LOCUS       NM_001387263            2410 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens PAT1 homolog 2 (PATL2), transcript variant 6, mRNA.
ACCESSION   NM_001387263
VERSION     NM_001387263.1
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 2410)
  AUTHORS   Hu,H.Y., Zhang,G.H., Deng,W.F., Wei,T.Y., Feng,Z.K., Li,C.X.,
            Li,S.J., Liu,J.E. and Tian,Y.P.
  TITLE     Novel PATL2 variants cause female infertility with oocyte
            maturation defect
  JOURNAL   J Assist Reprod Genet 41 (8), 1965-1976 (2024)
   PUBMED   38954294
  REMARK    GeneRIF: Novel PATL2 variants cause female infertility with oocyte
            maturation defect.
REFERENCE   2  (bases 1 to 2410)
  AUTHORS   Ye,Z., Li,D., Niu,X., Yang,A., Pan,Z., Yu,R., Gu,H., Shi,R., Wu,L.,
            Xiang,Y., Hao,G., Kuang,Y., Chen,B., Wang,L., Sang,Q., Li,L.,
            Shi,J. and Li,Q.
  TITLE     Identification novel mutations and phenotypic spectrum expanding in
            PATL2 in infertile women with IVF/ICSI failure
  JOURNAL   J Assist Reprod Genet 41 (5), 1233-1243 (2024)
   PUBMED   38536595
  REMARK    GeneRIF: Identification novel mutations and phenotypic spectrum
            expanding in PATL2 in infertile women with IVF/ICSI failure.
REFERENCE   3  (bases 1 to 2410)
  AUTHORS   Tan,J., Liu,P.P., Cao,L.Y., Zou,Y., Zhang,Z.Y., Huang,J.L.,
            Zhang,Z.Q., Xu,D.F., Fan,L., Xia,L.Z., Xie,Q., Tian,L.F., Xin,C.L.,
            Li,Z.M. and Wu,Q.F.
  TITLE     Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells
            by Decreasing ADM2 Expression in Patients with PCOS
  JOURNAL   Reprod Sci 31 (4), 1034-1044 (2024)
   PUBMED   38087182
  REMARK    GeneRIF: Reduced PATL2 Impairs the Proliferation of Ovarian
            Granulosa Cells by Decreasing ADM2 Expression in Patients with
            PCOS.
REFERENCE   4  (bases 1 to 2410)
  AUTHORS   Huang,L., Wang,Y., Lu,F., Jin,Q., Song,G., Ji,J., Luo,L., Jin,R.
            and Tong,X.
  TITLE     Novel mutations in NLRP5 and PATL2 cause female infertility
            characterized by primarily oocyte maturation abnormality and
            consequent early embryonic arrest
  JOURNAL   J Assist Reprod Genet 39 (3), 711-718 (2022)
   PUBMED   35091966
  REMARK    GeneRIF: Novel mutations in NLRP5 and PATL2 cause female
            infertility characterized by primarily oocyte maturation
            abnormality and consequent early embryonic arrest.
REFERENCE   5  (bases 1 to 2410)
  AUTHORS   Peng,S.L., Wu,Q.F., Xie,Q., Tan,J. and Shu,K.Y.
  TITLE     PATL2 regulated the apoptosis of ovarian granulosa cells in
            patients with PCOS
  JOURNAL   Gynecol Endocrinol 37 (7), 629-634 (2021)
   PUBMED   34008465
  REMARK    GeneRIF: PATL2 regulated the apoptosis of ovarian granulosa cells
            in patients with PCOS.
REFERENCE   6  (bases 1 to 2410)
  AUTHORS   Christou-Kent,M., Kherraf,Z.E., Amiri-Yekta,A., Le Blevec,E.,
            Karaouzene,T., Conne,B., Escoffier,J., Assou,S., Guttin,A.,
            Lambert,E., Martinez,G., Boguenet,M., Fourati Ben Mustapha,S.,
            Cedrin Durnerin,I., Halouani,L., Marrakchi,O., Makni,M.,
            Latrous,H., Kharouf,M., Coutton,C., Thierry-Mieg,N., Nef,S.,
            Bottari,S.P., Zouari,R., Issartel,J.P., Ray,P.F. and Arnoult,C.
  TITLE     PATL2 is a key actor of oocyte maturation whose invalidation causes
            infertility in women and mice
  JOURNAL   EMBO Mol Med 10 (5) (2018)
   PUBMED   29661911
  REMARK    GeneRIF: Data indicate PAT1 homolog 2 protein (PATL2) mutation as a
            major cause of oocyte meiotic deficiency.
REFERENCE   7  (bases 1 to 2410)
  AUTHORS   Chen,B., Zhang,Z., Sun,X., Kuang,Y., Mao,X., Wang,X., Yan,Z.,
            Li,B., Xu,Y., Yu,M., Fu,J., Mu,J., Zhou,Z., Li,Q., Jin,L., He,L.,
            Sang,Q. and Wang,L.
  TITLE     Biallelic Mutations in PATL2 Cause Female Infertility Characterized
            by Oocyte Maturation Arrest
  JOURNAL   Am J Hum Genet 101 (4), 609-615 (2017)
   PUBMED   28965849
  REMARK    GeneRIF: Nonsense mutation in PATL2 gene is associated with Female
            Infertility.
REFERENCE   8  (bases 1 to 2410)
  AUTHORS   Maddirevula,S., Coskun,S., Alhassan,S., Elnour,A., Alsaif,H.S.,
            Ibrahim,N., Abdulwahab,F., Arold,S.T. and Alkuraya,F.S.
  TITLE     Female Infertility Caused by Mutations in the Oocyte-Specific
            Translational Repressor PATL2
  JOURNAL   Am J Hum Genet 101 (4), 603-608 (2017)
   PUBMED   28965844
  REMARK    GeneRIF: Mutation in PATL2 gene is associated with Female
            Infertility.
REFERENCE   9  (bases 1 to 2410)
  AUTHORS   Ozgur,S., Chekulaeva,M. and Stoecklin,G.
  TITLE     Human Pat1b connects deadenylation with mRNA decapping and controls
            the assembly of processing bodies
  JOURNAL   Mol Cell Biol 30 (17), 4308-4323 (2010)
   PUBMED   20584987
REFERENCE   10 (bases 1 to 2410)
  AUTHORS   Scheller,N., Resa-Infante,P., de la Luna,S., Galao,R.P.,
            Albrecht,M., Kaestner,L., Lipp,P., Lengauer,T., Meyerhans,A. and
            Diez,J.
  TITLE     Identification of PatL1, a human homolog to yeast P body component
            Pat1
  JOURNAL   Biochim Biophys Acta 1773 (12), 1786-1792 (2007)
   PUBMED   17936923
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC025270.6 and AC009996.7.
            
            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 :: SRR18074968.725802.1,
                                           SRR14038193.4116086.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682850.1/ ENSP00000508024.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-304               AC025270.6         121592-121895       c
            305-363             AC025270.6         121443-121501       c
            364-482             AC025270.6         120668-120786       c
            483-573             AC009996.7         162301-162391       c
            574-779             AC009996.7         161312-161517       c
            780-860             AC009996.7         159976-160056       c
            861-1003            AC009996.7         159061-159203       c
            1004-1072           AC009996.7         158214-158282       c
            1073-1214           AC009996.7         157841-157982       c
            1215-1335           AC009996.7         155793-155913       c
            1336-1433           AC009996.7         155603-155700       c
            1434-1487           AC009996.7         155336-155389       c
            1488-1621           AC009996.7         155106-155239       c
            1622-1781           AC009996.7         154806-154965       c
            1782-1922           AC009996.7         154168-154308       c
            1923-2020           AC009996.7         152932-153029       c
            2021-2170           AC009996.7         152218-152367       c
            2171-2410           AC009996.7         151558-151797       c
FEATURES             Location/Qualifiers
     source          1..2410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2410
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /note="PAT1 homolog 2"
                     /db_xref="GeneID:197135"
                     /db_xref="HGNC:HGNC:33630"
                     /db_xref="MIM:614661"
     exon            1..304
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            305..363
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            364..482
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            483..573
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     CDS             558..2189
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /note="isoform 1 is encoded by transcript variant 6;
                     protein PAT1 homolog 2; PAT1-like protein 2; protein PAT1
                     homolog a; protein associated with topoisomerase II
                     homolog 2"
                     /codon_start=1
                     /product="protein PAT1 homolog 2 isoform 1"
                     /protein_id="NP_001374192.1"
                     /db_xref="CCDS:CCDS45253.1"
                     /db_xref="GeneID:197135"
                     /db_xref="HGNC:HGNC:33630"
                     /db_xref="MIM:614661"
                     /translation="MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEE
                     DLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQT
                     LDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQR
                     ILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYY
                     QEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCF
                     SPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQ
                     QSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLA
                     ITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTV
                     VLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLA
                     EPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY"
     exon            574..779
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            780..860
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            861..1003
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1072
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1214
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1335
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1433
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1487
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1621
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1781
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1782..1922
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2020
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..2170
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2410
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2390..2395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /note="hexamer: ATTAAA"
     polyA_site      2410
                     /gene="PATL2"
                     /gene_synonym="hPat1a; OOMD4; OZEMA4; Pat1a"
                     /note="major polyA site"
ORIGIN      
        1 gctgtctgta catcggcgcc ctccgatctg gggtgcgcgc cccagcttgg gacaccgggc
       61 gctcattcta ggacttcagg ctggaggcac attaaggctg ccccctcgct ttgcagactg
      121 gccccagaga tgctaagtga cttgctaatg gtgccccagc cagttaactg ctcggacctg
      181 catttttcat tcgagaaaac ggaaacccag aagattaaga tctttgaatg ctacctagca
      241 gaaggagaac ttctgtttat aactacagct tgggaattcc ctgcagggtt tctccattct
      301 ctgggaaaaa gtgtttggaa agttctgtgc caagaagttc ctccctatgt ccttgctgtt
      361 taggcttttg ataatcttta ttgtggaggc catgcctaaa ctaagaaaat gcaatactct
      421 ccatggacct aatgaaatga gataatgcac aagagagagc ctcccacaat gcctggtaca
      481 tagtttacct tccagaggct ggcaatgctg tttcactgga ggacacggct aagaaggaag
      541 tccaccagcc tgccaagatg aattgccttg aagggccagg taagacctgt ggccccttgg
      601 cttctgagga ggagctggtg tctgcctgcc agttggaaaa agaagaagag aatgaagggg
      661 aggaggagga agaggaggag gacgaggagg atctggaccc agatctggac ccagacctag
      721 aggaggaaga gaatgatctt ggggatccag ctgtacttgg tgctgtccac aacacccaga
      781 gagctctgct tagctcccct ggagtcaagg cccctggtat gctgggaatg tcacttgcct
      841 ccttgcattt tctgtggcag accttggact acctgtcgcc catccctttc tggcctacat
      901 ttcccagcac cagctctcca gcacagcact ttggacctcg gctgccctca ccagacccaa
      961 ctctcttctg cagcctgctg acctcgtggc cccctaggtt cagtcatctg acccagctcc
     1021 accctcggca ccaacgaatc ttgcagcagc agcagcatag tcaaacacca agtcccccag
     1081 ccaagaagcc ttggtctcag cagccagacc cctatgctaa cctcatgacc agaaaagaga
     1141 aggactgggt gataaaagtg cagatggtgc agctgcagag tgcaaaaccc cgcctggatg
     1201 actactatta ccaggaatat taccagaagc tagagaagaa gcaggcagac gaagagctac
     1261 ttggacgaag aaaccgggtt gagtccctca agctggtaac gccttacatt ccgaaggcag
     1321 aggcttatga gtccgtggtc cgaatcgagg gttccctggg ccaggtagct gtgtcgacat
     1381 gcttcagccc tcgccgagct attgatgcgg taccccatgg aactcaagag caggatatag
     1441 aagctgcaag cagtcagagg cttcgggtat tataccggat tgagaagatg ttccttcagt
     1501 tactagaaat agaggaaggc tggaagtata ggcctccacc gccctgcttt tctgagcagc
     1561 aaagcaacca ggttgagaag ctcttccaga ccttaaagac ccaggagcag aacaacctgg
     1621 aagaggcagc agatggcttc ctgcaggtgc tctctgtgag gaaggggaag gccctggtgg
     1681 cccggctgct ccccttcctg ccccaggatc aggctgttac cattcttttg gctatcaccc
     1741 accatctgcc cctcctggtc cggagggatg tggctgatca ggccctacaa atgttattca
     1801 aacctctggg caaatgtatt agtcacttga ccctccacga actcctccaa ggacttcagg
     1861 gattaacgct gttgccacct ggctcctcag agcggccagt caccgtggtg cttcagaatc
     1921 agtttggaat atctttgctc tatgccctgc tgagccatgg ggagcaactg gtatcgctgc
     1981 attcttccct agaggaaccc aacagtgacc atacagcttg gacagacatg gtggttctga
     2041 ttgcctggga gatagcccaa atgcctacag cctctctggc agaaccccta gctttcccca
     2101 gcaacctact tcccctgttc tgtcaccacg tggacaaaca attggttcag cagctggagg
     2161 ccaggatgga gtttgcctgg atttactgat ctgtttgttc tggaatacgt gtatgtggga
     2221 agttgaatca tcagacacta gctacataga ctatgtttac agggatccag agagtctgaa
     2281 gacatttctt atgcctttat atattggaga acccttcccc attttcatat cctttcttca
     2341 aaaatctaaa tgatgtgcct aaaaataaga catggcataa taaggtataa ttaaagagat
     2401 aatagaatga
//
