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    Dgcr6 DiGeorge syndrome critical region gene 6 [ Mus musculus (house mouse) ]

    Gene ID: 13353, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dgcr6provided by MGI
    Official Full Name
    DiGeorge syndrome critical region gene 6provided by MGI
    Primary source
    MGI:MGI:1202877
    See related
    Ensembl:ENSMUSG00000003531 AllianceGenome:MGI:1202877
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a protein that is similar to the gonadal protein in Drosophila (fruit fly). The encoded protein is thought to play a role in migration of neural crest cells during development. Deletions in the human gene are associated with DiGeorge syndrome (or velocardiofacial syndrome) which has many clinical features including cardiac abnormalities, cleft palate, atypical facial features, hypocalcemia, hypoparathyroidism and defective development or congenital absence of the thymus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in testis adult (RPKM 66.5), adrenal adult (RPKM 30.2) and 27 other tissues See more
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    Genomic context

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    See Dgcr6 in Genome Data Viewer
    Location:
    16 A3; 16 11.19 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (17870736..17889497)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18052860..18071633)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40270 Neighboring gene V-set pre-B cell surrogate light chain 1B Neighboring gene STARR-seq mESC enhancer starr_40272 Neighboring gene STARR-seq mESC enhancer starr_40274 Neighboring gene predicted gene, 49580 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:18075403-18075586 Neighboring gene proline dehydrogenase Neighboring gene predicted gene, 52241 Neighboring gene reticulon 4 receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. Lindsay EA, et al. Cytogenet Cell Genet, 1997. PMID 9605865
    2. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Edelmann L, et al. Genome Res, 2001 Feb. PMID 11157784, Free PMC Article
    3. Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16. Moore CS, et al. Genomics, 1999 Jul 1. PMID 10395793
    4. Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation. Botta A, et al. Mamm Genome, 1997 Dec. PMID 9383280
    5. Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse. Sutherland HF, et al. Genomics, 1998 Aug 15. PMID 9740669

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    protein DGCR6
    Names
    DiGeorge syndrome chromosome region 6
    diGeorge syndrome critical region 6 homolog

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001289813.2 → NP_001276742.1  protein DGCR6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC087064
      Consensus CDS
      CCDS79432.1
      UniProtKB/Swiss-Prot
      O35347, Q9D2P5
      UniProtKB/TrEMBL
      E9QP31
      Related
      ENSMUSP00000067682.8, ENSMUST00000066027.14
      Conserved Domains (1) summary
      pfam07324
      Location:9 → 198
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

    2. NM_001289814.2 → NP_001276743.1  protein DGCR6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC087064
      Consensus CDS
      CCDS79433.1
      UniProtKB/Swiss-Prot
      O35347, Q9D2P5
      UniProtKB/TrEMBL
      D3Z558
      Related
      ENSMUSP00000122572.2, ENSMUST00000151266.8
      Conserved Domains (1) summary
      pfam07324
      Location:9 → 195
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

    3. NM_001416775.1 → NP_001403704.1  protein DGCR6 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC087064

    4. NM_001416776.1 → NP_001403705.1  protein DGCR6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC087064

    5. NM_001416778.1 → NP_001403707.1  protein DGCR6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC087064
      UniProtKB/TrEMBL
      D3Z558

    6. NM_001416780.1 → NP_001403709.1  protein DGCR6 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC087064

    7. NM_010047.5 → NP_034177.1  protein DGCR6 isoform 3

      See identical proteins and their annotated locations for NP_034177.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter and has multiple differences compared to variant 1. These differences result in a different 5' UTR and cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC087064
      Consensus CDS
      CCDS28016.1
      UniProtKB/TrEMBL
      Q3TV71, Q80ZS8
      Related
      ENSMUSP00000123029.2, ENSMUST00000143343.8
      Conserved Domains (1) summary
      pfam07324
      Location:9 → 167
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

    RNA

    1. NR_110380.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087064

    2. NR_184393.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087064

    3. NR_184394.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087064

    4. NR_184395.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087064

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      17870736..17889497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159766.1 → XP_036015659.1  protein DGCR6 isoform X1

      UniProtKB/Swiss-Prot
      O35347, Q9D2P5
      UniProtKB/TrEMBL
      D3Z558
      Conserved Domains (1) summary
      pfam07324
      Location:9 → 195
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35347.2 GenPept UniProtKB/Swiss-Prot:O35347

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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