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] See more...

Aliases for DDHD2 Gene

Aliases for DDHD2 Gene

  • DDHD Domain Containing 2 2 3 5
  • SAM, WWE And DDHD Domain-Containing Protein 1 3 4
  • Phospholipase DDHD2 3 4
  • SAMWD1 3 4
  • 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
  • PA-PLA1 Like 3
  • IPLA(1)Gamma 3
  • EC 3.1.1.- 4
  • KIAA0725p 4
  • KIAA0725 4
  • SPG54 3

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 and Epilepsy, Idiopathic Generalized. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is SEC23IP.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for DDHD2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDHD2 Gene

Genomics for DDHD2 Gene

GeneHancer (GH) Regulatory Elements for DDHD2 Gene

Promoters and enhancers for DDHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDHD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDHD2

Top Transcription factor binding sites by QIAGEN in the DDHD2 gene promoter:
  • AML1a
  • Cart-1
  • CUTL1
  • Pax-5
  • POU2F1
  • POU2F1a
  • Sp1
  • TBP

Genomic Locations for DDHD2 Gene

Genomic Locations for DDHD2 Gene
chr8:38,225,218-38,275,558
(GRCh38/hg38)
Size:
50,341 bases
Orientation:
Plus strand
chr8:38,082,736-38,133,076
(GRCh37/hg19)
Size:
50,341 bases
Orientation:
Plus strand

Genomic View for DDHD2 Gene

Genes around DDHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14470.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DDHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDHD2 Gene

Post-translational modifications for DDHD2 Gene

  • Ubiquitination at Lys587
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DDHD2 Gene

Domains & Families for DDHD2 Gene

Gene Families for DDHD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DDHD2 Gene

Blocks:
  • Sterile alpha motif SAM
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDHD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45096 fis, clone BRAWH3030910, highly similar to Homo sapiens DDHD domain containing 2 (DDHD2), mRNA (B3KXB5_HUMAN)
  • cDNA FLJ52893, highly similar to Homo sapiens DDHD domain containing 2 (DDHD2), mRNA (B4DSR3_HUMAN)
  • SAM, WWE and DDHD domain-containing protein 1 (DDHD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94830

UniProtKB/Swiss-Prot:

DDHD2_HUMAN :
  • SAM and DDHD domains together are required for phospholipid binding.
  • Belongs to the PA-PLA1 family.
Domain:
  • SAM and DDHD domains together are required for phospholipid binding.
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

Phenotypes From GWAS Catalog for DDHD2 Gene

Gene Ontology (GO) - Molecular Function for DDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA 21873635
GO:0004806 triglyceride lipase activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DDHD2: view
genes like me logo Genes that share phenotypes with DDHD2: view

Human Phenotype Ontology for DDHD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDHD2 Gene

MGI Knock Outs for DDHD2:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDHD2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
cytoskeleton 4
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDHD2 Gene

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

Pathways & Interactions for DDHD2 Gene

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

Gene Ontology (GO) - Biological Process for DDHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0007626 locomotory behavior IEA --
GO:0008542 visual learning IEA --
genes like me logo Genes that share ontologies with DDHD2: view

No data available for SIGNOR curated interactions for DDHD2 Gene

Drugs & Compounds for DDHD2 Gene

(12) Additional Compounds for DDHD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
PA(16:0/18:1(9Z))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with DDHD2: view

Transcripts for DDHD2 Gene

mRNA/cDNA for DDHD2 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for DDHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDHD2 Gene

This gene is overexpressed in Brain (13.9), Spinal cord (11.2), Frontal cortex (10.4), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDHD2 Gene



Protein tissue co-expression partners for DDHD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDHD2

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).

Evidence on tissue expression from TISSUES for DDHD2 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDHD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns 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 31 30
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DDHD2 31 30
  • 93.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DDHD2 31 30
  • 92.45 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddhd2 30
  • 88.92 (n)
mouse
(Mus musculus)
Mammalia Ddhd2 17 31 30
  • 88.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDHD2 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDHD2 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDHD2 31 30
  • 68.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 68 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ddhd2 30
  • 65.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15095 30
zebrafish
(Danio rerio)
Actinopterygii ddhd2 31 30
  • 62.05 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5102 30
fruit fly
(Drosophila melanogaster)
Insecta CG8552 31 30
  • 53.77 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002379 30
  • 51.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3376 31
  • 43 (a)
OneToMany
Species where no ortholog for DDHD2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DDHD2: view image

Paralogs for DDHD2 Gene

Paralogs for DDHD2 Gene

(1) SIMAP similar genes for DDHD2 Gene using alignment to 13 proteins:

  • DDHD2_HUMAN
  • B3KXB5_HUMAN
  • E9PIF5_HUMAN
  • E9PK57_HUMAN
  • E9PKE6_HUMAN
  • E9PM60_HUMAN
  • E9PP45_HUMAN
  • E9PPH8_HUMAN
  • E9PPN2_HUMAN
  • E9PQY9_HUMAN
  • H0YE64_HUMAN
  • H0YF17_HUMAN
  • H0YF30_HUMAN
genes like me logo Genes that share paralogs with DDHD2: view

Variants for DDHD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDHD2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
39676 Pathogenic: Spastic paraplegia 54, autosomal recessive 38,253,035(+) C/CT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
39677 Pathogenic: Spastic paraplegia 54, autosomal recessive 38,260,041(+) GA/G FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638323 Pathogenic: Spastic paraplegia 54, autosomal recessive 38,234,507(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
639658 Uncertain Significance: Spastic paraplegia 54, autosomal recessive 38,246,236(+) C/T MISSENSE_VARIANT
645719 Uncertain Significance: Spastic paraplegia 54, autosomal recessive 38,247,717(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DDHD2 Gene

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

Variant ID Type Subtype PubMed ID
dgv7162n100 CNV gain 25217958
dgv7163n100 CNV gain 25217958
dgv7164n100 CNV gain 25217958
dgv7165n100 CNV loss 25217958
esv2658916 CNV deletion 23128226
esv3616920 CNV loss 21293372
nsv1020415 CNV gain+loss 25217958
nsv1029521 CNV gain 25217958
nsv438049 CNV loss 16468122

Variation tolerance for DDHD2 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.49; 82.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDHD2 Gene

Human Gene Mutation Database (HGMD)
DDHD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDHD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDHD2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for DDHD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DDHD2 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DDHD2

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

No data available for Genatlas for DDHD2 Gene

Publications for DDHD2 Gene

  1. Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells. (PMID: 20932832) Sato S … Tani K (FEBS letters 2010) 2 3 4 54
  2. A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125. (PMID: 11788596) Nakajima K … Tani K (The Journal of biological chemistry 2002) 2 3 4 54
  3. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  4. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. (PMID: 23176823) Schuurs-Hoeijmakers JH … de Brouwer AP (American journal of human genetics 2012) 3 4 54
  5. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. (PMID: 22922100) Inoue H … Tani K (Biochimica et biophysica acta 2012) 3 4 54

Products for DDHD2 Gene