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    Ddhd2 DDHD domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 72108, updated on 31-Jan-2019

    Summary

    Official Symbol
    Ddhd2provided by MGI
    Official Full Name
    DDHD domain containing 2provided by MGI
    Primary source
    MGI:MGI:1919358
    See related
    Ensembl:ENSMUSG00000061313
    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
    SAMWD1; mKIAA0725; 2010305K11Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 6.9), subcutaneous fat pad adult (RPKM 6.9) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ddhd2 in Genome Data Viewer
    Location:
    8; 8 A2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (25725324..25754407, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (26835796..26864752, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene phospholipid phosphatase 5 Neighboring gene BCL2-associated athanogene 4 Neighboring gene electron transferring flavoprotein, alpha polypeptide pseudogene Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    triglyceride lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride lipase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid droplet organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    macromolecule metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    triglyceride catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule organizing center ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    phospholipase DDHD2
    Names
    DDHD domain-containing protein 2
    SAM, WWE and DDHD domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_001361595.1NP_001348524.1  phospholipase DDHD2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC156990
      Conserved Domains (3) summary
      pfam02825
      Location:42112
      WWE; WWE domain
      pfam02862
      Location:417606
      DDHD; DDHD domain
      cl15755
      Location:383447
      SAM_superfamily; SAM (Sterile alpha motif )
    2. NM_028102.1NP_082378.1  phospholipase DDHD2 isoform 1

      See identical proteins and their annotated locations for NP_082378.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC156990, AK079311, BC046229, BY790733, CN456157
      Consensus CDS
      CCDS52529.1
      UniProtKB/Swiss-Prot
      Q80Y98
      Related
      ENSMUSP00000033975.6, ENSMUST00000033975.7
      Conserved Domains (4) summary
      smart00454
      Location:383447
      SAM; Sterile alpha motif
      pfam02825
      Location:42112
      WWE; WWE domain
      pfam02862
      Location:487687
      DDHD; DDHD domain
      cl15755
      Location:383447
      SAM_superfamily; SAM (Sterile alpha motif )

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      25725324..25754407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509197.3XP_006509260.2  phospholipase DDHD2 isoform X1

      See identical proteins and their annotated locations for XP_006509260.2

      UniProtKB/Swiss-Prot
      Q80Y98
      Conserved Domains (4) summary
      smart00454
      Location:383447
      SAM; Sterile alpha motif
      pfam02825
      Location:42112
      WWE; WWE domain
      pfam02862
      Location:487687
      DDHD; DDHD domain
      cl15755
      Location:383447
      SAM_superfamily; SAM (Sterile alpha motif )
    2. XM_011242160.2XP_011240462.1  phospholipase DDHD2 isoform X2

      Conserved Domains (3) summary
      pfam02825
      Location:42112
      WWE; WWE domain
      pfam02862
      Location:455655
      DDHD; DDHD domain
      cl15755
      Location:379418
      SAM_superfamily; SAM (Sterile alpha motif )
    3. XM_006509198.3XP_006509261.1  phospholipase DDHD2 isoform X1

      See identical proteins and their annotated locations for XP_006509261.1

      UniProtKB/Swiss-Prot
      Q80Y98
      Conserved Domains (4) summary
      smart00454
      Location:383447
      SAM; Sterile alpha motif
      pfam02825
      Location:42112
      WWE; WWE domain
      pfam02862
      Location:487687
      DDHD; DDHD domain
      cl15755
      Location:383447
      SAM_superfamily; SAM (Sterile alpha motif )
    4. XM_011242164.2XP_011240466.1  phospholipase DDHD2 isoform X4

      Conserved Domains (3) summary
      smart00454
      Location:164228
      SAM; Sterile alpha motif
      pfam02862
      Location:268468
      DDHD; DDHD domain
      cl15755
      Location:164228
      SAM_superfamily; SAM (Sterile alpha motif )
    5. XM_011242163.1XP_011240465.1  phospholipase DDHD2 isoform X3

      Conserved Domains (3) summary
      smart00454
      Location:169233
      SAM; Sterile alpha motif
      pfam02862
      Location:273473
      DDHD; DDHD domain
      cl15755
      Location:169233
      SAM_superfamily; SAM (Sterile alpha motif )
    6. XM_006509200.3XP_006509263.2  phospholipase DDHD2 isoform X5

      Conserved Domains (2) summary
      PHA02578
      Location:88153
      53; baseplate wedge subunit; Provisional
      pfam02825
      Location:42112
      WWE; WWE domain

    RNA

    1. XR_001778473.1 RNA Sequence

    2. XR_001778471.1 RNA Sequence

    3. XR_378791.3 RNA Sequence

    4. XR_001778472.1 RNA Sequence

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