LOCUS       NM_199321               2257 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript
            variant 2, mRNA.
ACCESSION   NM_199321
VERSION     NM_199321.3
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 2257)
  AUTHORS   Ghanami Gashti,N., Sadighi Gilani,M.A., Jabari,A., Qasemi,M.,
            Feizollahi,N. and Abbasi,M.
  TITLE     The Germ Cell-Specific Markers ZPBP2 and PGK2 in Testicular
            Biopsies Can Predict the Presence as well as the Quality of Sperm
            in Non-obstructive Azoospermia Patients
  JOURNAL   Reprod Sci 28 (5), 1466-1475 (2021)
   PUBMED   33507524
  REMARK    GeneRIF: The Germ Cell-Specific Markers ZPBP2 and PGK2 in
            Testicular Biopsies Can Predict the Presence as well as the Quality
            of Sperm in Non-obstructive Azoospermia Patients.
REFERENCE   2  (bases 1 to 2257)
  AUTHORS   Chang,M.L., Moussette,S., Gamero-Estevez,E., Galvez,J.H.,
            Chiwara,V., Gupta,I.R., Ryan,A.K. and Naumova,A.K.
  TITLE     Regulatory interaction between the ZPBP2-ORMDL3/Zpbp2-Ormdl3 region
            and the circadian clock
  JOURNAL   PLoS One 14 (9), e0223212 (2019)
   PUBMED   31560728
  REMARK    GeneRIF: Study of diurnal expression profiles of ZPBP2/Zpbp2,
            gasdermin B, and ORMDL3/Ormdl3 in human and mouse tissues revealed
            that Ormdl3 and Zpbp2 were controlled by the circadian clock in a
            tissue-specific fashion provided the first evidence that
            disease-associated genes Zpbp2 and Ormdl3 are regulated by
            circadian rhythms and the Zpbp2 region influences expression of the
            core clock gene Nr1d1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2257)
  AUTHORS   Moussette,S., Al Tuwaijri,A., Kohan-Ghadr,H.R., Elzein,S.,
            Farias,R., Berube,J., Ho,B., Laprise,C., Goodyer,C.G., Rousseau,S.
            and Naumova,A.K.
  TITLE     Role of DNA methylation in expression control of the IKZF3-GSDMA
            region in human epithelial cells
  JOURNAL   PLoS One 12 (2), e0172707 (2017)
   PUBMED   28241063
  REMARK    GeneRIF: modest changes (8-13%) in promoter methylation levels of
            ZPBP2 and GSDMA may cause substantial changes in RNA levels and
            allelic expression of ZPBP2 and ORMDL3 is mediated by DNA
            methylation
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2257)
  AUTHORS   Al Tuwaijri,A., Gagne-Ouellet,V., Madore,A.M., Laprise,C. and
            Naumova,A.K.
  TITLE     Local genotype influences DNA methylation at two asthma-associated
            regions, 5q31 and 17q21, in a founder effect population
  JOURNAL   J Med Genet 53 (4), 232-241 (2016)
   PUBMED   26671913
  REMARK    GeneRIF: The local genotype influences methylation levels at
            SLC22A5 and ZPBP2 promoters independently of the asthma status.
            Further studies are necessary to confirm the relationship between
            GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males
            separately.
REFERENCE   5  (bases 1 to 2257)
  AUTHORS   Li,L., Wang,W., Cui,H., Zheng,X., Chen,Y., Sheng,Y., Gao,J.,
            Shen,C., Zeng,M., Zhang,T., Sun,L. and Zhang,X.
  TITLE     The allele T of rs10852936 confers risk for early-onset psoriasis
  JOURNAL   J Dermatol Sci 77 (2), 129-131 (2015)
   PUBMED   25620289
  REMARK    GeneRIF: The allele T of rs10852936 surrounding the IKZF3-ZPBP2
            locus confers risk for early-onset psoriasis.
REFERENCE   6  (bases 1 to 2257)
  AUTHORS   Franke,A., McGovern,D.P., Barrett,J.C., Wang,K.,
            Radford-Smith,G.L., Ahmad,T., Lees,C.W., Balschun,T., Lee,J.,
            Roberts,R., Anderson,C.A., Bis,J.C., Bumpstead,S., Ellinghaus,D.,
            Festen,E.M., Georges,M., Green,T., Haritunians,T., Jostins,L.,
            Latiano,A., Mathew,C.G., Montgomery,G.W., Prescott,N.J.,
            Raychaudhuri,S., Rotter,J.I., Schumm,P., Sharma,Y., Simms,L.A.,
            Taylor,K.D., Whiteman,D., Wijmenga,C., Baldassano,R.N., Barclay,M.,
            Bayless,T.M., Brand,S., Buning,C., Cohen,A., Colombel,J.F.,
            Cottone,M., Stronati,L., Denson,T., De Vos,M., D'Inca,R.,
            Dubinsky,M., Edwards,C., Florin,T., Franchimont,D., Gearry,R.,
            Glas,J., Van Gossum,A., Guthery,S.L., Halfvarson,J.,
            Verspaget,H.W., Hugot,J.P., Karban,A., Laukens,D., Lawrance,I.,
            Lemann,M., Levine,A., Libioulle,C., Louis,E., Mowat,C., Newman,W.,
            Panes,J., Phillips,A., Proctor,D.D., Regueiro,M., Russell,R.,
            Rutgeerts,P., Sanderson,J., Sans,M., Seibold,F., Steinhart,A.H.,
            Stokkers,P.C., Torkvist,L., Kullak-Ublick,G., Wilson,D.,
            Walters,T., Targan,S.R., Brant,S.R., Rioux,J.D., D'Amato,M.,
            Weersma,R.K., Kugathasan,S., Griffiths,A.M., Mansfield,J.C.,
            Vermeire,S., Duerr,R.H., Silverberg,M.S., Satsangi,J.,
            Schreiber,S., Cho,J.H., Annese,V., Hakonarson,H., Daly,M.J. and
            Parkes,M.
  TITLE     Genome-wide meta-analysis increases to 71 the number of confirmed
            Crohn's disease susceptibility loci
  JOURNAL   Nat Genet 42 (12), 1118-1125 (2010)
   PUBMED   21102463
REFERENCE   7  (bases 1 to 2257)
  AUTHORS   Liu,X., Invernizzi,P., Lu,Y., Kosoy,R., Lu,Y., Bianchi,I.,
            Podda,M., Xu,C., Xie,G., Macciardi,F., Selmi,C., Lupoli,S.,
            Shigeta,R., Ransom,M., Lleo,A., Lee,A.T., Mason,A.L., Myers,R.P.,
            Peltekian,K.M., Ghent,C.N., Bernuzzi,F., Zuin,M., Rosina,F.,
            Borghesio,E., Floreani,A., Lazzari,R., Niro,G., Andriulli,A.,
            Muratori,L., Muratori,P., Almasio,P.L., Andreone,P., Margotti,M.,
            Brunetto,M., Coco,B., Alvaro,D., Bragazzi,M.C., Marra,F.,
            Pisano,A., Rigamonti,C., Colombo,M., Marzioni,M., Benedetti,A.,
            Fabris,L., Strazzabosco,M., Portincasa,P., Palmieri,V.O.,
            Tiribelli,C., Croce,L., Bruno,S., Rossi,S., Vinci,M., Prisco,C.,
            Mattalia,A., Toniutto,P., Picciotto,A., Galli,A., Ferrari,C.,
            Colombo,S., Casella,G., Morini,L., Caporaso,N., Colli,A.,
            Spinzi,G., Montanari,R., Gregersen,P.K., Heathcote,E.J.,
            Hirschfield,G.M., Siminovitch,K.A., Amos,C.I., Gershwin,M.E. and
            Seldin,M.F.
  TITLE     Genome-wide meta-analyses identify three loci associated with
            primary biliary cirrhosis
  JOURNAL   Nat Genet 42 (8), 658-660 (2010)
   PUBMED   20639880
REFERENCE   8  (bases 1 to 2257)
  AUTHORS   Verlaan,D.J., Berlivet,S., Hunninghake,G.M., Madore,A.M.,
            Lariviere,M., Moussette,S., Grundberg,E., Kwan,T., Ouimet,M.,
            Ge,B., Hoberman,R., Swiatek,M., Dias,J., Lam,K.C., Koka,V.,
            Harmsen,E., Soto-Quiros,M., Avila,L., Celedon,J.C., Weiss,S.T.,
            Dewar,K., Sinnett,D., Laprise,C., Raby,B.A., Pastinen,T. and
            Naumova,A.K.
  TITLE     Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3
            locus associated with the risk of asthma and autoimmune disease
  JOURNAL   Am J Hum Genet 85 (3), 377-393 (2009)
   PUBMED   19732864
  REMARK    GeneRIF: The disease-linked haplotype and putative causal DNA
            variants of ZPBP2/GSDMB/ORMDL3 locus via a combination of genetic
            and functional analyses, were identified.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2257)
  AUTHORS   Lin,Y.N., Roy,A., Yan,W., Burns,K.H. and Matzuk,M.M.
  TITLE     Loss of zona pellucida binding proteins in the acrosomal matrix
            disrupts acrosome biogenesis and sperm morphogenesis
  JOURNAL   Mol Cell Biol 27 (19), 6794-6805 (2007)
   PUBMED   17664285
  REMARK    GeneRIF: Data show that loss of zona pellucida binding proteins 1
            and 2 in the acrosomal matrix disrupts acrosome biogenesis and
            sperm morphogenesis.
            Erratum:[Mol Cell Biol. 2008 Apr;28(7):2495]
REFERENCE   10 (bases 1 to 2257)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of human ZPBP-like gene in
            silico
  JOURNAL   Int J Mol Med 12 (3), 399-404 (2003)
   PUBMED   12883658
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB056422.1, AY251603.1 and BC043152.2.
            
            On Jun 2, 2019 this sequence version replaced NM_199321.2.
            
            Transcript Variant: This variant (2) has an additional in-frame
            exon in the 5' coding region, compared to variant 1, which results
            in a longer protein (isoform 2), compared to isoform 1.
            
            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 :: AK292383.1, AY251603.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348931.9/ ENSP00000335384.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DB056422.1         39-55
            18-1443             AY251603.1         1-1426
            1444-2257           BC043152.2         1364-2177
FEATURES             Location/Qualifiers
     source          1..2257
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.1"
     gene            1..2257
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="zona pellucida binding protein 2"
                     /db_xref="GeneID:124626"
                     /db_xref="HGNC:HGNC:20678"
                     /db_xref="MIM:608499"
     exon            1..205
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..1170
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; ZPBP-like protein"
                     /codon_start=1
                     /product="zona pellucida-binding protein 2 isoform 2
                     precursor"
                     /protein_id="NP_955353.1"
                     /db_xref="CCDS:CCDS11352.1"
                     /db_xref="GeneID:124626"
                     /db_xref="HGNC:HGNC:20678"
                     /db_xref="MIM:608499"
                     /translation="MMRTCVLLSAVLWCLTGVQCPRFTLFNKKGFIYGKTGQPDKIYV
                     ELHQNSPVLICMDFKLSKKEIVDPTYLWIGPNEKTLTGNNRINITETGQLMVKDFLEP
                     LSGLYTCTLSYKTVKAETQEEKTVKKRYDFMVFAYREPDYSYQMAVRFTTRSCIGRYN
                     DVFFRVLKKILDSLISDLSCHVIEPSYKCHSVEIPEHGLIHELFIAFQVNPFAPGWKG
                     ACNGSVDCEDTTNHNILQARDRIEDFFRSQAYIFYHNFNKTLPAMHFVDHSLQVVRLD
                     SCRPGFGKNERLHSNCASCCVVCSPATFSPDVNVTCQTCVSVLTYGAKSCPQTSNKNQ
                     QYED"
     exon            206..271
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            272..397
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            398..559
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            560..778
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            779..861
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1042
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..2257
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1485..1490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="hexamer: AATAAA"
     polyA_site      1508
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="major polyA site"
     regulatory      2239..2244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="hexamer: AATAAA"
     polyA_site      2257
                     /gene="ZPBP2"
                     /gene_synonym="ZPBPL"
                     /note="major polyA site"
ORIGIN      
        1 gcgcgtccgc tcccgccgtt gcgacggacg ggtaggggag gcgaccccgg cgttctgctc
       61 cgcactgtgg aggaggtggg gaggtgttgg gccagggctg aggtaggagg gagtctgtcc
      121 ctcgacgcct cctgcgacgc cagcccctga gcgatgatgc gaacgtgcgt cctactctcc
      181 gcggtgctct ggtgcctcac aggagtccaa tgcccgcgtt ttaccttatt caataagaag
      241 ggcttcattt atggcaagac aggacagcca gacaaaatat atgtagagtt acatcaaaat
      301 agtccagtcc ttatctgtat ggattttaag ctttctaaaa aagaaatagt ggaccccacc
      361 tacttatgga ttgggcctaa tgaaaagacg ttaacaggaa ataatagaat aaatataact
      421 gaaactggac agctgatggt gaaagatttt ttggagcctt tgtctggact ttacacatgt
      481 actctttctt ataagactgt taaagcagaa actcaagaag aaaaaacagt caaaaagaga
      541 tatgacttta tggtctttgc ctatcgggaa cctgattatt catatcagat ggctgtacgt
      601 tttaccacaa ggtcttgtat agggagatac aatgatgtat tctttagagt gctgaagaaa
      661 atcttggata gtctaatttc tgatttgtca tgccatgtca tagagccatc atataaatgc
      721 cattctgttg aaattccaga acatggcctc atacatgagc tatttatagc atttcaagtt
      781 aatccttttg cgccggggtg gaaaggtgct tgcaatggat ctgttgactg tgaagatacc
      841 actaatcata atatcctcca ggcaagagat cgaatagaag acttttttcg gagccaagca
      901 tatattttct accataactt taataaaact ctaccagcaa tgcattttgt ggaccacagt
      961 ttgcaagtag tacgtctgga tagctgtcga ccaggctttg gaaaaaatga acgtctacac
     1021 agtaattgcg ctagctgttg tgtggtttgt agtcctgcga cttttagtcc tgatgttaat
     1081 gtaacttgtc agacctgcgt ttccgtcctt acctatggag ctaaatcttg cccacaaact
     1141 tcaaacaaaa atcagcaata tgaagattag aggtgaaagc attgttactt acttgtggaa
     1201 gtcggggaca taagatgatt ttcacatccc agagcatcat agatagttcc attaagtaaa
     1261 atcagtaaga ccaaaccact ggaaaacatg cattttggaa actttaaaat aaatggttaa
     1321 catggcattt ctaagaaggc atttaatcca gtatctctag tgtacaaagg aaacttgaag
     1381 ttttaatgga ttatttttaa tgaaatgttt tattgtttac aaacggtatg ttgctgtgta
     1441 cctaagagta tagtaaggtc aagaagagta tcaaagtata ataaaataaa aattgtatac
     1501 tctccatata tttatttgtt tggaatcact cttgtgtgat ataaaggcgt gtatattatc
     1561 tttgtattag aaccaaaaaa gttatttatt ttggtcccta tgattttatt ttttaagata
     1621 aattaatata ctgtattttt taaagtatag gtttaggttt acagaataat agagcagata
     1681 atatatagag ttccatacac ccactgcacc ccataccctc attcctcctt acacaatttc
     1741 tcctattatt aagatggtgc attagtgtgg cacatttgtt acaaatgatg aaccaatatt
     1801 aatttattat taattatagc ccatagttca cattaagatt cattgtgttg taaggttatg
     1861 tgggttttga caaattcata atggcatgtg tgcaccattg cagtctcata cagaatagtt
     1921 tcaccaccct caaaatcctg tgcttcactt atttatccct cccgccgtgc cctggcaacc
     1981 actgatcttt ttactgtctc tacagttttg ccttttccaa aatgtcatgt agttggttgg
     2041 agttatgcag tatgtagact ttttagactg gcttctttca cttagcaata tgcatttaag
     2101 gttcctccat gtctttttgt gacttgatag ctcatttttt attgctgaat aatgttcatt
     2161 gtatggatat agcatagtat gtttatccat tcgcccatta aaggaaatct tgattgcttc
     2221 cagttttcag tgattaaaaa taaagccgct ataaaca
//
