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Atpaf2
Gene Detail
Symbol

Name
ID
Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
MGI:2180561
Synonyms
ATP12, ATP12p
Feature Type
protein coding gene
Genetic Map
Chromosome 11
37.81 cM, cytoband B2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:60400626-60418457 bp, - strand
From VEGA annotation of GRCm38

  17832 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:34602  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ATPAF2
Gene Tree: Atpaf2

Human
homologs
ATPAF2, ATP synthase mitochondrial F1 complex assembly factor 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 91647
neXtProt AC: NX_Q8N5M1

Human Synonyms: ATP12, ATP12p, LP3663, MC5DN1

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

Disease Associations: (1) Diseases Associated with Human ATPAF2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(2) Targeted(5)
Genomic Mutations involving Atpaf2 (3)
Incidental mutations (data from Mutagenetix , APF )
Mutations Annotated to Human Diseases (3)   
Interactions
Atpaf2 interacts with 84 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process proton-transporting ATP synthase complex assembly
Component mitochondrion, nuclear speck
Function molecular_function
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
cDNA source data(3)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase atpaf2 ; ZFIN atpaf2    NEW 
Molecular
reagents
All nucleic(3) cDNA(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000005820 (Evidence)
Ensembl Gene Model ENSMUSG00000042709 (Evidence)
Entrez Gene 246782 (Evidence)
DFCI TC1578662
DoTS DT.60118019
NIA Mouse Gene Index U032865
Consensus CDS Project CCDS24789.2
International Mouse Phenotyping Consortium Status Atpaf2
Sequences
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 sequences
All sequences(49) RefSeq(16) UniProt(2)
Polymorphisms
SNPs within 2kb(95 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011419 ATP12, ATPase F1F0-assembly protein
InterPro IPR023335 Orthogonal Bundle domain in ATP12
Protein Ontology PR:000004496 ATP synthase mitochondrial F1 complex assembly factor 2
References
(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
All references(27)

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
06/23/2015
MGI 5.22
The Jackson Laboratory