ANK2

ANK2

protein
Name = ANK2, ankyrinB
caption =


width =
HGNCid = 493
Symbol = ANK2
AltSymbols = AnkyrinB
EntrezGene = 287
OMIM = 106410
RefSeq = NM_001148
UniProt = Q01484
PDB =
ECnumber =
Chromosome = 4
Arm = q
Band = 25
LocusSupplementaryData = -q27

Ankyrin 2, neuronal, also known as ANK2, is a human gene.cite web | title = Entrez Gene: ANK2 ankyrin 2, neuronal | url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=287| accessdate = ] cite journal | author = Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, "et al" | title = Mapping of a gene for long QT syndrome to chromosome 4q25-27 | journal = Am. J. Hum. Genet. | volume = 57 | issue = 5 | pages = 1114–22 | year = 1995 | month = November | pmid = 7485162 | pmc = 1801360 | doi = | url = | issn = ]

Function

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.cite journal | author = Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V | title = Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death | journal = Nature | volume = 421 | issue = 6923 | pages = 634–9 | year = 2003 | month = February | pmid = 12571597 | doi = 10.1038/nature01335 | url = | issn = ] Multiple transcript variants encoding different isoforms have been described.

Ankyrin family

The protein encoded by the ANK2 gene is 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.

References

External links

*


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • ANK2 — Обозначения Символы ANK2; LQT4 Entrez Gene …   Википедия

  • Ankyrin — protein Name = ANK1, erythrocytic caption = Ribbon diagram of a fragment of the membrane binding domain of ankyrin R. From PDB|1N11. width = 250 HGNCid = 492 Symbol = ANK1 AltSymbols = AnkyrinR, Band2.1 EntrezGene = 286 OMIM = 182900 RefSeq = NM… …   Wikipedia

  • Romano-Ward syndrome — Infobox Disease Name = Romano Ward syndrome Caption = Schematic representation of normal ECG trace (sinus rhythm), with waves, segments, and intervals labeled. DiseasesDB = 11661 ICD10 = ICD9 = ICD9|794.31 ICDO = OMIM = 192500 MedlinePlus =… …   Wikipedia

  • 4-я хромосома человека — Идиограмма 4 й хромосомы человека 4 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит более 191 млн пар оснований[1], ч …   Википедия

  • ANK3 — protein Name = ANK3 ankyrin 3, node of Ranvier (ankyrin G) caption = width = HGNCid = 494 Symbol = ANK3 AltSymbols = AnkyrinG EntrezGene = 288 OMIM = 600465 RefSeq = NM 020987 UniProt = Q12955 PDB = ECnumber = Chromosome = 10 Arm = q Band = 21… …   Wikipedia

  • Síndrome de Romano-Ward — Representación esquemática de un registro de electrocardiograma del ritmo sinusal, en el que se señalan las ondas, segmentos e intervalos. Clasificación y recursos e …   Wikipedia Español

  • Microtubule — Space filling model of a microtubule segment derived from cryo electron microscopy. The protofilaments are seen running along the axis of the segment. The microtubule (+) end is towards the top of the image.[1] Microtubules are a component of the …   Wikipedia

  • Keratin — Not to be confused with kerogen, carotene, chitin, or creatine. Microscopy of keratin filaments inside cells. Keratin refers to a family of fibrous structural proteins. Keratin is the key structural material making up the outer layer of human… …   Wikipedia

  • Cytoskeleton — The eukaryotic cytoskeleton. Actin filaments are shown in red, microtubules in green, and the nuclei are in blue. The cytoskeleton (also CSK) is a cellular scaffolding or skeleton contained within a cell s cytoplasm and is made out of protein.… …   Wikipedia

  • Microfilament — Actin cytoskeleton of mouse embryo fibroblasts, stained with Fluorescein isothiocyanate phalloidin Microfilaments ( or actin filaments) are the thinnest filaments of the cytoskeleton, a structure found in the cytoplasm of all eukaryotic cells.… …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”