ANK2 - ankyrin 2 Gene
Also Known as LQT4; ANK-2; FAP87; CFAP87; brank-2
Species: Homo sapiens
About ANK2
This gene has 129 transcripts (splice variants), 236 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 29.6), kidney (RPKM 21.6) and 13 other tissues.
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]
ANK2 Products (73)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127493.3 | NP_001120965.1 | ankyrin-2 isoform 3 |
| NM_001148.6 | NP_001139.3 | ankyrin-2 isoform 1 |
| NM_001354225.2 | NP_001341154.1 | ankyrin-2 isoform 4 |
| NM_001354228.2 | NP_001341157.1 | ankyrin-2 isoform 5 |
| NM_001354230.2 | NP_001341159.1 | ankyrin-2 isoform 6 |
| NM_001354231.2 | NP_001341160.1 | ankyrin-2 isoform 7 |
| NM_001354232.2 | NP_001341161.1 | ankyrin-2 isoform 8 |
| NM_001354235.2 | NP_001341164.1 | ankyrin-2 isoform 9 |
| NM_001354236.2 | NP_001341165.1 | ankyrin-2 isoform 10 |
| NM_001354237.2 | NP_001341166.1 | ankyrin-2 isoform 11 |
| NM_001354239.2 | NP_001341168.1 | ankyrin-2 isoform 12 |
| NM_001354240.2 | NP_001341169.1 | ankyrin-2 isoform 13 |
| NM_001354241.2 | NP_001341170.1 | ankyrin-2 isoform 14 |
| NM_001354242.2 | NP_001341171.1 | ankyrin-2 isoform 15 |
| NM_001354243.2 | NP_001341172.1 | ankyrin-2 isoform 16 |
| NM_001354244.2 | NP_001341173.1 | ankyrin-2 isoform 17 |
| NM_001354245.2 | NP_001341174.1 | ankyrin-2 isoform 18 |
| NM_001354246.2 | NP_001341175.1 | ankyrin-2 isoform 19 |
| NM_001354249.2 | NP_001341178.1 | ankyrin-2 isoform 20 |
| NM_001354252.2 | NP_001341181.1 | ankyrin-2 isoform 21 |
| NM_001354253.2 | NP_001341182.1 | ankyrin-2 isoform 22 |
| NM_001354254.2 | NP_001341183.1 | ankyrin-2 isoform 23 |
| NM_001354255.2 | NP_001341184.1 | ankyrin-2 isoform 24 |
| NM_001354256.2 | NP_001341185.1 | ankyrin-2 isoform 25 |
| NM_001354257.2 | NP_001341186.1 | ankyrin-2 isoform 26 |
| NM_001354258.2 | NP_001341187.1 | ankyrin-2 isoform 27 |
| NM_001354260.2 | NP_001341189.1 | ankyrin-2 isoform 28 |
| NM_001354261.2 | NP_001341190.1 | ankyrin-2 isoform 29 |
| NM_001354262.2 | NP_001341191.1 | ankyrin-2 isoform 30 |
| NM_001354264.2 | NP_001341193.1 | ankyrin-2 isoform 31 |
| NM_001354265.2 | NP_001341194.1 | ankyrin-2 isoform 32 |
| NM_001354266.2 | NP_001341195.1 | ankyrin-2 isoform 33 |
| NM_001354267.2 | NP_001341196.1 | ankyrin-2 isoform 33 |
| NM_001354268.2 | NP_001341197.1 | ankyrin-2 isoform 35 |
| NM_001354269.3 | NP_001341198.1 | ankyrin-2 isoform 36 |
| NM_001354270.2 | NP_001341199.1 | ankyrin-2 isoform 37 |
| NM_001354271.2 | NP_001341200.1 | ankyrin-2 isoform 38 |
| NM_001354272.2 | NP_001341201.1 | ankyrin-2 isoform 39 |
| NM_001354273.2 | NP_001341202.1 | ankyrin-2 isoform 40 |
| NM_001354274.2 | NP_001341203.1 | ankyrin-2 isoform 41 |
| NM_001354275.2 | NP_001341204.1 | ankyrin-2 isoform 42 |
| NM_001354276.2 | NP_001341205.1 | ankyrin-2 isoform 43 |
| NM_001354277.2 | NP_001341206.1 | ankyrin-2 isoform 44 |
| NM_001354278.2 | NP_001341207.1 | ankyrin-2 isoform 45 |
| NM_001354279.2 | NP_001341208.1 | ankyrin-2 isoform 46 |
| NM_001354280.2 | NP_001341209.1 | ankyrin-2 isoform 47 |
| NM_001354281.2 | NP_001341210.1 | ankyrin-2 isoform 48 |
| NM_001354282.2 | NP_001341211.1 | ankyrin-2 isoform 49 |
| NM_001386142.1 | NP_001373071.1 | ankyrin-2 isoform 50 |
| NM_001386143.1 | NP_001373072.1 | ankyrin-2 isoform 51 |
| NM_001386144.1 | NP_001373073.1 | ankyrin-2 isoform 52 |
| NM_001386146.1 | NP_001373075.1 | ankyrin-2 isoform 53 |
| NM_001386147.1 | NP_001373076.1 | ankyrin-2 isoform 54 |
| NM_001386148.2 | NP_001373077.1 | ankyrin-2 isoform 55 |
| NM_001386149.1 | NP_001373078.1 | ankyrin-2 isoform 56 |
| NM_001386150.1 | NP_001373079.1 | ankyrin-2 isoform 57 |
| NM_001386151.1 | NP_001373080.1 | ankyrin-2 isoform 58 |
| NM_001386152.1 | NP_001373081.1 | ankyrin-2 isoform 59 |
| NM_001386153.1 | NP_001373082.1 | ankyrin-2 isoform 60 |
| NM_001386154.1 | NP_001373083.1 | ankyrin-2 isoform 61 |
| NM_001386156.1 | NP_001373085.1 | ankyrin-2 isoform 62 |
| NM_001386157.1 | NP_001373086.1 | ankyrin-2 isoform 63 |
| NM_001386158.1 | NP_001373087.1 | ankyrin-2 isoform 64 |
| NM_001386160.1 | NP_001373089.1 | ankyrin-2 isoform 71 |
| NM_001386161.1 | NP_001373090.1 | ankyrin-2 isoform 25 |
| NM_001386162.1 | NP_001373091.1 | ankyrin-2 isoform 43 |
| NM_001386166.1 | NP_001373095.1 | ankyrin-2 isoform 65 |
| NM_001386167.1 | NP_001373096.1 | ankyrin-2 isoform 66 |
| NM_001386174.1 | NP_001373103.1 | ankyrin-2 isoform 67 |
| NM_001386175.1 | NP_001373104.1 | ankyrin-2 isoform 68 |
| NM_001386186.2 | NP_001373115.1 | ankyrin-2 isoform 69 |
| NM_001386187.2 | NP_001373116.1 | ankyrin-2 isoform 70 |
| NM_020977.5 | NP_066187.2 | ankyrin-2 isoform 2 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
21177872 | GOA |
| enables phosphorylation-dependent protein binding |
IPI
IPI: Inferred from physical interaction
|
25950943 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15262991 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
18782775 | GOA |
| enables spectrin binding |
IPI
IPI: Inferred from physical interaction
|
15262991 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
20610380 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
15611082 | GOA |
ANK2 Protein Structure
Ank_2: Ankyrin repeats (3 copies) (37 - 126)
Ank_2: Ankyrin repeats (3 copies) (131 - 186)
Ank_4: Ankyrin repeats (many copies) (193 - 253)
Ank_2: Ankyrin repeats (3 copies) (270 - 360)
Ank_4: Ankyrin repeats (many copies) (365 - 418)
Ank_2: Ankyrin repeats (3 copies) (433 - 493)
Ank: Ankyrin repeat (498 - 527)
Ank: Ankyrin repeat (529 - 554)
Ank_2: Ankyrin repeats (3 copies) (563 - 624)
Ank_2: Ankyrin repeats (3 copies) (629 - 689)
Ank_2: Ankyrin repeats (3 copies) (699 - 789)
ZU5: ZU5 domain (966 - 1045)
ZU5: ZU5 domain (1048 - 1102)
Death: Death domain (3572 - 3650)
- 0
- 700
- 1400
- 2100
- 2800
- 3500
- 3957 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ankyrin-2 |
|
ANK2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
ANK2 | Q01484 | DMD | Homo sapiens | P11532-5 | 19109891 | |
|
Intra
|
ANK2 | Q01484 | RRBP1 | Homo sapiens | Q9P2E9 | 30021884 | |
|
Intra
|
ANK2 | Q01484 | RRBP1 | Homo sapiens | Q9P2E9 | 36950384 | |
|
Intra
|
ANK2 | Q01484 | KCNJ11 | Homo sapiens | Q14654 | 19805355 | |
|
Intra
|
ANK2 | Q01484 | EHD3 | Homo sapiens | Q9NZN3 | 20489164 | |
|
Intra
|
ANK2 | Q01484 | EHD3 | Homo sapiens | Q9NZN3 | 20489164 | |
|
Intra
|
ANK2 | Q01484 | DYNC1H1 | Homo sapiens | Q14204 | 36950384 | |
|
Intra
|
ANK2 | Q01484 | ACOT7 | Homo sapiens | O00154 | 26949739 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
|
| Long Qt Syndrome 1 |
|
|
| Long Qt Syndrome |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Atrial Fibrillation |
|
|
| Long Qt Syndrome 6 |
|
|
| Long Qt Syndrome 5 |
|
|
| Long Qt Syndrome 9 |
|
|
| Long Qt Syndrome 12 |
|
|
| Long Qt Syndrome 11 |
|
|
| Long Qt Syndrome 10 |
|
|
| Long Qt Syndrome 3 |
|
|
| Legionnaire Disease |
|
|
| Sinoatrial Node Disease |
|
|
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
|
| Long Qt Syndrome 2 |
|
|
| Spinocerebellar Ataxia 5 |
|
|
| Long Qt Syndrome 13 |
|
|
| Brugada Syndrome 3 |
|
|
| Progressive Familial Heart Block, Type Ia |
|
|
| Legionellosis |
|
|
| Timothy Syndrome |
|
|
| Pontiac Fever |
|
|
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
|
| Short Qt Syndrome |
|
|
| Sick Sinus Syndrome |
|
|
| Coffin-Siris Syndrome 1 |
|
|
| Jervell And Lange-Nielsen Syndrome 1 |
|
|
| Mitochondrial Dna Depletion Syndrome 3 |
|
|
| Autism Spectrum Disorder |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Hereditary Spherocytosis |
|
|
| Heart Conduction Disease |
|
|
| Brugada Syndrome |
|
|
| Alcohol Dependence |
|
|
| Autism |
|
|
| Familial Atrial Fibrillation |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Left Ventricular Noncompaction |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | ANK2 | MGD | MGI:88025 |
| Felis catus | ANK2 | VGNC | VGNC:107310 |
| Rattus norvegicus | ANK2 | RGD | RGD:620156 |
| Macaca mulatta | ANK2 | VGNC | VGNC:100200 |
| Others | ANK2 | NCBI |