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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8; 8 A2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
109	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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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

Go to the top of the page Help

Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

AW045471 (e-PCR)
- UniSTS:165132

NoName (e-PCR)
- UniSTS:235850

NoName (e-PCR)
- UniSTS:235851

RH126933 (e-PCR)
- UniSTS:167560

Homology

Homologs of the Ddhd2 gene: The Ddhd2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 480 organisms have orthologs with human gene Ddhd2
Orthologs

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	PubMed
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	PubMed
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

Go to the top of the page Help

Preferred Names: phospholipase DDHD2

Names: DDHD domain-containing protein 2; SAM, WWE and DDHD domain-containing protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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)

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 )
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

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: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

26215351..26244502 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509197.5 → XP_006509260.2 phospholipase DDHD2 isoform X1

See identical proteins and their annotated locations for XP_006509260.2

UniProtKB/Swiss-Prot

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

See identical proteins and their annotated locations for XP_006509261.1

UniProtKB/Swiss-Prot

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 )
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 )
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
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