LOCUS       NM_144498               3944 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens oxysterol binding protein like 2 (OSBPL2), transcript
            variant 2, mRNA.
ACCESSION   NM_144498
VERSION     NM_144498.4
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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 3944)
  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 DA301911.1, AF392447.1,
            AL354836.13 and BF507780.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_144498.3.
            
            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].
            
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longest isoform (2).
            
            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 :: AF392447.1, BC000296.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313733.9/ ENSP00000316649.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA301911.1         37-39
            4-2870              AF392447.1         1-2867
            2871-3781           AL354836.13        59535-60445
            3782-3944           BF507780.1         48-210              c
FEATURES             Location/Qualifiers
     source          1..3944
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.33"
     gene            1..3944
                     /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"
     CDS             206..1648
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     oxysterol-binding protein-related protein 2; OSBP-related
                     protein 2"
                     /codon_start=1
                     /product="oxysterol-binding protein-related protein 2
                     isoform 2"
                     /protein_id="NP_653081.1"
                     /db_xref="CCDS:CCDS13495.1"
                     /db_xref="GeneID:9885"
                     /db_xref="HGNC:HGNC:15761"
                     /db_xref="MIM:606731"
                     /translation="MNGEEEFFDAVTGFDSDNSSGEFSEANQKVTGMIDLDTSKNNRI
                     GKTGERPSQENGIQKHRTSLPAPMFSRSDFSVWTILKKCVGLELSKITMPIAFNEPLS
                     FLQRITEYMEHVYLIHRASCQPQPLERMQSVAAFAVSAVASQWERTGKPFNPLLGETY
                     ELIREDLGFRFISEQVSHHPPISAFHSEGLNHDFLFHGSIYPKLKFWGKSVEAEPRGT
                     ITLELLKHNEAYTWTNPTCCVHNVIIGKLWIEQYGTVEILNHRTGHKCVLHFKPCGLF
                     GKELHKVEGHIQDKNKKKLFMIYGKWTECLWGIDPVSYESFKKQERRGDHLRKAKLDE
                     DSGKADSDVADDVPVAQETVQVIPGSKLLWRINTRPPNSAQMYNFTSFTVSLNELETG
                     MEKTLPPTDCRLRPDIRGMENGNMDLASQEKERLEEKQREARRERAKEEAEWQTRWFY
                     PGNNPYTGTPDWLYAGDYFERNFSDCPDIY"
     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..598
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            599..696
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            697..879
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            880..987
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1077
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1201
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1330
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1454
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1545
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..3944
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2629..2634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2650
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="major polyA site"
     regulatory      3923..3928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSBPL2"
                     /gene_synonym="DFNA67; DNFA67; ORP-2; ORP2"
                     /note="hexamer: AATAAA"
     polyA_site      3944
                     /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 ctggagctgt ccaagatcac
      481 gatgccaatc gccttcaacg agcctctgag cttcttgcag cggatcacgg agtacatgga
      541 gcacgtgtac ctcatccaca gggcctcctg ccagccccag cccctggaga ggatgcagtc
      601 tgtggctgct tttgctgttt cggctgtggc ttcccagtgg gagaggaccg gcaaaccatt
      661 taatccactc ttgggagaaa cgtatgaatt aatcagggaa gatttaggat tcagatttat
      721 atcggaacag gtcagtcacc acccccccat cagtgcgttc cactcggaag gtctcaacca
      781 tgacttcctg ttccatggct ccatctaccc caagctcaag ttctggggca aaagcgtgga
      841 ggcggagccc cgaggcacca tcaccctgga gctgctcaaa cataatgaag cctacacctg
      901 gaccaacccc acctgctgcg tccacaacgt catcatcggg aagctgtgga tagagcagta
      961 tgggacagtg gagattttaa accacagaac tggacataag tgtgtgcttc actttaaacc
     1021 gtgtggatta tttggaaaag aacttcacaa ggtggaagga cacattcaag acaaaaacaa
     1081 aaagaagctc tttatgatct atggcaaatg gacggaatgt ttgtggggca tagatcctgt
     1141 ttcgtatgaa tccttcaaga agcaggagag gagaggtgac cacctgagaa aggccaagct
     1201 ggatgaagac tccgggaagg ctgacagcga cgtggctgac gacgtgcctg tggcccagga
     1261 gaccgtgcag gtcattcctg gcagcaagct gctctggagg atcaacaccc ggccccccaa
     1321 ctctgcccag atgtataatt tcaccagttt cactgtgagc ctcaacgagc tggagacagg
     1381 catggagaag accctgccac ccacggactg ccgcctgcgc cctgacatcc gcggcatgga
     1441 gaatggcaac atggatctgg ccagccagga gaaggagcgg ctggaggaga agcagagaga
     1501 agcacggagg gagcgggcca aggaggaggc agagtggcag acgaggtggt tctacccagg
     1561 caataacccc tacactggga cccccgactg gttgtatgca ggggattact ttgagcggaa
     1621 tttctccgac tgcccagata tctactgagg gcctggaggg gcctggggcc cgggaccgga
     1681 ggctgacgag gctggacttc ctcgagtggc cactgtgagc ctcgtcacag cagaaaccaa
     1741 cttttctaac gactgagttc gcggagatag catcatccct gatcaaggat gtaattctaa
     1801 ttaactgttg attgccaaac atttcactct gctgtgccgt ctcttcataa agcttcactt
     1861 gggatcatcg tcttcattaa ggtttcaaca gggaaattct tcacggcgcc cttttatgtg
     1921 gcagaaatca gctggggctt gtttagcttc cagcacactc tcagtcatag catgtgtagc
     1981 taaaggaagt aatgggaagg ggttcatgtt ctctttataa tgcagtggca aaaggttctg
     2041 aaagcctttt aaactcgaac cagtggggga aagatggatc ttgaagctaa tcctgcagag
     2101 agttttatag aggccaggga ttgccttcta aattatgata aaacagaagt gaagagtttc
     2161 agagcatcag attgagtgaa aagttgtcag attctgtatt ttttaacaat cttcaataat
     2221 gtaaagatta cttttaaaat atttaagtta aaactacttg aatagtattt tgctgaagag
     2281 caagatatgc attaatcacc ggttttatac tgtccaaaat gaagcatccc cgtgacaaac
     2341 cagagtgggc agaagcatcg agagcgtgac aggaaatccc aagactgctt ccgcctcaga
     2401 ggcgtcccgg ctgcgattcg ctgccctgtt gtcagtgagg cctggctgtc accgcacacc
     2461 gcgtccgtgt ctccaggggg ttcctttctt ctcacacgtc gcgtgtaccc atagcactct
     2521 tgtgtttctg tttttcccag tatgcatgtt taaaatagaa gtgacaagaa tcacatccgg
     2581 ttgtgtcctg tgggagggtc agaggcagaa tctacttaca gtggtgtaat taaagttatt
     2641 taaccaaaaa taggtatgtg tccatctcag cattcacctt tatcaagtga ctgatttttt
     2701 tttcttttct ttcctttttt tttttttttt gagacggagt ttcactcttg ttgcccaggc
     2761 tggagtgcaa tggcatgatc tcggctcacc gcaacctccg cctcccgggt tcaagcgatt
     2821 ctcctgcctc agcctcccaa gtagctggga ttacaggcac gcgccaccac acctggctga
     2881 ttttgtattt ttagtagaca cgggttttca ccatgttggt caggctggtc tcaaactccc
     2941 gacctcaagt agtctgcctg cctcaacctc ccaaagtgct gggattacag gcgtgagcca
     3001 ctgcgcctgg ccgtgactga ttttttttca tgtagaattg tcaacacgag agatcacagt
     3061 ggagcacttt gaaagaccgt cggttgtgtg cacgcacgca cacactcatg cacacgctga
     3121 cacgcggttg catggagtcc aggttactca ggccggcact tctgagtgac aggtgccacc
     3181 tgcgtgtgtc ttggcgtcca catcacacct gtgacggaag cacttctgga agtgaacact
     3241 cgttttgaaa gcttgatttt gtagctttgg aagctggaag cgatggtgtt tggtgccgag
     3301 tcctgtgtca tcctcggggc ctatgagctc cgtaccagcc actcaaaagt gtctgaacag
     3361 aaccgctccg tgactggtag ctgggtctga ggattcagga ttgtggcgtt attcaaagag
     3421 gagactttga aattccccga tggctggaat gtggagccca ggtgcctctg gtggagggtc
     3481 atctgctttt ccagactgtg gttgtgaacc ggctccttct ccaagaaagg ttgcaagctg
     3541 agaacatcca gaggtgagac tcagacacat tgaaagtgac tgcatttagg gaggtttaac
     3601 gagttcttac tgatcattcc acttgttact ggttaagata atttgcccac gggtttgttt
     3661 ccaagtcctc ttctaggacc aggctcctgg tatttcaggg gctggttggc tgcacagaca
     3721 gcccctcttc tgctgtcctt gaggacagac accaaaccag aggtggagga agaacggtag
     3781 gaaggctgat ggcaaaagcg gctgtgtgtc gaggttattt taacttttta ctactttttg
     3841 ttactgtttc tgcaaatgct aacacataaa ccatgaccta acttttgtca ccttggatat
     3901 ctattgaatg ttaaacatct ctaataaaga tggccaccac ttaa
//
