LOCUS       NM_005675               1117 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6),
            mRNA.
ACCESSION   NM_005675 NM_001368242
VERSION     NM_005675.6
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 1117)
  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   2  (bases 1 to 1117)
  AUTHORS   Richard,A.C., Rovelet-Lecrux,A., Delaby,E., Charbonnier,C.,
            Thiruvahindrapuram,B., Hatchwell,E., Eis,P.S., Afenjar,A., Gilbert
            Dussardier,B., Scherer,S.W., Betancur,C. and Campion,D.
  TITLE     The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic
            subjects but is not a strong risk factor for ASD
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 171B (3), 377-382 (2016)
   PUBMED   26978485
  REMARK    GeneRIF: the frequency of a recurrent small 22q11.2 deletion
            encompassing PRODH and the neighboring DGCR6 gene in three
            case-control studies, was studied.
REFERENCE   3  (bases 1 to 1117)
  AUTHORS   Das Chakraborty,R., Bernal,A.J., Schoch,K., Howard,T.D., Ip,E.H.,
            Hooper,S.R., Keshavan,M.S., Jirtle,R.L. and Shashi,V.
  TITLE     Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in
            chromosome 22q11.2 deletion syndrome
  JOURNAL   Transl Psychiatry 2 (4), e105 (2012)
   PUBMED   22832905
  REMARK    GeneRIF: Further studies are now needed to test the usefulness of
            DGCR6 and DGCR6L expression and alterations in the epigenome at
            these loci in predicting childhood anxiety and associated
            adult-onset pathologies in 22q11DS subjects.
            Erratum:[Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected
            to Das Chakraborty, R]]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1117)
  AUTHORS   Saus,E., Brunet,A., Armengol,L., Alonso,P., Crespo,J.M.,
            Fernandez-Aranda,F., Guitart,M., Martin-Santos,R., Menchon,J.M.,
            Navines,R., Soria,V., Torrens,M., Urretavizcaya,M., Valles,V.,
            Gratacos,M. and Estivill,X.
  TITLE     Comprehensive copy number variant (CNV) analysis of neuronal
            pathways genes in psychiatric disorders identifies rare variants
            within patients
  JOURNAL   J Psychiatr Res 44 (14), 971-978 (2010)
   PUBMED   20398908
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1117)
  AUTHORS   Zunner,D., Deschermeier,C. and Kornau,H.C.
  TITLE     GABA(B) receptor subunit 1 binds to proteins affected in 22q11
            deletion syndrome
  JOURNAL   Biochem Biophys Res Commun 393 (2), 185-189 (2010)
   PUBMED   20036641
  REMARK    GeneRIF: GABAB1 subunits interact with DGCR6 in the endoplasmic
            reticulum prior to their recruitment into functional GABAB
            receptors.
REFERENCE   6  (bases 1 to 1117)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1117)
  AUTHORS   Chakravarti,A.
  TITLE     A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6
            variation leads to schizophrenia susceptibility
  JOURNAL   Proc Natl Acad Sci U S A 99 (8), 4755-4756 (2002)
   PUBMED   11959925
  REMARK    GeneRIF: A compelling genetic hypothesis for a complex disease:
            PRODH2/DGCR6 variation leads to schizophrenia susceptibility.
REFERENCE   8  (bases 1 to 1117)
  AUTHORS   Liu,H., Heath,S.C., Sobin,C., Roos,J.L., Galke,B.L., Blundell,M.L.,
            Lenane,M., Robertson,B., Wijsman,E.M., Rapoport,J.L., Gogos,J.A.
            and Karayiorgou,M.
  TITLE     Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an
            unusual pattern and increases susceptibility to schizophrenia
  JOURNAL   Proc Natl Acad Sci U S A 99 (6), 3717-3722 (2002)
   PUBMED   11891283
  REMARK    GeneRIF: Genetic variation at the 22q11 PRODH2/DGCR6 locus presents
            an unusual pattern and increases susceptibility to schizophrenia
REFERENCE   9  (bases 1 to 1117)
  AUTHORS   Edelmann,L., Stankiewicz,P., Spiteri,E., Pandita,R.K., Shaffer,L.,
            Lupski,J.R. and Morrow,B.E.
  TITLE     Two functional copies of the DGCR6 gene are present on human
            chromosome 22q11 due to a duplication of an ancestral locus
  JOURNAL   Genome Res 11 (2), 208-217 (2001)
   PUBMED   11157784
  REMARK    Erratum:[Genome Res 2001 Mar;11(3):503. Lupski, J [corrected to
            Lupski, JR]]
REFERENCE   10 (bases 1 to 1117)
  AUTHORS   Demczuk,S., Thomas,G. and Aurias,A.
  TITLE     Isolation of a novel gene from the DiGeorge syndrome critical
            region with homology to Drosophila gdl and to human LAMC1 genes
  JOURNAL   Hum Mol Genet 5 (5), 633-638 (1996)
   PUBMED   8733130
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007326.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before May 12, 2022 this sequence version replaced
            NM_001368242.2, NM_005675.5.
            
            Summary: DiGeorge syndrome, and more widely, the CATCH 22 syndrome,
            are associated with microdeletions in chromosomal region 22q11.2.
            The product of this gene shares homology with the Drosophila
            melanogaster gonadal protein, which participates in gonadal and
            germ cell development, and with the gamma-1 subunit of human
            laminin. This gene is a candidate for involvement in DiGeorge
            syndrome pathology and in schizophrenia. [provided by RefSeq, Nov
            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 :: DA101173.1, CR456434.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331444.12/ ENSP00000331681.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-165               AC007326.28        4521-4685
            166-326             AC007326.28        4766-4926
            327-427             AC007326.28        8373-8473
            428-568             AC007326.28        9089-9229
            569-1117            AC007326.28        9741-10289
FEATURES             Location/Qualifiers
     source          1..1117
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1117
                     /gene="DGCR6"
                     /note="DiGeorge syndrome critical region gene 6"
                     /db_xref="GeneID:8214"
                     /db_xref="HGNC:HGNC:2846"
                     /db_xref="MIM:601279"
     exon            1..165
                     /gene="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..718
                     /gene="DGCR6"
                     /note="DiGeorge syndrome critical region protein 6"
                     /codon_start=1
                     /product="protein DGCR6"
                     /protein_id="NP_005666.2"
                     /db_xref="CCDS:CCDS13753.1"
                     /db_xref="GeneID:8214"
                     /db_xref="HGNC:HGNC:2846"
                     /db_xref="MIM:601279"
                     /translation="MERYAGALEEVADGARQQERHYQLLSALQSLVKELPSSFQQRLS
                     YTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQALRQKHQE
                     AQQACRPHNLPVLQAAQQRELEAVEHRIREEQRAMDQKIVLELDRKVADQQSTLEKAG
                     VAGFYVTTNPQELMLQMNLLELIRKLQQRGCWAGKAALGLGGPWQLPAAQCDQKGSPV
                     PP"
     exon            166..326
                     /gene="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            327..427
                     /gene="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            428..568
                     /gene="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     exon            569..1117
                     /gene="DGCR6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1091..1096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DGCR6"
                     /note="hexamer: AATAAA"
     polyA_site      1117
                     /gene="DGCR6"
                     /note="major polyA site"
ORIGIN      
        1 gacgtgagct gggggcgctc gtcgctgcag ccggcggcta gcgggcgtcc gcgccatgga
       61 gcgctacgcg ggcgccttgg aggaggtggc ggacggtgcc cggcagcagg agcgacacta
      121 ccagctgctg tcggcgttac agagcctggt gaaggagttg cccagctcat tccagcagcg
      181 cttgtcctac accacgctga gcgacctggc cctggcgctt ctcgacggca ccgtgttcga
      241 aatcgtgcag gggctactgg agatccagca cctcaccgaa aagagcctgt acaaccagcg
      301 cctgcgccta cagaacgagc atcgagtgct caggcaggcg ctgcggcaga agcaccagga
      361 agcccagcag gcctgccggc cccataacct gcctgtgctt caggcggctc agcagcgaga
      421 actagaggcg gtggagcacc ggatccgtga ggagcagcgg gcgatggacc agaagatcgt
      481 cctggagctg gaccggaagg tggctgacca gcagagcaca ctggagaagg cgggggtggc
      541 tggcttctac gtgaccacca acccacagga gctgatgctg cagatgaacc tgctggaact
      601 catccggaag ctgcagcaga ggggctgctg ggcagggaag gcagccctgg ggctaggagg
      661 tccctggcag ttgcctgctg cccagtgtga ccagaaaggc agccctgtcc caccatagcc
      721 acaggcagca gaagtctggg cagagttcat cttcttgacc tttggccact gccttcccag
      781 ctgcccgcag ggggttcccc ctgctgagga gagaccaggt ggaccccagc tgcctgtcac
      841 ccttcatctg ggacttgctg tcaaacccta ggatagtctc ataaagggga ggctgggcca
      901 gcctgctgct gtctgcttca gggccaggca gagagtgagg ctgggggttc tcacacctta
      961 ctccaccggg cacatcccaa cctgcactgg ggcccactcg agcgcttgtt ctggtctcag
     1021 ccgctccctt ggcagctgca gcccccatgc agaagaggct cccaggccca agctctgtgt
     1081 gacccagaga aataaagatg cctcagtgtg gcccgca
//
