U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    DGCR6 DiGeorge syndrome critical region gene 6 [ Homo sapiens (human) ]

    Gene ID: 8214, updated on 14-Nov-2024

    Summary

    Official Symbol
    DGCR6provided by HGNC
    Official Full Name
    DiGeorge syndrome critical region gene 6provided by HGNC
    Primary source
    HGNC:HGNC:2846
    See related
    Ensembl:ENSG00000183628 MIM:601279; AllianceGenome:HGNC:2846
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Broad expression in heart (RPKM 20.8), testis (RPKM 17.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DGCR6 in Genome Data Viewer
    Location:
    22q11.21; 22q11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18906223..18912088)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19281581..19287480)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18893833..18899601)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene POM121 transmembrane nucleoporin like 15, pseudogene Neighboring gene BCR pseudogene 7 Neighboring gene family with sequence similarity 230 member F Neighboring gene OCT4 hESC enhancer GRCh37_chr22:18883553-18884054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18890927-18891786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18891787-18892644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18892762-18893300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18893301-18893838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18893839-18894376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18895933-18896636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18896637-18897339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18897340-18898042 Neighboring gene proline dehydrogenase 1 Neighboring gene uncharacterized LOC122455341 Neighboring gene human-specific endogenous retroviral insert PRODH enhancer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18934751-18935496

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC54086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein DGCR6
    Names
    DiGeorge syndrome critical region protein 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009052.1 RefSeqGene

      Range
      5098..10866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005675.6NP_005666.2  protein DGCR6

      See identical proteins and their annotated locations for NP_005666.2

      Status: REVIEWED

      Source sequence(s)
      AC007326
      Consensus CDS
      CCDS13753.1
      UniProtKB/Swiss-Prot
      B2RCH5, D3DX15, G5E9J8, Q14129, Q9BY28
      UniProtKB/TrEMBL
      X5D7D2, X5DP20
      Related
      ENSP00000331681.6, ENST00000331444.12
      Conserved Domains (1) summary
      pfam07324
      Location:9195
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      18906223..18912088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441509.1XP_047297465.1  protein DGCR6 isoform X1

      Related
      ENSP00000397633.2, ENST00000427407.5
    2. XM_047441510.1XP_047297466.1  protein DGCR6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19281581..19287480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325952.1XP_054181927.1  protein DGCR6 isoform X1

    2. XM_054325953.1XP_054181928.1  protein DGCR6 isoform X2