LOCUS       NM_001145400            2018 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens adenosine deaminase domain containing 2 (ADAD2),
            transcript variant 2, mRNA.
ACCESSION   NM_001145400
VERSION     NM_001145400.2
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 2018)
  AUTHORS   Chukrallah,L.G., Potgieter,S., Chueh,L. and Snyder,E.M.
  TITLE     Two RNA binding proteins, ADAD2 and RNF17, interact to form a
            heterogeneous population of novel meiotic germ cell granules with
            developmentally dependent organelle association
  JOURNAL   PLoS Genet 19 (7), e1010519 (2023)
   PUBMED   37428816
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2018)
  AUTHORS   Shi,B., Shah,W., Liu,L., Gong,C., Zhou,J., Abbas,T., Ma,H.,
            Zhang,H., Yang,M., Zhang,Y., Ullah,N., Mahammad,Z., Khan,M.,
            Murtaza,G., Ali,A., Khan,R., Sha,J., Yuan,Y. and Shi,Q.
  TITLE     Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic
            failure and non-obstructive azoospermia in humans
  JOURNAL   Hum Reprod Open 2023 (3), hoad022 (2023)
   PUBMED   37325547
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2018)
  AUTHORS   Chukrallah,L.G., Badrinath,A., Vittor,G.G. and Snyder,E.M.
  TITLE     ADAD2 regulates heterochromatin in meiotic and post-meiotic male
            germ cells via translation of MDC1
  JOURNAL   J Cell Sci 135 (4) (2022)
   PUBMED   35191498
  REMARK    Erratum:[J Cell Sci. 2023 Dec 1;136(23):jcs261751. doi:
            10.1242/jcs.261751.. PMID: 38108510]
REFERENCE   4  (bases 1 to 2018)
  AUTHORS   Snyder,E., Chukrallah,L., Seltzer,K., Goodwin,L. and Braun,R.E.
  TITLE     ADAD1 and ADAD2, testis-specific adenosine deaminase
            domain-containing proteins, are required for male fertility
  JOURNAL   Sci Rep 10 (1), 11536 (2020)
   PUBMED   32665638
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2018)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB036324.1, AF447586.1 and BU731201.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001145400.1.
            
            Transcript Variant: This variant (2) lacks an exon and uses an
            alternate splice site in the coding region compared to variant 1.
            The resulting isoform (2) is shorter but has the same N- and
            C-termini compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033491.1, AF447586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000315906.10/ ENSP00000325153.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DB036324.1         41-62
            23-2017             AF447586.1         1-1995
            2018-2018           BU731201.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..2018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..2018
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /note="adenosine deaminase domain containing 2"
                     /db_xref="GeneID:161931"
                     /db_xref="HGNC:HGNC:30714"
                     /db_xref="MIM:619532"
     exon            1..492
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1826
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /note="isoform 2 is encoded by transcript variant 2;
                     adenosine deaminase domain-containing protein 2"
                     /codon_start=1
                     /product="adenosine deaminase domain-containing protein 2
                     isoform 2"
                     /protein_id="NP_001138872.1"
                     /db_xref="CCDS:CCDS45536.1"
                     /db_xref="GeneID:161931"
                     /db_xref="HGNC:HGNC:30714"
                     /db_xref="MIM:619532"
                     /translation="MASASQGADDDGSRRKPRLAASLQISPQPRPWRPLPAQAQSAWG
                     PAPAPATYRAEGGWPQVSVLRDSGPGAGAGVGELGAARAWENLGEQMGKAPRVPVPPA
                     GLSLPLKDPPASQAVSLLTEYAASLGIFLLFREDQPPGPCFPFSVSAELDGVVCPAGT
                     ANSKTEAKQQAALSALCYIRSQLENPESPQTSSRPPLAPLSVENILTHEQRCAALVSA
                     GFDLLLDERSPYWACKGTVAGVILEREIPRARGHVKEIYKLVALGTGSSCCAGWLEFS
                     GQQLHDCHGLVIARRALLRFLFRQLLLATQGGPKGKEQSVLAPQPGPGPPFTLKPRVF
                     LHLYISNTPKGAARDIYLPPTSEGGLPHSPPMRLQAHVLGQLKPVCYVAPSLCDTHVG
                     CLSASDKLARWAVLGLGGALLAHLVSPLYSTSLILADSCHDPPTLSRAIHTRPCLDSV
                     LGPCLPPPYVRTALHLFAGPPVAPSEPTPDTCRGLSLNWSLGDPGIEVVDVATGRVKA
                     NAALGPPSRLCKASFLRAFHQAARAVGKPYLLALKTYEAAKAGPYQEARRQLSLLLDQ
                     QGLGAWPSKPLVGKFRN"
     exon            493..633
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            634..681
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            682..807
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            808..958
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1126
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1356
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1600
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            1601..1721
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..2018
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1998..2003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /note="hexamer: AATAAA"
     polyA_site      2018
                     /gene="ADAD2"
                     /gene_synonym="TENRL"
                     /note="major polyA site"
ORIGIN      
        1 acccgccctg cgcgtgtgaa agggcgagag cagcgcgaga tagggcctag cgcctcagat
       61 cttcgttggc ggccatggct tcggcttctc agggcgctga cgacgacggc agtcgtagga
      121 agccccgcct ggctgcatcg ttgcagatca gcccccagcc ccgcccctgg cgaccgctac
      181 ccgcccaggc ccaaagtgcc tgggggcccg cgcccgcgcc cgcgacgtat cgcgcggagg
      241 gcgggtggcc ccaggtctcg gtgttgaggg acagtgggcc tggggcaggg gccggagtcg
      301 gggaactggg ggcagcccgg gcgtgggaaa acttggggga acagatgggg aaggccccga
      361 gggtccctgt gcccccagca gggctcagcc tgccgctcaa agacccacct gccagccagg
      421 ccgtgtcctt gctcacggag tacgcggcca gcctgggcat cttcctgctc ttccgggagg
      481 accagccacc aggtccctgc ttccccttct cggtgagcgc ggaactggat ggggtggtct
      541 gccctgcggg cactgcgaat agcaagacgg aggccaaaca gcaggcagcg ctctctgccc
      601 tctgctacat ccggagtcag ctggagaacc cagagtcccc ccagacctcc agccggcctc
      661 cactggcccc cctgagcgta gagaacatcc tgacccatga gcagcgctgc gcagcgttgg
      721 tgagcgccgg ctttgacctc ctgttggacg agcgctcgcc atactgggcc tgtaagggga
      781 ctgtggctgg agtcatcctg gagagggaga tcccgcgtgc caggggccac gtgaaggaga
      841 tctacaagct ggtggctctg ggcaccggca gcagctgctg tgctggctgg ctggagttct
      901 cgggccagca gctccacgac tgccatggcc tggtcatcgc ccgcagggcc ctgctgaggt
      961 tcttgttccg gcagctcctg ctggccacac aggggggccc caagggcaag gagcagtccg
     1021 tgctggcccc ccagccaggg cccggacccc cattcaccct caagccccgc gtcttcctgc
     1081 acctctacat cagcaacacc cccaagggcg cggcccgtga catctacctg ccccccacct
     1141 cggaaggtgg cctcccgcac agcccaccca tgcgcctgca ggcccatgtg ctcgggcagc
     1201 tgaagcctgt gtgctacgtg gcgccctcgc tctgtgacac ccacgtgggc tgcctgtcag
     1261 ccagtgacaa gctggcacgc tgggccgtgc tggggctggg tggtgccctg ctggcccacc
     1321 tggtgtcccc actctacagc accagcctca tcctggctga ctcatgccac gaccctccga
     1381 ctctgagcag ggccatccac acccggccct gcctggacag tgtcctgggg ccatgcctgc
     1441 cacctcccta cgtccggacc gccctgcacc tgtttgcagg gcccccggtg gccccttccg
     1501 aacccacccc tgacacctgc cgtggcctga gcctcaactg gagcctgggg gaccctggca
     1561 tcgaggttgt ggatgtggcc accgggcgtg tgaaggccaa tgccgccctg gggcctccct
     1621 cccgtctctg caaggcctcc tttctccggg cctttcacca ggcggccagg gctgtgggga
     1681 agccctacct cctggccttg aagacctacg aggctgccaa ggctgggccc taccaggagg
     1741 ctcgcaggca gctgtctctc ctcctggacc agcagggcct gggggcttgg ccctcgaagc
     1801 cactggtggg caaattcaga aactgaagcc agcctcggcg ggaccgaggt cccggagcca
     1861 agctgtaccc ctgctggggg agtgccctat ctgaggagcg ttgtggggag aacatgggtt
     1921 gtgcggggtg aaactggggc tggagggaag gaggagcctg ctgtggttgg gaggcggctg
     1981 ctgcacgttt gggcttgaat aaagaagtat ttctggtt
//
