Version 5.4
Homo sapiens Gene: DDHD2
Summary
InnateDB Gene IDBG-17522.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DDHD2
Gene Name DDHD domain containing 2
Synonyms iPLA(1)gamma; SAMWD1; SPG54
Species Homo sapiens
Ensembl Gene ENSG00000085788
Encoded Proteins
IDBP-235952
DDHD domain containing 2
IDBP-474475
DDHD domain containing 2
IDBP-479733
DDHD domain containing 2
IDBP-588978
DDHD domain containing 2
IDBP-588420
DDHD domain containing 2
IDBP-600586
DDHD domain containing 2
IDBP-602380
DDHD domain containing 2
IDBP-586206
DDHD domain containing 2
IDBP-590598
DDHD domain containing 2
IDBP-586086
DDHD domain containing 2
IDBP-588512
DDHD domain containing 2
IDBP-590997
DDHD domain containing 2
IDBP-585435
DDHD domain containing 2
IDBP-598687
DDHD domain containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:38225218-38275558
Strand Forward strand
Band p11.23
Transcripts
ENST00000397166 ENSP00000380352
ENST00000519857
ENST00000520272 ENSP00000429932
ENST00000517385 ENSP00000429017
ENST00000520176
ENST00000527834 ENSP00000432433
ENST00000533100 ENSP00000432678
ENST00000526237 ENSP00000436994
ENST00000526370
ENST00000528358 ENSP00000433118
ENST00000529642 ENSP00000436444
ENST00000532222 ENSP00000433578
ENST00000527415 ENSP00000432024
ENST00000532106 ENSP00000437097
ENST00000528888
ENST00000531344
ENST00000528504
ENST00000529845 ENSP00000431638
ENST00000528148
ENST00000526144 ENSP00000437029
ENST00000524545
ENST00000528613 ENSP00000435040
ENST00000526071
ENST00000529872
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0008219 cell death
GO:0016042 lipid catabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000061313
View Gene Order
ENSBTAG00000013145
Not yet available
Cross-References
SwissProt
TrEMBL E9PPN2
UniProt Splice Variant
Entrez Gene 23259
UniGene Hs.434966 Hs.636629 Hs.734333
RefSeq NM_001164232 NM_015214 XM_005273457
HUGO HGNC:29106
OMIM 615003
CCDS CCDS34883
HPRD 16788
IMGT
EMBL AC084024 AC087362
GenPept
RNA Seq Atlas 23259

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca