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Aliases for ATPAF2 Gene

Aliases for ATPAF2 Gene

  • ATP Synthase Mitochondrial F1 Complex Assembly Factor 2 2 3
  • ATP12 3 4 6
  • ATP12 Homolog 3 4
  • MC5DN1 3 6
  • ATP12p 3
  • LP3663 3

External Ids for ATPAF2 Gene

Summaries for ATPAF2 Gene

Entrez Gene Summary for ATPAF2 Gene

  • This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATPAF2 Gene

ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with ATPAF2 include mitochondrial complex v deficiency, nuclear type 1 and smith-magenis syndrome.

UniProtKB/Swiss-Prot for ATPAF2 Gene

  • May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).

Gene Wiki entry for ATPAF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATPAF2 Gene

Genomics for ATPAF2 Gene

Genomic Location for ATPAF2 Gene

Start:
17,977,409 bp from pter
End:
18,039,209 bp from pter
Size:
61,801 bases
Orientation:
Minus strand

Genomic View for ATPAF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATPAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATPAF2 Gene

Regulatory Elements for ATPAF2 Gene

Proteins for ATPAF2 Gene

  • Protein details for ATPAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5M1-ATPF2_HUMAN
    Recommended name:
    ATP synthase mitochondrial F1 complex assembly factor 2
    Protein Accession:
    Q8N5M1
    Secondary Accessions:
    • A6NDE5
    • A8K2J2
    • Q6XYC7

    Protein attributes for ATPAF2 Gene

    Size:
    289 amino acids
    Molecular mass:
    32772 Da
    Quaternary structure:
    • Interacts with ATP5A1.
    SequenceCaution:
    • Sequence=AAP34466.1; Type=Frameshift; Positions=87; Evidence={ECO:0000305};

neXtProt entry for ATPAF2 Gene

Proteomics data for ATPAF2 Gene at MOPED

Post-translational modifications for ATPAF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATPAF2 Gene

No data available for DME Specific Peptides for ATPAF2 Gene

Domains for ATPAF2 Gene

Gene Families for ATPAF2 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for ATPAF2 Gene

UniProtKB/Swiss-Prot:

ATPF2_HUMAN
Family:
  • Belongs to the ATP12 family.:
    • Q8N5M1
genes like me logo Genes that share domains with ATPAF2: view

Function for ATPAF2 Gene

Molecular function for ATPAF2 Gene

UniProtKB/Swiss-Prot Function: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).

Gene Ontology (GO) - Molecular Function for ATPAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11410595
genes like me logo Genes that share ontologies with ATPAF2: view

Phenotypes for ATPAF2 Gene

MGI mutant phenotypes for ATPAF2:
inferred from 1 alleles
GenomeRNAi human phenotypes for ATPAF2:
genes like me logo Genes that share phenotypes with ATPAF2: view

miRNA for ATPAF2 Gene

miRTarBase miRNAs that target ATPAF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATPAF2 Gene

Localization for ATPAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATPAF2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATPAF2 Gene COMPARTMENTS Subcellular localization image for ATPAF2 gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATPAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ATPAF2: view

Pathways for ATPAF2 Gene

SuperPathways for ATPAF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATPAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043461 proton-transporting ATP synthase complex assembly NAS 14757859
genes like me logo Genes that share ontologies with ATPAF2: view

No data available for Pathways by source for ATPAF2 Gene

Transcripts for ATPAF2 Gene

Unigene Clusters for ATPAF2 Gene

ATP synthase mitochondrial F1 complex assembly factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATPAF2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4:
SP5: - - - - - - - - - - - -
SP6: - - -
SP7: -
SP8:

Relevant External Links for ATPAF2 Gene

GeneLoc Exon Structure for
ATPAF2
ECgene alternative splicing isoforms for
ATPAF2

Expression for ATPAF2 Gene

mRNA expression in normal human tissues for ATPAF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATPAF2 Gene

SOURCE GeneReport for Unigene cluster for ATPAF2 Gene Hs.528889

mRNA Expression by UniProt/SwissProt for ATPAF2 Gene

Q8N5M1-ATPF2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with ATPAF2: view

Orthologs for ATPAF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATPAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATPAF2 36
  • 99.54 (n)
  • 99.65 (a)
ATPAF2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATPAF2 36
  • 85.88 (n)
  • 87.85 (a)
ATPAF2 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATPAF2 36
  • 88.26 (n)
  • 90.64 (a)
ATPAF2 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atpaf2 36
  • 86.27 (n)
  • 87.2 (a)
Atpaf2 16
Atpaf2 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATPAF2 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF2 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atpaf2 36
  • 86.85 (n)
  • 88.93 (a)
chicken
(Gallus gallus)
Aves ATPAF2 36
  • 74.85 (n)
  • 77.22 (a)
ATPAF2 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 76 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atpaf2 36
  • 72.82 (n)
  • 76.31 (a)
MGC75949 36
zebrafish
(Danio rerio)
Actinopterygii atpaf2 36
  • 65.09 (n)
  • 68.77 (a)
atpaf2 37
  • 62 (a)
OneToOne
Dr.4726 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008876 36
  • 51.59 (n)
  • 40.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14505 36
  • 53.59 (n)
  • 43.46 (a)
l(2)k14505 37
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y116A8C.27 36
  • 42.22 (n)
  • 30.42 (a)
Y116A8C.27 37
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL140C 36
  • 43.07 (n)
  • 26.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP12 36
  • 41 (n)
  • 28.32 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06259g 36
  • 38.99 (n)
  • 28.57 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40660 36
  • 42.86 (n)
  • 32.9 (a)
rice
(Oryza sativa)
Liliopsida Os07g0644000 36
  • 44.06 (n)
  • 29.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00676 36
  • 46.58 (n)
  • 33.62 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp12 36
  • 40.59 (n)
  • 31.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3439 37
  • 41 (a)
OneToOne
Species with no ortholog for ATPAF2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATPAF2 Gene

ENSEMBL:
Gene Tree for ATPAF2 (if available)
TreeFam:
Gene Tree for ATPAF2 (if available)

Paralogs for ATPAF2 Gene

No data available for Paralogs for ATPAF2 Gene

Variants for ATPAF2 Gene

Sequence variations from dbSNP and Humsavar for ATPAF2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1128047 -- 18,021,852(-) ATACG(G/T)CGTGG reference, missense
rs1128069 -- 18,018,529(-) ACACT(C/G/T)AGCAG utr-variant-3-prime
rs2955377 -- 18,029,504(-) GGTCT(C/T)CAAAG intron-variant
rs2955378 -- 18,026,939(-) TTGGC(C/T)GAAAA intron-variant
rs2955384 -- 18,036,259(-) CTTAC(C/T)AGTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATPAF2 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv907766 CNV Loss 21882294
nsv510701 CNV Loss 20534489

Relevant External Links for ATPAF2 Gene

HapMap Linkage Disequilibrium report
ATPAF2
Human Gene Mutation Database (HGMD)
ATPAF2

Disorders for ATPAF2 Gene

(1) OMIM Diseases for ATPAF2 Gene (608918)

UniProtKB/Swiss-Prot

ATPF2_HUMAN
  • Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269 PubMed:14757859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATPAF2

Genetic Association Database (GAD)
ATPAF2
Human Genome Epidemiology (HuGE) Navigator
ATPAF2
genes like me logo Genes that share disorders with ATPAF2: view

Publications for ATPAF2 Gene

  1. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PMID: 11410595) Wang Z.-G. … Ackerman S.H. (J. Biol. Chem. 2001) 2 3 4
  2. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W. … Lupski J.R. (Genome Res. 2002) 2 3
  3. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. (PMID: 14757859) De Meirleir L. … Van Coster R. (J. Med. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PMID: 20167577) Reynolds C.A. … Prince J.A. (Hum. Mol. Genet. 2010) 3 49

Products for ATPAF2 Gene

Sources for ATPAF2 Gene

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