LOCUS       NM_006239               3343 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens protein phosphatase with EF-hand domain 2 (PPEF2),
            mRNA.
ACCESSION   NM_006239
VERSION     NM_006239.3
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 3343)
  AUTHORS   Jing,S. and Yi,X.
  TITLE     Exome sequencing reveals PPEF2 variant associated with high myopia
  JOURNAL   Gene 897, 148091 (2024)
   PUBMED   38110044
  REMARK    GeneRIF: Exome sequencing reveals PPEF2 variant associated with
            high myopia.
REFERENCE   2  (bases 1 to 3343)
  AUTHORS   Kutuzov,M.A., Bennett,N. and Andreeva,A.V.
  TITLE     Protein phosphatase with EF-hand domains 2 (PPEF2) is a potent
            negative regulator of apoptosis signal regulating kinase-1 (ASK1)
  JOURNAL   Int J Biochem Cell Biol 42 (11), 1816-1822 (2010)
   PUBMED   20674765
  REMARK    GeneRIF: Data suggest that, despite structural divergence, PPEF and
            PP5 phosphatases may share common interacting partners and
            functions.
REFERENCE   3  (bases 1 to 3343)
  AUTHORS   Kutuzov,M.A., Solov'eva,O.V., Andreeva,A.V. and Bennett,N.
  TITLE     Protein Ser/Thr phosphatases PPEF interact with calmodulin
  JOURNAL   Biochem Biophys Res Commun 293 (3), 1047-1052 (2002)
   PUBMED   12051765
REFERENCE   4  (bases 1 to 3343)
  AUTHORS   Ramulu,P., Kennedy,M., Xiong,W.H., Williams,J., Cowan,M., Blesh,D.,
            Yau,K.W., Hurley,J.B. and Nathans,J.
  TITLE     Normal light response, photoreceptor integrity, and rhodopsin
            dephosphorylation in mice lacking both protein phosphatases with EF
            hands (PPEF-1 and PPEF-2)
  JOURNAL   Mol Cell Biol 21 (24), 8605-8614 (2001)
   PUBMED   11713293
REFERENCE   5  (bases 1 to 3343)
  AUTHORS   Sherman,P.M., Sun,H., Macke,J.P., Williams,J., Smallwood,P.M. and
            Nathans,J.
  TITLE     Identification and characterization of a conserved family of
            protein serine/threonine phosphatases homologous to Drosophila
            retinal degeneration C
  JOURNAL   Proc Natl Acad Sci U S A 94 (21), 11639-11644 (1997)
   PUBMED   9326663
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110615.3.
            
            On Nov 26, 2018 this sequence version replaced NM_006239.2.
            
            Summary: This gene encodes a member of the serine/threonine protein
            phosphatase with EF-hand motif family. The protein contains a
            protein phosphatase catalytic domain, and at least two EF-hand
            calcium-binding motifs in its C terminus. Although its substrate(s)
            is unknown, the encoded protein, which is expressed specifically in
            photoreceptors and the pineal, has been suggested to play a role in
            the visual system. This gene shares high sequence similarity with
            the Drosophila retinal degeneration C (rdgC) gene. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF023456.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286719.12/ ENSP00000286719.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-223               AC110615.3         129820-130042       c
            224-336             AC110615.3         123861-123973       c
            337-464             AC110615.3         119441-119568       c
            465-522             AC110615.3         119238-119295       c
            523-698             AC110615.3         117547-117722       c
            699-813             AC110615.3         115804-115918       c
            814-860             AC110615.3         114442-114488       c
            861-1027            AC110615.3         112184-112350       c
            1028-1064           AC110615.3         110756-110792       c
            1065-1214           AC110615.3         110516-110665       c
            1215-1601           AC110615.3         103877-104263       c
            1602-1787           AC110615.3         100717-100902       c
            1788-1930           AC110615.3         99615-99757         c
            1931-2037           AC110615.3         94903-95009         c
            2038-2201           AC110615.3         93779-93942         c
            2202-2289           AC110615.3         92030-92117         c
            2290-3343           AC110615.3         87457-88510         c
FEATURES             Location/Qualifiers
     source          1..3343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..3343
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /note="protein phosphatase with EF-hand domain 2"
                     /db_xref="GeneID:5470"
                     /db_xref="HGNC:HGNC:9244"
                     /db_xref="MIM:602256"
     exon            1..223
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            224..336
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..2543
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /EC_number="3.1.3.16"
                     /note="protein phosphatase 7, catalytic subunit, beta
                     isozyme; protein phosphatase with EF hands 2; protein
                     phosphatase, EF-hand calcium binding domain 2"
                     /codon_start=1
                     /product="serine/threonine-protein phosphatase with
                     EF-hands 2"
                     /protein_id="NP_006230.2"
                     /db_xref="CCDS:CCDS34013.1"
                     /db_xref="GeneID:5470"
                     /db_xref="HGNC:HGNC:9244"
                     /db_xref="MIM:602256"
                     /translation="MGSGTSTQHHFAFQNAERAFKAAALIQRWYRRYVARLEMRRRCT
                     WSIFQSIEYAGQQDQVKLHDFFSYLMDHFIPSSHNDRDFLTRIFTEDRFAQDSEMKKC
                     SDYESIEVPDSYTGPRLSFPLLPDHATALVEAFRLKQQLHARYVLNLLYETKKHLVQL
                     PNINRVSTCYSEEITVCGDLHGQLDDLIFIFYKNGLPSPERSYVFNGDFVDRGKDSVE
                     ILMILFAFMLVYPKEFHLNRGNHEDHMVNLRYGFTKEVMNKYKVHGKEILRTLQDVFC
                     WLPLATLIDEKVLILHGGVSDITDLELLDKIERSKIVSTMRCKTRQKSEKQMEEKRRA
                     NQKSSAQGPIPWFLPESRSLPSSPLRLGSYKAQKTSRSSSIPCSGSLDGRELSRQVRS
                     SVELELERCRQQAGLLVTGEKEEPSRSASEADSEAGELRKPTQEEWRQVVDILWSDPM
                     AQEGCKANTIRGGGCYFGPDVTQQLLQKYNMQFLIRSHECKPEGYEFCHNRKVLTIFS
                     ASNYYEVGSNRGAYVKLGPALTPHIVQYQANKVTHTLTMRQRISRVEESALRALREKL
                     FAHSSDLLSEFKKHDADKVGLITLSDWAAAVESVLHLGLPWRMLRPQLVNSSADNMLE
                     YKSWLKNLAKEQLSRENIQSSLLETLYRNRSNLETIFRIIDSDHSGFISLDEFRQTWK
                     LFSSHMNIDITDDCICDLARSIDFNKDGHIDINEFLEAFRLVEKSCPEGDASECPQAT
                     NAKDSGCSSPGAH"
     exon            337..464
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            465..522
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            523..698
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            699..813
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            814..860
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1027
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1064
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1214
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1601
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1787
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1930
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2037
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2201
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            2202..2289
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..3343
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3315..3320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /note="hexamer: AATAAA"
     polyA_site      3343
                     /gene="PPEF2"
                     /gene_synonym="PPP7CB"
                     /note="major polyA site"
ORIGIN      
        1 gtgaatactt ggccagggct gtgaatgtca ccattgcttt tcaggaagaa gacatggcag
       61 actagggctg caccttcttt atgggctctg taggtctgaa agaaatcaga tcagcctggg
      121 atccctcagc caactctgaa gacaggatgg ggatcacgcc tgcatgttaa agagatttct
      181 gccttgttgt gtctcatggt aaataaaaaa cccagcaaag aagcaaacag ctcactgtcc
      241 tctggatctg ctgcgtcctg caggagcatt gcgcttaaac tatgggaagc ggcacctcca
      301 cccaacatca ttttgctttc cagaatgcag agagagcctt caaggcagca gccctgatcc
      361 agagatggta ccggcgctac gtggcccgcc tggagatgag gcggcgttgc acctggagca
      421 tcttccagtc tatagaatat gctgggcagc aagaccaagt caagctccat gacttcttca
      481 gctatctcat ggatcacttc atccccagca gccacaacga cagggacttc ctgacccgca
      541 tattcactga ggacagattc gcccaggact ccgagatgaa gaaatgcagt gactatgaat
      601 ccatagaggt acccgacagt tacacggggc cacgcctctc cttcccactc ctgcctgacc
      661 atgcaactgc cctggtagaa gcattcagac tgaaacaaca gctccatgct cgctacgtct
      721 tgaacctttt gtatgaaacc aagaaacatc tggtacagct gccaaacatc aaccgggtct
      781 caacctgtta cagtgaggag atcacagtgt gtggagactt acatggccaa ttggatgact
      841 taatctttat attttataag aatggcctcc cgtcgccaga acggtcatat gtgttcaacg
      901 gtgactttgt ggatcgaggc aaggattcag tagagatcct gatgattctt tttgccttca
      961 tgctggttta ccccaaagag ttccatctta acagaggaaa ccatgaggac catatggtga
     1021 acttacgata tggcttcacc aaggaagtga tgaataaata caaggtacac gggaaggaaa
     1081 tactaagaac cctgcaagat gttttctgtt ggcttccact ggccactctg atagatgaga
     1141 aagttctaat tcttcatggt ggggtgtcag acataactga tctggagctt ttggacaaaa
     1201 tagagaggag caagatagtt tccaccatga ggtgcaaaac gagacagaag agtgagaagc
     1261 agatggagga gaagagaaga gccaaccaga agagctctgc acagggaccc atcccatggt
     1321 ttctccccga aagccgctct cttccctctt cgccccttcg gcttggctcc tacaaggccc
     1381 agaaaaccag caggtcctcc agcatcccct gcagcggttc cctggacggg cgggagctct
     1441 cccggcaggt gcggagctcc gtggaactgg agctagagcg gtgccggcag caagcaggcc
     1501 tcctggtgac cggagagaaa gaggagccct cccgctcagc ctcagaagca gactctgaag
     1561 ccggagagct gcggaagccc actcaggagg agtggaggca ggttgtagat atcctgtgga
     1621 gtgatcccat ggctcaagag ggctgcaagg ccaacactat tcgaggagga ggctgttatt
     1681 ttgggcctga tgtgacacaa cagttgctac aaaaatacaa catgcaattc ctgatccgtt
     1741 cacatgaatg caaacctgaa ggctatgaat tctgtcacaa ccgcaaggta ttaacaatct
     1801 tttctgcctc caactactat gaagttggca gcaacagagg ggcctatgtc aaactggggc
     1861 cagccctgac cccacatatt gtgcagtatc aagctaacaa ggtgacccac acactcacca
     1921 tgaggcaaag gattagcaga gtggaggagt cggctctgag agctctgagg gagaagctgt
     1981 ttgctcattc ttcagatctt ctcagtgaat ttaagaagca tgatgcagat aaagtcggtt
     2041 taatcacctt gagtgactgg gcagcagcgg tggagtctgt gttgcaccta ggactgccat
     2101 ggcggatgct gaggccacag ctggtgaaca gctcagcaga caacatgctg gagtacaagt
     2161 cttggctgaa gaacttggcc aaggaacaac tgagtcgcga gaacatacaa tcaagtttgc
     2221 tggaaacatt gtatcgaaac cgatccaacc tagagaccat ttttaggatc atagacagtg
     2281 atcattcagg gttcatctca ctggacgagt tcaggcagac ctggaagctg ttcagctctc
     2341 acatgaatat cgacattaca gatgactgca tctgtgacct tgctcggagc attgatttca
     2401 acaaagatgg ccacattgat atcaatgagt tcctggaggc cttccgcctt gtggagaaat
     2461 cctgcccaga gggcgatgcc tcagaatgcc cacaagctac aaatgctaaa gacagtggct
     2521 gcagcagtcc aggtgcacac taagaacagc ctggtcttca tcacccaaag tgcctcatag
     2581 gcaatgctca gcttctcact agactatctc ccttattctc catgtgaaac tttatgctga
     2641 aaatttacct atccatatgc atcagaatca cctgtgtatt tcagtgtgga ggggtgggtt
     2701 ggggtgttgt gtatgtatgt gttttaagta tatgagtgcc ccaaccccac ctcacaatct
     2761 tcacaaagta gaacttaggt atagtgtttt caaattctaa agtccacttc agttaagaac
     2821 cactgacaat gtaactctct cattgttttc attttatacg tttttttgag atggagtttc
     2881 tctcttgttg cccaggctgg agtgcattgg cgcgatctcg gctcaccgca aagtccgcct
     2941 cccaggcgat tctcctgcct cagcctcctg agtagctggg attacaggca tgcaccacca
     3001 caccaggcta attttgtatt tttagtagac acagggtttc tccatgttgg tcaggctggt
     3061 cttgaactcc caacctcagg tgatccaccc tcctcagcct cccaaagtgc tgggattaca
     3121 ggcatgagcc accgcaccca gcctatttta tactttttat ttattgtctt taacaatgtc
     3181 tattggtaaa ggaaagttat ttttaaaaat tgtattgtaa ttccatgacc caagcatatg
     3241 gattttcttc attatttact ttttcttact tgttactgta gtgtttatat aattttatgt
     3301 tctactttta aaaaaataaa ttaatatcta attgtaaacc ctt
//
