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    Dgcr2 DiGeorge syndrome critical region gene 2 [ Mus musculus (house mouse) ]

    Gene ID: 13356, updated on 22-Aug-2021

    Summary

    Official Symbol
    Dgcr2provided by MGI
    Official Full Name
    DiGeorge syndrome critical region gene 2provided by MGI
    Primary source
    MGI:MGI:892866
    See related
    Ensembl:ENSMUSG00000003166
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Id; Dgs; Idd; Lan; DGS-; Dgcr; Dgsc; Sez1; DGS-C; Sez12; mKIAA0163; 9930034O06Rik
    Expression
    Ubiquitous expression in ovary adult (RPKM 64.5), testis adult (RPKM 49.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Dgcr2 in Genome Data Viewer
    Location:
    16 A3; 16 11.05 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (17658219..17709592, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (17840355..17891728, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (17840448..17891821, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B830017H08 gene Neighboring gene carbonic anhydrase 15 Neighboring gene testis-specific serine kinase 1 Neighboring gene testis-specific serine kinase 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cognition ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    integral membrane protein DGCR2/IDD
    Names
    DiGeorge syndrome gene c
    DiGeorge syndrome protein C
    seizure-related membrane-bound adhesion protein

    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.

    mRNA and Protein(s)

    1. NM_001109750.1NP_001103220.1  integral membrane protein DGCR2/IDD isoform 2 precursor

      See identical proteins and their annotated locations for NP_001103220.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, which results in lacking of 9 nts on the site, as compared to variant 1. The resulting isoform 2 is shorter but has identical N- and C-termini, compared to isoform 1.
      Source sequence(s)
      BC060636, BY123353, D78641
      Consensus CDS
      CCDS49785.1
      UniProtKB/Swiss-Prot
      P98154
      UniProtKB/TrEMBL
      A0A0R4J1M6, Q6P5A9
      Related
      ENSMUSP00000112783.2, ENSMUST00000117945.8
      Conserved Domains (3) summary
      cd03599
      Location:111263
      CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
      smart00214
      Location:267325
      VWC; von Willebrand factor (vWF) type C domain
      cd00112
      Location:3066
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    2. NM_010048.3NP_034178.2  integral membrane protein DGCR2/IDD isoform 1 precursor

      See identical proteins and their annotated locations for NP_034178.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC060636, BY123353
      Consensus CDS
      CCDS37276.1
      UniProtKB/TrEMBL
      Q6P5A9
      Related
      ENSMUSP00000012152.7, ENSMUST00000012152.13
      Conserved Domains (3) summary
      cd03599
      Location:114266
      CLECT_DGCR2_like; C-type lectin-like domain (CTLD) of the type found in DGCR2, an integral membrane protein deleted in DiGeorge Syndrome (DGS)
      smart00214
      Location:270328
      VWC; von Willebrand factor (vWF) type C domain
      cd00112
      Location:3066
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      17658219..17709592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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