Property Summary

NCBI Gene PubMed Count 23
Grant Count 7
R01 Count 6
Funding $414,202.6
PubMed Score 15.31
PubTator Score 16.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Waldenstrons macroglobulinemia -1.351 0.007
astrocytic glioma -1.400 0.012
oligodendroglioma -1.100 0.038
glioblastoma -2.000 0.000
medulloblastoma, large-cell -1.600 0.002
Amyotrophic Lateral Sclerosis 1.050 0.000
adult high grade glioma -1.800 0.000
group 4 medulloblastoma -1.200 0.001
pilocytic astrocytoma -1.400 0.000
ovarian cancer -2.300 0.000

Gene RIF (10)

PMID Text
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

MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFNSEDSQQLEEA      1 - 70
YSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGDKDNKYVPYSESFSQVLEETY     71 - 140
MLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDDWGSTPTEQGRPRTVKRGVENISVDIHCGEP    141 - 210
LQIDHLVFVVHGIGPACDLRFRSIVQCVNDFRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTG    211 - 280
VDVDLQRITLPSINRLRHFTNDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGH    281 - 350
SLGSLILFDILTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCT    351 - 420
DRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDYLDVGIGQVSV    421 - 490
KYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPFDPVAYRIEPMVVPGVEFEPM    491 - 560
LIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKSFTRAPYPALQASETPEETEAEPESTSEKPS    561 - 630
DVNTEETSVAVKEEVLPINVGMLNGGQRIDYVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQ    631 - 700
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.
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