LOCUS       NM_024613               2901 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens pleckstrin homology and FYVE domain containing 2
            (PLEKHF2), mRNA.
ACCESSION   NM_024613
VERSION     NM_024613.4
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 2901)
  AUTHORS   Schink,K.O., Tan,K.W., Spangenberg,H., Martorana,D., Sneeggen,M.,
            Stevenin,V., Enninga,J., Campsteijn,C., Raiborg,C. and Stenmark,H.
  TITLE     The phosphoinositide coincidence detector Phafin2 promotes
            macropinocytosis by coordinating actin organisation at forming
            macropinosomes
  JOURNAL   Nat Commun 12 (1), 6577 (2021)
   PUBMED   34772942
  REMARK    GeneRIF: The phosphoinositide coincidence detector Phafin2 promotes
            macropinocytosis by coordinating actin organisation at forming
            macropinosomes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2901)
  AUTHORS   Shamsara,E. and Shamsara,J.
  TITLE     Bioinformatics analysis of the genes involved in the extension of
            prostate cancer to adjacent lymph nodes by supervised and
            unsupervised machine learning methods: The role of SPAG1 and
            PLEKHF2
  JOURNAL   Genomics 112 (6), 3871-3882 (2020)
   PUBMED   32619574
  REMARK    GeneRIF: Bioinformatics analysis of the genes involved in the
            extension of prostate cancer to adjacent lymph nodes by supervised
            and unsupervised machine learning methods: The role of SPAG1 and
            PLEKHF2.
REFERENCE   3  (bases 1 to 2901)
  AUTHORS   Tang,T.X., Finkielstein,C.V. and Capelluto,D.G.S.
  TITLE     The C-terminal acidic motif of Phafin2 inhibits PH domain binding
            to phosphatidylinositol 3-phosphate
  JOURNAL   Biochim Biophys Acta Biomembr 1862 (6), 183230 (2020)
   PUBMED   32126233
  REMARK    GeneRIF: The C-terminal acidic motif of Phafin2 inhibits PH domain
            binding to phosphatidylinositol 3-phosphate.
REFERENCE   4  (bases 1 to 2901)
  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   5  (bases 1 to 2901)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2901)
  AUTHORS   Pedersen,N.M., Raiborg,C., Brech,A., Skarpen,E., Roxrud,I.,
            Platta,H.W., Liestol,K. and Stenmark,H.
  TITLE     The PtdIns3P-binding protein Phafin 2 mediates epidermal growth
            factor receptor degradation by promoting endosome fusion
  JOURNAL   Traffic 13 (11), 1547-1563 (2012)
   PUBMED   22816767
  REMARK    GeneRIF: Phafin2 controls EGFR trafficking through early endosomes
            by facilitating endosome fusion in concert with EEA1.
REFERENCE   7  (bases 1 to 2901)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   8  (bases 1 to 2901)
  AUTHORS   Niu,N., Qin,Y., Fridley,B.L., Hou,J., Kalari,K.R., Zhu,M., Wu,T.Y.,
            Jenkins,G.D., Batzler,A. and Wang,L.
  TITLE     Radiation pharmacogenomics: a genome-wide association approach to
            identify radiation response biomarkers using human lymphoblastoid
            cell lines
  JOURNAL   Genome Res 20 (11), 1482-1492 (2010)
   PUBMED   20923822
REFERENCE   9  (bases 1 to 2901)
  AUTHORS   Lin,W.J., Yang,C.Y., Lin,Y.C., Tsai,M.C., Yang,C.W., Tung,C.Y.,
            Ho,P.Y., Kao,F.J. and Lin,C.H.
  TITLE     Phafin2 modulates the structure and function of endosomes by a
            Rab5-dependent mechanism
  JOURNAL   Biochem Biophys Res Commun 391 (1), 1043-1048 (2010)
   PUBMED   19995552
  REMARK    GeneRIF: These results provide a vivid example that an endosome
            modulator, such as Phafin2, may control the cells' responses to the
            extracellular cues.
REFERENCE   10 (bases 1 to 2901)
  AUTHORS   Li,C., Liu,Q., Li,N., Chen,W., Wang,L., Wang,Y., Yu,Y. and Cao,X.
  TITLE     EAPF/Phafin-2, a novel endoplasmic reticulum-associated protein,
            facilitates TNF-alpha-triggered cellular apoptosis through
            endoplasmic reticulum-mitochondrial apoptotic pathway
  JOURNAL   J Mol Med (Berl) 86 (4), 471-484 (2008)
   PUBMED   18288467
  REMARK    GeneRIF: Results demonstrate that EAPF/Phafin-2 facilitates
            TNF-alpha-induced cellular apoptosis through an ER-mitochondrial
            apoptotic pathway.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018801.4, AL834473.1 and AA767886.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024613.3.
            
            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 :: SRR1803612.19888.1,
                                           SRR1660803.189498.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315367.4/ ENSP00000322373.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC018801.4         57896-57921         c
            27-2899             AL834473.1         14-2886
            2900-2901           AA767886.1         13-14               c
FEATURES             Location/Qualifiers
     source          1..2901
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..2901
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /note="pleckstrin homology and FYVE domain containing 2"
                     /db_xref="GeneID:79666"
                     /db_xref="HGNC:HGNC:20757"
                     /db_xref="MIM:615208"
     exon            1..246
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /inference="alignment:Splign:2.1.0"
     exon            247..2901
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /inference="alignment:Splign:2.1.0"
     CDS             261..1010
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /note="PH and FYVE domain-containing protein 2; PH
                     domain-containing family F member 2; zinc finger FYVE
                     domain-containing protein 18; endoplasmic
                     reticulum-associated apoptosis-involved protein containing
                     PH and FYVE domains; pleckstrin homology domain
                     containing, family F (with FYVE domain) member 2"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family F
                     member 2"
                     /protein_id="NP_078889.1"
                     /db_xref="CCDS:CCDS6267.1"
                     /db_xref="GeneID:79666"
                     /db_xref="HGNC:HGNC:20757"
                     /db_xref="MIM:615208"
                     /translation="MVDRLANSEANTRRISIVENCFGAAGQPLTIPGRVLIGEGVLTK
                     LCRKKPKARQFFLFNDILVYGNIVIQKKKYNKQHIIPLENVTIDSIKDEGDLRNGWLI
                     KTPTKSFAVYAATATEKSEWMNHINKCVTDLLSKSGKTPSNEHAAVWVPDSEATVCMR
                     CQKAKFTPVNRRHHCRKCGFVVCGPCSEKRFLLPSQSSKPVRICDFCYDLLSAGDMAT
                     CQPARSDSYSQSLKSPLNDMSDDDDDDDSSD"
     regulatory      2879..2884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /note="hexamer: AATAAA"
     polyA_site      2901
                     /gene="PLEKHF2"
                     /gene_synonym="EAPF; PHAFIN2; ZFYVE18"
                     /note="major polyA site"
ORIGIN      
        1 agaggccagc ccaggcagcc gttgtcgggt tcgactggag gggcggggga gtcacctgcg
       61 agcggctgcg ctggcggcca gcccgcccac cgcgtctgga tcgcgccggc tgcgcggggc
      121 tgcggacagc acacaccctg gaaggccccg gcggggaacg ggcagagtcc gcgccctgcg
      181 tccgcgacca ggaggatcgg accttcgcct tcgctgtcgc cgccgccgcc gcccgcggcc
      241 gtcggggcta ttagtgaaag atggtggatc gcttggcaaa cagtgaagca aatactagac
      301 gtataagtat agtggaaaac tgttttggag cagctggtca acctttaact atacctggac
      361 gagttcttat tggagaagga gtattgacta agttgtgcag gaaaaagccc aaagcaaggc
      421 agtttttctt gtttaatgat attcttgtat atggcaatat tgtcatccag aagaaaaaat
      481 ataacaaaca acatattatt cccctggaaa atgtcactat tgattccatc aaagatgagg
      541 gagacttaag gaatggatgg ctaatcaaga caccaactaa atcttttgca gtttatgctg
      601 ccactgctac ggagaaatca gaatggatga atcatataaa taaatgtgtt actgatttac
      661 tctccaaaag tgggaagaca cccagtaatg aacatgctgc tgtctgggtt cctgactctg
      721 aggcaactgt atgtatgcgt tgtcagaaag caaaattcac acctgttaat cgtcgccacc
      781 attgccgcaa atgtggtttt gttgtctgtg ggccctgctc tgaaaagaga tttcttcttc
      841 ccagccagtc ctctaagcct gtgcggattt gtgacttctg ctatgacctg ctttctgctg
      901 gggacatggc cacatgccag cctgctagat cagactctta cagccagtca ttgaagtctc
      961 ctttaaatga tatgtctgat gatgatgacg atgatgatag cagtgactaa ggacacattt
     1021 gggagtattt aatcaggtgt ggctatctga gaaatcaact ttgggggaaa tgtaagattc
     1081 tgagctctct ctctgttttg ttctagccat gaatttgcct gagaaacttg taacctatgt
     1141 gcctcaatat attccataga aagtaggtcc ccctgccttc tcccactcct cacactcttc
     1201 tacagggata ggcttttgca aatatatcag ataaattttt tgtttcttgt ttatttttag
     1261 gttattttct tggaaggttg ggaaaagatg tttgttttaa caggtcatgt actacgttgt
     1321 tgttttcatt tctgttataa gtaaaactaa aagcacagaa tggtgggaaa ggggctataa
     1381 tgtggttcat taataatgtt agcagctttt ttctaaccat cctgtctaat ggttaagaca
     1441 ccagtaacaa aaacacatga tttggaaata ctttggcttt ttcatatacc tagtggtgcc
     1501 ttatcataat agcactgtta catgaaataa gcccctacct tcttactttc tggtttgttg
     1561 aaaaaataca ctggtgctct ttgaagtgat aaaatgagtg tttatgaatg ggtgtaatta
     1621 ggaaatactt ctcatctgac agctacaaat aactaagttt ggaggtattt tcactctata
     1681 tgaataaata tttttccata aaatagttgt gattatattt ttgttttata taggtcccaa
     1741 attataattg tcaaatatat attttaaatt aataaaagtt gtcattctta ggaatttggt
     1801 ttgaaattta tcagttatac agaattgtca tactgcatta gcttctacct ttagtaagac
     1861 atatttttta ggtataaatt cttatgcttt aacattattt ctggattgaa aatcttataa
     1921 aacccttgaa aataaacagt ctctttttta caaagcctgt gttagagcac agatttacct
     1981 aggcttgaag atttggaaga aataatatgt aagaatggcc tcaaggcaga ccactttaag
     2041 tttggctaga cttcatatcg tggaagtatt gtctatttca gtgtgaaact atcttgaatt
     2101 tgcaaatata gtgttatatt ttataaagtt ttgtaaaatc ccaaacaata tttctatttt
     2161 tgtaaaacaa ttgtatgtat aatctgtatt tgaaatcatt ttgcaatcta tggaaataga
     2221 gtagcaattg ctatttctaa attgtgaact ttaagtcaat ctagatttat tttgagaagt
     2281 aattgttcac tctttacttt tgaggcagcc attaggttga aagtatatat ttatcatata
     2341 aaacttgatg cgttttgcac tactctttcc atttatatgc tgcaaacaac tacagtcttt
     2401 gaaatatgga aaatcagcag tctaaagttt gttttaaatt ctaaatttaa aaaatcttca
     2461 aatctgaata taccgcaaat gtcatgagaa gtttgattca gtaacttgtg atggaggatt
     2521 ctttggtatc ttactgtttg gttaaggcac taattttact tacctattag attttgaaag
     2581 tatctgagat atacaaatct ccctgtagga aatgtgaaag aaaagcacaa caaaactagg
     2641 gttttttgtt catttgcttg cttttatgat tttttttggt ttgttttaat atcaggtgga
     2701 tttttgtttc taagcaatat atacataaaa tcaaccaaca tatctgaaaa ggatcatgaa
     2761 acctgagaaa tgctaatgga gatttgctgg tacataggaa tctagcaaat tcaggaacca
     2821 aggggaaatg ttgtgagata acatttacat tgtcaacctt tattgacttt gtttttacaa
     2881 taaaaaatat tttacaactt a
//
