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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
    gene 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
    166 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0024846
 protein coding gene Chr19:7841327-7870487 (-)
A/J MGP_AJ_G0024814
 protein coding gene Chr19:7308871-7333285 (-)
AKR/J MGP_AKRJ_G0024789
 protein coding gene Chr19:7598001-7623136 (-)
BALB/cJ MGP_BALBcJ_G0024814
 protein coding gene Chr19:7353390-7378247 (-)
C3H/HeJ MGP_C3HHeJ_G0024580
 protein coding gene Chr19:7485708-7509938 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025262
 protein coding gene Chr19:8193783-8228756 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022689
 protein coding gene Chr19:7727392-7753328 (-)
CAST/EiJ MGP_CASTEiJ_G0024053
 protein coding gene Chr19:7139413-7163732 (-)
CBA/J MGP_CBAJ_G0024554
 protein coding gene Chr19:8244745-8271903 (-)
DBA/2J MGP_DBA2J_G0024681
 protein coding gene Chr19:7320845-7345736 (-)
FVB/NJ MGP_FVBNJ_G0024648
 protein coding gene Chr19:7363478-7389402 (-)
LP/J MGP_LPJ_G0024768
 protein coding gene Chr19:7809987-7834902 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024675
 protein coding gene Chr19:8136867-8163101 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025310
 protein coding gene Chr19:7614490-7641406 (-)
PWK/PhJ MGP_PWKPhJ_G0023798
 protein coding gene Chr19:6763152-6788214 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023603
 protein coding gene Chr19:6800110-6822780 (-)
WSB/EiJ MGP_WSBEiJ_G0024115
 protein coding gene Chr19:7499033-7524846 (-)



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
    neXtProt AC: NX_Q9NX18
    UniProt: Q9NX18

  • Chr Location
    11q12.2; chr11:61430042-61446733 (+)  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
    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 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
    23
  • GO References
    7
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
non-membrane-bounded 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
    718
  • 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 35
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 10
    • 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:290315 Cheong A, et al., Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Development. 2020 May 26;147(10):dev188714
    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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    04/16/2024
    MGI 6.23     		The Jackson Laboratory