LOCUS       NM_001330103            4269 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript
            variant 6, mRNA.
ACCESSION   NM_001330103 XM_006717911
VERSION     NM_001330103.2
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 4269)
  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   2  (bases 1 to 4269)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 4269)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   4  (bases 1 to 4269)
  AUTHORS   Yang,J., Kim,O., Wu,J. and Qiu,Y.
  TITLE     Interaction between tyrosine kinase Etk and a RUN domain- and FYVE
            domain-containing protein RUFY1. A possible role of ETK in
            regulation of vesicle trafficking
  JOURNAL   J Biol Chem 277 (33), 30219-30226 (2002)
   PUBMED   11877430
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL136233.14, AY528716.1, AF411980.1, AC016395.5 and BM998747.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001330103.1.
            
            Transcript Variant: This variant (6) uses an alternate 5'-terminal
            exon, resulting in a different 5' UTR and use of an alternate start
            codon compared to variant 1. It encodes isoform d, which has a
            distinct N-terminus and is shorter than isoform d.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.1935707.1,
                                           SRR14038191.311997.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000602465.6/ ENSP00000473462.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL136233.14        63230-63247         c
            19-1217             AY528716.1         1-1199
            1218-1872           AF411980.1         1082-1736
            1873-4163           AC016395.5         227-2517
            4164-4269           BM998747.1         13-118              c
FEATURES             Location/Qualifiers
     source          1..4269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.3"
     gene            1..4269
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="RUN and FYVE domain containing 2"
                     /db_xref="GeneID:55680"
                     /db_xref="HGNC:HGNC:19761"
                     /db_xref="MIM:610328"
     exon            1..92
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1909
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="isoform d is encoded by transcript variant 6; Run-
                     and FYVE-domain containing protein; RUN and FYVE
                     domain-containing protein 2; antigen MU-RMS-40.17;
                     rab4-interacting protein related"
                     /codon_start=1
                     /product="RUN and FYVE domain-containing protein 2 isoform
                     d"
                     /protein_id="NP_001317032.1"
                     /db_xref="CCDS:CCDS81470.1"
                     /db_xref="GeneID:55680"
                     /db_xref="HGNC:HGNC:19761"
                     /db_xref="MIM:610328"
                     /translation="MATKDPTAVERANLLNMAKLSIKGLIESALSFGRTLDSDYPPLQ
                     QFFVVMEHCLKHGLKVRKSFLSYNKTIWGPLELVEKLYPEAEEIGASVRDLPGLKTPL
                     GRARAWLRLALMQKKMADYLRCLIIQRDLLSEFYEYHALMMEEEGAVIVGLLVGLNVI
                     DANLCVKGEDLDSQVGVIDFSMYLKNEEDIGNKERNVQIAAILDQKNYVEELNRQLNS
                     TVSSLHSRVDSLEKSNTKLIEELAIAKNNIIKLQEENHQLRSENKLILMKTQQHLEVT
                     KVDVETELQTYKHSRQGLDEMYNEARRQLRDESQLRQDVENELAVQVSMKHEIELAMK
                     LLEKDIHEKQDTLIGLRQQLEEVKAINIEMYQKLQGSEDGLKEKNEIIARLEEKTNKI
                     TAAMRQLEQRLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQKEKQLVQLETDLK
                     IEKEWRQTLQEDLQKEKDALSHLRNETQQIISLKKEFLNLQDENQQLKKIYHEQEQAL
                     QELGNKLSESKLKIEDIKEANKALQGLVWLKDKEATHCKLCEKEFSLSKRKHHCRNCG
                     EIFCNACSDNELPLPSSPKPVRVCDSCHALLIQRCSSNLP"
     exon            93..266
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            267..384
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            385..486
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            487..610
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            611..672
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            673..738
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            739..808
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            809..910
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1027
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1195
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1293
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1413
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1543
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1638
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1687
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1765
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..4269
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4115..4120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="hexamer: AATAAA"
     regulatory      4140..4145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="hexamer: AATAAA"
     polyA_site      4141
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="major polyA site"
     polyA_site      4172
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="major polyA site"
     regulatory      4243..4248
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
                     /note="hexamer: AATAAA"
     polyA_site      4269
                     /gene="RUFY2"
                     /gene_synonym="RABIP4R; ZFYVE13"
ORIGIN      
        1 agatgcggtg gtggccgccg agcgcctgga aggagctgct ggacaggccg agggagcctc
       61 cgcccgagac cgcgcagccg ccgccgccat ggctacaaaa gaccccacag ctgtagagag
      121 agcaaacttg ttaaacatgg ctaaactgag tatcaaagga ctcattgaat ctgctctgag
      181 ctttggccgc actttggatt ctgactatcc ccccttgcag caattctttg ttgttatgga
      241 acattgcctg aaacacggtc ttaaagtaag aaaatcattt ttgagttaca acaaaaccat
      301 ctggggccct ttggaactgg tggagaagct gtaccccgaa gcagaggaaa taggagctag
      361 tgtccgggat ctacctggtc tgaagacccc tctgggtcga gcaagagcgt ggcttcgatt
      421 agccctcatg caaaaaaaaa tggccgatta cttacgttgc ttaattattc agagggatct
      481 cttgagtgag ttttatgagt atcacgcact aatgatggaa gaagaaggag cagtaattgt
      541 tgggctgctg gttggcctga atgtgatcga tgctaatctg tgtgtgaagg gagaggattt
      601 agactcacaa gttggagtga ttgatttttc tatgtattta aagaatgaag aagatattgg
      661 aaataaagaa aggaatgttc aaattgctgc catattagac caaaagaatt atgttgaaga
      721 attaaataga caactgaaca gcacagtcag cagcctccat tcaagagttg attcattaga
      781 aaagtcaaat actaagctga ttgaagagtt agcaatagca aagaataaca tcattaaact
      841 ccaggaagaa aatcatcaat tacgaagtga aaataaattg attttaatga aaacacagca
      901 gcacctagag gttaccaaag tagatgtgga aactgagctt caaacatata agcattctcg
      961 tcaggggcta gatgaaatgt acaatgaagc cagaaggcag cttcgagatg aatctcagtt
     1021 acgacaggat gtagagaatg agctagcagt acaagttagt atgaagcatg agattgaact
     1081 tgccatgaag ttgctggaga aagatatcca tgagaaacaa gatactctga taggccttcg
     1141 acaacaacta gaggaagtta aagcaattaa catagagatg tatcaaaagt tgcagggttc
     1201 tgaagatggc ttgaaagaaa aaaatgaaat aattgcccga ctagaagaaa aaaccaataa
     1261 aattactgca gccatgaggc agctggaaca aagattgcag caagcagaga aggcgcaaat
     1321 ggaagctgaa gatgaggatg agaaatatct acaagaatgt ctcagtaaat ctgatagtct
     1381 gcagaaacaa atctcccaaa aggagaaaca gctggtgcaa ctggaaactg acttgaagat
     1441 tgagaaggaa tggaggcaga ctttgcagga agatcttcaa aaggagaaag atgccttatc
     1501 tcatcttaga aatgagactc aacaaatcat tagtcttaaa aaagagttcc ttaacctcca
     1561 ggatgaaaat cagcagttga aaaaaatata tcatgaacaa gagcaagctc ttcaagaact
     1621 cggcaacaag cttagcgaat caaaacttaa aattgaagac ataaaagaag ccaacaaagc
     1681 attgcaggga ctggtttggc tgaaagacaa agaagcaaca cattgtaaac tttgtgaaaa
     1741 ggaattctca ctctctaaga gaaagcacca ctgtagaaat tgtggggaaa ttttctgtaa
     1801 tgcctgctct gacaacgaac tacctttgcc ttcttcacca aaaccagtac gggtttgtga
     1861 ttcctgtcat gcactgctca ttcagagatg ctcatctaac ttgccctgag actccagaac
     1921 taaatcctta tgtatgaaat tacctacaat gaatgttatg atgttgtata caaaggtaac
     1981 cagacagctc tccttaagcg gctttcggtc agtatttggt accagtttat cttctacata
     2041 ttcagctcat ggaaattaca agttatatat ttccttcccc attgtttttc aaaatgtatt
     2101 ttcaacagag catgcttaaa aatcatgtaa ctcattaaaa ggccagagag cagagctaac
     2161 acaacttgcc ttatcttgta aaggccttaa aaataaggct tcagattgtt tttttcttct
     2221 gaattctgtc aatttggtat ttgatggtgc ctgcagttct cttaatgcac tttaaagctt
     2281 cacagttctg aaactggaaa cgcataaaac ttttaaaatt attaatattc taattcaaca
     2341 gattttcatt atctttgtaa gatttcaact atatttattt gccctttctt ctccccctct
     2401 ccctttgcct cttgcattag acagggccaa tattttgtcc tacaaaattt cctcttggtc
     2461 tctttaaaaa tcagttattg tcgtgcttgc tgaagatttt cagctacagt ggattaaatt
     2521 aaagggggca ttatttggcc tcggcctcta cttttttcct tttaatcttg aaaggaagtt
     2581 acatataacc atctttcttt tcctgattta taaatcttcc catatgctgt ttcattaaat
     2641 tgctgttttt ttaaggggtg actcagaccc caattcaaag atgaaaacac aaatccttcc
     2701 ccagaaaaaa aagtatgtaa tagtagggga tgttacaggc tccttataaa ggtcctctcc
     2761 tctaagcatt aaaagtgaga aaaaaatcag gactttgctt tggtaatgta ttagagttca
     2821 gttcaaaaaa ttttgtatta acattttcat tggagtaaat tttaggaagt atcacattgt
     2881 agtggcctac ctgtatacat ccacagtaaa atttcaccat gtccattgag cacctctatg
     2941 ccaagggtgt tgagatgatg aaatatacac ttgacctatt tctttttttt tcgagatgga
     3001 gtttcactct tgttgcctag gctggagtgc aatggcacga tctccacctc ctgggttcaa
     3061 gcaattctcc tgcctcagcc tcccaagtag ctgggattac aggcgtgagc cacagcacct
     3121 ggccagtaca cttgacctat ttcaagctga ctcaatgaac actaatccaa gttatattgc
     3181 ttatggcata ctaagaattt aacttgtata aattacctct gaatagttac ataaacacta
     3241 tcaccattca gtatcctatt ttttacatta atttttaacc atgcacttta agtttgtgag
     3301 cctataaaaa atacatagaa aatttatgga ttaagagcat tatatttagt ggttaatcct
     3361 aggtacctcc ctgcctacaa aggagttctt attaatactg caggatcttt tcttcatgaa
     3421 tatatgcttc catgaaattt aaatttttct gaatagccta agtatgaaat gaatatttta
     3481 cttgaagatc tattttttcc aaaacccgta aatttccagt cagcttttga ggtgtcagat
     3541 gtgacacaga tttctagatg gtctttcttg aatactgaca gaaatgtcct caagagagga
     3601 ttatattctt gaaccatttt gtattgatag gtgggatggg ctaacatttt tatgattact
     3661 gaataaacaa aaaatgaaat tttcaaatat gcttttttat tactgtgctt agaacaaatt
     3721 ttaaaatgtg acttaagttg cttaaattcc aaggctaatt tcattcaaca aaccatgatt
     3781 ttgtcatcct ttaagtaagt ttctcacttt tcaaaactca tgtatcaaca ctgactgact
     3841 tgcttttttt tttttttttt ttttttttag gcagctttta tgacagcaac ttgctccatg
     3901 tagttttggc ttatttaaaa actatactaa ctttggattt ttctgttaca agacttttaa
     3961 caatctgtat ttcgtgattg tgaactcgta ttcattttac ttttcaaaaa cagacttaac
     4021 ataccattcc ctcacctagc agtactacca caataatgct atcatggtgc cagggaatta
     4081 caattgtaat tcttctaacc tataatgttt aaaaaataaa atgtgaattt tatgaactaa
     4141 ataaatattt ggaaaattag cctgctttaa aagggcaatt ttggtttcat taatactgta
     4201 tacttttact gctttaagat gttaagagag taatcctggg aaaataaaac acatacaact
     4261 ttcaaaaaa
//
