LOCUS       NM_001370360             832 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase 2 (FKBP2), transcript variant 4,
            mRNA.
ACCESSION   NM_001370360
VERSION     NM_001370360.1
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 832)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 832)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 832)
  AUTHORS   Ishikawa,Y., Mizuno,K. and Bachinger,H.P.
  TITLE     Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident
            peptidyl prolyl isomerases show different activities toward
            hydroxyproline
  JOURNAL   J Biol Chem 292 (22), 9273-9282 (2017)
   PUBMED   28385890
  REMARK    GeneRIF: observed changes in activity of six rER-resident PPIases,
            cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19
            (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due
            to posttranslational modifications of proline residues in the
            substrate.
REFERENCE   4  (bases 1 to 832)
  AUTHORS   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.
  CONSRTM   DREAM investigators
  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
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 832)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 832)
  AUTHORS   Bush,K.T., Hendrickson,B.A. and Nigam,S.K.
  TITLE     Induction of the FK506-binding protein, FKBP13, under conditions
            which misfold proteins in the endoplasmic reticulum
  JOURNAL   Biochem J 303 (Pt 3) (Pt 3), 705-708 (1994)
   PUBMED   7526846
  REMARK    Erratum:[Biochem J 1995 Feb 1;305(Pt 3):1031]
REFERENCE   7  (bases 1 to 832)
  AUTHORS   Hendrickson,B.A., Zhang,W., Craig,R.J., Jin,Y.J., Bierer,B.E.,
            Burakoff,S. and DiLella,A.G.
  TITLE     Structural organization of the genes encoding human and murine
            FK506-binding protein (FKBP) 13 and comparison to FKBP1
  JOURNAL   Gene 134 (2), 271-275 (1993)
   PUBMED   7505249
REFERENCE   8  (bases 1 to 832)
  AUTHORS   Nigam,S.K., Jin,Y.J., Jin,M.J., Bush,K.T., Bierer,B.E. and
            Burakoff,S.J.
  TITLE     Localization of the FK506-binding protein, FKBP 13, to the lumen of
            the endoplasmic reticulum
  JOURNAL   Biochem J 294 (Pt 2) (Pt 2), 511-515 (1993)
   PUBMED   8373365
REFERENCE   9  (bases 1 to 832)
  AUTHORS   DiLella,A.G., Hawkins,A., Craig,R.J., Schreiber,S.L. and
            Griffin,C.A.
  TITLE     Chromosomal band assignments of the genes encoding human FKBP12 and
            FKBP13
  JOURNAL   Biochem Biophys Res Commun 189 (2), 819-823 (1992)
   PUBMED   1281998
REFERENCE   10 (bases 1 to 832)
  AUTHORS   Jin,Y.J., Albers,M.W., Lane,W.S., Bierer,B.E., Schreiber,S.L. and
            Burakoff,S.J.
  TITLE     Molecular cloning of a membrane-associated human FK506- and
            rapamycin-binding protein, FKBP-13
  JOURNAL   Proc Natl Acad Sci U S A 88 (15), 6677-6681 (1991)
   PUBMED   1713687
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001453.6.
            
            Summary: The protein encoded by this gene is a member of the
            immunophilin protein family, which play a role in immunoregulation
            and basic cellular processes involving protein folding and
            trafficking. This encoded protein is a cis-trans prolyl isomerase
            that binds the immunosuppressants FK506 and rapamycin. It is
            thought to function as an ER chaperone and may also act as a
            component of membrane cytoskeletal scaffolds. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified. [provided by RefSeq, Sep 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-269               AP001453.6         14127-14395
            270-471             AP001453.6         14539-14740
            472-584             AP001453.6         15381-15493
            585-631             AP001453.6         15633-15679
            632-667             AP001453.6         16023-16058
            668-832             AP001453.6         16150-16314
FEATURES             Location/Qualifiers
     source          1..832
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..832
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /note="FKBP prolyl isomerase 2"
                     /db_xref="GeneID:2286"
                     /db_xref="HGNC:HGNC:3718"
                     /db_xref="MIM:186946"
     exon            1..269
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            270..471
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..729
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /EC_number="5.2.1.8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4; rapamycin-binding protein; proline isomerase;
                     peptidyl-prolyl cis-trans isomerase FKBP2; 13 kDa FKBP;
                     PPIase FKBP2; immunophilin FKBP13; 13 kDa FK506-binding
                     protein; rotamase; FK506 binding protein 2, 13kDa;
                     epididymis secretory sperm binding protein; FK506-binding
                     protein 2"
                     /codon_start=1
                     /product="peptidyl-prolyl cis-trans isomerase FKBP2
                     isoform 1 precursor"
                     /protein_id="NP_001357289.1"
                     /db_xref="CCDS:CCDS8063.1"
                     /db_xref="GeneID:2286"
                     /db_xref="HGNC:HGNC:3718"
                     /db_xref="MIM:186946"
                     /translation="MRLSWFRVLTVLSICLSAVATATGAEGKRKLQIGVKKRVDHCPI
                     KSRKGDVLHMHYTGKLEDGTEFDSSLPQNQPFVFSLGTGQVIKGWDQGLLGMCEGEKR
                     KLVIPSELGYGERGAPPKIPGGATLVFEVELLKIERRTEL"
     exon            472..584
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            585..631
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            632..667
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            668..832
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      808..813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /note="hexamer: AACAAA"
     polyA_site      832
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /note="major polyA site"
ORIGIN      
        1 agcggccgca gaggtgttgg tgtgctggac cgggggcagc tgggtgtggc gtgagtgggg
       61 ccgcccagtc ggggcaactg cagtgcagcc agatagggtc tggactttgc gtaaagggac
      121 aggcgggaac tgaagagcgg aggtggggac tgggagggag ggaaggtatg ggggtgagca
      181 aaggggcggg tccctggctg ctgtggcctc ccctgacccc ctccccccgc tgctggggtc
      241 ctcggccaag cccccttctc actggactgt cggtcggtcg gggtctgtgc ccacagagac
      301 atgaggctga gctggttccg ggtcctgaca gtactgtcca tctgcctgag cgccgtggcc
      361 acggccacgg gggccgaggg caaaaggaag ctgcagatcg gggtcaagaa gcgggtggac
      421 cactgtccca tcaaatcgcg caaaggggat gtcctgcaca tgcactacac ggggaagctg
      481 gaagatggga cagagtttga cagcagcctg ccccagaacc agccctttgt cttctccctt
      541 ggcacaggcc aggtcatcaa gggctgggac caggggctgc tggggatgtg tgagggggaa
      601 aagcgcaagc tggtgatccc atccgagcta gggtatggag agcggggagc tcccccaaag
      661 attccaggtg gtgcaaccct ggtgttcgag gtggagctgc tcaaaataga gcgacgaact
      721 gagctgtaac cagactgggg aggggcaggg ggagaggccc ccatcaggga ccagactgtt
      781 ccaaaaaaaa aacaaaaaac aaaaacaaac aaaaaaacac ttaaaagccc aa
//
