| Gene Symbol |
ANK2
|
| Entrez Gene |
287
|
| Alt Symbol |
ANK-2, LQT4, brank-2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ankyrin 2, neuronal
|
| Other Description |
ankyrin B|ankyrin, brain|ankyrin-2|ankyrin-2, nonerythrocytic|non-erythroid ankyrin
|
| Swissprots |
Q08AC7 Q7Z3L5 Q08AC8 Q01485 Q01484
|
| Accessions |
AAA62828 CCQ43128 EAX06287 EAX06288 EAX06289 EAX06290 EAX06291 EAX06292 Q01484 AF131823 AK021894 AK095596 AK128049 AK294720 BAH11860 AK299767 BAH13122 AK299815 BAH13137 AK299893 BAH13164 AK307601 AL706912 BC017986 BC047498 BC125235 AAI25236 BC125236 AAI25237 BQ716903 BQ890406 BX537758 CAD97827 BX538132 CAD98033 BX538239 CAD98077 CN259048 DQ925692 ABL59919 DQ925693 ABL59920 X56957 CAA40278 X56958 CAA40279 Z26634 CAB42644 XM_005262942 XP_005262999 XM_005262945 XP_005263002 XM_005262948 XP_005263005 XM_006714188 XP_006714251 XM_006714189 XP_006714252 XM_006714190 XP_006714253 XM_006714191 XP_006714254 XM_006714192 XP_006714255 XM_006714193 XP_006714256 XM_006714194 XP_006714257 XM_011531891 XP_011530193 NM_001127493 NP_001120965 NM_001148 NP_001139 NM_020977 NP_066187
|
| 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. {ECO:0000250, ECO:0000269|PubMed:12571597}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19007774}. Membrane {ECO:0000269|PubMed:19007774}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}. Apical cell membrane {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:19007774}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. 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). {ECO:0000250}.
|
| 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. {ECO:0000269|PubMed:1830053, ECO:0000269|PubMed:1833308, ECO:0000269|PubMed:19007774}.
|
| Top Pathways |
Proteoglycans in cancer
|