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Gene : AK2 Homo sapiens

Name  ? adenylate kinase 2 Cytological Location  1p35.1
Brief Description  adenylate kinase 2
description  Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
  • synonyms:
  • HGNC:362,
  • OTTHUMG00000004131,
  • ADK2,
  • U84371,
  • AK2,
  • uc001bwp.3,
  • NM_001625
  • identifiers:
  • 204,
  • ENSG00000004455,
  • AK2

Genome feature

Region: gene ? Length: 28972  
Location: 1:33007940-33036911 reverse strand Cyto location: 1p35.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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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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Interactions

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Expression

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

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Other

480 SN Ps

5 Cross References

20 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results