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Sdhaf2 Gene Detail
Summary
  • Symbol
    Sdhaf2
  • Name
    succinate dehydrogenase complex assembly factor 2
  • Synonyms
    0610038F07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913322
    NCBI Gene: 66072
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:10477876-10502573 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 6.60 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    731 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913322
 protein coding gene Chr19:10477876-10503506 (-)
129S1/SvImJ ENSMUSG00200048349
 protein coding gene Chr19:7156768-7182382 (-)
A/J ENSMUSG00195052233
 protein coding gene Chr19:7367744-7392982 (-)
AKR/J ENSMUSG00220047441
 protein coding gene Chr19:7277624-7302869 (-)
BALB/cJ ENSMUSG00180048930
 protein coding gene Chr19:7731736-7756972 (-)
C3H/HeJ ENSMUSG00175010201
 protein coding gene Chr19:7005385-7030630 (-)
C57BL/6NJ ENSMUSG00215044344
 protein coding gene Chr19:7074102-7099712 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022689
 protein coding gene Chr19:7727392-7753328 (-)
CAST/EiJ ENSTCUG00005024609
 protein coding gene Chr19:6871442-6896788 (-)
CBA/J ENSMUSG00210047750
 protein coding gene Chr19:7203982-7229227 (-)
DBA/2J ENSMUSG00185049922
 protein coding gene Chr19:7613690-7638936 (-)
FVB/NJ ENSMUSG00205029739
 protein coding gene Chr19:7095013-7120851 (-)
JF1/MsJ ENSUMUG00000055651
 protein coding gene Chr19:7732650-7759494 (-)
LP/J ENSMUSG00230053879
 protein coding gene Chr19:8531444-8557058 (-)
NOD/ShiLtJ ENSMUSG00190023230
 protein coding gene Chr19:6829366-6854613 (-)
NZO/HlLtJ ENSMUSG00225045149
 protein coding gene Chr19:12240294-12265903 (-)
PWK/PhJ ENSLUMG00010006646
 protein coding gene Chr19:7117476-7143649 (-)
SPRET/EiJ ENSMSPG00010048509
 protein coding gene Chr19:6961144-6981537 (-)
WSB/EiJ ENSIUOG00005048797
 protein coding gene Chr19:6722452-6747648 (-)



Homology
more
  • Human Ortholog
    SDHAF2, succinate dehydrogenase complex assembly factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SDHAF2, succinate dehydrogenase complex assembly factor 2
  • Synonyms
    C11orf79, hSDH5, PGL2, PPGL2, SDH5
  • Links
    NCBI Gene ID: 54949
    UniProt: Q9NX18

  • Chr Location
    11q12.2; chr11:61430042-61446839 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SDHAF2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    1 images
    12 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 knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    11
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    609
  • Tissues
    11
  • cDNA Data
    15
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66072 NCBI Gene Model | MGI Sequence Detail 24698 C57BL/6J ±  kb
    transcript NM_025333 RefSeq | MGI Sequence Detail 3116 C57BL/6  
    polypeptide Q8C6I2 UniProt | EBI | MGI Sequence Detail 164 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000031667 succinate dehydrogenase assembly factor 2, mitochondrial
      (term hierarchy)
    • InterPro Domains
      IPR005631 Flavinator of succinate dehydrogenase
      IPR036714 Flavinator of succinate dehydrogenase superfamily
      IPR028882 Succinate dehydrogenase assembly factor 2, mitochondrial
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2147428, MGI:2147695
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 1
      Gene Ontology 11
      Phenotypes 12
    • Earliest
      J:62678 Phillips RL, et al., The genetic program of hematopoietic stem cells. Science. 2000 Jun 2;288(5471):1635-40
    • Latest
      J:352334 Zhou Z, et al., Drp1 controls complex II assembly and skeletal muscle metabolism by Sdhaf2 action on mitochondria. Sci Adv. 2024 Apr 5;10(14):eadl0389
    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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    09/08/2026
    MGI 6.24     		The Jackson Laboratory