LOCUS       NM_006432                821 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NPC intracellular cholesterol transporter 2 (NPC2),
            transcript variant 2, mRNA.
ACCESSION   NM_006432
VERSION     NM_006432.5
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 821)
  AUTHORS   Zheng,G., Zeng,G. and Wei,D.
  TITLE     The role of NPC2 gene in glioma was investigated based on
            bioinformatics analysis
  JOURNAL   Sci Rep 14 (1), 19134 (2024)
   PUBMED   39160329
  REMARK    GeneRIF: The role of NPC2 gene in glioma was investigated based on
            bioinformatics analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 821)
  AUTHORS   de Araujo,L.S., Ribeiro-Alves,M., Wipperman,M.F., Vorkas,C.K.,
            Pessler,F. and Saad,M.H.F.
  TITLE     Transcriptomic Biomarkers for Tuberculosis: Validation of NPC2 as a
            Single mRNA Biomarker to Diagnose TB, Predict Disease Progression,
            and Monitor Treatment Response
  JOURNAL   Cells 10 (10), 2704 (2021)
   PUBMED   34685683
  REMARK    GeneRIF: Transcriptomic Biomarkers for Tuberculosis: Validation of
            NPC2 as a Single mRNA Biomarker to Diagnose TB, Predict Disease
            Progression, and Monitor Treatment Response.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 821)
  AUTHORS   Suk,F.M., Wang,Y.H., Chiu,W.C., Liu,C.F., Wu,C.Y., Chen,T.L. and
            Liao,Y.J.
  TITLE     Secretory NPC2 Protein-Mediated Free Cholesterol Levels Were
            Correlated with the Sorafenib Response in Hepatocellular Carcinoma
  JOURNAL   Int J Mol Sci 22 (16), 8567 (2021)
   PUBMED   34445279
  REMARK    GeneRIF: Secretory NPC2 Protein-Mediated Free Cholesterol Levels
            Were Correlated with the Sorafenib Response in Hepatocellular
            Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 821)
  AUTHORS   Sorrentino,F., Arighi,A., Serpente,M., Arosio,B., Arcaro,M.,
            Visconte,C., Rotondo,E., Vimercati,R., Ferri,E., Fumagalli,G.G.,
            Pietroboni,A.M., Carandini,T., Scarpini,E., Fenoglio,C. and
            Galimberti,D.
  TITLE     Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented
            Patients with Evidence of Brain Amyloid Deposition
  JOURNAL   J Alzheimers Dis 83 (3), 1313-1323 (2021)
   PUBMED   34420959
  REMARK    GeneRIF: Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in
            Demented Patients with Evidence of Brain Amyloid Deposition.
REFERENCE   5  (bases 1 to 821)
  AUTHORS   Higgins,M.E., Davies,J.P., Chen,F.W. and Ioannou,Y.A.
  TITLE     Niemann-Pick C1 is a late endosome-resident protein that
            transiently associates with lysosomes and the trans-Golgi network
  JOURNAL   Mol Genet Metab 68 (1), 1-13 (1999)
   PUBMED   10479477
REFERENCE   6  (bases 1 to 821)
  AUTHORS   Kirchhoff,C., Osterhoff,C. and Young,L.
  TITLE     Molecular cloning and characterization of HE1, a major secretory
            protein of the human epididymis
  JOURNAL   Biol Reprod 54 (4), 847-856 (1996)
   PUBMED   8924505
REFERENCE   7  (bases 1 to 821)
  AUTHORS   Krull,N., Ivell,R., Osterhoff,C. and Kirchhoff,C.
  TITLE     Region-specific variation of gene expression in the human
            epididymis as revealed by in situ hybridization with
            tissue-specific cDNAs
  JOURNAL   Mol Reprod Dev 34 (1), 16-24 (1993)
   PUBMED   8418812
REFERENCE   8  (bases 1 to 821)
  AUTHORS   Patterson,M.
  TITLE     Niemann-Pick Disease Type C
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301473
REFERENCE   9  (bases 1 to 821)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 821)
  AUTHORS   Kirchhoff,C., Osterhoff,C., Habben,I. and Ivell,R.
  TITLE     Cloning and analysis of mRNAs expressed specifically in the human
            epididymis
  JOURNAL   Int J Androl 13 (2), 155-167 (1990)
   PUBMED   1693137
  REMARK    Erratum:[Int J Androl 1990 Aug;13(4):327. Kirchloff C [corrected to
            Kirchhoff C]]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from GQ891387.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 25, 2019 this sequence version replaced NM_006432.4.
            
            Summary: This gene encodes a protein containing a lipid recognition
            domain. The encoded protein may function in regulating the
            transport of cholesterol through the late endosomal/lysosomal
            system. Mutations in this gene have been associated with
            Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided
            by RefSeq, Jul 2008].
            
            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 :: GQ891387.1, AL541495.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000555619.6/ ENSP00000451112.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-821               GQ891387.1         77-897
FEATURES             Location/Qualifiers
     source          1..821
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..821
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /note="NPC intracellular cholesterol transporter 2"
                     /db_xref="GeneID:10577"
                     /db_xref="HGNC:HGNC:14537"
                     /db_xref="MIM:601015"
     exon            1..113
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..487
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; epididymal protein 1; tissue-specific secretory
                     protein; human epididymis-specific protein 1; epididymis
                     secretory sperm binding protein; Niemann-Pick disease type
                     C2 protein"
                     /codon_start=1
                     /product="NPC intracellular cholesterol transporter 2
                     isoform 2 precursor"
                     /protein_id="NP_006423.1"
                     /db_xref="CCDS:CCDS32121.1"
                     /db_xref="GeneID:10577"
                     /db_xref="HGNC:HGNC:14537"
                     /db_xref="MIM:601015"
                     /translation="MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPT
                     QPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQ
                     KDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL"
     exon            114..221
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /inference="alignment:Splign:2.1.0"
     exon            222..394
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /inference="alignment:Splign:2.1.0"
     exon            395..472
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /inference="alignment:Splign:2.1.0"
     exon            473..821
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      697..702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /note="hexamer: ATTAAA"
     polyA_site      720
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
     regulatory      792..797
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /note="hexamer: AATAAA"
     polyA_site      821
                     /gene="NPC2"
                     /gene_synonym="EDDM1; HE1"
                     /note="major polyA site"
ORIGIN      
        1 ctttcccgag cttggaactt cgttatccgc gatgcgtttc ctggcagcta cattcctgct
       61 cctggcgctc agcaccgctg cccaggccga accggtgcag ttcaaggact gcggttctgt
      121 ggatggagtt ataaaggaag tgaatgtgag cccatgcccc acccaaccct gccagctgag
      181 caaaggacag tcttacagcg tcaatgtcac cttcaccagc aatattcagt ctaaaagcag
      241 caaggccgtg gtgcatggca tcctgatggg cgtcccagtt ccctttccca ttcctgagcc
      301 tgatggttgt aagagtggaa ttaactgccc tatccaaaaa gacaagacct atagctacct
      361 gaataaacta ccagtgaaaa gcgaatatcc ctctataaaa ctggtggtgg agtggcaact
      421 tcaggatgac aaaaaccaaa gtctcttctg ctgggaaatc ccagtacaga tcgtttctca
      481 tctctaagtg cctcattgag ttcggtgcat ctggccaatg agtctgctga gactcttgac
      541 agcacctcca gctctgctgc ttcaacaaca gtgacttgct ctccaatggt atccagtgat
      601 tcgttgaaga ggaggtgctc tgtagcagaa actgagctcc gggtggctgg ttctcagtgg
      661 ttgtctcatg tctctttttc tgtcttaggt ggtttcatta aatgcagcac ttggttagca
      721 gatgtttaat ttttttttta acaacattaa cttgtggcct ctttctacac ctggaaattt
      781 actcttgaat aaataaaaac tcgtttgtct tgtcttctgc a
//
