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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:60400626-60418457 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.81 cM, cytoband B2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    96 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2180561
protein coding gene Chr11:60400624-60418490 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018416
protein coding gene Chr11:60277595-60298057 (-)
A/J MGP_AJ_G0018385
protein coding gene Chr11:57990696-58008519 (-)
AKR/J MGP_AKRJ_G0018355
protein coding gene Chr11:59926130-59943971 (-)
BALB/cJ MGP_BALBcJ_G0018356
protein coding gene Chr11:58333831-58352165 (-)
C3H/HeJ MGP_C3HHeJ_G0018169
protein coding gene Chr11:59803068-59821918 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018808
protein coding gene Chr11:62179336-62197159 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016454
protein coding gene Chr11:55224695-55242571 (-)
CAST/EiJ MGP_CASTEiJ_G0017726
protein coding gene Chr11:59945801-59963610 (-)
CBA/J MGP_CBAJ_G0018143
protein coding gene Chr11:64911740-64929667 (-)
DBA/2J MGP_DBA2J_G0018252
protein coding gene Chr11:57646328-57664072 (-)
FVB/NJ MGP_FVBNJ_G0018243
protein coding gene Chr11:57313575-57331918 (-)
LP/J MGP_LPJ_G0018325
protein coding gene Chr11:60881745-60901235 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018267
protein coding gene Chr11:65969205-65988176 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018849
protein coding gene Chr11:59957874-59975737 (-)
PWK/PhJ MGP_PWKPhJ_G0017497
protein coding gene Chr11:58252407-58270556 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017289
protein coding gene Chr11:59758018-59776153 (-)
WSB/EiJ MGP_WSBEiJ_G0017777
protein coding gene Chr11:59636475-59654307 (-)



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
    UniProt: Q8N5M1

  • Chr Location
    17p11.2; chr17:18015059-18039169 (-)  GRCh38.p7

  • 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
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 ENSMUSG00000042709 Ensembl Gene Model | MGI Sequence Detail 17832 C57BL/6J ±  kb
transcript ENSMUST00000108721 Ensembl | MGI Sequence Detail 1813 Not Applicable  
polypeptide ENSMUSP00000104361 Ensembl | MGI Sequence Detail 298 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • InterPro Domains
    IPR011419 ATP12, ATP synthase F1-assembly protein
    IPR023335 ATP12 orthogonal Bundle domain superfamily
Molecular
Reagents
less
  • All nucleic 4
    cDNA 4

    Microarray probesets 3
References
more
  • Summaries
    All 35
    Diseases 3
    Gene Ontology 3
    Phenotypes 17
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:185284 Lacaria M, et al., Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet. 2012 Jul 15;21(14):3083-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory