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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:26215351-26244502 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.17 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    768 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919358
 protein coding gene Chr8:26215351-26244624 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033485
 protein coding gene Chr8:23792255-23821247 (-)
A/J MGP_AJ_G0033465
 protein coding gene Chr8:22928140-22958089 (-)
AKR/J MGP_AKRJ_G0033390
 protein coding gene Chr8:23687313-23717266 (-)
BALB/cJ MGP_BALBcJ_G0033461
 protein coding gene Chr8:23074574-23104974 (-)
C3H/HeJ MGP_C3HHeJ_G0033175
 protein coding gene Chr8:23897908-23929266 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033977
 protein coding gene Chr8:24758241-24789279 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030927
 protein coding gene Chr8:20197822-20228111 (-)
CAST/EiJ MGP_CASTEiJ_G0032501
 protein coding gene Chr8:23347878-23378956 (-)
CBA/J MGP_CBAJ_G0033150
 protein coding gene Chr8:25726135-25760404 (-)
DBA/2J MGP_DBA2J_G0033305
 protein coding gene Chr8:22899238-22929065 (-)
FVB/NJ MGP_FVBNJ_G0033249
 protein coding gene Chr8:22705444-22735047 (-)
LP/J MGP_LPJ_G0033394
 protein coding gene Chr8:23770757-23802460 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033292
 protein coding gene Chr8:25184949-25216430 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033996
 protein coding gene Chr8:23620959-23652164 (-)
PWK/PhJ MGP_PWKPhJ_G0032212
 protein coding gene Chr8:22540701-22570203 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032046
 protein coding gene Chr8:22989593-23021584 (-)
WSB/EiJ MGP_WSBEiJ_G0032617
 protein coding gene Chr8:23839903-23871500 (-)



Homology
more
  • Human Ortholog
    DDHD2, DDHD domain containing 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DDHD2, DDHD domain containing 2
  • Synonyms
    iPLA1A, iPLA(1)gamma, iPLA1gamma, p125B, SAMWD1, SPG54
  • Links
    NCBI Gene ID: 23259
    neXtProt AC: NX_O94830
    UniProt: O94830

  • Chr Location
    8p11.23; chr8:38225218-38275558 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ddhd2 mouse models; 1 with human DDHD2 associations

Human Disease Mouse Models
      
IDs
 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
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    10 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
less
  • All GO Annotations
    22
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72108 NCBI Gene Model | MGI Sequence Detail 29152 C57BL/6J ±  kb
    transcript NM_028102 RefSeq | MGI Sequence Detail 4266 C57BL/6  
    polypeptide Q80Y98 UniProt | EBI | MGI Sequence Detail 699 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 46

      Microarray probesets 7
    References
    more
    • Summaries
      All 38
      Diseases 1
      Gene Ontology 8
      Phenotypes 10
    • Earliest
      J:39118 Crozet F, et al., Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics. 1997 Mar 1;40(2):332-41
    • Latest
      J:303107 Maruyama T, et al., Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis. Cell Death Dis. 2018 Jul 23;9(8):797
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory