Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

ANK2_HUMAN

Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. 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. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) . Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration . [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
3740 Leu Ile LongQTsyndrome4(LQT4) -
3744 Thr Asn LongQTsyndrome4(LQT4) -
3906 Arg Trp LongQTsyndrome4(LQT4) -
3931 Glu Lys LongQTsyndrome4(LQT4) -
ELM instance Name Type Start End Partner
ELMI004464 LIG_LIR_Gen_1 LIG 1591 1600 -

Molecular function

Term Name % Distance from the top of the tree Annotated in ANK2_HUMAN
GO:0017076 purine nucleotide binding 26.5625 4 no
GO:0030554 adenyl nucleotide binding 25.0000 5 no
GO:0032555 purine ribonucleotide binding 25.0000 4 no
GO:0032559 adenyl ribonucleotide binding 23.4375 5 no
GO:0035639 purine ribonucleoside triphosphate binding 23.4375 4 no
GO:0019900 kinase binding 21.8750 4 yes
GO:0005524 ATP binding 21.8750 5 no
GO:0003779 actin binding 20.3125 4 no
GO:0019901 protein kinase binding 18.7500 5 yes
GO:0051117 ATPase binding 7.8125 4 yes
GO:0140031 phosphorylation-dependent protein binding 3.1250 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in ANK2_HUMAN
GO:0051128 regulation of cellular component organization 56.2500 4 no
GO:0048522 positive regulation of cellular process 54.6875 4 yes
GO:0022607 cellular component assembly 51.5625 4 yes
GO:0008104 protein localization 45.3125 4 yes
GO:0060255 regulation of macromolecule metabolic process 45.3125 4 yes
GO:0006996 organelle organization 45.3125 4 no
GO:0030030 cell projection organization 45.3125 4 no
GO:0048523 negative regulation of cellular process 42.1875 4 no
GO:0010646 regulation of cell communication 39.0625 4 yes
GO:0051171 regulation of nitrogen compound metabolic process 39.0625 4 no
GO:0080090 regulation of primary metabolic process 39.0625 4 no
GO:0051049 regulation of transport 37.5000 4 yes
GO:0031323 regulation of cellular metabolic process 37.5000 4 no
GO:0016192 vesicle-mediated transport 34.3750 4 yes
GO:0120036 plasma membrane bounded cell projection organization 34.3750 5 no
GO:0009966 regulation of signal transduction 34.3750 4 no
GO:0009893 positive regulation of metabolic process 32.8125 4 yes
GO:0051246 regulation of protein metabolic process 32.8125 5 no
GO:0010468 regulation of gene expression 31.2500 5 yes
GO:0010604 positive regulation of macromolecule metabolic process 31.2500 5 yes
GO:0031344 regulation of cell projection organization 28.1250 5 no
GO:0034330 cell junction organization 26.5625 4 yes
GO:0007010 cytoskeleton organization 26.5625 5 no
GO:0044087 regulation of cellular component biogenesis 26.5625 4 no
GO:0031399 regulation of protein modification process 26.5625 6 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 26.5625 6 no
GO:0071702 organic substance transport 25.0000 4 yes
GO:0072657 protein localization to membrane 25.0000 4 yes
GO:0009892 negative regulation of metabolic process 25.0000 4 no
GO:0010605 negative regulation of macromolecule metabolic process 25.0000 5 no
GO:0051172 negative regulation of nitrogen compound metabolic process 25.0000 5 no
GO:0051130 positive regulation of cellular component organization 25.0000 5 no
GO:1902531 regulation of intracellular signal transduction 25.0000 5 no
GO:0043269 regulation of ion transport 23.4375 5 yes
GO:1990778 protein localization to cell periphery 23.4375 5 yes
GO:0033043 regulation of organelle organization 23.4375 5 no
GO:0031175 neuron projection development 23.4375 6 no
GO:0051173 positive regulation of nitrogen compound metabolic process 23.4375 5 no
GO:0031325 positive regulation of cellular metabolic process 23.4375 5 no
GO:0001932 regulation of protein phosphorylation 23.4375 7 no
GO:0019220 regulation of phosphate metabolic process 23.4375 6 no
GO:0042325 regulation of phosphorylation 23.4375 7 no
GO:0051094 positive regulation of developmental process 23.4375 4 no
GO:0051174 regulation of phosphorus metabolic process 23.4375 5 no
GO:0022603 regulation of anatomical structure morphogenesis 23.4375 4 no
GO:0071705 nitrogen compound transport 21.8750 4 yes
GO:0032990 cell part morphogenesis 21.8750 4 no
GO:0048812 neuron projection morphogenesis 21.8750 7 no
GO:0048858 cell projection morphogenesis 21.8750 5 no
GO:0051247 positive regulation of protein metabolic process 21.8750 6 no
GO:0060341 regulation of cellular localization 21.8750 4 no
GO:0120039 plasma membrane bounded cell projection morphogenesis 21.8750 6 no
GO:0051240 positive regulation of multicellular organismal process 21.8750 4 no
GO:0034762 regulation of transmembrane transport 20.3125 4 yes
GO:0034765 regulation of ion transmembrane transport 20.3125 5 yes
GO:0072659 protein localization to plasma membrane 20.3125 5 yes
GO:0051129 negative regulation of cellular component organization 20.3125 5 no
GO:0010975 regulation of neuron projection development 20.3125 7 no
GO:0032880 regulation of protein localization 20.3125 5 no
GO:0051248 negative regulation of protein metabolic process 20.3125 6 no
GO:0043933 protein-containing complex organization 20.3125 4 no
GO:0010941 regulation of cell death 20.3125 4 no
GO:0071310 cellular response to organic substance 20.3125 4 no
GO:0009889 regulation of biosynthetic process 20.3125 4 no
GO:0010556 regulation of macromolecule biosynthetic process 20.3125 5 no
GO:0031326 regulation of cellular biosynthetic process 20.3125 5 no
GO:0043085 positive regulation of catalytic activity 20.3125 4 no
GO:0010647 positive regulation of cell communication 20.3125 5 no
GO:0050808 synapse organization 20.3125 5 no
GO:0015031 protein transport 17.1875 4 yes
GO:0032970 regulation of actin filament-based process 17.1875 4 yes
GO:0051050 positive regulation of transport 17.1875 4 yes
GO:0061024 membrane organization 17.1875 4 yes
GO:0034329 cell junction assembly 15.6250 5 yes
GO:1904062 regulation of cation transmembrane transport 15.6250 6 yes
GO:0006897 endocytosis 14.0625 5 yes
GO:0010628 positive regulation of gene expression 14.0625 6 yes
GO:0010959 regulation of metal ion transport 14.0625 6 yes
GO:0022898 regulation of transmembrane transporter activity 14.0625 4 yes
GO:0032412 regulation of ion transmembrane transporter activity 12.5000 5 yes
GO:0006811 ion transport 10.9375 4 yes
GO:0006812 cation transport 10.9375 5 yes
GO:0034764 positive regulation of transmembrane transport 10.9375 5 yes
GO:0034767 positive regulation of ion transmembrane transport 10.9375 6 yes
GO:0043270 positive regulation of ion transport 10.9375 5 yes
GO:0048878 chemical homeostasis 10.9375 4 yes
GO:0051924 regulation of calcium ion transport 10.9375 7 yes
GO:1904064 positive regulation of cation transmembrane transport 10.9375 7 yes
GO:0001508 action potential 9.3750 4 yes
GO:0032411 positive regulation of transporter activity 9.3750 4 yes
GO:0032414 positive regulation of ion transmembrane transporter activity 9.3750 5 yes
GO:0033365 protein localization to organelle 9.3750 5 yes
GO:0044057 regulation of system process 9.3750 4 yes
GO:0050801 ion homeostasis 9.3750 5 yes
GO:0055065 metal ion homeostasis 9.3750 7 yes
GO:0055080 cation homeostasis 9.3750 6 yes
GO:0098771 inorganic ion homeostasis 9.3750 6 yes
GO:1903169 regulation of calcium ion transmembrane transport 9.3750 7 yes
GO:2001257 regulation of cation channel activity 9.3750 6 yes
GO:0007043 cell-cell junction assembly 7.8125 6 yes
GO:0030001 metal ion transport 7.8125 6 yes
GO:0045216 cell-cell junction organization 7.8125 5 yes
GO:2001259 positive regulation of cation channel activity 7.8125 6 yes
GO:0008016 regulation of heart contraction 6.2500 6 yes
GO:0019722 calcium-mediated signaling 6.2500 5 yes
GO:0019932 second-messenger-mediated signaling 6.2500 4 yes
GO:0050821 protein stabilization 6.2500 4 yes
GO:0051279 regulation of release of sequestered calcium ion into cytosol 6.2500 5 yes
GO:0051282 regulation of sequestering of calcium ion 6.2500 4 yes
GO:0051928 positive regulation of calcium ion transport 6.2500 6 yes
GO:1903522 regulation of blood circulation 6.2500 5 yes
GO:1904427 positive regulation of calcium ion transmembrane transport 6.2500 7 yes
GO:0006873 cellular ion homeostasis 4.6875 4 yes
GO:0006875 cellular metal ion homeostasis 4.6875 6 yes
GO:0006937 regulation of muscle contraction 4.6875 6 yes
GO:0006942 regulation of striated muscle contraction 4.6875 7 yes
GO:0030003 cellular cation homeostasis 4.6875 5 yes
GO:0043266 regulation of potassium ion transport 4.6875 7 yes
GO:0051899 membrane depolarization 4.6875 4 yes
GO:0055117 regulation of cardiac muscle contraction 4.6875 7 yes
GO:0070972 protein localization to endoplasmic reticulum 4.6875 6 yes
GO:0072507 divalent inorganic cation homeostasis 4.6875 7 yes
GO:0086010 membrane depolarization during action potential 4.6875 5 yes
GO:0090257 regulation of muscle system process 4.6875 5 yes
GO:1901019 regulation of calcium ion transmembrane transporter activity 4.6875 6 yes
GO:1901021 positive regulation of calcium ion transmembrane transporter activity 4.6875 6 yes
GO:1901379 regulation of potassium ion transmembrane transport 4.6875 7 yes
GO:1903779 regulation of cardiac conduction 4.6875 4 yes
GO:0006816 calcium ion transport 3.1250 7 yes
GO:0006874 cellular calcium ion homeostasis 3.1250 7 yes
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 3.1250 6 yes
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion 3.1250 7 yes
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling 3.1250 6 yes
GO:0030913 paranodal junction assembly 3.1250 4 yes
GO:0034394 protein localization to cell surface 3.1250 5 yes
GO:0055074 calcium ion homeostasis 3.1250 8 yes
GO:0070296 sarcoplasmic reticulum calcium ion transport 3.1250 8 yes
GO:0072503 cellular divalent inorganic cation homeostasis 3.1250 6 yes
GO:0086001 cardiac muscle cell action potential 3.1250 5 yes
GO:0086002 cardiac muscle cell action potential involved in contraction 3.1250 6 yes
GO:0086004 regulation of cardiac muscle cell contraction 3.1250 6 yes
GO:0086005 ventricular cardiac muscle cell action potential 3.1250 7 yes
GO:0098901 regulation of cardiac muscle cell action potential 3.1250 4 yes
GO:0098907 regulation of SA node cell action potential 3.1250 5 yes
GO:0098910 regulation of atrial cardiac muscle cell action potential 3.1250 5 yes
GO:1901016 regulation of potassium ion transmembrane transporter activity 3.1250 6 yes
GO:1903115 regulation of actin filament-based movement 3.1250 5 yes

Disease

Term Name % Distance from top the of the tree Annotated in ANK2_HUMAN
DOID:331 central nervous system disease 6.2500 3 no
DOID:936 brain disease 6.2500 4 no
DOID:0050701 electroclinical syndrome 4.6875 6 no
DOID:0112202 developmental and epileptic encephalopathy 4.6875 7 no
DOID:1826 epilepsy 4.6875 5 no
DOID:114 heart disease 3.1250 3 yes
DOID:0050703 infancy electroclinical syndrome 3.1250 7 no
DOID:0060169 benign familial infantile epilepsy 3.1250 8 no
DOID:12971 hereditary spherocytosis 3.1250 7 no
DOID:2355 anemia 3.1250 3 no
DOID:583 hemolytic anemia 3.1250 5 no
DOID:589 congenital hemolytic anemia 3.1250 6 no
DOID:720 normocytic anemia 3.1250 4 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
EHD3_HUMAN [view entry] [view interactions] Low throughput yes no
GBRL1_HUMAN [view interactions] Low throughput no yes
GBRL2_HUMAN [view entry] [view interactions] Low throughput yes yes
DCTN4_HUMAN [view entry] [view interactions] Low throughput yes yes
EHD1_HUMAN [view entry] [view interactions] Low throughput yes no
EHD2_HUMAN [view interactions] Low throughput no no
EHD4_HUMAN [view entry] [view interactions] Low throughput yes no
KCJ11_HUMAN [view interactions] Low throughput no no
CTNB1_HUMAN [view entry] [view interactions] Low throughput yes yes
ACTG_HUMAN [view entry] [view interactions] Low throughput yes yes
NDEL1_HUMAN [view entry] [view interactions] Low throughput yes yes
SGMR1_HUMAN [view entry] [view interactions] Low throughput yes yes
EPB42_HUMAN [view entry] [view interactions] Low throughput yes no
GBRAP_HUMAN [view interactions] Low throughput no no
MLP3A_HUMAN [view entry] [view interactions] Low throughput yes yes
MLP3B_HUMAN [view interactions] Low throughput no yes
MLP3C_HUMAN [view interactions] Low throughput no no
SPTN4_HUMAN [view entry] [view interactions] Low throughput yes no
GRB2_HUMAN [view entry] [view interactions] High throughput yes yes
NCK1_HUMAN [view interactions] High throughput no yes
TNIK_HUMAN [view entry] [view interactions] High throughput yes yes
CE120_HUMAN [view interactions] High throughput no no
MECOM_HUMAN [view interactions] High throughput no yes
RRBP1_HUMAN [view entry] [view interactions] High throughput yes yes
H12_HUMAN [view interactions] High throughput no yes
MYO1D_HUMAN [view entry] [view interactions] High throughput yes yes
FARP1_HUMAN [view entry] [view interactions] High throughput yes no
CRNL1_HUMAN [view interactions] High throughput no no
SPB1_HUMAN [view interactions] High throughput no yes
BACH_HUMAN [view entry] [view interactions] High throughput yes yes
TCPB_HUMAN [view entry] [view interactions] High throughput yes yes
SRCN1_HUMAN [view entry] [view interactions] High throughput yes yes
SYUA_HUMAN [view entry] [view interactions] High throughput yes no
UBAC2_HUMAN [view interactions] High throughput no yes
PRIO_HUMAN [view entry] [view interactions] High throughput yes yes
KIFA3_HUMAN [view entry] [view interactions] High throughput yes yes
KIF3A_HUMAN [view entry] [view interactions] High throughput yes yes
SPTN1_HUMAN [view entry] [view interactions] High throughput yes yes
ABCC8_HUMAN [view interactions] High throughput no yes
CYFP1_HUMAN [view entry] [view interactions] High throughput yes yes
HERC2_HUMAN [view interactions] High throughput no yes
MYCB2_HUMAN [view entry] [view interactions] High throughput yes no
PEX5R_HUMAN [view entry] [view interactions] High throughput yes yes
SYGP1_HUMAN [view entry] [view interactions] High throughput yes yes
DLG4_HUMAN [view entry] [view interactions] High throughput yes yes
SHAN3_HUMAN [view entry] [view interactions] High throughput yes no
AGAP2_HUMAN [view entry] [view interactions] High throughput yes yes
KCNQ1_HUMAN [view interactions] High throughput no yes
CAV3_HUMAN [view interactions] High throughput no no
RYBP_HUMAN [view interactions] High throughput no no
ANR28_HUMAN [view interactions] High throughput no no
DNJB5_HUMAN [view interactions] High throughput no yes
PICAL_HUMAN [view entry] [view interactions] High throughput yes yes
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
P53_HUMAN [view interactions] High throughput no no
MTEF1_HUMAN [view interactions] High throughput no yes
TAF9_HUMAN [view interactions] High throughput no yes
EZRI_HUMAN [view entry] [view interactions] High throughput yes no
MDC1_HUMAN [view interactions] High throughput no yes
EGFR_HUMAN [view interactions] High throughput no no
EPHB2_HUMAN [view entry] [view interactions] High throughput yes yes
FGFR1_HUMAN [view interactions] High throughput no yes
ECM29_HUMAN [view interactions] High throughput no no
ABCE1_HUMAN [view interactions] High throughput no yes
POPD2_HUMAN [view interactions] High throughput no no
HAX1_HUMAN [view interactions] High throughput no no
NUFP1_HUMAN [view interactions] High throughput no yes
DGUOK_HUMAN [view interactions] High throughput no yes
KTU_HUMAN [view interactions] High throughput no yes
PALM2_HUMAN [view entry] [view interactions] High throughput yes no
NTRK1_HUMAN [view interactions] High throughput no yes
RPGF5_HUMAN [view interactions] High throughput no yes
NCHL1_HUMAN [view entry] [view interactions] High throughput yes yes
JIP1_HUMAN [view entry] [view interactions] High throughput yes yes
HIF1N_HUMAN [view interactions] High throughput no yes
KALRN_HUMAN [view entry] [view interactions] High throughput yes yes
NEB2_HUMAN [view entry] [view interactions] High throughput yes yes
RGS14_HUMAN [view entry] [view interactions] High throughput yes yes
ACK1_HUMAN [view interactions] High throughput no yes
KI20A_HUMAN [view interactions] High throughput no yes
FZR1_HUMAN [view interactions] High throughput no no
MYPT2_HUMAN [view interactions] High throughput no no
CHST5_HUMAN [view interactions] High throughput no no
BTF3_HUMAN [view interactions] High throughput no yes
GPM6A_HUMAN [view entry] [view interactions] High throughput yes no
RASK_HUMAN [view entry] [view interactions] High throughput yes no
RN183_HUMAN [view interactions] High throughput no no
DNJB1_HUMAN [view entry] [view interactions] High throughput yes yes
DNJB4_HUMAN [view entry] [view interactions] High throughput yes yes
FLOT1_HUMAN [view entry] [view interactions] High throughput yes yes
LYN_HUMAN [view entry] [view interactions] High throughput yes no
MARCS_HUMAN [view entry] [view interactions] High throughput yes yes
OCLN_HUMAN [view interactions] High throughput no no
PROF1_HUMAN [view entry] [view interactions] High throughput yes yes
ZYX_HUMAN [view interactions] High throughput no no
NAA40_HUMAN [view interactions] High throughput no no
SCN8A_HUMAN [view entry] [view interactions] Computational yes no
SCN4B_HUMAN [view interactions] Computational no yes
NFASC_HUMAN [view entry] [view interactions] Computational yes yes
SPTN5_HUMAN [view interactions] Computational no no
ANK3_HUMAN [view entry] [view interactions] Computational yes yes
ANK1_HUMAN [view entry] [view interactions] Computational yes no
ITPR3_HUMAN [view interactions] Computational no yes
SCN1B_HUMAN [view interactions] Computational no no
2A5A_HUMAN [view interactions] Computational no yes
NRCAM_HUMAN [view entry] [view interactions] Computational yes no
SPTN2_HUMAN [view entry] [view interactions] Computational yes yes
ITPR2_HUMAN [view interactions] Computational no yes
E41L3_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ2_HUMAN [view entry] [view interactions] Computational yes yes
TKN1_HUMAN [view interactions] Computational no yes
CD44_HUMAN [view interactions] Computational no yes
SKP1_HUMAN [view interactions] Computational no yes
TIAM1_HUMAN [view entry] [view interactions] Computational yes yes
SPTB2_HUMAN [view entry] [view interactions] Computational yes yes
SCN2A_HUMAN [view entry] [view interactions] Computational yes yes
CAC1D_HUMAN [view interactions] Computational no yes
L1CAM_HUMAN [view entry] [view interactions] Computational yes yes
RYR2_HUMAN [view entry] [view interactions] Computational yes yes