcagtgcag ttcggacctg gcttttcctg
      421 gattgcgaat tttaccaagg cagcatctac ttattcaatt gacagcgtct cattttccta
      481 caacactggt gataacacaa catttcctga tgctgaagat aaaggaattc ttactgttga
      541 tgaacttttg gccatcagaa ttccattgaa tgaccttttt agatgcaata gtttatcaac
      601 tttggaaaag aatgatgttg tccaacacta ctgggatgtt cttgtacaag cttttgtcca
      661 aaatggcaca gtgagcacaa atgagttcct gtgtgataaa gacaaaactt caacagtggc
      721 acccaccata cacaccactg tgccatctcc tactacaaca cctactccaa aggaaaaacc
      781 agaagctgga acctattcag ttaataatgg caatgatact tgtctgctgg ctaccatggg
      841 gctgcagctg aacatcactc aggataaggt tgcttcagtt attaacatca accccaatac
      901 aactcactcc acaggcagct gccgttctca cactgctcta cttagactca atagcagcac
      961 cattaagtat ctagactttg tctttgctgt gaaaaatgaa aaccgatttt atctgaagga
     1021 agtgaacatc agcatgtatt tggttaatgg ctccgttttc agcattgcaa ataacaatct
     1081 cagctactgg gatgcccccc tgggaagttc ttatatgtgc aacaaagagc agactgtttc
     1141 agtgtctgga gcatttcaga taaatacctt tgatctaagg gttcagcctt tcaatgtgac
     1201 acaaggaaag tattctacag ctcaagactg cagtgcagat gacgacaact tccttgtgcc
     1261 catagcggtg ggagctgcct tggcaggagt acttattcta gtgttgctgg cttattttat
     1321 tggtctcaag caccatcatg ctggatatga gcaattttag aatctgcaac ctgattgatt
     1381 atataaaaat acatgcaaat aacaagattt tcttacctct cagttgttga aacactttgc
     1441 ttcttaaaat tgatatgttg aaactttaat tcttttatca atcccagcat tttgagatca
     1501 gtctttatta ataaaacctg ttctctttaa tcagcttaaa atccaaagtg tcatatttac
     1561 tggtcctgga gacaaacttg ttcaaaagaa catcaacgtg caatgtttta aggtctatct
     1621 taagaagccc tggccaaatt ttgatcctaa ccttgaagta tgccttgaac ttattaacat
     1681 ggccattata agaataaaat atgtagttgt gtcttaatgg aattaataaa tgtcatttca
     1741 ctactggtgt tctgtttcaa tgtataagga ctatagtgat ttaaactcat caatgtgcct
     1801 ttgcataaag ttcattaaat aaatattgat gtggtataaa tgcccatcag atatgcttaa
     1861 acttggtttt cagttgaatg aagtagagaa tgtcctcagg accatcagca ttttaaaggt
     1921 tatgtgactt ttgctgattt ctctgagttc aagttaagca tgaagttagt acctcaagcc
     1981 tgtgattttt ccctagggat gatacagacc caagaggcta caacagaact taaactggct
     2041 tcgtaattag agtttttaag ataattgttt gtttttcagc aatatagact gaaaagatcc
     2101 aagcatattt agccacttgc ttttttgttt cttgttttgt tcttctttgg atgcctgatt
     2161 agtattgaaa gatagaaata ttctatgaac taattaggac agattgtgtt gtgtttctct
     2221 acctcatctt gttgatctct ggagcattaa aatctattta gtgttgtcat cagtgtggta
     2281 cttatgaaat gtaagctaac agcaatctca gaagggaggc agtgaagcat agcaactagg
     2341 ctcttgtttc ttcaagatgg cccctgtggg gcagtgcata gatgggggtg taaagagaag
     2401 ctgttggcat taaaatgagc tagataatca gcccttgttg aagcatattc catggtataa
     2461 gagtagcaca gacatgaaac atagataaag aaggaaggct taatagacta gaagacttcc
     2521 acattgaagt attattaacc cattgtatgt atataggggc atgatcagag tctctataac
     2581 ttcctgatta acaatacagt gtatcttgtt acccagctgt cagtctttga gagctttcag
     2641 taaaatatag taaattcttt cagcataggc taatgtgtgg ttactgagat gagtgttgtg
     2701 tactcagaac cgtagcaaca tttttatgaa tggtaaaagt acaagaggag gaaaagttaa
     2761 aattagaaga aaagtacaag ttattgctta atcataaatc acaccagata acacattttg
     2821 ttaatttcat tagctattac tggaaaggac cttaacgatt atttacagaa aggggagtga
     2881 aattcattga ggttccatat caagtgggca acaaaactat tactagcatt ttgataaaaa
     2941 ttgcccctaa tgaaatctag tcactcaaca gtaaaacaac agctggttta cacttgaaat
     3001 tatgagatca gaattgggca ctttgggctt ccgtactatg ttttgcttaa gttttttttt
     3061 taatactaat atgggctttt tcagtagtaa tataccaaaa cacttctatt ttaatctctg
     3121 tttgctactt caaaacctaa tcctcctcag atgggatcat gagcataaga ggaaaagaga
     3181 agagaatgaa tacttgttga cctcttgatg tgtatcagat gctttagaaa tgtaattgta
     3241 tttaatcctc aaatacctta taggtattat tatccccttc ttacagatga ggaaagtgag
     3301 gcccagttta aataacttgc ccaaggtcct ttggctagta ctggaaggag tcaagattta
     3361 aacacagttc tgtctgaatc cagaactcaa aatctacatt gcacatgttg ctttcctggt
     3421 ggttcggtgg aatggactgc aacgcattag atactgctgt tattcttcca ggccaccgct
     3481 cagctaaaaa taattgtgtg tgtgtgtata tatatatata tgtacacaca cacacatata
     3541 tatacacaca cacatatata tacacatata catatatata cacatatata tacacacaca
     3601 tatatatgta tatatatact acattcttga tcctaagtct tttttaactt aaattttatt
     3661 acttatacag aattcttatt tatactttaa ttataggtgt gacgaagaga aagagagtag
     3721 ggaaatacac aggcagtggt tttaagtgta gatgatggct ccttaaccca gtgtcattag
     3781 ataatcaaac ctaaagtctt cccatattag gcaagcgcaa ttctctattt tggacccttc
     3841 ccattcttcc cttaccttct gcttttcgta ctgaggaatt tcgtgtgatt ttagataaag
     3901 tgataatgag atattgagca aataagaaaa tagaggtaat gctataaaaa actaagctat
     3961 gtacactttc aaaatgcatg tttcttgcat gctttttact acttaattgc attctttgct
     4021 aatttccttt ccttgctgtc tgttcttttc taacagctga agaatgttct gctgactctg
     4081 acctcaactt tcttattcct gttgcagtgg gtgtggcctt gggcttcctt ataattgttg
     4141 tctttatctc ttatatgatt ggaagaagga aaagtcgtac tggttatcag tctgtgtaat
     4201 cagttaaatc tagtgtttgt ttgttttttt caattagaag ttacgtttcc attggctaaa
     4261 agccaggaca tgctgtgcaa tagattgttt aagatatgca gactaacttc agtgagttcc
     4321 tagctaactt gggcatgagt acacttattt aagacaaaat atattaggac caattttttt
     4381 ctgttttttt tcttcctttg ttaaagtata attaaaagaa aaattgtggc ttagaatttt
     4441 ttaagtaaat aatgatttta agcccctgga tccaattatg aaagcatttt tgctgatgtg
     4501 taattttata tgttacagtt acttatattt tactactttg atgttatttg caaaatcaaa
     4561 ggtgttaaag aatttaactt gcttcaggaa ataaattcaa gaacatagtg gattcatttt
     4621 cattggtggc agacacgaaa tttggttcat gataagactt cctttcccca cctcctgatc
     4681 agcattattt aaatctgtat ttttctgtta gttaagaaag aaatggcttc atgatattgt
     4741 atttaatagc aaaagtttgg ctgtcttctt cattactgtt aatagctact atattttaac
     4801 aaggagattt ctttttttgt tgttgttgtt ctagagtttg gaatatactg attatctcag
     4861 acttgacatt tatactgaag gatgaagtaa gacctccagc tttttttaaa aaaggtgttg
     4921 atttggaaca cctgtatggg ttatggttta ttaaggttat ggtttagaaa gtttttttcc
     4981 ctcagagcct taacttgtta agaaggttca tttatcctgc actgaaaaca aaaactctat
     5041 atactttgtt tgtgtgcctc ctgcactctc ccattcccta tgtgaatatg ctctagttga
     5101 tatttttaat atattgattt cttttttctc acagcaacaa gtgcttactc tagaggttag
     5161 tgggccctga tatgtcatca gtcagatgcc tgcctagcca aagctggact aagattattc
     5221 tgtacatttg ttgatcttga tatagactta tatccctgta gggactgcta atggctccgg
     5281 cttctggagt aaggtactgg agaccactca tccctgtgtc tgcttgattg gttcagctgt
     5341 tgaattgccc ttttatttgg aagcagtgtt gaagttgtct agggttcaaa tggctgcttt
     5401 gtacacctgt cattagtata aggcagatgt ttattttatc aagctatttt atctctacat
     5461 ttaactaaaa acaaaagttc ccaaagatct gccttcactt cagaaatttt ttttggatta
     5521 aaaaaattaa gcctgaacct taaataaagt gagttggtta ttcattccaa ggattaagtc
     5581 ccaatctacc tctcagcaca atgcagaagc tcaccactgt attgctgcca ttaactcatg
     5641 ccagaaccct ttgccaataa ctggaattac aaatttttgt taaagaaaat ttatcaagat
     5701 ctttctttac tgccttctct atatgtacat ctcaaaaaca tgtacatctc aaaaactgga
     5761 gtagaaagtt agattgctca actacaactc ctctagaact ctatagctct gacatacaga
     5821 ttcacactct cctctatttg ctaagtatgt aaagaatgtt ttcttttaaa atgttctctt
     5881 ttgagaacaa ctgcttattt gttataaaag catttggtta aaatgatgtc atcataaaaa
     5941 acagtggctt tgtttcaata catatttttg agatgattat ctagaagcca gattaataaa
     6001 atcagcttgt gaccttgcta agcatataaa ctggaaattc agatacattc aaaattatgg
     6061 gttcatttaa aagtgttcta ccttttgggt atgagactaa tatcactaat tcctcaatag
     6121 ttatcatggc tctatcttaa ttaattagaa aatatgtgtg tttaattctt tgagaattaa
     6181 aatagagaat attaacagag ggttaaaaac tgcttcaact ccaataagat aaaggaagct
     6241 caaaatctat gagctgagtg ttcaattagc tttgcctact gagttcaatt ttatgtcaat
     6301 acaacagtgg atcagacagt acgactttga actggtgaat gtaaacaatt gtttttcacc
     6361 taagctgctt tggaagaact gatgcttgct gctaactaaa gttttggatg tatcgattta
     6421 gagaaccaat taatacctgc aaaataaagc atactgtggt acttctgttt gatctagtat
     6481 gtgtgatttt agattgatgg attaaaaatt aataaagatc atacattcca tacca
//
