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Gene : AFG3L2 Homo sapiens

Name  ? AFG3 like matrix AAA peptidase subunit 2 Cytological Location  18p11.21
Brief Description  AFG3 like matrix AAA peptidase subunit 2
description  This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
  • synonyms:
  • AFG3 like AAA ATPase 2,
  • AFG3L2,
  • HGNC:315,
  • AFG3 (ATPase family gene 3, yeast)-like 2,
  • spinocerebellar ataxia 28,
  • SPAX5,
  • SCA28,
  • NM_006796,
  • AFG3 ATPase family member 3-like 2 (S. cerevisiae),
  • Y18314,
  • SPAX5,
  • SCA28,
  • uc002kqz.3,
  • OTTHUMG00000131695
  • identifiers:
  • 10939,
  • ENSG00000141385,
  • AFG3L2

Genome feature

Region: gene ? Length: 48366  
Location: 18:12328944-12377309 reverse strand Cyto location: 18p11.21


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

11 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results