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Aliases for ATPAF2 Gene

Aliases for ATPAF2 Gene

  • ATP Synthase Mitochondrial F1 Complex Assembly Factor 2 2 3 5
  • ATP12 Homolog 3 4
  • ATP12 3 4
  • ATP12p 3
  • LP3663 3
  • MC5DN1 3

External Ids for ATPAF2 Gene

Previous GeneCards Identifiers for ATPAF2 Gene

  • GC17M018166
  • GC17M019290
  • GC17M017861
  • GC17M018122
  • GC17M017863
  • GC17M017864
  • GC17M017918
  • GC17M017675
  • GC17M017881

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 Isolated Atp Synthase Deficiency.

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

Regulatory Elements for ATPAF2 Gene

Enhancers for ATPAF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATPAF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATPAF2 Gene

Chromosome:
17
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

Genes around ATPAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATPAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATPAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for ATPAF2 Gene

Protein Domains for ATPAF2 Gene

Suggested Antigen Peptide Sequences for ATPAF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5M1

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for ATPAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATPAF2 Gene

MGI Knock Outs for ATPAF2:

Animal Model Products

CRISPR Products

miRNA for ATPAF2 Gene

miRTarBase miRNAs that target ATPAF2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
nucleus 5
mitochondrion 4
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATPAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ATPAF2: view

Pathways & Interactions 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 and SIGNOR curated interactions for ATPAF2 Gene

Drugs & Compounds for ATPAF2 Gene

No Compound Related Data Available

Transcripts for ATPAF2 Gene

Unigene Clusters for ATPAF2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for ATPAF2 Gene

This gene is overexpressed in Nasal epithelium (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATPAF2 Gene



Protein tissue co-expression partners for ATPAF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATPAF2 Gene:

ATPAF2

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 expression patterns with ATPAF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATPAF2 Gene

Orthologs for ATPAF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATPAF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATPAF2 34
  • 85.88 (n)
  • 87.85 (a)
ATPAF2 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATPAF2 34
  • 88.26 (n)
  • 90.64 (a)
ATPAF2 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atpaf2 34
  • 86.27 (n)
  • 87.2 (a)
Atpaf2 16
Atpaf2 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATPAF2 34
  • 99.54 (n)
  • 99.65 (a)
ATPAF2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atpaf2 34
  • 86.85 (n)
  • 88.93 (a)
oppossum
(Monodelphis domestica)
Mammalia ATPAF2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATPAF2 34
  • 74.85 (n)
  • 77.22 (a)
ATPAF2 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 76 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atpaf2 34
  • 72.82 (n)
  • 76.31 (a)
MGC75949 34
zebrafish
(Danio rerio)
Actinopterygii atpaf2 34
  • 65.09 (n)
  • 68.77 (a)
Dr.4726 34
atpaf2 35
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008876 34
  • 51.59 (n)
  • 40.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14505 34
  • 53.59 (n)
  • 43.46 (a)
l(2)k14505 35
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y116A8C.27 34
  • 42.22 (n)
  • 30.42 (a)
Y116A8C.27 35
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL140C 34
  • 43.07 (n)
  • 26.55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06259g 34
  • 38.99 (n)
  • 28.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP12 34
  • 41 (n)
  • 28.32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40660 34
  • 42.86 (n)
  • 32.9 (a)
rice
(Oryza sativa)
Liliopsida Os07g0644000 34
  • 44.06 (n)
  • 29.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00676 34
  • 46.58 (n)
  • 33.62 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp12 34
  • 40.59 (n)
  • 31.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3439 35
  • 41 (a)
OneToOne
Species where no ortholog for ATPAF2 was found in the sources mined by GeneCards:
  • 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
rs104894554 Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) 18,028,276(-) CTGAG(A/T)GGGAT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1128047 -- 18,021,852(-) ATACG(G/T)CGTGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1128069 -- 18,018,529(-) ACACT(C/G/T)AGCAG intron-variant, utr-variant-3-prime
rs2955377 -- 18,029,504(-) GGTCT(C/T)CAAAG intron-variant, upstream-variant-2KB
rs2955378 -- 18,026,939(-) TTGGC(C/T)GAAAA 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
nsv510701 CNV deletion 20534489

Variation tolerance for ATPAF2 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATPAF2 Gene

Human Gene Mutation Database (HGMD)
ATPAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATPAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATPAF2 Gene

Disorders for ATPAF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATPAF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 1
  • mc5dn1
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
mitochondrial complex v deficiency
  • complex 5 mitochondrial respiratory chain deficiency
smith-magenis syndrome
  • smith magenis syndrome
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATPAF2
genes like me logo Genes that share disorders with ATPAF2: view

No data available for Genatlas for ATPAF2 Gene

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 65
  2. 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 46 65
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  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 65
  5. 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 65

Products for ATPAF2 Gene

Sources for ATPAF2 Gene

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