Property Summary

NCBI Gene PubMed Count 23
PubMed Score 15.31
PubTator Score 16.18

Knowledge Summary


No data available


  Differential Expression (10)

Disease log2 FC p
Waldenstrons macroglobulinemia -1.351 7.3e-03
astrocytic glioma -1.400 1.2e-02
oligodendroglioma -1.100 3.8e-02
glioblastoma -2.000 2.5e-06
medulloblastoma, large-cell -1.600 2.1e-03
Amyotrophic Lateral Sclerosis 1.050 5.0e-05
adult high grade glioma -1.800 2.5e-05
group 4 medulloblastoma -1.200 1.0e-03
pilocytic astrocytoma -1.400 2.3e-06
ovarian cancer -2.300 1.9e-06

Gene RIF (10)

26113134 Truncating mutation has been found in the DDHD2 gene in a large consanguineous family with hereditary spastic paraplegia and intellectual disability.
25653011 Our results provide an extensive genome wide set of targets for miR-503, miR-103, and miR-494, and suggest that miR-503 may act as a tumor suppressor in breast cancer by its direct non-canonical targeting of DDHD2.
25417924 Three missense mutations including p.Val220Phe of DDHD2 significantly reduced PLA1 activity and indicated that the loss of PLA1 activity significantly contributes to SPG54 pathogenicity.
24517879 study reports two Italian brothers with autosomal recessive hereditary spastic paraplegia with thin corpus callosum due to two deleterious compound heterozygous missense mutations that have been identified in the DDHD2 gene by exome sequencing
24337409 The DDHD2 gene shows a low mutation frequency in a general population of complicated hereditary spastic paraparesis
23486545 Two deleterious mutations in the phospholipase DDHD2 gene in two families with complicated Hereditary spastic paraplegias.
23176823 mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease.
22922100 KIAAO725p is targeted to specific organelle membranes in a phosphoinositide-dependent manner.
20932832 KIAA0725p is localized in the Golgi [KIAA0725p]
19330026 Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53.

AA Sequence

TQGIFLDQPLQ                                                               701 - 711

Text Mined References (24)

PMID Year Title
26113134 2015 Truncating mutation in intracellular phospholipase A? gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
25653011 2015 miR-503 represses human cell proliferation and directly targets the oncogene DDHD2 by non-canonical target pairing.
25417924 2014 Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
24517879 2014 Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
23486545 2013 Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
23378048 2013 A lysophospholipid acyltransferase antagonist, CI-976, creates novel membrane tubules marked by intracellular phospholipase A1 KIAA0725p.
23176823 2012 Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
22922100 2012 Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.
20940404 2010 Transforming properties of 8p11-12 amplified genes in human breast cancer.
20932832 2010 Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells.
19632984 2009 Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor involved in coat protein complex I- and Rab6-independent retrograde transport between the endoplasmic reticulum and the Golgi complex.
19330026 2009 Co-amplified genes at 8p12 and 11q13 in breast tumors cooperate with two major pathways in oncogenesis.
18757432 2008 Characterization of the recurrent 8p11-12 amplicon identifies PPAPDC1B, a phosphatase protein, as a new therapeutic target in breast cancer.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15623529 2005 p125 is localized in endoplasmic reticulum exit sites and involved in their organization.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11788596 2002 A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.
9872452 1998 Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.