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    Dennd2c DENN domain containing 2C [ Mus musculus (house mouse) ]

    Gene ID: 329727, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dennd2cprovided by MGI
    Official Full Name
    DENN domain containing 2Cprovided by MGI
    Primary source
    MGI:MGI:3036254
    See related
    Ensembl:ENSMUSG00000007379 AllianceGenome:MGI:3036254
    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
    A930010I20Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be located in nucleoplasm. Is expressed in several structures, including foregut; liver; male reproductive gland or organ; pharyngo-tympanic tube; and skin. Orthologous to human DENND2C (DENN domain containing 2C). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in liver E14 (RPKM 3.1), liver E14.5 (RPKM 2.9) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dennd2c in Genome Data Viewer
    Location:
    3 F2.2; 3 45.25 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (103009954..103077054)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (103102647..103169738)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_08584 Neighboring gene neuroblastoma ras oncogene Neighboring gene STARR-seq mESC enhancer starr_08585 Neighboring gene adenosine monophosphate deaminase 1 Neighboring gene STARR-seq mESC enhancer starr_08586 Neighboring gene STARR-seq mESC enhancer starr_08590 Neighboring gene STARR-seq mESC enhancer starr_08592 Neighboring gene STARR-positive B cell enhancer mm9_chr3:102975364-102975665 Neighboring gene BCAS2 pre-mRNA processing factor Neighboring gene STARR-seq mESC enhancer starr_08594 Neighboring gene predicted gene, 40113

    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. DENN domain proteins: regulators of Rab GTPases. Marat AL, et al. J Biol Chem, 2011 Apr 22. PMID 21330364, Free PMC Article
    2. Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons. Del Villar K, et al. Proc Natl Acad Sci U S A, 2004 Mar 23. PMID 15007167, Free PMC Article
    3. A novel view of the transcriptome revealed from gene trapping in mouse embryonic stem cells. Roma G, et al. Genome Res, 2007 Jul. PMID 17540781, Free PMC Article
    4. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. Yoshimura S, et al. J Cell Biol, 2010 Oct 18. PMID 20937701, Free PMC Article
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DENN domain-containing protein 2C
    Names
    DENN/MADD domain containing 2C

    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_001356383.1 → NP_001343312.1  DENN domain-containing protein 2C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC150894, BC060666
      Related
      ENSMUST00000173037.8
      Conserved Domains (3) summary
      smart00801
      Location:365 → 431
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:39 → 126
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:136 → 320
      DENN; DENN (AEX-3) domain

    2. NM_001384113.1 → NP_001371042.1  DENN domain-containing protein 2C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC150894
      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      UniProtKB/TrEMBL
      E9Q4E4
      Related
      ENSMUSP00000134008.2, ENSMUST00000173206.8
      Conserved Domains (3) summary
      smart00801
      Location:807 → 873
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 762
      DENN; DENN (AEX-3) domain

    3. NM_177857.2 → NP_808525.2  DENN domain-containing protein 2C isoform 1

      See identical proteins and their annotated locations for NP_808525.2

      Status: VALIDATED

      Source sequence(s)
      BC060666
      Consensus CDS
      CCDS38572.2
      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      UniProtKB/TrEMBL
      E9Q4E4
      Related
      ENSMUSP00000127187.3, ENSMUST00000172288.3
      Conserved Domains (3) summary
      smart00801
      Location:807 → 873
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 762
      DENN; DENN (AEX-3) domain

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      103009954..103077054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501605.5 → XP_006501668.1  DENN domain-containing protein 2C isoform X2

      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      Conserved Domains (3) summary
      smart00801
      Location:793 → 859
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 754
      DENN; DENN (AEX-3) domain

    2. XM_006501604.3 → XP_006501667.1  DENN domain-containing protein 2C isoform X1

      See identical proteins and their annotated locations for XP_006501667.1

      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      UniProtKB/TrEMBL
      E9Q4E4
      Conserved Domains (3) summary
      smart00801
      Location:807 → 873
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 762
      DENN; DENN (AEX-3) domain

    3. XM_030252655.2 → XP_030108515.1  DENN domain-containing protein 2C isoform X1

      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      UniProtKB/TrEMBL
      E9Q4E4
      Conserved Domains (3) summary
      smart00801
      Location:807 → 873
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 762
      DENN; DENN (AEX-3) domain

    4. XM_006501602.4 → XP_006501665.1  DENN domain-containing protein 2C isoform X1

      See identical proteins and their annotated locations for XP_006501665.1

      UniProtKB/Swiss-Prot
      Q3T9X2, Q3UV30, Q6P9P8, Q80V46
      UniProtKB/TrEMBL
      E9Q4E4
      Conserved Domains (3) summary
      smart00801
      Location:807 → 873
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:481 → 568
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:578 → 762
      DENN; DENN (AEX-3) domain

    RNA

    1. XR_004941337.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9P8.1 GenPept UniProtKB/Swiss-Prot:Q6P9P8

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