DDHD2 Gene Summary [Human]
This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | DDHD2 |
| Official Name | DDHD domain containing 2 [Source:HGNC Symbol;Acc:HGNC:29106] |
| Ensembl ID | ENSG00000085788 |
| Bio databases IDs | |
| Aliases | DDHD domain containing 2, intracellular phospholipase A1 gamma |
| Synonyms | 2010305K11Rik, DDHD domain containing 2, iPLA1A, iPLA1gamma, iPLA(1)gamma, iPLA(1)γ, LOC684666, mKIAA0725, p125B, SAMWD1, SPG54 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DDHD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- SAM (Sterile alpha motif )
- SAM domain (Sterile alpha motif)
- DDHD domain
- WWE domain
- enzyme
- triacylglycerol lipase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- psoriasis
- hypertension
- autosomal recessive spastic paraplegia type 54
- hereditary spastic paraplegia
- breast cancer
- hereditary disorder
- ductal breast carcinoma
- ductal breast cancer
regulates
- triacylglycerol
- lipid
- 20:4/36:2 triglyceride
- 22:6/34:0 triglyceride
- 20:4/34:1 triglyceride
- 18:1/34:1 triglyceride
- monoacylglycerol
- 16:0/36:1 triglyceride
- 18:0/38:4 triglyceride
- 18:2/34:2 triglyceride
role in cell
- accumulation in
- accumulation
- abnormal morphology
- organization
- hydrolysis in
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- centrosome
- Golgi Apparatus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DDHD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- locomotory behavior
- lipid particle organization
- visual learning
- triglyceride catabolic process
- positive regulation of mitochondrial fission
- mitochondrial fission
Cellular Component
Where in the cell the gene product is active
- centriolar satellite
- membrane
- cytosol
- Golgi apparatus
- ER to Golgi transport vesicle
- endoplasmic reticulum-Golgi intermediate compartment
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- triglyceride lipase activity