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Ddhd2 Gene Detail
Summary
  • Symbol
    Ddhd2
  • Name
    DDHD domain containing 2
  • Synonyms
    2010305K11Rik, SAMWD1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919358
    NCBI Gene: 72108
Location & Maps
more
  • Sequence Map
    Chr8:25725346-25754596 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29251 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 14.17 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DDHD2, DDHD domain containing 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DDHD2, DDHD domain containing 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    iPLA(1)gamma, SAMWD1, SPG54
  • Links
    NCBI Gene ID: 23259
    neXtProt AC: NX_O94830

  • Chr Location
    8p11.23; chr8:38231343-38273885 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 66646
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: DDHD2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ddhd2 mouse models; 1 with human DDHD2 associations

Human Disease Mouse Models
       Spastic Paraplegia 54, Autosomal Recessive; SPG54   OMIM: 615033 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display impaired balance and coordination, impaired spatial learning and memory and triglyceride accumulation in neurons in the brain and spinal cord.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000060634 VEGA Gene Model | MGI Sequence Detail 29251 C57BL/6J ±  kb
transcript OTTMUST00000148295 VEGA | MGI Sequence Detail 2265 Not Applicable  
polypeptide OTTMUSP00000077103 VEGA | MGI Sequence Detail 730 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    155 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 45
    cDNA 45

    Microarray probesets 7
References
more
  • Summaries
    All 33
    Diseases 1
    Gene Ontology 7
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:216446 Inloes JM, et al., The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase. Proc Natl Acad Sci U S A. 2014 Oct 14;111(41):14924-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory