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

    Gene ID: 72108, updated on 8-May-2024

    Summary

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    Official Symbol
    Ddhd2provided by MGI
    Official Full Name
    DDHD domain containing 2provided by MGI
    Primary source
    MGI:MGI:1919358
    See related
    Ensembl:ENSMUSG00000061313 AllianceGenome:MGI:1919358
    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
    Summary
    Enables triglyceride lipase activity. Involved in lipid droplet organization and triglyceride catabolic process. Acts upstream of or within positive regulation of mitochondrial fission. Located in membrane. Used to study hereditary spastic paraplegia 54. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 54. Orthologous to human DDHD2 (DDHD domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 6.9), subcutaneous fat pad adult (RPKM 6.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A2; 8 14.17 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (26215351..26244502, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (25725324..25754474, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene predicted gene, 24992 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:26830817-26831000 Neighboring gene phospholipid phosphatase 5 Neighboring gene predicted gene, 17484 Neighboring gene BCL2-associated athanogene 4 Neighboring gene electron transferring flavoprotein, alpha polypeptide pseudogene

    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. Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis. Maruyama T, et al. Cell Death Dis, 2018 Jul 23. PMID 30038238, Free PMC Article
    2. Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets. Inloes JM, et al. Biochemistry, 2018 Feb 6. PMID 29278326, Free PMC Article
    3. The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. Inloes JM, et al. Proc Natl Acad Sci U S A, 2014 Oct 14. PMID 25267624, Free PMC Article
    4. Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. Baba T, et al. J Biol Chem, 2014 Apr 18. PMID 24599962, Free PMC Article
    5. Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Crozet F, et al. Genomics, 1997 Mar 1. PMID 9119401

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
      Title: The DDHD2-STXBP1 interaction mediates long-term memory via generation of saturated free fatty acids.
    2. Lipid droplets from brain tissue of DDHD2(-/-) mice contain both established LD-associated proteins identified previously in other organs and CNS-enriched proteins, including several proteins with genetic links to human neurological disease.
      Title: Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.
    3. DDHD2(-/-) mice show age-dependent triacylglycerol elevations in the central nervous system, but not in several peripheral tissues.
      Title: The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

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

    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_001361595.2 → NP_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)
      AC162367
      UniProtKB/TrEMBL
      A0A1B0GSA5
      Related
      ENSMUSP00000147859.4, ENSMUST00000211688.4
      Conserved Domains (3) summary
      pfam02825
      Location:42 → 112
      WWE; WWE domain
      pfam02862
      Location:417 → 606
      DDHD; DDHD domain
      cl15755
      Location:383 → 447
      SAM_superfamily; SAM (Sterile alpha motif )

    2. NM_028102.2 → NP_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)
      AC162367
      Consensus CDS
      CCDS52529.1
      UniProtKB/Swiss-Prot
      E9QKK2, Q0VF66, Q6A008, Q80Y98, Q9CVE9
      Related
      ENSMUSP00000033975.7, ENSMUST00000033975.9
      Conserved Domains (3) summary
      pfam02825
      Location:42 → 112
      WWE; WWE domain
      pfam02862
      Location:487 → 687
      DDHD; DDHD domain
      cl15755
      Location:383 → 447
      SAM_superfamily; SAM (Sterile alpha motif )

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      26215351..26244502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509197.5 → XP_006509260.2  phospholipase DDHD2 isoform X1

      See identical proteins and their annotated locations for XP_006509260.2

      UniProtKB/Swiss-Prot
      E9QKK2, Q0VF66, Q6A008, Q80Y98, Q9CVE9
      Conserved Domains (3) summary
      pfam02825
      Location:42 → 112
      WWE; WWE domain
      pfam02862
      Location:487 → 687
      DDHD; DDHD domain
      cl15755
      Location:383 → 447
      SAM_superfamily; SAM (Sterile alpha motif )

    2. XM_036154302.1 → XP_036010195.1  phospholipase DDHD2 isoform X4

      Conserved Domains (2) summary
      pfam02862
      Location:268 → 468
      DDHD; DDHD domain
      cl15755
      Location:164 → 228
      SAM_superfamily; SAM (Sterile alpha motif )

    3. XM_011242160.4 → XP_011240462.1  phospholipase DDHD2 isoform X2

      Conserved Domains (3) summary
      pfam02825
      Location:42 → 112
      WWE; WWE domain
      pfam02862
      Location:455 → 655
      DDHD; DDHD domain
      cl15755
      Location:379 → 418
      SAM_superfamily; SAM (Sterile alpha motif )

    4. XM_036154301.1 → XP_036010194.1  phospholipase DDHD2 isoform X4

      Conserved Domains (2) summary
      pfam02862
      Location:268 → 468
      DDHD; DDHD domain
      cl15755
      Location:164 → 228
      SAM_superfamily; SAM (Sterile alpha motif )

    5. XM_006509198.5 → XP_006509261.1  phospholipase DDHD2 isoform X1

      See identical proteins and their annotated locations for XP_006509261.1

      UniProtKB/Swiss-Prot
      E9QKK2, Q0VF66, Q6A008, Q80Y98, Q9CVE9
      Conserved Domains (3) summary
      pfam02825
      Location:42 → 112
      WWE; WWE domain
      pfam02862
      Location:487 → 687
      DDHD; DDHD domain
      cl15755
      Location:383 → 447
      SAM_superfamily; SAM (Sterile alpha motif )

    6. XM_011242163.3 → XP_011240465.1  phospholipase DDHD2 isoform X3

      Conserved Domains (2) summary
      pfam02862
      Location:273 → 473
      DDHD; DDHD domain
      cl15755
      Location:169 → 233
      SAM_superfamily; SAM (Sterile alpha motif )

    7. XM_036154303.1 → XP_036010196.1  phospholipase DDHD2 isoform X5

      Conserved Domains (2) summary
      pfam02825
      Location:44 → 99
      WWE; WWE domain
      cl26475
      Location:88 → 153
      Phage_gp53; Base plate wedge protein 53

    8. XM_006509200.5 → XP_006509263.2  phospholipase DDHD2 isoform X5

      Conserved Domains (2) summary
      pfam02825
      Location:44 → 99
      WWE; WWE domain
      cl26475
      Location:88 → 153
      Phage_gp53; Base plate wedge protein 53

    RNA

    1. XR_003947340.2 RNA Sequence

    2. XR_001778473.3 RNA Sequence

    3. XR_004934883.1 RNA Sequence

    4. XR_001778471.3 RNA Sequence

    5. XR_004934884.1 RNA Sequence

    6. XR_001778472.3 RNA Sequence

    7. XR_004934885.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80Y98.3 GenPept UniProtKB/Swiss-Prot:Q80Y98

    Gene LinkOut

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

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