LOCUS       NM_032289               4526 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.
ACCESSION   NM_032289
VERSION     NM_032289.4
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 4526)
  AUTHORS   Yu,L., Dawe,R.J., Boyle,P.A., Gaiteri,C., Yang,J., Buchman,A.S.,
            Schneider,J.A., Arfanakis,K., De Jager,P.L. and Bennett,D.A.
  TITLE     Association Between Brain Gene Expression, DNA Methylation, and
            Alteration of Ex Vivo Magnetic Resonance Imaging Transverse
            Relaxation in Late-Life Cognitive Decline
  JOURNAL   JAMA Neurol 74 (12), 1473-1480 (2017)
   PUBMED   29084334
  REMARK    GeneRIF: Brain gene expression of PADI2, ZNF385A, PSD2, and A2ML1
            and DNA methylation dysregulations are implicated in the alteration
            of brain tissue properties associated with late-life cognitive
            decline above and beyond the influence of common neuropathologic
            conditions.
REFERENCE   2  (bases 1 to 4526)
  AUTHORS   Kunkle,B.W., Vardarajan,B.N., Naj,A.C., Whitehead,P.L., Rolati,S.,
            Slifer,S., Carney,R.M., Cuccaro,M.L., Vance,J.M., Gilbert,J.R.,
            Wang,L.S., Farrer,L.A., Reitz,C., Haines,J.L., Beecham,G.W.,
            Martin,E.R., Schellenberg,G.D., Mayeux,R.P. and Pericak-Vance,M.A.
  TITLE     Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in
            Endolysosomal Transport
  JOURNAL   JAMA Neurol 74 (9), 1113-1122 (2017)
   PUBMED   28738127
  REMARK    GeneRIF: PSD2 may be involved in endolysosomal transport-a process
            known to be important to development of early onset AD.
REFERENCE   3  (bases 1 to 4526)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008667.10, AL136559.1 and BM663376.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032289.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.40976.1,
                                           SRR1803612.134771.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274710.4/ ENSP00000274710.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC008667.10        89775-89787
            14-4523             AL136559.1         1-4510
            4524-4526           BM663376.1         16-18               c
FEATURES             Location/Qualifiers
     source          1..4526
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..4526
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="pleckstrin and Sec7 domain containing 2"
                     /db_xref="GeneID:84249"
                     /db_xref="HGNC:HGNC:19092"
                     /db_xref="MIM:620656"
     exon            1..168
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            169..589
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..2534
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="pleckstrin homology and SEC7 domain-containing
                     protein 2; exchange factor for ARF6 C; exchange factor for
                     ADP-ribosylation factor guanine nucleotide factor 6 C"
                     /codon_start=1
                     /product="PH and SEC7 domain-containing protein 2"
                     /protein_id="NP_115665.1"
                     /db_xref="CCDS:CCDS4216.1"
                     /db_xref="GeneID:84249"
                     /db_xref="HGNC:HGNC:19092"
                     /db_xref="MIM:620656"
                     /translation="MEEDKLLSAVPEEGDATRDPGPEPEEEPGVRNGMASEGLNSSLC
                     SPGHERRGTPADTEEPTKDPDVAFHGLSLGLSLTNGLALGPDLNILEDSAESRPWRAG
                     VLAEGDNASRSLYPDAEDPQLGLDGPGEPDVRDGFSATFEKILESELLRGTQYSSLDS
                     LDGLSLTDESDSCVSFEAPLTPLIQQRARDSPEPGAGLGIGDMAFEGDMGAAGGDGEL
                     GSPLRRSISSSRSENVLSRLSLMAMPNGFHEDGPQGPGGDEDDDEEDTDKLLNSASDP
                     SLKDGLSDSDSELSSSEGLEPGSADPLANGCQGVSEAAHRLARRLYHLEGFQRCDVAR
                     QLGKNNEFSRLVAGEYLSFFDFSGLTLDGALRTFLKAFPLMGETQERERVLTHFSRRY
                     CQCNPDDSTSEDGIHTLTCALMLLNTDLHGHNIGKKMSCQQFIANLDQLNDGQDFAKD
                     LLKTLYNSIKNEKLEWAIDEDELRKSLSELVDDKFGTGTKKVTRILDGGNPFLDVPQA
                     LSATTYKHGVLTRKTHADMDGKRTPRGRRGWKKFYAVLKGTILYLQKDEYRPDKALSE
                     GDLKNAIRVHHALATRASDYSKKSNVLKLKTADWRVFLFQAPSKEEMLSWILRINLVA
                     AIFSAPAFPAAVSSMKKFCRPLLPSCTTRLCQEEQLRSHENKLRQLTAELAEHRCHPV
                     ERGIKSKEAEEYRLKEHYLTFEKSRYETYIHLLAMKIKVGSDDLERIEARLATLEGDD
                     PSLRKTHSSPALSQGHVTGSKTTKDATGPDT"
     exon            590..1039
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1234
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1315
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1428
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1487
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1577
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1621
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1812
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1883
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            1884..2041
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            2042..2186
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2330
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     exon            2331..4526
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4458..4463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="hexamer: TATAAA"
     polyA_site      4476
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="major polyA site"
     regulatory      4503..4508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="hexamer: AATAAA"
     polyA_site      4526
                     /gene="PSD2"
                     /gene_synonym="EFA6C"
                     /note="major polyA site"
ORIGIN      
        1 gccgtccgtc cccctcgctc agcctctcca catcgcggct ccggcacctg aagggacgcg
       61 ggcgggcgcg ggcagctccg accggcggcg gcggggcggg acaggcagcc cggcggcctc
      121 cgatggcccc gccgtgagag gccggacccg cggcggggac cagcagcggt ctagaggagt
      181 cccaggagca gccaggacag gcggaagcag tggctgccat ggaggaggac aagctcttat
      241 ctgcagtgcc tgaggaaggc gatgccaccc gtgaccccgg tccagagcct gaagaggagc
      301 caggggtccg gaatgggatg gccagtgagg gcctgaacag cagcctctgc agcccagggc
      361 acgagcgaag gggcacccca gcggacactg aggaacccac gaaggaccca gatgtggcct
      421 tccatggcct cagccttggc ctctctctca ccaatggcct agccctgggg ccagacttga
      481 acattctgga agattcagcg gagtccaggc cctggagggc tggcgtgctg gcagaggggg
      541 acaatgcttc caggagcctc tacccagatg ctgaggaccc tcagctgggg ttggatggtc
      601 ccggggagcc agatgtgcgg gatggcttca gcgccacgtt tgagaagatt ctggagtcag
      661 agctgctgcg gggcacccag tacagcagcc tcgactccct agacgggctg agcctcacgg
      721 atgagagcga cagctgcgtc agcttcgagg cccccctcac acccctcatc cagcagcggg
      781 cccgtgacag ccctgagcca ggggctgggt tgggcattgg ggacatggcg tttgaggggg
      841 acatgggggc agctggtggt gatggggagc tgggcagccc cctgcggcgc tccatctcca
      901 gcagccgctc tgagaatgtc ctgagccgcc tgtctctcat ggccatgccc aatggattcc
      961 atgaagatgg ccctcagggc ccaggggggg atgaggatga tgatgaggag gacacggaca
     1021 agttgctgaa ctcagccagt gaccccagcc tgaaggatgg cctgtcagac tcagactctg
     1081 agctcagcag ctcggagggg ttggagcctg gtagtgcaga ccctctggcc aacgggtgcc
     1141 agggggtcag tgaagctgct catcggctgg cacgccgtct ctaccacctc gagggcttcc
     1201 agcgctgtga tgtggcccgg cagctgggca agaacaacga gtttagcagg ctggtggccg
     1261 gggagtacct cagtttcttc gacttctcgg gcttgactct ggacggagca ctcagaacat
     1321 tcttgaaggc cttcccgctg atgggggaga cacaagagcg tgagcgggtc ctcacacact
     1381 tctcccgccg gtactgccag tgcaaccctg atgacagcac ttcggaagat gggatccaca
     1441 cgctcacctg tgccctgatg ctgctcaaca cggacctgca cggccacaac attggcaaaa
     1501 agatgtcctg tcagcaattc attgccaact tggaccagct gaatgatggc caagactttg
     1561 ccaaagacct gctgaagacc ctttacaact ccatcaagaa tgaaaagctg gaatgggcca
     1621 ttgatgagga tgagctgagg aaatccctgt ctgagctggt ggatgacaag ttcgggacag
     1681 gcacgaagaa ggtgacgcga atcctggatg gtggcaaccc cttcctggat gtcccacagg
     1741 cgctcagtgc caccacctac aagcacggcg tcctgacccg gaagactcac gctgacatgg
     1801 atggcaagag gacgccccgt gggaggcgtg gctggaagaa attctacgca gtgctcaaag
     1861 ggaccatcct gtacctgcag aaggatgagt acaggcctga caaagctcta tcggagggtg
     1921 acctgaagaa cgccattcgc gtgcatcacg ctctggccac cagggcctct gactacagca
     1981 agaagtccaa cgtgctgaag cttaagacag ccgactggag ggtattcctc ttccaggcac
     2041 cgagcaagga agaaatgctg tcctggatcc tcaggatcaa cctggtggca gccatcttct
     2101 ctgccccggc cttcccagcc gctgtcagct ccatgaagaa gttctgtcgg cccctgctgc
     2161 cctcctgcac cacccgcctc tgccaggagg agcaactgcg gtctcatgag aataagttga
     2221 ggcagctgac tgcggagctg gccgaacaca ggtgtcaccc agtcgagagg ggcatcaagt
     2281 ccaaggaggc cgaggagtac cggttgaagg agcactatct caccttcgag aaaagccgtt
     2341 atgagaccta tatccacctc ctggctatga aaatcaaagt gggctcagat gatctggagc
     2401 ggattgaggc ccggctggcc actctggaag gggatgaccc ttctctccgg aagacacatt
     2461 caagccctgc cctcagccag ggccatgtga ctggcagcaa aaccacaaag gatgccactg
     2521 ggcctgatac ttagctgaca tggatttgca gaccccaggg tgggcagatg tctccagtgg
     2581 ggtcagtgag cacaattcca gccaggggcc acttggacca agctccagtc agttgatggg
     2641 cagctagagg ggtgcagaaa gcctgtgggc ccaggagatg gagatgccgt ttgtggcgtt
     2701 gatctccttg cgtccttggg catctccggg catcagaccc tctccctggc ccttgttttc
     2761 ctctccacca tggagcctca ttttgtaggc cagttgtgtg catgctctag acaccacctc
     2821 gctggagaag ctggaagggc tgttgtcttc ccaggtcttt ctcttctcat caagctcctc
     2881 tcctcatctt ttttgtgtgt gagggcaggt cttgactcta ggtctcagct ggaaccccac
     2941 cctttctcct cctccttcct ctgagttgac cagcagcagg tctgccgacc accagcacca
     3001 tcctctcctc ccagcagcct ccagaaccat gcccaggtct cctgcctcac atcacaataa
     3061 tctgggaccc aggcttgtgc cctttcagtg taaagctgac tccatcacat gtgcatccac
     3121 ttcttttcat ccattgagat cacactgcct cctttttata cagacacaaa tatacatcta
     3181 taagaataat atatacataa ggaacccctg aaagatggtt ttggaactgg aatcagttag
     3241 aggatgaaat cagataaagg aaaagcctat tttggagctt cccctgttag gaaggatggc
     3301 tgcacctggc cccctggcat tcctgacgct ctaggaggga agggggaggc agtgctggcc
     3361 tcccttgccc tgtttttccc tcttccagct gacctgtgac ttatactgct cttaccgatg
     3421 atacttttgg aaaaaataga gcgtgtatgc accgccccgt ttgtcccatg gatatcctgg
     3481 ggtgtgagtc ggatgggacc acggccctgt ttatatttgg gtctttatgt tggtgctgcc
     3541 aggtctctga gctccagagg tggcctcttg gacagatcta ctgctatagg aataaaagac
     3601 actctgtctc gcaaatggct gcttgtcaac aagcccaaag atgcttgtcg gaggacggtt
     3661 atggaagccc ttaattcttg gttgtgggaa aaggtggaat gacaagttat tgattgtttt
     3721 tctgtcgcta tttctttcat ttgtctagtg aatcagaaag gcttagccaa ggccacatct
     3781 gggaagagtg gagaaatttg ccacttgacg atcacggatt agctagcacc tttaagccct
     3841 gcatttctcc aactgacaag tgggtggggg tgatggcaca ttcagtgtgg ctatgaagag
     3901 cgaatcctct ctattgttta aatagattac tgtagtttgg ccaggaattt ggcgtcagtg
     3961 gtaacacact tagttaataa aataagccag gcttgcaact aagtatctaa ctttacaggc
     4021 ccactcacat ttgaggcaag gggctattga gtatgtggag agatgtagtg atttaaattc
     4081 agattattta agttggatca gctgaagtgt gttttagacc caaaccatct ggccccttcg
     4141 ttttgctcag aggaagtaaa tgttcactta aatgaaattg aaaacgccat gtggcaccac
     4201 aaaagagctc tctgtacttt ccccatgctg cctcaaaagt tctgtgagtt tcggggtcag
     4261 tgtcccaccc ttcacttccc gagggcgggt gagtggagag cagagccagg agctctggca
     4321 gctgtggaca gatgtgcttc ctgagcatgg gttgtgcctc ccatcagtaa aaaaatgttt
     4381 agttcacttc cttaattgta taattattta tttgtaaatt atatacatgt actactgtac
     4441 taaaatatta tgtacattat aaaacataca caaaaataga aatttaaaaa agatgagatg
     4501 aaaataaatc taagtcaaag ttctaa
//
