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

Gene ID: 72108, updated on 21-Apr-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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (1) 

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

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