LOCUS       NM_001282225            4355 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens adenosine deaminase 2 (ADA2), transcript variant 3,
            mRNA.
ACCESSION   NM_001282225 XM_005261245
VERSION     NM_001282225.2
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 4355)
  AUTHORS   Dong,L., Luo,W., Maksym,S., Robson,S.C. and Zavialov,A.V.
  TITLE     Adenosine deaminase 2 regulates the activation of the toll-like
            receptor 9 in response to nucleic acids
  JOURNAL   Front Med 18 (5), 814-830 (2024)
   PUBMED   39078537
  REMARK    GeneRIF: Adenosine deaminase 2 regulates the activation of the
            toll-like receptor 9 in response to nucleic acids.
REFERENCE   2  (bases 1 to 4355)
  AUTHORS   Verschoof,M.A., van Meenen,L.C.C., Andriessen,M.V.E.,
            Brinkman,D.M.C., Kamphuis,S., Kuijpers,T.W., Leavis,H.L.,
            Legger,G.E., Mulders-Manders,C.M., de Pagter,A.P.J., Rutgers,A.,
            van Well,G.T.J., Coutinho,J.M., Hak,A.E., van Montfrans,J.M. and
            Klouwer,F.C.C.
  TITLE     Neurological phenotype of adenosine deaminase 2 deficient patients:
            a cohort study
  JOURNAL   Eur J Neurol 31 (1), e16043 (2024)
   PUBMED   37584090
  REMARK    GeneRIF: Neurological phenotype of adenosine deaminase 2 deficient
            patients: a cohort study.
REFERENCE   3  (bases 1 to 4355)
  AUTHORS   Jedrzejewska,A., Kawecka,A., Braczko,A., Romanowska-Kocejko,M.,
            Stawarska,K., Deptula,M., Zawrzykraj,M., Franczak,M., Krol,O.,
            Harasim,G., Walczak,I., Pikula,M., Hellmann,M. and Kutryb-Zajac,B.
  TITLE     Changes in Adenosine Deaminase Activity and Endothelial Dysfunction
            after Mild Coronavirus Disease-2019
  JOURNAL   Int J Mol Sci 24 (17), 13140 (2023)
   PUBMED   37685949
  REMARK    GeneRIF: Changes in Adenosine Deaminase Activity and Endothelial
            Dysfunction after Mild Coronavirus Disease-2019.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4355)
  AUTHORS   Asna Ashari,K., Aslani,N., Parvaneh,N., Assari,R., Heidari,M.,
            Fathi,M., Tahghighi Sharabian,F., Ronagh,A., Shahrooei,M.,
            Moafi,A., Rezaei,N. and Ziaee,V.
  TITLE     A case series of ten plus one deficiency of adenosine deaminase 2
            (DADA2) patients in Iran
  JOURNAL   Pediatr Rheumatol Online J 21 (1), 55 (2023)
   PUBMED   37312195
  REMARK    GeneRIF: A case series of ten plus one deficiency of adenosine
            deaminase 2 (DADA2) patients in Iran.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4355)
  AUTHORS   Sharma,V., Deo,P. and Sharma,A.
  TITLE     Deficiency of adenosine deaminase 2 (DADA2): Review
  JOURNAL   Best Pract Res Clin Rheumatol 37 (1), 101844 (2023)
   PUBMED   37328410
  REMARK    GeneRIF: Deficiency of adenosine deaminase 2 (DADA2): Review.
            Review article
REFERENCE   6  (bases 1 to 4355)
  AUTHORS   Zavialov,A.V. and Engstrom,A.
  TITLE     Human ADA2 belongs to a new family of growth factors with adenosine
            deaminase activity
  JOURNAL   Biochem J 391 (Pt 1), 51-57 (2005)
   PUBMED   15926889
  REMARK    GeneRIF: findings show ADA2 is encoded by the CECR1 gene & belongs
            to novel family of ADA-related growth factors;ADA2 may be active in
            sites of inflammation during hypoxia & in areas of tumour growth
            where adenosine is elevated & extracellular pH is acidic
REFERENCE   7  (bases 1 to 4355)
  AUTHORS   Footz,T.K., Brinkman-Mills,P., Banting,G.S., Maier,S.A.,
            Riazi,M.A., Bridgland,L., Hu,S., Birren,B., Minoshima,S.,
            Shimizu,N., Pan,H., Nguyen,T., Fang,F., Fu,Y., Ray,L., Wu,H.,
            Shaull,S., Phan,S., Yao,Z., Chen,F., Huan,A., Hu,P., Wang,Q.,
            Loh,P., Qi,S., Roe,B.A. and McDermid,H.E.
  TITLE     Analysis of the cat eye syndrome critical region in humans and the
            region of conserved synteny in mice: a search for candidate genes
            at or near the human chromosome 22 pericentromere
  JOURNAL   Genome Res 11 (6), 1053-1070 (2001)
   PUBMED   11381032
REFERENCE   8  (bases 1 to 4355)
  AUTHORS   Charlab,R., Valenzuela,J.G., Andersen,J. and Ribeiro,J.M.
  TITLE     The invertebrate growth factor/CECR1 subfamily of adenosine
            deaminase proteins
  JOURNAL   Gene 267 (1), 13-22 (2001)
   PUBMED   11311551
REFERENCE   9  (bases 1 to 4355)
  AUTHORS   Riazi,M.A., Brinkman-Mills,P., Nguyen,T., Pan,H., Phan,S., Ying,F.,
            Roe,B.A., Tochigi,J., Shimizu,Y., Minoshima,S., Shimizu,N.,
            Buchwald,M. and McDermid,H.E.
  TITLE     The human homolog of insect-derived growth factor, CECR1, is a
            candidate gene for features of cat eye syndrome
  JOURNAL   Genomics 64 (3), 277-285 (2000)
   PUBMED   10756095
REFERENCE   10 (bases 1 to 4355)
  AUTHORS   Aksentijevich,I., Sampaio Moura,N. and Barron,K.
  TITLE     Adenosine Deaminase 2 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31393689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC391616.1, CR456417.1,
            AK074702.1, CD369524.1 and AI523928.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 24, 2018 this sequence version replaced NM_001282225.1.
            
            Summary: This gene encodes a member of a subfamily of the adenosine
            deaminase protein family. The encoded protein is one of two
            adenosine deaminases found in humans, which regulate levels of the
            signaling molecule, adenosine. The encoded protein is secreted from
            monocytes undergoing differentiation and may regulate cell
            proliferation and differentiation. This gene may be responsible for
            some of the phenotypic features associated with cat eye syndrome.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (a). Both variants 3 and
            4 encode the same isoform.
            
            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 :: SRR1803614.6826.1,
                                           SRR1803611.71334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000399837.8/ ENSP00000382731.2
            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
            1-92                DC391616.1         153-244
            93-1854             CR456417.1         1-1762
            1855-3843           AK074702.1         1083-3071
            3844-4165           CD369524.1         208-529             c
            4166-4355           AI523928.1         6-195               c
FEATURES             Location/Qualifiers
     source          1..4355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.1"
     gene            1..4355
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /note="adenosine deaminase 2"
                     /db_xref="GeneID:51816"
                     /db_xref="HGNC:HGNC:1839"
                     /db_xref="MIM:607575"
     exon            1..80
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            81..448
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1662
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /EC_number="3.5.4.4"
                     /note="isoform a precursor is encoded by transcript
                     variant 3; adenosine deaminase CECR1; cat eye syndrome
                     critical region protein 1; cat eye syndrome chromosome
                     region, candidate 1"
                     /codon_start=1
                     /product="adenosine deaminase 2 isoform a precursor"
                     /protein_id="NP_001269154.1"
                     /db_xref="CCDS:CCDS13742.1"
                     /db_xref="GeneID:51816"
                     /db_xref="HGNC:HGNC:1839"
                     /db_xref="MIM:607575"
                     /translation="MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMM
                     RLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNIL
                     RMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCS
                     KWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLI
                     HYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKF
                     VETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSL
                     HDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHP
                     AVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKG
                     LSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADV
                     ATK"
     exon            449..668
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            669..879
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1007
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1098
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1207
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1365
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1568
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..4355
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3822..3827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /note="hexamer: AATAAA"
     polyA_site      3842
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /note="major polyA site"
     regulatory      4334..4339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
                     /note="hexamer: AATGAA"
     polyA_site      4355
                     /gene="ADA2"
                     /gene_synonym="ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS"
ORIGIN      
        1 agttggtgag cttttccggt gctctgcaca gatgctgggg cgctgagcaa acagccctca
       61 gtttctggag ctgttccgag tcccgtggag tctccatctg agccctttcc tagtccaggc
      121 atcccgatgt tggtggatgg cccatctgag cggccagccc tgtgcttctt gctgttggct
      181 gtggcaatgt ctttcttcgg ctcagctcta tccatagatg aaacacgggc gcatctgttg
      241 ttgaaagaaa agatgatgcg gctggggggg cggctggtgc tgaacaccaa ggaggagctg
      301 gccaatgaga ggctcatgac gctcaaaatc gctgagatga aggaggccat gaggaccctg
      361 atattcccac ccagcatgca ctttttccag gccaagcatc tcattgagag aagtcaagtg
      421 tttaatattc taaggatgat gccaaaaggg gctgccttgc acctccatga cattggcatc
      481 gtgactatgg actggctggt gaggaatgtc acctacaggc ctcactgcca catctgtttc
      541 accccaaggg ggatcatgca gttcagattt gctcacccaa ctccccgtcc atcagaaaaa
      601 tgttccaagt ggattctgct ggaggattat cggaagcggg tgcagaacgt cactgagttt
      661 gatgacagct tgctgaggaa tttcactctg gtgacccagc acccggaggt gatttacaca
      721 aaccaaaatg ttgtctggtc gaaatttgaa accatcttct tcaccatctc tggtctcatc
      781 cattacgcac cagtgttcag agactatgtc ttccggagca tgcaggagtt ctacgaggac
      841 aacgtgctct acatggagat cagagccagg ctgctgccgg tgtatgagct cagtggagag
      901 caccatgacg aagagtggtc agtgaagact taccaggaag tagctcagaa gtttgtggaa
      961 actcaccctg agtttattgg aatcaaaatc atttattcgg atcacagatc caaagatgtg
     1021 gctgtcatcg cagaatccat ccgaatggcc atggggctcc gaatcaagtt ccccacggtg
     1081 gtggcagggt ttgacctggt ggggcatgag gacactggcc actccttgca tgactacaag
     1141 gaagctctga tgatccccgc caaggatggc gttaagctgc cttacttctt ccacgccgga
     1201 gaaacagact ggcagggtac ttccatagac aggaacattc tggatgctct gatgctgaac
     1261 actaccagaa tcggccatgg atttgctttg agcaaacacc ccgcagtcag gacttactcc
     1321 tggaaaaagg acatccccat agaagtctgt cccatctcta accaggtgct gaaactggtg
     1381 tctgacttga ggaaccaccc tgtagccact ctgatggcca ctgggcaccc catggtgatc
     1441 agctctgatg acccagctat gtttggtgcc aaaggcttgt cctatgattt ctatgaggtc
     1501 ttcatgggca ttggggggat gaaggctgac ctgaggaccc tcaaacagct ggccatgaac
     1561 tctatcaagt acagtaccct gttggagagt gagaaaaata ctttcatgga aatctggaag
     1621 aagagatggg ataagttcat agcagatgtg gctacaaagt gaggagaagc tagccagccc
     1681 tctacaagct gtcttcttgc acacgctgtc acttcctctc actcgttctt gaatcagctc
     1741 catgtgccca tgaaatcaat ggcctctgta tggagcgacc ctgtgagaag cacttggctg
     1801 gctgagcaaa ttcatcctct ggaaatattc tctctcagcc acagtgacat tgaccctctt
     1861 ggttttctcc tgtctctggc catttcttcc agtttcccta tttcagagtc ttctcctctc
     1921 tctgatctct gtgctgtttc ctcaggactc agtcctgggc tctcttctat tctggtctct
     1981 ttattttttt atttttgtat tttttcgaga tggagttttg ctcttgttgc ccaggctgga
     2041 gtacaatggt gcgatctcag ctcagtgcaa cctccgccac ccgggttcag gcaattctct
     2101 tgcatcagcc tcgcgagtag ttggaattat aggcatgtgc caccacaccc agctgatttt
     2161 tgcattttta gtagagacag gttttcacca tgttggcgag gctggtatcc aactcttgac
     2221 ctcaggtgat ccactcgccc cttggctccc aaagtgctgg aattacaggc attagccacc
     2281 atgcctggcc tattctggtc tctttaactc tctcctcttt atttctcttc tctctctgta
     2341 cacttttcct gggtggtctc atccattcct ttgctttttc ataccattta tttgttaatg
     2401 attcccacat ttatttatgc acttggagag ctcacaggaa tctcagaaac tgatgaggta
     2461 caattctgaa ccctcagtct cttcccttta aacctttctt tttctctact ttaatttttc
     2521 taaagagtgt cttgctatgt tgcccaggct ggtctccaac tcaagtgatc ctcctgccgc
     2581 agtctcccga agtgctggga ttactgacat gagccaccac actcagccct ttaaaccttt
     2641 ccctggcctt tcccatagct ggtgaaggac acctccatcc attccacgca gttgctcaaa
     2701 gcagaaattt tcagtgcaag tcttgatgct gcgccgtccc ccactcccta catcagaacg
     2761 catccctcat ctggactcca gcggtggctt cttgatgctg cgcggtcccc cactccctac
     2821 atcagaatgc atcccgcatc cagactccag cggtggtgct ctacctgcac gctgttgcca
     2881 agtccaagct accatactcc tgcctgagct atgacaacag cctcctcact gatctcccct
     2941 ttcttccctt tgcctcctcc agctcatttt tcacagtgta gaatgacatt ttgtttgttt
     3001 gttttgtttt gtttgagatg gagtctcgct ctgttgccca gggtggagtg cagcggtgcg
     3061 atctcggctc actgcaacct ccacctcccg ggttcaagcg gattctcgtg cctcagcctc
     3121 ctgagtagct gggattacag gcatgcacca ccatgcccgg ataatttttg tatttttagt
     3181 agagatgggg tttcactatg ttggccaggc tggtctcgaa cacctgacct cgtggtccac
     3241 ccgcctcggc ctcccaaagc actgggatta caggcgtgag ccacccggcc tggcctagaa
     3301 tgacttttaa aagatcaaat taaatcaggt cactcctttg cttacaacgc agtgcgttta
     3361 gaggtacacc ccatgtctcc acagggcata cagcatccga tttaatctgg atccattccg
     3421 gcgccttcct ctcccagtca cccagagggc cccaaccccg gcggcccttt cttcctcaaa
     3481 tgtcctcggc tctataccgt gcctgggtct tttctctttc tctctgcctg gaagattcct
     3541 tctttcccct tttgtcttgc ccactcctgt ttacccttca agtttcaagt tcatgtcact
     3601 gtctcagaga ggttttcctg tgctcgccct gtttctctca ggaagccttg ctcttttcca
     3661 tcatgcctct aatcacagct tataatcgga tatttatttc tgtgtctaca gtcttgccct
     3721 gccagactgt atgccccatg tgggcaggcg ctcatgattg tttctgattg tttcacgcat
     3781 gctgctaacc cagagcctgg gcccaaagct agttagtact caataaacaa tgcattgaat
     3841 gagtggctgt cactgtgtct gttcagccag ctgccaaggc agaggggagt agagcagagc
     3901 cgccccaaat aaaagacctc atgtgatcag agtccagctc ctcacctggc cttggaagaa
     3961 ggatgcaaga agccacctct gtcctcaccc aactcaagga tggcagggaa tcaaagaatt
     4021 cctcaaaagc cccaggcgaa tgtcctctca tccatcttcc atgacctgta cctgagctct
     4081 cagacagcag caagccctct ctccattcct agtttatcac catttggttc ctggaactgg
     4141 gaaaaaacag caaccataag ctgtgcctgg atggaagaag acaacctcta gggtcctgtc
     4201 taactctgca ggtgattcag tgccttaccc aatccctgaa gatcttttag gtcccaactg
     4261 cgcaggggac ctccaacaca ggcagacgca aacagcctct ggcctggact tgctgtgatc
     4321 tctgatttgg caaaatgaac cagcaatagt cttgc
//
