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Gene : ANK2 Homo sapiens

Name  ? ankyrin 2 Cytological Location  4q25-q26
Brief Description  ankyrin 2
description  This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. 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. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
  • synonyms:
  • NM_001148,
  • uc062zcy.1,
  • ankyrin 2, neuronal,
  • LQT4,
  • OTTHUMG00000132912,
  • ANK2,
  • LQT4,
  • brank-2,
  • long (electrocardiographic) QT syndrome 4,
  • ANK-2,
  • M37123,
  • HGNC:493
  • identifiers:
  • 287,
  • ENSG00000145362,
  • ANK2

Genome feature

Region: gene ? Length: 677723  
Location: 4:112706018-113383740 Cyto location: 4q25-q26


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

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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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

68 SN Ps

5 Cross References

19 Data Sets

6 Homologues

4 Located Features

90 Rna Seq Results