ANK2 (Entrez ID: 287)

Entrez Gene ID	287
Official Gene Symbol	ANK2 (GeneCards)
Full name	ankyrin 2
Location	4q25-q26
Other ids	Vega : OTTHUMG00000132912 MIM : 106410 HGNC : HGNC:493 Ensembl : ENSG00000145362
Other names	LQT4, ANK-2, brank-2
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]

Variants

Found 12 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
6054	287	ANK2	4	114131032	114131032	Asymptomatic	HiSeq X Ten
6104	287	ANK2	4	114340520	114340520	Asymptomatic	HiSeq X Ten HiSeq 2000
6202	287	ANK2	4	114201346	114201346	Asymptomatic	HiSeq X Ten HiSeq 2000
6309	287	ANK2	4	113975237	113975237	Asymptomatic	HiSeq X Ten HiSeq 2000
6437	287	ANK2	4	113882130	113882130	Asymptomatic	HiSeq X Ten HiSeq 2000
6451	287	ANK2	4	114040147	114040147	Asymptomatic	HiSeq X Ten HiSeq 2000
6607	287	ANK2	4	114078424	114078424	Asymptomatic	HiSeq X Ten HiSeq 2000
6712	287	ANK2	4	114226193	114226193	Asymptomatic	HiSeq X Ten HiSeq 2000
7257	287	ANK2	4	113961036	113961036	Cockayne syndrome	HiSeq X Ten HiSeq 2000
7384	287	ANK2	4	114092372	114092372	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
22871	287	ANK2	4	114243583	114243583	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
34344	287	ANK2	4	113841344	113841344	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing