LOCUS       NM_004470                574 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FKBP prolyl isomerase 2 (FKBP2), transcript variant 1,
            mRNA.
ACCESSION   NM_004470
VERSION     NM_004470.4
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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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 574)
  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.
            
            On Nov 23, 2018 this sequence version replaced NM_004470.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 through 6 variants encode the same isoform.
            
            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 :: BC091475.1, GQ901006.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309366.9/ ENSP00000310935.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AP001453.6         13277-13314
            39-213              AP001453.6         14566-14740
            214-326             AP001453.6         15381-15493
            327-373             AP001453.6         15633-15679
            374-409             AP001453.6         16023-16058
            410-574             AP001453.6         16150-16314
FEATURES             Location/Qualifiers
     source          1..574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..574
                     /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..38
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            39..213
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..471
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /EC_number="5.2.1.8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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_004461.2"
                     /db_xref="CCDS:CCDS8063.1"
                     /db_xref="GeneID:2286"
                     /db_xref="HGNC:HGNC:3718"
                     /db_xref="MIM:186946"
                     /translation="MRLSWFRVLTVLSICLSAVATATGAEGKRKLQIGVKKRVDHCPI
                     KSRKGDVLHMHYTGKLEDGTEFDSSLPQNQPFVFSLGTGQVIKGWDQGLLGMCEGEKR
                     KLVIPSELGYGERGAPPKIPGGATLVFEVELLKIERRTEL"
     exon            214..326
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            327..373
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            374..409
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     exon            410..574
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      550..555
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /note="hexamer: AACAAA"
     polyA_site      574
                     /gene="FKBP2"
                     /gene_synonym="FKBP-13; FKBP13; PPIase"
                     /note="major polyA site"
ORIGIN      
        1 agcaccaccg gggttgactc cgggggcgcg gcgaggagag acatgaggct gagctggttc
       61 cgggtcctga cagtactgtc catctgcctg agcgccgtgg ccacggccac gggggccgag
      121 ggcaaaagga agctgcagat cggggtcaag aagcgggtgg accactgtcc catcaaatcg
      181 cgcaaagggg atgtcctgca catgcactac acggggaagc tggaagatgg gacagagttt
      241 gacagcagcc tgccccagaa ccagcccttt gtcttctccc ttggcacagg ccaggtcatc
      301 aagggctggg accaggggct gctggggatg tgtgaggggg aaaagcgcaa gctggtgatc
      361 ccatccgagc tagggtatgg agagcgggga gctcccccaa agattccagg tggtgcaacc
      421 ctggtgttcg aggtggagct gctcaaaata gagcgacgaa ctgagctgta accagactgg
      481 ggaggggcag ggggagaggc ccccatcagg gaccagactg ttccaaaaaa aaaacaaaaa
      541 acaaaaacaa acaaaaaaac acttaaaagc ccaa
//
