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Gene : ATPAF2 Homo sapiens

Name  ? ATP synthase mitochondrial F1 complex assembly factor 2 Cytological Location  17p11.2
Brief Description  ATP synthase mitochondrial F1 complex assembly factor 2
Description  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]
  • synonyms:
  • NM_145691,
  • LP3663,
  • uc002gse.2,
  • MGC29736,
  • HGNC:18802,
  • MC5DN1,
  • LP3663,
  • OTTHUMG00000059354,
  • AF052185,
  • ATP12p,
  • Atp12p,
  • ATP12,
  • ATP12,
  • ATPAF2
  • identifiers:
  • 91647,
  • ENSG00000171953,
  • ATPAF2

Genome feature

Region: gene ? Length: 24110  
Location: 17:18015059-18039168 reverse strand Cyto location: 17p11.2

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

3740 SNPs

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results