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Sdhd Gene Detail
Summary
  • Symbol
    Sdhd
  • Name
    succinate dehydrogenase complex, subunit D, integral membrane protein
  • Synonyms
    3110001M13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914175
    NCBI Gene: 66925
  • Gene Overview
    MyGene.info: SDHD
Location & Maps
more
  • Sequence Map
    Chr9:50596340-50603849 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7510 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SDHD, succinate dehydrogenase complex subunit D
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SDHD, succinate dehydrogenase complex subunit D
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CBT1, CII-4, CWS3, cybS, PGL, PGL1, QPs3, SDH4
  • Links
    NCBI Gene ID: 6392
    neXtProt AC: NX_O14521

  • Chr Location
    11q23; chr11:112086824-112095801 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sdhd mouse models; 5 with human SDHD associations

Human Disease Mouse Models
       Paragangliomas 1; PGL1   OMIM: 168000 View 3 "NOT" models
       Carcinoid Tumors, Intestinal   OMIM: 114900
Cowden Syndrome 3; CWS3   OMIM: 615106
Paraganglioma and Gastric Stromal Sarcoma   OMIM: 606864
Pheochromocytoma Pheochromocytoma, Susceptibility to   OMIM: 171300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 3 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    23
  • Gene trapped
    20
  • Targeted
    3
  • Incidental Mutations
Homozygous null mice die before E7.5. Heterozygotes show a deficiency in succinate dehydrogenase activity and an abnormal enhancement of resting carotid body activity due to a decrease of potassium conductance and persistent calcium influx into glomus cells.
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 66925 NCBI Gene Model | MGI Sequence Detail 7510 C57BL/6J ±  kb
transcript NM_025848 RefSeq | MGI Sequence Detail 1287 C57BL/6  
polypeptide Q9CXV1 UniProt | EBI | MGI Sequence Detail 159 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    84 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • InterPro Domains
    IPR007992 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, CybS
Molecular
Reagents
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  • All nucleic 15
    cDNA 12
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGI:2143396
References
more
  • Summaries
    All 44
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 9
    Phenotypes 11
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:212339 Millan-Ucles A, et al., A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial dysfunction. PLoS One. 2014;9(1):e85528

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory