LOCUS       NM_001363878            4034 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens oxysterol binding protein like 2 (OSBPL2), transcript
            variant 4, mRNA.
ACCESSION   NM_001363878 XM_017028167
VERSION     NM_001363878.2
KEYWORDS    RefSeq.
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 4034)
  AUTHORS   Wang,Y., Zhao,A., Zhou,N., Wang,X., Pan,C., Zhou,S., Huang,H.,
            Yang,Y., Yang,J., Yang,Y., Zhang,J., Chen,F., Cao,Q., Zhao,J.,
            Zhang,S., Li,M. and Li,M.
  TITLE     OSBPL2 compound heterozygous variants cause dyschromatosis,
            ichthyosis, deafness and atopic disease syndrome
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (5), 167207 (2024)
   PUBMED   38701954
  REMARK    GeneRIF: OSBPL2 compound heterozygous variants cause
            dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
REFERENCE   2  (bases 1 to 4034)
  AUTHORS   Weber-Boyvat,M., Kroll,J., Trimbuch,T., Olkkonen,V.M. and
            Rosenmund,C.
  TITLE     The lipid transporter ORP2 regulates synaptic neurotransmitter
            release via two distinct mechanisms
  JOURNAL   Cell Rep 41 (13), 111882 (2022)
   PUBMED   36577376
REFERENCE   3  (bases 1 to 4034)
  AUTHORS   Takahashi,K., Kanerva,K., Vanharanta,L., Almeida-Souza,L.,
            Lietha,D., Olkkonen,V.M. and Ikonen,E.
  TITLE     ORP2 couples LDL-cholesterol transport to FAK activation by
            endosomal cholesterol/PI(4,5)P2 exchange
  JOURNAL   EMBO J 40 (14), e106871 (2021)
   PUBMED   34124795
  REMARK    GeneRIF: ORP2 couples LDL-cholesterol transport to FAK activation
            by endosomal cholesterol/PI(4,5)P2 exchange.
REFERENCE   4  (bases 1 to 4034)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 4034)
  AUTHORS   Zheng,C., Zhang,Y., Zhao,Y., Duan,Y., Mu,Q. and Wang,X.
  TITLE     Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive
            Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis
  JOURNAL   Int J Chron Obstruct Pulmon Dis 16, 919-931 (2021)
   PUBMED   33854310
  REMARK    GeneRIF: Circ-OSBPL2 Contributes to Smoke-Related Chronic
            Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4034)
  AUTHORS   Laitinen,S., Lehto,M., Lehtonen,S., Hyvarinen,K., Heino,S.,
            Lehtonen,E., Ehnholm,C., Ikonen,E. and Olkkonen,V.M.
  TITLE     ORP2, a homolog of oxysterol binding protein, regulates cellular
            cholesterol metabolism
  JOURNAL   J Lipid Res 43 (2), 245-255 (2002)
   PUBMED   11861666
  REMARK    GeneRIF: ORP2 as a novel regulator of cellular sterol homeostasis
            and intracellular membrane trafficking.
REFERENCE   7  (bases 1 to 4034)
  AUTHORS   Jaworski,C.J., Moreira,E., Li,A., Lee,R. and Rodriguez,I.R.
  TITLE     A family of 12 human genes containing oxysterol-binding domains
  JOURNAL   Genomics 78 (3), 185-196 (2001)
   PUBMED   11735225
REFERENCE   8  (bases 1 to 4034)
  AUTHORS   Lehto,M., Laitinen,S., Chinetti,G., Johansson,M., Ehnholm,C.,
            Staels,B., Ikonen,E. and Olkkonen,V.M.
  TITLE     The OSBP-related protein family in humans
  JOURNAL   J Lipid Res 42 (8), 1203-1213 (2001)
   PUBMED   11483621
REFERENCE   9  (bases 1 to 4034)
  AUTHORS   Xu,Y., Liu,Y., Ridgway,N.D. and McMaster,C.R.
  TITLE     Novel members of the human oxysterol-binding protein family bind
            phospholipids and regulate vesicle transport
  JOURNAL   J Biol Chem 276 (21), 18407-18414 (2001)
   PUBMED   11279184
REFERENCE   10 (bases 1 to 4034)
  AUTHORS   Laitinen,S., Olkkonen,V.M., Ehnholm,C. and Ikonen,E.
  TITLE     Family of human oxysterol binding protein (OSBP) homologues. A
            novel member implicated in brain sterol metabolism
  JOURNAL   J Lipid Res 40 (12), 2204-2211 (1999)
   PUBMED   10588946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA913312.1, AL354836.13,
            AF392447.1 and BF507780.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001363878.1.
            
            Summary: This gene encodes a member of the oxysterol-binding
            protein (OSBP) family, a group of intracellular lipid receptors.
            Most members contain an N-terminal pleckstrin homology domain and a
            highly conserved C-terminal OSBP-like sterol-binding domain,
            although the encoded protein contains only the sterol-binding
            domain. In vitro studies have shown that the encoded protein can
            bind strongly to phosphatic acid and weakly to phosphatidylinositol
            3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein
            associates with the Golgi apparatus. Transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Sep
            2014].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: SRR14038195.2492359.1,
                                           SRR14038194.4093375.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-519               DA913312.1         1-519
            520-520             AL354836.13        29110-29110
            521-586             DA913312.1         521-586
            587-2960            AF392447.1         494-2867
            2961-3871           AL354836.13        59535-60445
            3872-4034           BF507780.1         48-210              c
FEATURES             Location/Qualifiers
     source          1..4034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..4034
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="oxysterol binding protein like 2"
                     /db_xref="GeneID:9885"
                     /db_xref="HGNC:HGNC:15761"
                     /db_xref="MIM:606731"
     exon            1..77
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            78..242
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            243..387
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            388..463
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            464..553
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            554..688
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             572..1738
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="isoform 4 is encoded by transcript variant 4;
                     oxysterol-binding protein-related protein 2; OSBP-related
                     protein 2"
                     /codon_start=1
                     /product="oxysterol-binding protein-related protein 2
                     isoform 4"
                     /protein_id="NP_001350807.1"
                     /db_xref="CCDS:CCDS86966.1"
                     /db_xref="GeneID:9885"
                     /db_xref="HGNC:HGNC:15761"
                     /db_xref="MIM:606731"
                     /translation="MPIAFNEPLSFLQRITEYMEHVYLIHRASCQPQPLERMQSVAAF
                     AVSAVASQWERTGKPFNPLLGETYELIREDLGFRFISEQVSHHPPISAFHSEGLNHDF
                     LFHGSIYPKLKFWGKSVEAEPRGTITLELLKHNEAYTWTNPTCCVHNVIIGKLWIEQY
                     GTVEILNHRTGHKCVLHFKPCGLFGKELHKVEGHIQDKNKKKLFMIYGKWTECLWGID
                     PVSYESFKKQERRGDHLRKAKLDEDSGKADSDVADDVPVAQETVQVIPGSKLLWRINT
                     RPPNSAQMYNFTSFTVSLNELETGMEKTLPPTDCRLRPDIRGMENGNMDLASQEKERL
                     EEKQREARRERAKEEAEWQTRWFYPGNNPYTGTPDWLYAGDYFERNFSDCPDIY"
     exon            689..786
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            787..969
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1077
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1167
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1291
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1420
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1544
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1635
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..4034
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2719..2724
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2740
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="major polyA site"
     regulatory      4013..4018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="hexamer: AATAAA"
     polyA_site      4034
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
ORIGIN      
        1 gtcagtgggt cgcgggccta cggggcgggg gcggggcggc agtgagctcg gccggcaacc
       61 gagggacccg cgtccagatc ttcagtgtct attggatttt tccaagagaa agtttgtaaa
      121 attccttaca ctgtagatgt ggatcagata cgatgattca gtagaagagc acatgtcagg
      181 ggcagtggag gctggctgct gaaggatgaa cggagaggaa gaattctttg atgccgtcac
      241 aggctttgat tctgataact cttctgggga attttcagag gcaaatcaga aagtcacggg
      301 aatgattgac ttagacacca gcaaaaataa taggattggg aaaactgggg agaggccctc
      361 tcaagagaac ggaattcaga aacacaggac atcgctgccg gctcccatgt tcagcagaag
      421 cgacttcagc gtgtggacca tcctgaagaa gtgtgttggc ctgacttacg gaaaatcaca
      481 aaatagcaca gagcattcct gtagacccac cacccagctc ccctgatgcc ggcatctctc
      541 ggaataacca taggagctgt ccaagatcac gatgccaatc gccttcaacg agcctctgag
      601 cttcttgcag cggatcacgg agtacatgga gcacgtgtac ctcatccaca gggcctcctg
      661 ccagccccag cccctggaga ggatgcagtc tgtggctgct tttgctgttt cggctgtggc
      721 ttcccagtgg gagaggaccg gcaaaccatt taatccactc ttgggagaaa cgtatgaatt
      781 aatcagggaa gatttaggat tcagatttat atcggaacag gtcagtcacc acccccccat
      841 cagtgcgttc cactcggaag gtctcaacca tgacttcctg ttccatggct ccatctaccc
      901 caagctcaag ttctggggca aaagcgtgga ggcggagccc cgaggcacca tcaccctgga
      961 gctgctcaaa cataatgaag cctacacctg gaccaacccc acctgctgcg tccacaacgt
     1021 catcatcggg aagctgtgga tagagcagta tgggacagtg gagattttaa accacagaac
     1081 tggacataag tgtgtgcttc actttaaacc gtgtggatta tttggaaaag aacttcacaa
     1141 ggtggaagga cacattcaag acaaaaacaa aaagaagctc tttatgatct atggcaaatg
     1201 gacggaatgt ttgtggggca tagatcctgt ttcgtatgaa tccttcaaga agcaggagag
     1261 gagaggtgac cacctgagaa aggccaagct ggatgaagac tccgggaagg ctgacagcga
     1321 cgtggctgac gacgtgcctg tggcccagga gaccgtgcag gtcattcctg gcagcaagct
     1381 gctctggagg atcaacaccc ggccccccaa ctctgcccag atgtataatt tcaccagttt
     1441 cactgtgagc ctcaacgagc tggagacagg catggagaag accctgccac ccacggactg
     1501 ccgcctgcgc cctgacatcc gcggcatgga gaatggcaac atggatctgg ccagccagga
     1561 gaaggagcgg ctggaggaga agcagagaga agcacggagg gagcgggcca aggaggaggc
     1621 agagtggcag acgaggtggt tctacccagg caataacccc tacactggga cccccgactg
     1681 gttgtatgca ggggattact ttgagcggaa tttctccgac tgcccagata tctactgagg
     1741 gcctggaggg gcctggggcc cgggaccgga ggctgacgag gctggacttc ctcgagtggc
     1801 cactgtgagc ctcgtcacag cagaaaccaa cttttctaac gactgagttc gcggagatag
     1861 catcatccct gatcaaggat gtaattctaa ttaactgttg attgccaaac atttcactct
     1921 gctgtgccgt ctcttcataa agcttcactt gggatcatcg tcttcattaa ggtttcaaca
     1981 gggaaattct tcacggcgcc cttttatgtg gcagaaatca gctggggctt gtttagcttc
     2041 cagcacactc tcagtcatag catgtgtagc taaaggaagt aatgggaagg ggttcatgtt
     2101 ctctttataa tgcagtggca aaaggttctg aaagcctttt aaactcgaac cagtggggga
     2161 aagatggatc ttgaagctaa tcctgcagag agttttatag aggccaggga ttgccttcta
     2221 aattatgata aaacagaagt gaagagtttc agagcatcag attgagtgaa aagttgtcag
     2281 attctgtatt ttttaacaat cttcaataat gtaaagatta cttttaaaat atttaagtta
     2341 aaactacttg aatagtattt tgctgaagag caagatatgc attaatcacc ggttttatac
     2401 tgtccaaaat gaagcatccc cgtgacaaac cagagtgggc agaagcatcg agagcgtgac
     2461 aggaaatccc aagactgctt ccgcctcaga ggcgtcccgg ctgcgattcg ctgccctgtt
     2521 gtcagtgagg cctggctgtc accgcacacc gcgtccgtgt ctccaggggg ttcctttctt
     2581 ctcacacgtc gcgtgtaccc atagcactct tgtgtttctg tttttcccag tatgcatgtt
     2641 taaaatagaa gtgacaagaa tcacatccgg ttgtgtcctg tgggagggtc agaggcagaa
     2701 tctacttaca gtggtgtaat taaagttatt taaccaaaaa taggtatgtg tccatctcag
     2761 cattcacctt tatcaagtga ctgatttttt tttcttttct ttcctttttt tttttttttt
     2821 gagacggagt ttcactcttg ttgcccaggc tggagtgcaa tggcatgatc tcggctcacc
     2881 gcaacctccg cctcccgggt tcaagcgatt ctcctgcctc agcctcccaa gtagctggga
     2941 ttacaggcac gcgccaccac acctggctga ttttgtattt ttagtagaca cgggttttca
     3001 ccatgttggt caggctggtc tcaaactccc gacctcaagt agtctgcctg cctcaacctc
     3061 ccaaagtgct gggattacag gcgtgagcca ctgcgcctgg ccgtgactga ttttttttca
     3121 tgtagaattg tcaacacgag agatcacagt ggagcacttt gaaagaccgt cggttgtgtg
     3181 cacgcacgca cacactcatg cacacgctga cacgcggttg catggagtcc aggttactca
     3241 ggccggcact tctgagtgac aggtgccacc tgcgtgtgtc ttggcgtcca catcacacct
     3301 gtgacggaag cacttctgga agtgaacact cgttttgaaa gcttgatttt gtagctttgg
     3361 aagctggaag cgatggtgtt tggtgccgag tcctgtgtca tcctcggggc ctatgagctc
     3421 cgtaccagcc actcaaaagt gtctgaacag aaccgctccg tgactggtag ctgggtctga
     3481 ggattcagga ttgtggcgtt attcaaagag gagactttga aattccccga tggctggaat
     3541 gtggagccca ggtgcctctg gtggagggtc atctgctttt ccagactgtg gttgtgaacc
     3601 ggctccttct ccaagaaagg ttgcaagctg agaacatcca gaggtgagac tcagacacat
     3661 tgaaagtgac tgcatttagg gaggtttaac gagttcttac tgatcattcc acttgttact
     3721 ggttaagata atttgcccac gggtttgttt ccaagtcctc ttctaggacc aggctcctgg
     3781 tatttcaggg gctggttggc tgcacagaca gcccctcttc tgctgtcctt gaggacagac
     3841 accaaaccag aggtggagga agaacggtag gaaggctgat ggcaaaagcg gctgtgtgtc
     3901 gaggttattt taacttttta ctactttttg ttactgtttc tgcaaatgct aacacataaa
     3961 ccatgaccta acttttgtca ccttggatat ctattgaatg ttaaacatct ctaataaaga
     4021 tggccaccac ttaa
//
