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Aliases for DDHD2 Gene

Aliases for DDHD2 Gene

  • DDHD Domain Containing 2 2 3
  • SAM, WWE And DDHD Domain-Containing Protein 1 3 4
  • KIAA0725 4 6
  • SAMWD1 3 4
  • SPG54 3 6
  • Sec23p-Interacting Protein P125-Like Phosphatidic Acid-Preferring Phospholipase A1 3
  • SAM, WWE And DDHD Domain Containing 1 2
  • Intracellular Phospholipase A1gamma 3
  • DDHD Domain-Containing Protein 2 4
  • Phospholipase DDHD2 3
  • PA-PLA1 Like 3
  • IPLA(1)Gamma 3
  • EC 3.1.1.- 4
  • KIAA0725p 4

External Ids for DDHD2 Gene

Previous HGNC Symbols for DDHD2 Gene

  • SAMWD1

Previous GeneCards Identifiers for DDHD2 Gene

  • GC08P038107
  • GC08P036623

Summaries for DDHD2 Gene

Entrez Gene Summary for DDHD2 Gene

  • 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]

GeneCards Summary for DDHD2 Gene

DDHD2 (DDHD Domain Containing 2) is a Protein Coding gene. Diseases associated with DDHD2 include spastic paraplegia 54, autosomal recessive. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is SEC23IP.

UniProtKB/Swiss-Prot for DDHD2 Gene

  • Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDHD2 Gene

Genomics for DDHD2 Gene

Regulatory Elements for DDHD2 Gene

Genomic Location for DDHD2 Gene

Start:
38,225,218 bp from pter
End:
38,275,558 bp from pter
Size:
50,341 bases
Orientation:
Plus strand

Genomic View for DDHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDHD2 Gene

Proteins for DDHD2 Gene

  • Protein details for DDHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94830-DDHD2_HUMAN
    Recommended name:
    Phospholipase DDHD2
    Protein Accession:
    O94830
    Secondary Accessions:
    • B3KWV2
    • B3KXB5
    • Q9H8X7

    Protein attributes for DDHD2 Gene

    Size:
    711 amino acids
    Molecular mass:
    81032 Da
    Quaternary structure:
    • Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD1
    SequenceCaution:
    • Sequence=AAH10504.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14470.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DDHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDHD2 Gene

Proteomics data for DDHD2 Gene at MOPED

Post-translational modifications for DDHD2 Gene

  • Ubiquitination at Lys587
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DDHD2 Gene

Domains for DDHD2 Gene

Gene Families for DDHD2 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for DDHD2 Gene

Graphical View of Domain Structure for InterPro Entry

O94830

UniProtKB/Swiss-Prot:

DDHD2_HUMAN :
  • O94830
Domain:
  • SAM and DDHD domains together are required for phospholipid binding
  • Contains 1 DDHD domain.
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 WWE domain.
Family:
  • Belongs to the PA-PLA1 family.
genes like me logo Genes that share domains with DDHD2: view

Function for DDHD2 Gene

Molecular function for DDHD2 Gene

UniProtKB/Swiss-Prot Function: Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.

Enzyme Numbers (IUBMB) for DDHD2 Gene

Gene Ontology (GO) - Molecular Function for DDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DDHD2: view

miRNA for DDHD2 Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for DDHD2 Gene

Localization for DDHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDHD2 Gene

Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus, cis-Golgi network. Note=Cycles between the Golgi apparatus and the cytosol. DDHD2 recruitment to the Golgi/endoplasmic reticulum-Golgi intermediate compartment (ERGIC) is regulated by the levels of phosphoinositides, including PI(4)P.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDHD2 Gene COMPARTMENTS Subcellular localization image for DDHD2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
golgi apparatus 3
nucleus 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with DDHD2: view

Pathways for DDHD2 Gene

SuperPathways for DDHD2 Gene

No Data Available

Interacting Proteins for DDHD2 Gene

Gene Ontology (GO) - Biological Process for DDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with DDHD2: view

No data available for Pathways by source for DDHD2 Gene

Compounds for DDHD2 Gene

(12) HMDB Compounds for DDHD2 Gene

Compound Synonyms Cas Number PubMed IDs
PA(16:0/16:0)
  • Dipalmitoylphosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • PA(16:0/18:1n7)
Not Available
PA(16:0/18:1(9Z))
  • PA(16:0/18:1n9)
Not Available
PA(16:0/18:2(9Z,12Z))
  • PA(34:2)
Not Available
PA(16:0e/18:0)
  • 2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
Not Available
genes like me logo Genes that share compounds with DDHD2: view

Transcripts for DDHD2 Gene

Unigene Clusters for DDHD2 Gene

DDHD domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDHD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a ·
SP1: - - - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - - - - - -
SP6: - -
SP7: - -
SP8: -
SP9: -
SP10:
SP11:

ExUns: 16b ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DDHD2 Gene

GeneLoc Exon Structure for
DDHD2
ECgene alternative splicing isoforms for
DDHD2

Expression for DDHD2 Gene

mRNA expression in normal human tissues for DDHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDHD2 Gene

SOURCE GeneReport for Unigene cluster for DDHD2 Gene Hs.434966

mRNA Expression by UniProt/SwissProt for DDHD2 Gene

O94830-DDHD2_HUMAN
Tissue specificity: Widely expressed (at protein level).
genes like me logo Genes that share expressions with DDHD2: view

No data available for mRNA differential expression in normal tissues for DDHD2 Gene

Orthologs for DDHD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DDHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDHD2 35
  • 99.9 (n)
  • 100 (a)
DDHD2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDHD2 35
  • 92.45 (n)
  • 93.68 (a)
DDHD2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDHD2 35
  • 93.34 (n)
  • 94.66 (a)
DDHD2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddhd2 35
  • 88.48 (n)
  • 90.5 (a)
Ddhd2 16
Ddhd2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDHD2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDHD2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddhd2 35
  • 88.92 (n)
  • 90.95 (a)
chicken
(Gallus gallus)
Aves DDHD2 35
  • 68.17 (n)
  • 72.71 (a)
DDHD2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.15095 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ddhd2 35
  • 65.75 (n)
  • 66.67 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5102 35
zebrafish
(Danio rerio)
Actinopterygii ddhd2 35
  • 62.05 (n)
  • 61.28 (a)
ddhd2 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002379 35
  • 51.39 (n)
  • 49.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8552 35
  • 53.77 (n)
  • 48.36 (a)
CG8552 36
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3376 36
  • 43 (a)
OneToMany
Species with no ortholog for DDHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DDHD2 Gene

ENSEMBL:
Gene Tree for DDHD2 (if available)
TreeFam:
Gene Tree for DDHD2 (if available)

Paralogs for DDHD2 Gene

Paralogs for DDHD2 Gene

genes like me logo Genes that share paralogs with DDHD2: view

Variants for DDHD2 Gene

Sequence variations from dbSNP and Humsavar for DDHD2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs901943 -- 38,253,779(-) CTACA(G/T)CTATG intron-variant
rs901944 -- 38,253,772(-) TATGA(A/T)ATATC intron-variant
rs901945 -- 38,253,766(-) ATATC(G/T)ATGAA intron-variant
rs1128951 -- 38,260,603(+) ATACG(A/G)ACATT utr-variant-3-prime, intron-variant
rs1873089 -- 38,248,479(-) CACCA(A/G)TCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DDHD2 Gene

Variant ID Type Subtype PubMed ID
nsv438049 CNV Loss 16468122
esv2658916 CNV Deletion 23128226

Relevant External Links for DDHD2 Gene

HapMap Linkage Disequilibrium report
DDHD2
Human Gene Mutation Database (HGMD)
DDHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDHD2 Gene

Disorders for DDHD2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DDHD2 Gene including...

Search for DDHD2 Gene in MalaCards »

(1) OMIM Diseases for DDHD2 Gene (615003)

UniProtKB/Swiss-Prot

DDHD2_HUMAN
  • Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG54 patients have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. {ECO:0000269 PubMed:23176823}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with DDHD2: view

Publications for DDHD2 Gene

  1. 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. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  2. A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125. (PMID: 11788596) Nakajima K. … Tani K. (J. Biol. Chem. 2002) 2 3 4
  3. Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells. (PMID: 20932832) Sato S. … Tani K. (FEBS Lett. 2010) 2 3 4
  4. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. (PMID: 22922100) Inoue H. … Tani K. (Biochim. Biophys. Acta 2012) 3 4
  5. 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. (PMID: 19632984) Morikawa R.K. … Arai H. (J. Biol. Chem. 2009) 2 3

Products for DDHD2 Gene

Sources for DDHD2 Gene

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