• Gene id: 23259

Gene Summary

• Gene Symbol: DDHD2   Gene   UCSC   Ensembl
• Aliases: SAMWD1, SPG54, iPLA(1)gamma
• Gene name: DDHD domain containing 2
• Alternate names: phospholipase DDHD2, PA-PLA1 like, SAM, WWE and DDHD domain-containing protein 1, intracellular phospholipase A1gamma, sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1,
• Gene location: 8p11.23 (38231490: 38273921)     Exons: 22     NC_000008.11
• Gene summary(Entrez): 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 recess
• OMIM: 615003

Protein Summary

• Protein general information: O94830  
  • Name: Phospholipase DDHD2 (EC 3.1.1. ) (DDHD domain containing protein 2) (KIAA0725p) (SAM, WWE and DDHD domain containing protein 1)
  • Length: 711  
  • Mass: 81032
  • Tissue specificity: Widely expressed (at protein level). {ECO
• Sequence:

  MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEAYSSGK
  GCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETYMLAVTLDEWK
  KKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGP
  ACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFT
  NDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDILTNQKDSLGDIDSEK
  DSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCTDRDLQEIGIPLGPRKKILNYFSTRKNSMGI
  KRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNY
  RFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKS
  FTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYL
  FALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ

• Structural information:
  • Protein Domains: (30..11-)
    (/note="WWE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00248-)
    (385..44-)
    (/note="SAM-)
    (495..70-)
    (/note="DDHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00378"-)
  • Interpro: IPR004177  IPR001660  IPR013761  IPR004170  
  • Prosite: PS51043 PS50918
  • STRING: ENSP00000380352
• Other Databases: GeneCards:  DDHD2  Malacards:  DDHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004806	triglyceride lipase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030134	COPII-coated ER to Golgi transport vesicle	IBA	cellular component
GO:0004620	phospholipase activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0019433	triglyceride catabolic process	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0090141	positive regulation of mitochondrial fission	IEA	biological process
GO:0034389	lipid droplet organization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)