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Ovarian Kaleidoscope Database (OKdb)

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ankyrin 2 OKDB#: 5749
 Symbols: ANK2 Species: human
 Synonyms: LQT4, ANK-2, FAP87, CFAP87, brank-2  Locus: 4q25-q26 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: 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]
General function Cytoskeleton
Comment
Cellular localization Cytoskeleton
Comment
Ovarian function
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Expression regulated by
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Ovarian localization
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Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: March 27, 2020, 6:03 p.m. by: system   email:
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last update: March 27, 2020, 6:04 p.m. by: hsueh    email:



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