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 h... See more...

Aliases for ATPAF2 Gene

Aliases for ATPAF2 Gene

  • ATP Synthase Mitochondrial F1 Complex Assembly Factor 2 2 3 4 5
  • ATP12 2 3 4
  • ATP12 Homolog 3 4
  • LP3663 2 3
  • MGC29736 2
  • ATP12p 3
  • MC5DN1 3
  • ATPAF2 5
  • Atp12p 2

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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATPAF2 Gene

Genomics for ATPAF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATPAF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATPAF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATPAF2

Top Transcription factor binding sites by QIAGEN in the ATPAF2 gene promoter:
  • ATF
  • c-Myb
  • CBF(2)
  • IRF-1
  • MZF-1
  • NF-Y
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ATPAF2 Gene

Genomic Locations for ATPAF2 Gene
chr17:17,977,409-18,039,209
(GRCh38/hg38)
Size:
61,801 bases
Orientation:
Minus strand
chr17:17,880,723-17,942,523
(GRCh37/hg19)
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 ATP5F1A (PubMed:11410595). Interacts with FMC1 (PubMed:28719601).
    SequenceCaution:
    • Sequence=AAP34466.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ATPAF2 Gene

Post-translational modifications for ATPAF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATPAF2 Gene

Domains & Families for ATPAF2 Gene

Gene Families for ATPAF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ATPAF2 Gene

Suggested Antigen Peptide Sequences for ATPAF2 Gene

GenScript: Design optimal peptide antigens:
  • ATP12 homolog (ATPF2_HUMAN)
  • cDNA FLJ60490, highly similar to ATP synthase mitochondrial F1 complexassembly factor 2, mitochondrial (B4DG98_HUMAN)

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).

Phenotypes From GWAS Catalog for ATPAF2 Gene

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:
  • Atpaf2 Atpaf2<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATPAF2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATPAF2 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 4
plasma membrane 1
cytoskeleton 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATPAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with ATPAF2: view

Pathways & Interactions for ATPAF2 Gene

PathCards logo

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 IEA,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

mRNA/cDNA for ATPAF2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATPAF2

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

Expression for ATPAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATPAF2 Gene



Protein tissue co-expression partners for ATPAF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ATPAF2 Gene

  • Muscle(4.4)
  • Liver(4.4)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATPAF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ATPAF2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ATPAF2 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATPAF2 30 31
  • 88.26 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF2 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atpaf2 30
  • 86.85 (n)
Mouse
(Mus musculus)
Mammalia Atpaf2 30 17 31
  • 86.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATPAF2 30 31
  • 85.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATPAF2 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATPAF2 30 31
  • 74.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 76 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atpaf2 30
  • 72.82 (n)
MGC75949 30
Zebrafish
(Danio rerio)
Actinopterygii atpaf2 30 31
  • 65.09 (n)
OneToOne
Dr.4726 30
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)k14505 30 31
  • 53.59 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008876 30
  • 51.59 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y116A8C.27 30
  • 42.22 (n)
Y116A8C.27 31
  • 28 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL140C 30
  • 43.07 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP12 30
  • 41 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06259g 30
  • 38.99 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G40660 30
  • 42.86 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0644000 30
  • 44.06 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00676 30
  • 46.58 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3439 31
  • 41 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp12 30
  • 40.59 (n)
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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATPAF2: view image

Paralogs for ATPAF2 Gene

No data available for Paralogs for ATPAF2 Gene

Variants for ATPAF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATPAF2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
669688 Benign: not provided 18,021,554(-) A/G INTRON_VARIANT
669690 Likely Benign: not provided 18,020,822(-) G/T INTRON_VARIANT
669691 Benign: not provided 18,018,966(-) G/A INTRON_VARIANT
669692 Likely Benign: not provided 18,018,901(-) C/T INTRON_VARIANT
673034 Benign: not provided 18,026,113(-) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ATPAF2 Gene

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)

Additional Variant Information 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

(12) MalaCards diseases for ATPAF2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, 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
smith-magenis syndrome
  • sms
neuropathy, ataxia, and retinitis pigmentosa
  • narp syndrome
3-methylglutaconic aciduria
  • 3-methyl glutaconic aciduria
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATPF2_HUMAN
  • Mitochondrial complex V deficiency, nuclear type 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.

Additional Disease Information for ATPAF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 ZG … Ackerman SH (The Journal of biological chemistry 2001) 2 3 4
  2. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets. (PMID: 28719601) Li Y … Mootha VK (PLoS computational biology 2017) 3 4
  3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PMID: 20167577) Reynolds CA … Prince JA (Human molecular genetics 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ATPAF2 Gene

  • Signalway Proteins for ATPAF2

Sources for ATPAF2 Gene