DDHD2 (DDHD domain containing 2)

2015-12-01  

Identity

HGNC
LOCATION
8p11.23
LOCUSID
ALIAS
SAMWD1,SPG54,iPLA(1)gamma,iPLA1gamma

Other Information

Locus ID:

NCBI: 23259
MIM: 615003
HGNC: 29106
Ensembl: ENSG00000085788

Variants:

dbSNP: 23259
ClinVar: 23259
TCGA: ENSG00000085788
COSMIC: DDHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085788ENST00000397166O94830
ENSG00000085788ENST00000517385O94830
ENSG00000085788ENST00000520272O94830
ENSG00000085788ENST00000526144H0YF17
ENSG00000085788ENST00000526237E9PPN2
ENSG00000085788ENST00000527415E9PIF5
ENSG00000085788ENST00000527834E9PQY9
ENSG00000085788ENST00000528358E9PM60
ENSG00000085788ENST00000528613H0YE64
ENSG00000085788ENST00000529642E9PP45
ENSG00000085788ENST00000529845E9PK57
ENSG00000085788ENST00000532106H0YF30
ENSG00000085788ENST00000532222E9PKE6
ENSG00000085788ENST00000533100E9PPH8

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231768232012Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.51
193300262009Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate with two major pathways in oncogenesis.44
229221002012Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.23
234865452013Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).23
209328322010Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells.17
243374092014Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.16
256530112015miR-503 represses human cell proliferation and directly targets the oncogene DDHD2 by non-canonical target pairing.11
292783262018Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets.10
254179242014Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.7
245178792014Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.5

Citation

Dessen P

DDHD2 (DDHD domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55538/ddhd2-(ddhd-domain-containing-2)