RBCC Red Blood Cell Collection

ANK2_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ANK2
Protein names and data: ANK2_HUMAN , Ankyrin-2; ANK-2 , Ankyrin-B; Brain ankyrin; Non-erythroid ankyrin Lenght: 3957 a.a.
Mass: 433715 Da
fasta formatted sequence
Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate.
Disease: ( OMIM: 106410 600919 ) Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton. Membrane. Cytoplasm, myofibril, sarcomere, M line (By similarity). Apical cell membrane (By similarity). Cell membrane. Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict intracellular compartment of neonatal cardiomyocytes (By similarity). In skeletal muscle, localizes to neuromuscular junctions (By similarity).
Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors in retina.

Genetic variants

685 - 685 G -> E (in a breast cancer sample; somatic mutation). VAR_035606
687 - 687 N -> S (in dbSNP:rs29372). VAR_055504 29372
1267 - 1267 G -> R (in a colorectal cancer sample; somatic mutation). VAR_035607
1458 - 1458 E -> G (in LQT4; loss of function; dbSNP:rs72544141). VAR_022934 72544141
2369 - 2369 V -> A (in dbSNP:rs28377576). VAR_055505 28377576
3653 - 3653 T -> K (in a colorectal cancer sample; somatic mutation). VAR_035608
3740 - 3740 L -> I (in LQT4; loss of function; dbSNP:rs35530544). VAR_022935 35530544
3744 - 3744 T -> N (in LQT4; loss of function). VAR_022936
3906 - 3906 R -> W (in LQT4; loss of function; dbSNP:rs121912706). VAR_022937 121912706
3931 - 3931 E -> K (in LQT4; loss of function; dbSNP:rs45454496). VAR_022938 45454496

Database cross-references

UniProt: Q01484
Ensembl: ENST00000357077
Ensembl: ENST00000394537
Ensembl: ENST00000506722
Ensembl: ENST00000510275
MIM: 106410
MIM: 600919
neXtProt: NX_Q01484
Antibodypedia: Q01484 (may not find the protein thus also not any antibody)
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