LOCUS       NM_001388493            3921 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens deleted in azoospermia 2 (DAZ2), transcript variant 4,
            mRNA.
ACCESSION   NM_001388493
VERSION     NM_001388493.1
KEYWORDS    RefSeq.
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 3921)
  AUTHORS   Zhang,W., Chen,W., Cui,Y., Wen,L., Yuan,Q., Zhou,F., Qiu,Q.,
            Sun,M., Li,Z. and He,Z.
  TITLE     Direct reprogramming of human Sertoli cells into male germline stem
            cells with the self-renewal and differentiation potentials via
            overexpressing DAZL/DAZ2/BOULE genes
  JOURNAL   Stem Cell Reports 16 (11), 2798-2812 (2021)
   PUBMED   34653405
  REMARK    GeneRIF: Direct reprogramming of human Sertoli cells into male
            germline stem cells with the self-renewal and differentiation
            potentials via overexpressing DAZL/DAZ2/BOULE genes.
REFERENCE   2  (bases 1 to 3921)
  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   3  (bases 1 to 3921)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   4  (bases 1 to 3921)
  AUTHORS   Ghorbel,M., Baklouti-Gargouri,S., Keskes,R., Chakroun,N.,
            Sellami,A., Fakhfakh,F. and Ammar-Keskes,L.
  TITLE     gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male
            infertility in Tunisian population
  JOURNAL   Gene 592 (1), 29-35 (2016)
   PUBMED   27457284
  REMARK    GeneRIF: study reported a new type of AZFc deletion
            (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is
            the result of 2 successive events favored by the unstable structure
            of AZFc region; also demonstrated that this deletion constitutes a
            relative high-risk factor for male infertility in Tunisian
            population
REFERENCE   5  (bases 1 to 3921)
  AUTHORS   Zhang,Y., Li,M., Xiao,F., Teng,R., Zhang,C., Lan,A., Gu,K., Li,J.,
            Wang,D., Li,H., Jiang,L., Zeng,S., He,M., Huang,Y., Guo,P.,
            Zhang,X. and Yang,X.
  TITLE     Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on
            male infertility
  JOURNAL   Gene 571 (1), 9-16 (2015)
   PUBMED   26232607
  REMARK    GeneRIF: Studies indicate that partial RNA-binding proteins DAZ1/2
            deletion was associated wih male infertility, but partial
            RNA-binding proteins DAZ3/4 deletion was not associated with male
            infertility.
            Review article
REFERENCE   6  (bases 1 to 3921)
  AUTHORS   Saxena,R., de Vries,J.W., Repping,S., Alagappan,R.K., Skaletsky,H.,
            Brown,L.G., Ma,P., Chen,E., Hoovers,J.M. and Page,D.C.
  TITLE     Four DAZ genes in two clusters found in the AZFc region of the
            human Y chromosome
  JOURNAL   Genomics 67 (3), 256-267 (2000)
   PUBMED   10936047
REFERENCE   7  (bases 1 to 3921)
  AUTHORS   Yen,P.H., Chai,N.N. and Salido,E.C.
  TITLE     The human DAZ genes, a putative male infertility factor on the Y
            chromosome, are highly polymorphic in the DAZ repeat regions
  JOURNAL   Mamm Genome 8 (10), 756-759 (1997)
   PUBMED   9321470
REFERENCE   8  (bases 1 to 3921)
  AUTHORS   Yen,P.H., Chai,N.N. and Salido,E.C.
  TITLE     The human autosomal gene DAZLA: testis specificity and a candidate
            for male infertility
  JOURNAL   Hum Mol Genet 5 (12), 2013-2017 (1996)
   PUBMED   8968756
REFERENCE   9  (bases 1 to 3921)
  AUTHORS   Saxena,R., Brown,L.G., Hawkins,T., Alagappan,R.K., Skaletsky,H.,
            Reeve,M.P., Reijo,R., Rozen,S., Dinulos,M.B., Disteche,C.M. and
            Page,D.C.
  TITLE     The DAZ gene cluster on the human Y chromosome arose from an
            autosomal gene that was transposed, repeatedly amplified and pruned
  JOURNAL   Nat Genet 14 (3), 292-299 (1996)
   PUBMED   8896558
REFERENCE   10 (bases 1 to 3921)
  AUTHORS   Reijo,R., Lee,T.Y., Salo,P., Alagappan,R., Brown,L.G.,
            Rosenberg,M., Rozen,S., Jaffe,T., Straus,D., Hovatta,O. et al.
  TITLE     Diverse spermatogenic defects in humans caused by Y chromosome
            deletions encompassing a novel RNA-binding protein gene
  JOURNAL   Nat Genet 10 (4), 383-393 (1995)
   PUBMED   7670487
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC053490.2, AC007039.6 and
            AC006983.4.
            
            Summary: This gene is a member of the DAZ gene family and is a
            candidate for the human Y-chromosomal azoospermia factor (AZF). Its
            expression is restricted to premeiotic germ cells, particularly in
            spermatogonia. It encodes an RNA-binding protein that is important
            for spermatogenesis. Four copies of this gene are found on
            chromosome Y within palindromic duplications; one pair of genes is
            part of the P2 palindrome and the second pair is part of the P1
            palindrome. Each gene contains a 2.4 kb repeat including a 72-bp
            exon, called the DAZ repeat; the number of DAZ repeats is variable
            and there are several variations in the sequence of the DAZ repeat.
            Each copy of the gene also contains a 10.8 kb region that may be
            amplified; this region includes five exons that encode an RNA
            recognition motif (RRM) domain. This gene contains one copy of the
            10.8 kb repeat. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK302398.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AC053490.2         83886-84096
            212-358             AC053490.2         90697-90843
            359-450             AC053490.2         91118-91209
            451-502             AC053490.2         91770-91821
            503-566             AC053490.2         92258-92321
            567-706             AC053490.2         92411-92550
            707-778             AC053490.2         93951-94022
            779-850             AC053490.2         96394-96465
            851-922             AC053490.2         98785-98856
            923-994             AC053490.2         101181-101252
            995-1066            AC007039.6         331-402
            1067-1138           AC007039.6         2727-2798
            1139-1210           AC007039.6         5111-5182
            1211-1282           AC007039.6         7507-7578
            1283-1354           AC007039.6         9884-9955
            1355-1426           AC006983.4         132-203
            1427-1498           AC006983.4         9921-9992
            1499-1570           AC006983.4         12305-12376
            1571-1642           AC006983.4         14690-14761
            1643-1714           AC006983.4         17074-17145
            1715-1786           AC006983.4         19458-19529
            1787-1858           AC006983.4         21842-21913
            1859-1930           AC006983.4         24227-24298
            1931-1965           AC006983.4         25043-25077
            1966-2064           AC006983.4         29652-29750
            2065-3921           AC006983.4         33714-35570
FEATURES             Location/Qualifiers
     source          1..3921
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.223"
     gene            1..3921
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /note="deleted in azoospermia 2"
                     /db_xref="GeneID:57055"
                     /db_xref="HGNC:HGNC:15964"
                     /db_xref="MIM:400026"
     exon            1..211
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..2029
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /note="isoform 4 is encoded by transcript variant 4;
                     deleted in azoospermia protein 2"
                     /codon_start=1
                     /product="deleted in azoospermia protein 2 isoform 4"
                     /protein_id="NP_001375422.1"
                     /db_xref="GeneID:57055"
                     /db_xref="HGNC:HGNC:15964"
                     /db_xref="MIM:400026"
                     /translation="MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFV
                     GGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIH
                     FHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNP
                     VTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPA
                     YPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTA
                     GYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQ
                     AFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPV
                     QVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPV
                     YNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYP
                     SSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGY
                     QFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD"
     exon            212..358
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            359..450
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            451..502
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            503..566
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            567..706
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            707..778
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            779..850
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            851..922
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            923..994
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1066
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1138
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1210
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1282
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1354
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1426
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1498
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1570
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1642
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1714
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1786
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..1858
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1859..1930
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..1965
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2064
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..3921
                     /gene="DAZ2"
                     /gene_synonym="pDP1678"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtcggcctg cgctcctcag cctggcggtt ctacctccga gggttcgccc gcccttggtt
       61 ttccttacac cttagccttt ggctcctttg accactcgaa gccccacagc gtgttccagc
      121 ggacttcacc agcagaccca gaagtggtgg gtgaaacact gcctctgttc ctccttgagc
      181 ctgtcgggag ctgctgcctg ccaccaccat gtctgctgca aatcctgaga ctccaaactc
      241 aaccatctcc agagaggcca gcacccagtc ttcatcagct gcagctagcc aaggctgggt
      301 gttaccagaa ggcaaaatcg tgccaaacac tgtttttgtt ggtggaattg atgctaggat
      361 ggatgaaact gagattggaa gctgctttgg tagatacggt tcagtgaaag aagtgaagat
      421 aatcacgaat cgaactggtg tgtccaaagg ctatggattt gtttcgtttg ttaatgacgt
      481 ggatgtccag aagatagtag gatcacagat acatttccat ggtaaaaagc tgaagctggg
      541 ccctgcaatc aggaaacaaa agttatgtgc tcgtcatgtg cagccacgtc ctttggtagt
      601 taatcctcct cctccaccac agtttcagaa cgtctggcgg aatccaaaca ctgaaaccta
      661 cctgcagccc caaatcacgc cgaatcctgt aactcagcac gttcaggctt attctgctta
      721 tccacattca ccaggtcagg tcatcactgg atgtcagttg cttgtatata attatcagga
      781 atatcctact tatcccgatt cagcatttca ggtcaccact ggatatcagt tgcctgtata
      841 taattatcag ccatttcctg cttatccaag atcaccattt caggtcactg ctggatatca
      901 gttgcctgta tataattatc aggcatttcc tgcttatcca aattcaccat ttcaagtcgc
      961 cactggatat cagttccctg tatacaatta tcagccattt cctgcttatc caagttcacc
     1021 atttcaggtc actgctggat atcagttgcc tgtatataat tatcaggcat ttcctgctta
     1081 tccaaattca ccatttcaag tcgccactgg atatcagttc cctgtataca attatcagcc
     1141 atttcctgct tatccaagtt caccatttca ggtcactgct ggatatcagt tgcctgtata
     1201 taattatcag gcatttcctg cttatccaaa ttcaccattt caagtcgcca ctggatatca
     1261 gttccctgta tacaattatc aggcatttcc tgcttatcca aattcaccag ttcaggtcac
     1321 cactggatat cagttgcctg tatacaatta tcaggcattt cctgcttatc caaattcacc
     1381 agttcaggtc accactggat atcagttgcc tgtatacaat tatcaggcat ttcctgctta
     1441 tccaagttca ccatttcagg tcaccactgg atatcagttg cctgtatata attatcaggc
     1501 atttcctgct tatccaagtt caccatttca ggtcaccact ggatatcagt tgcctgtata
     1561 taattatcag gcatttcctg cttatccaag ttcaccattt caggtcacca ctggatatca
     1621 gttgcctgta tataattatc aggcatttcc tgcttatcca agttcaccat ttcaggtcac
     1681 cactggatat cagttgcctg tatataatta tcaggcattt cctgcttatc caagttcacc
     1741 atttcaggtc accactggat atcagttgcc tgtatataat tatcaggcat ttcctgctta
     1801 tccaagttca ccatttcagg tcaccactgg atatcagttg cctgtatata attatcaggc
     1861 atttcctgct tatccaaatt cagcagttca ggtcaccact ggatatcagt tccatgtata
     1921 caattaccag atgccaccgc agtgccctgt tggggagcaa aggagaaatc tgtggaccga
     1981 agcatacaaa tggtggtatc ttgtctgttt aatccagaga agagactgat aaattccgtt
     2041 gttactcaag atgactgctt caagggtaaa agagtgcatc gctttagaag aagtttggca
     2101 gtatttaaat ctgttggatc ctctcagcta tctagtttca tgggaagttg ctggttttga
     2161 atattaagct aaaagttttc cactattaca gaaattctga attttggtaa atcacactga
     2221 aactttctgt ataacttgta ttattagact ctctagtttt atcttaacac tgaaactgtt
     2281 cttcattaga tgtttattta gaacctggtt ctgtgtttaa tatatagttt aaagtaacaa
     2341 ataatcgaga ctgaaagaat gttaagattt atctgcaagg atttttaaaa aattgaaact
     2401 tgcattttaa gtgtttaaaa gcaaatactg actttcaaaa aagtttttaa aacctgattt
     2461 gaaagctaac aattttgata gtctgaacac aagcatttca cttctccaag aagtacctgt
     2521 gaacagtaca atatttcagt attgagcttt gcatttatga tttatctaga aatttacctc
     2581 aaaagcagaa tttttaaaac tgcattttta atcagtggaa ctcaatgtat agttagcttt
     2641 attgaagtct tatccaaacc cagtaaaaca gattctaagc aaacagtcca atcagtgagt
     2701 cataatgttt attcaaagta ttttatcttt tatctagaat ccacatatgt atgtccaatt
     2761 tgattgggat agtagttagg ataactaaaa ttctgggcct aattttttaa agaatccaag
     2821 acaaactaaa ctttactggg tatataacct tctcaatgag ttaccattct tttttataaa
     2881 aaaaattgtt ccttgaaatg ctaaacttaa tggctgtatg tgaaatttgc aaaatactgg
     2941 tattaaagaa cgctgcagct tttttatgtc actcaaaggt taatcggagt atctgaaagg
     3001 aattgttttt ataaaaacat tgaagtatta gttacttgct ataaatagat ttttattttt
     3061 gttttttagc ctgttatatt tccttctgta aaataaaata tgtccagaag aggcatgttg
     3121 tttctagatt aggtagtgtc ctcattttat attgtgacca cacagctaga gcaccagagc
     3181 ccttttgcta tactcacagt cttgttttcc cagcctcttt tactagtctt tcaggaggtt
     3241 tgctcttaga actggtgatg taaagaatgg aagtagctgt atgagcagtt caaaggccaa
     3301 gccgtggaat ggtagcaatg ggatataata cctttctaag ggaaacattt gtatcagtat
     3361 catttgatct gccatggaca tgtgtttaaa gtggctttct ggcccttctt tcaatggctt
     3421 cttccctaaa acgtggagac tctaagttaa tgtcgttact atgggccata ttactaatgc
     3481 ccactggggt ctatgatttc tcaaaatttt cattcggaat ccgaaggata cagtctttaa
     3541 actttagaat tcccaagaag gctttattac acctcagaaa ttgaaagcac catgactttg
     3601 tccattaaaa aattatccat agttttttta gtgcttttaa cattccgaca tacatcattc
     3661 tgtgattaaa tctccagatt tctgtaaatg atacctacat tctaaagagt taattctaat
     3721 tattccgata tgaccttaag gaaaagtaaa ggaataaatt tttgtctttg ttgaagtatt
     3781 taatagagta aggtaaagaa gatattaagt ccctttcaaa atggaaaatt aattctaaac
     3841 tgagaaaaat gttcctacta cctattgctg atactgtctt tgcataaatg aataaaaata
     3901 aacttttttt cttcaaatgt g
//
