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Gene : ATAD3A Homo sapiens

Name  ? ATPase family AAA domain containing 3A Cytological Location  1p36.33
Brief Description  ATPase family AAA domain containing 3A
Description  This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
  • synonyms:
  • uc001aga.3,
  • ATAD3A,
  • OTTHUMG00000000575,
  • HGNC:25567,
  • FLJ10709,
  • NM_018188,
  • HAYOS,
  • AK025865
  • identifiers:
  • 55210,
  • ENSG00000197785,
  • ATAD3A

Genome feature

Region: gene ? Length: 22545  
Location: 1:1512143-1534687 Cyto location: 1p36.33


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results