About   Help   FAQ
Atpaf2 Gene Detail
Summary
  • Symbol
    Atpaf2
  • Name
    ATP synthase mitochondrial F1 complex assembly factor 2
  • Synonyms
    ATP12, ATP12p
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180561
    NCBI Gene: 246782
  • Gene Overview
    MyGene.info: ATPAF2
Location & Maps
more
  • Sequence Map
    Chr11:60400626-60418457 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17832 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.81 cM, cytoband B2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ATPAF2, ATP synthase mitochondrial F1 complex assembly factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATPAF2, ATP synthase mitochondrial F1 complex assembly factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP12, ATP12p, LP3663, MC5DN1
  • Links
    NCBI Gene ID: 91647
    neXtProt AC: NX_Q8N5M1

  • Chr Location
    17p11.2; chr17:17977781-18039169 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 34602
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ATPAF2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ATPAF2 associations

Human Disease Mouse Models
       Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1;   OMIM: 604273
Click on a disease name to see all genes associated with that disease.

  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    17 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.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Targeted
    5
  • Genomic Mutations
    4 involving Atpaf2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • 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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005820 VEGA Gene Model | MGI Sequence Detail 17832 C57BL/6J ±  kb
transcript OTTMUST00000012909 VEGA | MGI Sequence Detail 1813 Not Applicable  
polypeptide OTTMUSP00000006006 VEGA | MGI Sequence Detail 298 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    96 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • InterPro Domains
    IPR011419 ATP12, ATP synthase F1-assembly protein
    IPR023335 Orthogonal Bundle domain in ATP12
Molecular
Reagents
less
  • All nucleic 3
    cDNA 3

    Microarray probesets 3
References
more
  • Summaries
    All 23
    Diseases 3
    Gene Ontology 3
    Phenotypes 17
  • Earliest
    J:151002 Pagliarini DJ, et al., A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory