LOCUS       NM_005137               4438 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2),
            transcript variant 1, mRNA.
ACCESSION   NM_005137
VERSION     NM_005137.3
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 4438)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   2  (bases 1 to 4438)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4438)
  AUTHORS   Belangero,S.I., Ota,V.K., Gadelha,A., Berberian,A.A.,
            Assuncao-Leme,I.B., Noto,C., Christofolini,D.M., Bellucco,F.T.,
            Santoro,M.L., Mazzotti,D.R., Zugman,A., Melaragno,M.I.,
            Smith,M.A.C., Pellegrino,R., Hakonarson,H., Cordeiro,Q.,
            Moretti,P.N., Bressan,R.A., Mari,J.J. and Jackowski,A.P.
  TITLE     DGCR2 influences cortical thickness through a mechanism independent
            of schizophrenia pathogenesis
  JOURNAL   Psychiatry Res 274, 391-394 (2019)
   PUBMED   30901624
  REMARK    GeneRIF: While no association between DGCR2 polymorphisms and
            schizophrenia was found, the missense variant rs2072123 was
            associated to left rostral anterior cingulate thickness, showing
            that DGCR2 seems not to be associated directly with the
            schizophrenia but might be influencing the brain morphology. We
            also showed a DGCR2 downregulation in schizophrenia patients when
            compared to controls and first episode of psychosis.
REFERENCE   4  (bases 1 to 4438)
  AUTHORS   Swaminathan,S., Huentelman,M.J., Corneveaux,J.J., Myers,A.J.,
            Faber,K.M., Foroud,T., Mayeux,R., Shen,L., Kim,S., Turk,M.,
            Hardy,J., Reiman,E.M. and Saykin,A.J.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative  and  NIA-LOAD/NCRAD
            Family Study Group
  TITLE     Analysis of copy number variation in Alzheimer's disease in a
            cohort of clinically characterized and neuropathologically verified
            individuals
  JOURNAL   PLoS One 7 (12), e50640 (2012)
   PUBMED   23227193
REFERENCE   5  (bases 1 to 4438)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   6  (bases 1 to 4438)
  AUTHORS   Gong,W., Emanuel,B.S., Collins,J., Kim,D.H., Wang,Z., Chen,F.,
            Zhang,G., Roe,B. and Budarf,M.L.
  TITLE     A transcription map of the DiGeorge and velo-cardio-facial syndrome
            minimal critical region on 22q11
  JOURNAL   Hum Mol Genet 5 (6), 789-800 (1996)
   PUBMED   8776594
REFERENCE   7  (bases 1 to 4438)
  AUTHORS   Kajiwara,K., Nagasawa,H., Shimizu-Nishikawa,K., Ookura,T.,
            Kimura,M. and Sugaya,E.
  TITLE     Cloning of SEZ-12 encoding seizure-related and membrane-bound
            adhesion protein
  JOURNAL   Biochem Biophys Res Commun 222 (1), 144-148 (1996)
   PUBMED   8630060
REFERENCE   8  (bases 1 to 4438)
  AUTHORS   Wadey,R., Daw,S., Taylor,C., Atif,U., Kamath,S., Halford,S.,
            O'Donnell,H., Wilson,D., Goodship,J., Burn,J. et al.
  TITLE     Isolation of a gene encoding an integral membrane protein from the
            vicinity of a balanced translocation breakpoint associated with
            DiGeorge syndrome
  JOURNAL   Hum Mol Genet 4 (6), 1027-1033 (1995)
   PUBMED   7655455
REFERENCE   9  (bases 1 to 4438)
  AUTHORS   Demczuk,S., Aledo,R., Zucman,J., Delattre,O., Desmaze,C.,
            Dauphinot,L., Jalbert,P., Rouleau,G.A., Thomas,G. and Aurias,A.
  TITLE     Cloning of a balanced translocation breakpoint in the DiGeorge
            syndrome critical region and isolation of a novel potential
            adhesion receptor gene in its vicinity
  JOURNAL   Hum Mol Genet 4 (4), 551-558 (1995)
   PUBMED   7633403
REFERENCE   10 (bases 1 to 4438)
  AUTHORS   Augusseau,S., Jouk,S., Jalbert,P. and Prieur,M.
  TITLE     DiGeorge syndrome and 22q11 rearrangements
  JOURNAL   Hum Genet 74 (2), 206 (1986)
   PUBMED   3770751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA494775.1, D79985.1 and
            BC040500.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005137.2.
            
            Summary: Deletions of the 22q11.2 have been associated with a wide
            range of developmental defects (notably DiGeorge syndrome,
            velocardiofacial syndrome, conotruncal anomaly face syndrome and
            isolated conotruncal cardiac defects) classified under the acronym
            CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor
            protein, which could play a role in neural crest cells migration, a
            process which has been proposed to be altered in DiGeorge syndrome.
            Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: BC040500.1, SRR1803611.76350.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263196.12/ ENSP00000263196.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-468               DA494775.1         43-510
            469-1904            D79985.1           448-1883
            1905-4438           BC040500.1         1942-4475
FEATURES             Location/Qualifiers
     source          1..4438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..4438
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /note="DiGeorge syndrome critical region gene 2"
                     /db_xref="GeneID:9993"
                     /db_xref="HGNC:HGNC:2845"
                     /db_xref="MIM:600594"
     exon            1..285
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     CDS             207..1859
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; integral membrane protein DGCR2/IDD; integral
                     membrane protein deleted in DiGeorge syndrome; DiGeorge
                     syndrome critical region protein 2"
                     /codon_start=1
                     /product="integral membrane protein DGCR2/IDD isoform 1
                     precursor"
                     /protein_id="NP_005128.1"
                     /db_xref="CCDS:CCDS33598.1"
                     /db_xref="GeneID:9993"
                     /db_xref="HGNC:HGNC:2845"
                     /db_xref="MIM:600594"
                     /translation="MVPKADSGAFLLLFLLVLTVTEPLRPELRCNPGQFACRSGTIQC
                     IPLPWQCDGWATCEDESDEANCPEVTGEVRPHHGKEAVDPRQGRARGGDPSHFHAVNV
                     AQPVRFSSFLGKCPTGWHHYEGTASCYRVYLSGENYWDAAQTCQRLNGSLATFSTDQE
                     LRFVLAQEWDQPERSFGWKDQRKLWVGYQYVITGRNRSLEGRWEVAFKGSSEVFLPPD
                     PIFASAMSENDNVFCAQLQCFHFPTLRHHDLHSWHAESCYEKSSFLCKRSQTCVDIKD
                     NVVDEGFYFTPKGDDPCLSCTCHGGEPEMCVAALCERPQGCQQYRKDPKECCKFMCLD
                     PDGNSLFDSMASGMRLVVSCISSFLILSLLLFMVHRLRQRRRERIESLIGANLHHFNL
                     GRRIPGFDYGPDGFGTGLTPLHLSDDGEGGTFHFHDPPPPYTAYKYPDIGQPDDPPPP
                     YEASIHPDSVFYDPADDDAFEPVEVSLPAPGDGGSEGALLRRLEQPLPTAGASLADLE
                     DSADSSSALLVPPDPAQSGSTPAAEALPGGGRHSRSSLNTVV"
     exon            286..408
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            409..534
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            535..754
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            755..831
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            832..1008
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1212
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1365
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1602
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..4438
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4419..4424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /note="hexamer: AATAAA"
     polyA_site      4438
                     /gene="DGCR2"
                     /gene_synonym="DGS-C; IDD; LAN; SEZ-12"
                     /note="major polyA site"
ORIGIN      
        1 atcttgcgcg cagctggagt cggtgcctga ggttgcagcc gagagtgtgc gccagcccgc
       61 ggcccagccg aagctctttc ccgccgcctc tccgcgcctc gcccaggttc agctccgcct
      121 gaccctccgc ttggcacggt cccctgaccc tcagtccggc ctggtccggc cttccagccg
      181 ccccggggac gatgaacgga ggataaatgg tgcccaaggc agacagcggc gccttcctgc
      241 tgctcttcct gctcgtgctc actgtcaccg agccgctgcg gccagagctg cggtgcaacc
      301 ctgggcagtt tgcgtgtcgc agcggcacca tccagtgcat ccccctcccc tggcagtgtg
      361 acggctgggc gacttgcgag gatgagagcg acgaagccaa ctgtccagaa gtgaccgggg
      421 aggtgcgtcc tcatcatggg aaggaggctg tggatccgcg gcaggggcgg gccagaggag
      481 gcgacccttc gcacttccac gcggtgaacg tggcgcagcc cgttcgcttc agcagtttcc
      541 tagggaagtg cccgacaggg tggcaccact acgaaggcac ggccagctgc taccgggtct
      601 acctgagcgg ggagaactac tgggatgccg cgcagacctg ccagcgcctg aatggctctc
      661 tcgccacctt ctccactgac caggagctgc gctttgtcct ggcccaggaa tgggaccagc
      721 ccgagcggag ctttggttgg aaggaccagc gcaagttgtg ggttggctat cagtatgtta
      781 tcactggccg gaaccgctcc ttggaaggtc gctgggaggt ggcattcaaa ggctcttcag
      841 aggtgttcct gcccccagac cccatctttg cctcggccat gtctgagaac gacaacgtgt
      901 tctgtgccca gcttcagtgc ttccatttcc ccaccctgcg gcaccacgac ctccacagct
      961 ggcacgccga gagctgctac gagaagtctt catttctgtg taaaagaagt caaacatgtg
     1021 ttgacatcaa ggacaacgtg gtggatgaag ggttctactt cacccctaag ggggacgacc
     1081 catgcctgag ctgcacctgc catggagggg agcctgagat gtgtgtggct gctctctgtg
     1141 agaggcccca gggctgccaa cagtaccgca aggaccccaa agagtgctgc aagttcatgt
     1201 gtctggaccc agatggcaac agtctgtttg actccatggc cagcgggatg cgcctggtcg
     1261 tcagctgcat ctcctccttc ctcatcctgt cactgctgct cttcatggtc caccggctgc
     1321 gccagcggcg ccgggagcgc atcgagtccc tgattggagc aaacttgcac cacttcaacc
     1381 tcggccgcag gatccctggc tttgattacg gcccagacgg gtttggcacg ggcctcacgc
     1441 cgctgcatct ttctgacgac ggagagggtg ggactttcca tttccacgac cctccacctc
     1501 cctacacggc atacaagtac ccggacatcg gccagcccga cgaccctccg ccgccctacg
     1561 aggcctccat ccacccggac agtgtgttct atgaccctgc agacgatgat gcttttgagc
     1621 ctgtggaggt cagcctgcca gcccctgggg atggtgggag tgaaggtgca ttactccggc
     1681 gcctggagca gcctctgccc actgcggggg cctctctggc agacctggaa gactctgccg
     1741 acagcagcag cgccctgctc gtgccccctg accctgccca gagcgggagc accccagctg
     1801 cagaggcact gccagggggt ggccgccaca gccgcagctc cctcaatact gtggtgtaga
     1861 cggcctggcc tgtaccccaa cggtctggga gcacctgtct gttgtagaaa acaccggtcc
     1921 ctggggagac ttgaaaggcc cctgtcccag cctggacgcc acgcactgcc gcacgtcact
     1981 ggcgggctcg cgtgtgtaca tagagaccac agcccgcctt ctgccaaaag aagtgatggc
     2041 ctgcaccgag cttccttgag ggcttcagaa acatgcatag ctttggatca ctgtcttctc
     2101 ctttataaat ggcagaagag tgacaaaatt cattcagacc gcacatgtta gaggcaggga
     2161 atgaagaagg tactgtgggc catggccaca cctgatgcgt ttttggtggg cttacttggt
     2221 gcagtgtgct gtccagagag acctgctgac ccagtctggg acaggcacag tgggagctgc
     2281 cacagtgccc cttgctggcc gccctcagga gggggcctct ggaccgtcag tgtggcgtag
     2341 gcagtgggtc tgcttcaggg aggcagcctc ttgactttgt cacaacggtt gcactgaaga
     2401 tggcccccac aagcccagtt gtgaatatca aggtgaccct gcccctggct gggagctccc
     2461 ctggggctct ggaacctgaa gccctgagaa ggagagcttg gaaggaggtt gagctcttca
     2521 ctgtgtcttt ccatctgggc tctgcagccc agctctgtgg caggaggcct gaccccaccc
     2581 catcagtccc tctcccagca ttgctgtgca tggctccctc aggaagaagc tctggagtgg
     2641 ggccgaggcc ccagatgctc tgctggggtc tggggactga gctgcctcct gtctctccac
     2701 tctggagccc tgggctcttg cctcctgttg aattgcccct gggcctgccc ccggccccat
     2761 ttgtgccata aagggttgct tcattgcagg aggggtggct gaaaccacca tcctgggctg
     2821 catctatctc cttaaagtcc actccttaca tcaccgccac tactgcagct cagtgcccag
     2881 cggccgcatg cacacctccc ggcccctcct cagcagcgca ggggctgggg gcccttcctg
     2941 gcaccctttt gcctgacgga ccctgttgcc tgctcctggg cagtggtttt gttgcctgac
     3001 acagggcctt taacatttct gaggtttgga gattaagcgg gttctgtgcg atttttagca
     3061 catccatatc ttttctacgt tgaatgtctg gatctttcct ttgtatgttt gtgtctctgt
     3121 gtgtgtatgt ggccaagcgt ctgcaggtga gggtggcaca tggaacttca cgggtcactg
     3181 ggggcccact cttccagggt catcgatgca tcctgggctg tgctgaggca gtgctgtctc
     3241 gctcagtctt tccagaccag cggggcagca cctgggaggc ctgtctgaag catgcagttc
     3301 tgtggtgctg ctcggggatg gactccatgc acagtccact tcttgacaca ttctcacact
     3361 gtggctggag acccattttt tccatcccat gtggaatgag aatcttgagt tgcccacaga
     3421 cagacttgac ctttgtgcca gaactgtcca gagctgtgag ttttgttact gaattgcctg
     3481 tccctgagct tggcctgctg gagcatgatg ctggaggctg tgtgcgggca ggcttgtgct
     3541 ccccttggag aagggctgct acttaacaag gaagtcctgg ccacaggagt cccctactgg
     3601 ctgcagagga cgaagcagga agcatgccgt ggatcccaca tgcactgggg cagggcagcc
     3661 aggttccaga gcagcaggca tgtgcattat gggtgccagg tggccagtga gggcccgagg
     3721 accacgcagc agagtccccc acgggcctga gcctgagagc tcagaggatt cctgccaggc
     3781 ctcagaactg tgtgtgcggg acagggtggc tggcacgaga tgtgtgggac tgggacgctt
     3841 cctttgggga ccagaggaac attaggggcc ggtcagacac gtagggggca gtgaggaaac
     3901 ggggtaaagt ggaccatgca ggctgcagag ggtgggcctt gggctggccg gggttgctgg
     3961 gtggcccctt ccccatgggc ctccacaagc actcaggcca ctggcacgtt gggccaggca
     4021 gaaggtccac atggcagggc tgcctggaac accgctgcca ctgtggctcc aggaggccct
     4081 tgggagcatg aggagagctg gactcgctca tctgttcttg caccaccatc cagaatgccc
     4141 cctttgcaag gcctgctgca gtccccagtc tgaccagcaa gtcccggggt cacccttgct
     4201 gaaccttgtg ctccaggggt cctcctcctc taggaccagc ttgccacggt ttctcagagc
     4261 ccaggtgccc tctgacctgc catgcggagg tgggatttga tactgtacat tgtcttgatg
     4321 cctgtttttt tatgttttca ttaagggttt ttagtttttg gttgggttga cactaacttt
     4381 tcttaagatg ctgtgagaat catttcatcc aaatgccaaa taaacttgtg ttccggaa
//
