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DDHD2 Gene

protein-coding   GIFtS: 55
GCID: GC08P038107

DDHD Domain Containing 2

(Previous names: SAM, WWE and DDHD domain containing 1)
(Previous symbol: SAMWD1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DDHD Domain Containing 21 2     Intracellular Phospholipase A1gamma2
SAMWD11 2 3     PA-PLA1 Like2
SAM, WWE And DDHD Domain-Containing Protein 12 3     Phospholipase DDHD22
SPG542 5     Sec23p-Interacting Protein P125-Like Phosphatidic Acid-Preferring
Phospholipase A12
KIAA07253 5     EC 3.1.1.-3
SAM, WWE And DDHD Domain Containing 11     KIAA0725p3
iPLA(1)gamma2     DDHD Domain-Containing Protein 23

External Ids:    HGNC: 291061   Entrez Gene: 232592   Ensembl: ENSG000000857887   OMIM: 6150035   UniProtKB: O948303   

Export aliases for DDHD2 gene to outside databases

Previous GC identifers: GC08P038208 GC08P036623


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 endometritis. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is DDHD1.

UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDHD2 gene promoter:
         TBP   AML1a   POU2F1   Pax-5   Sp1   POU2F1a   Cart-1   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDHD2 promoter sequence
   Search Chromatin IP Primers for DDHD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDHD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.23   Ensembl cytogenetic band:  8p11.23   HGNC cytogenetic band: 8p11.23

DDHD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDHD2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P038107:  view genomic region     (about GC identifiers)

Start:
38,082,736 bp from pter      End:
38,133,076 bp from pter
Size:
50,341 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830 (See protein sequence)
Recommended Name: Phospholipase DDHD2  
Size: 711 amino acids; 81032 Da
Subunit: Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD1
Caution: It is uncertain whether Met-1 or Met-31 is the initiator
Sequence caution: Sequence=AAH10504.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14470.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KWV2 Q9H8X7

Explore the universe of human proteins at neXtProt for DDHD2: NX_O94830

Explore proteomics data for DDHD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys587
  • Modification sites at PhosphoSitePlus

  • See DDHD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001157704.1  NP_001157706.1  NP_056029.2  

    ENSEMBL proteins: 
     ENSP00000432433   ENSP00000380352   ENSP00000432678   ENSP00000436994   ENSP00000433118  
     ENSP00000436444   ENSP00000433578   ENSP00000429932   ENSP00000432024   ENSP00000437097  
     ENSP00000429017   ENSP00000431638   ENSP00000437029   ENSP00000435040  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR004170 WWE-dom
     IPR021129 SAM_type1
     IPR004177 DDHD
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry O94830

    ProtoNet protein and cluster: O94830

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830
    Domain: SAM and DDHD domains together are required for phospholipid binding
    Similarity: Belongs to the PA-PLA1 family
    Similarity: Contains 1 DDHD domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain
    Similarity: Contains 1 WWE domain


    DDHD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDHD2_HUMAN, O94830
    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 Number (IUBMB): EC 3.1.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016787hydrolase activity IEA--
    GO:0046872metal ion binding IEA--
         
    DDHD2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDHD2
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    miRNA
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    miRTarBase miRNAs that target DDHD2:
    hsa-mir-10b-5p (MIRT047446), hsa-mir-99b-5p (MIRT044196), hsa-mir-21-5p (MIRT030682), hsa-mir-24-3p (MIRT030366), hsa-mir-16-5p (MIRT031442)

    Block miRNA regulation of human, mouse, rat DDHD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DDHD2 (see all 27):
    hsa-miR-495 hsa-miR-607 hsa-miR-148b hsa-miR-2110 hsa-miR-25 hsa-miR-548l hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidDDHD2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDHD2

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    Sino Biological Human cDNA Clone for DDHD2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDHD2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDHD2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DDHD2_HUMAN, O94830: 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: 

    CompartmentConfidence
    cytosol5
    cytoskeleton4
    golgi apparatus3
    nucleus2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005813centrosome ----
    GO:0005815microtubule organizing center IDA--

    DDHD2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDHD2
    Interactions:

        Search GeneGlobe Interaction Network for DDHD2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for DDHD2 (O948302, 3 ENSP000003803524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPB1P536182, 3, ENSP000002499234MINT-8019765 I2D: score=1 STRING: ENSP00000249923
    GOLGA2ENSP000004160974STRING: ENSP00000416097
    UBCENSP000003448184STRING: ENSP00000344818
    --Q5PXD53, 2MINT-8019775 I2D: score=1 
    --Q5PXD53, 2MINT-8019775 I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0016042lipid catabolic process IEA--

    DDHD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DDHD2

    Selected HMDB Compounds for DDHD2 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(9Z))PA(36:2) (see all 10)14268-17-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DDHD2 gene (3 alternative transcripts): 
    NM_001164232.1  NM_001164234.1  NM_015214.2  

    Unigene Cluster for DDHD2:

    DDHD domain containing 2
    Hs.434966  [show with all ESTs]
    Unigene Representative Sequence: NM_015214
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000527834 ENST00000397166(uc003xlb.3) ENST00000533100 ENST00000519857(uc003xla.2)
    ENST00000526237 ENST00000526370 ENST00000528358 ENST00000529642 ENST00000532222
    ENST00000520272(uc011lbl.1 uc003xlc.3) ENST00000527415 ENST00000532106
    ENST00000528888 ENST00000531344 ENST00000528504 ENST00000517385(uc003xld.3)
    ENST00000529845 ENST00000520176
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DDHD2 (see all 27):
    hsa-miR-495 hsa-miR-607 hsa-miR-148b hsa-miR-2110 hsa-miR-25 hsa-miR-548l hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidDDHD2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): DDHD2 (NM_001164234)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDHD2
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      QuantiFast Probe-based Assays in human, mouse, rat DDHD2

    Additional mRNA sequence: 

    AB018268.1 AK023218.1 AK023534.1 AK026961.1 AK056525.1 AK094951.1 AK125904.1 AK299875.1 
    BC010504.1 

    20 DOTS entries:

    DT.456162  DT.208885  DT.100747347  DT.91942039  DT.92004401  DT.121476031  DT.92427165  DT.100747345 
    DT.100715166  DT.97844394  DT.402585  DT.91659345  DT.92047421  DT.121475996  DT.121476017  DT.121476106 
    DT.208886  DT.70102869  DT.75153166  DT.97786409 

    Selected AceView cDNA sequences (see all 174):

    BM787207 BM313673 BI091729 BE465480 AL705291 AA252176 AI671465 BQ439577 
    BM477680 BF060796 BM684667 BX350645 CA417592 AW151905 AI624024 AA916154 
    AI368211 AK056525 BM698122 AA259006 AW612541 AA347264 AI598041 AI290300 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDHD2 (see all 11)    About this scheme

    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:                                                                    -                 -           -     -     -     -                                       

    ExUns: 16b ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d
    SP1:  -                 -                     
    SP2:  -                 -                     
    SP3:  -                 -                     
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for DDHD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DDHD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DDHD2 Expression
    About this image


    DDHD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DDHD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDHD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.434966

    UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830
    Tissue specificity: Widely expressed (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDHD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DDHD2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddhd21 , 5 DDHD domain containing 21, 5 88.48(n)1
    90.5(a)1
      8 (14.17 cM)5
    721081  NM_028102.11  NP_082378.11 
     257253245 
    chicken
    (Gallus gallus)
    Aves DDHD21 DDHD domain containing 2 68.17(n)
    72.71(a)
      426777  XM_424389.4  XP_424389.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    68(a)
    61(a)
    1 ↔ many
    1 ↔ many
    GL343406.1(813598-838165)
    6(45308550-45309544)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150952 Xenopus laevis transcribed sequence with weak similarity more 75(n)    BJ033360.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddhd21 DDHD domain containing 2 62.05(n)
    61.28(a)
      100321082  XM_002663541.4  XP_002663587.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85521 CG8552 53.77(n)
    48.36(a)
      34109  NM_001201785.1  NP_001188714.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Protein with similarity to bovine phospholipase A1...
    15(a)
    1 → many
    XV(373710-375857) YOR022C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDHD2 gene
    DDHD12  SEC23IP2  
    1 SIMAP similar gene for DDHD2 using alignment to 13 protein entries:     DDHD2_HUMAN (see all proteins):
    SEC23IP

    DDHD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DDHD2 (see all 581)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695744
    Spastic paraplegia 54, autosomal recessive (SPG54)4--see VAR_0695742 D H mis40--------
    rs1927835671,2
    --38087019(+) ATAGGC/TTGCTT 2 -- us2k10--------
    rs1840680961,2
    --38087114(+) AAGTGC/GAAGAC 2 -- us2k10--------
    rs1416577701,2
    C--38087116(+) GTGCAA/GGACAG 2 -- us2k10--------
    rs1887519551,2
    --38087148(+) CAGAAC/TATGTG 2 -- us2k10--------
    rs1147394981,2
    F--38087168(+) GATATA/GTTTTC 2 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1920085191,2
    --38087287(+) TCCAGG/TTCTGT 2 -- us2k10--------
    rs1845618851,2
    C--38087621(+) CGCCTA/GTAATC 3 -- us2k10--------
    rs1892641601,2
    --38087830(+) CGAGAC/TCGTGC 3 -- us2k10--------
    rs1820712141,2
    --38087924(+) ATGCCA/CTATAA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for DDHD2 (38082736 - 38133076 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DDHD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658916CNV Deletion23128226
    nsv438049CNV Loss16468122

    Human Gene Mutation Database (HGMD): DDHD2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDHD2
    DNA2.0 Custom Variant and Variant Library Synthesis for DDHD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615003   
    OMIM disorders: 615033  
    UniProtKB/Swiss-Prot: DDHD2_HUMAN, O94830
  • 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 characterized by the addition of such neurological features as spastic quadriparesis,
    seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and
    peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis
    pigmentosa, deafness, dementia, amyotrophy and ichthyosis. 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 7 diseases for DDHD2:    
    About MalaCards
    spastic paraplegia 54, autosomal recessive    endometritis    hereditary spastic paraplegia    paraplegia
    spasticity    multiple myeloma    myeloma


    DDHD2 for disorders           About GeneDecksing


    Export disorders for DDHD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DDHD2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with DDHD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells. (PubMed id 20932832)1, 2, 3 Sato S.... Tani K. (FEBS Lett. 2010)
    2. A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125. (PubMed id 11788596)1, 2, 3 Nakajima K.... Tani K. (J. Biol. Chem. 2002)
    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. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    4. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. (PubMed id 22922100)1, 2 Inoue H.... Tani K. (Biochim. Biophys. Acta 2012)
    5. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. (PubMed id 23176823)1, 2 Schuurs-Hoeijmakers J.H.... de Brouwer A.P. (Am. J. Hum. Genet. 2012)
    6. 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. (PubMed id 19632984)1, 3 Morikawa R.K....Arai H. (J. Biol. Chem. 2009)
    7. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PubMed id 15623529)1, 2 Shimoi W.... Tani K. (J. Biol. Chem. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. (PubMed id 24337409)1 Citterio A....Bassi M.T. (J. Neurol. 2013)
    10. A lysophospholipid acyltransferase antagonist, CI-976, creates novel membrane tubules marked by intracellular phospholipase A1 KIAA0725p. (PubMed id 23378048)1 Baba T....Tani K. (Mol. Cell. Biochem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23259 HGNC: 29106 AceView: DDHD2 Ensembl:ENSG00000085788 euGenes: HUgn23259
    ECgene: DDHD2 H-InvDB: DDHD2

    (According to HUGE)
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    HUGE: KIAA0725 KIAA0725p

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DDHD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDHD2 gene:
    Search GeneIP for patents involving DDHD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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