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Gene : ANK3 Homo sapiens

Name  ? ankyrin 3 Cytological Location  10q21.2
Brief Description  ankyrin 3
description  Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
  • synonyms:
  • ankyrin-G,
  • HGNC:494,
  • U13616,
  • NM_020987,
  • ANKYRIN-G,
  • MRT37,
  • ankyrin 3, node of Ranvier (ankyrin G),
  • OTTHUMG00000018288,
  • uc001jky.4,
  • ankyrin-3, node of Ranvier,
  • ANK3
  • identifiers:
  • 288,
  • ENSG00000151150,
  • ANK3

Genome feature

Region: gene ? Length: 707229  
Location: 10:60026298-60733526 reverse strand Cyto location: 10q21.2


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Proteins

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SNPs

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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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Expression

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

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Other

2011 SN Ps

5 Cross References

19 Data Sets

6 Homologues

1 Located Features

90 Rna Seq Results