ENSG00000145362


Homo sapiens

Features
Gene ID: ENSG00000145362
  
Biological name :ANK2
  
Synonyms : ANK2 / ankyrin 2 / Q01484
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q25
Gene start: 112818109
Gene end: 113383740
  
Corresponding Affymetrix probe sets: 202920_at (Human Genome U133 Plus 2.0 Array)   202921_s_at (Human Genome U133 Plus 2.0 Array)   216195_at (Human Genome U133 Plus 2.0 Array)   232606_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422853
Ensembl peptide - ENSP00000422498
Ensembl peptide - ENSP00000422888
Ensembl peptide - ENSP00000489091
Ensembl peptide - ENSP00000482888
Ensembl peptide - ENSP00000426994
Ensembl peptide - ENSP00000426944
Ensembl peptide - ENSP00000425775
Ensembl peptide - ENSP00000424722
Ensembl peptide - ENSP00000423799
Ensembl peptide - ENSP00000422900
Ensembl peptide - ENSP00000264366
Ensembl peptide - ENSP00000349588
Ensembl peptide - ENSP00000378044
Ensembl peptide - ENSP00000421011
Ensembl peptide - ENSP00000421023
Ensembl peptide - ENSP00000421059
Ensembl peptide - ENSP00000421067
Ensembl peptide - ENSP00000422486
NCBI entrez gene - 287     See in Manteia.
OMIM - 106410
RefSeq - XM_017008112
RefSeq - XM_017008091
RefSeq - XM_017008092
RefSeq - XM_017008093
RefSeq - XM_017008094
RefSeq - XM_017008095
RefSeq - XM_017008096
RefSeq - XM_017008097
RefSeq - XM_017008098
RefSeq - XM_017008099
RefSeq - XM_017008100
RefSeq - XM_017008101
RefSeq - XM_017008102
RefSeq - XM_017008103
RefSeq - XM_017008104
RefSeq - XM_017008105
RefSeq - XM_017008106
RefSeq - XM_017008107
RefSeq - XM_017008108
RefSeq - XM_017008109
RefSeq - XM_017008110
RefSeq - XM_017008111
RefSeq - NM_001127493
RefSeq - NM_001148
RefSeq - NM_001354237
RefSeq - NM_001354252
RefSeq - NM_020977
RefSeq - XM_005262945
RefSeq - XM_017008067
RefSeq - XM_017008068
RefSeq - XM_017008069
RefSeq - XM_017008070
RefSeq - XM_017008071
RefSeq - XM_017008072
RefSeq - XM_017008073
RefSeq - XM_017008074
RefSeq - XM_017008075
RefSeq - XM_017008076
RefSeq - XM_017008077
RefSeq - XM_017008078
RefSeq - XM_017008079
RefSeq - XM_017008080
RefSeq - XM_017008081
RefSeq - XM_017008082
RefSeq - XM_017008083
RefSeq - XM_017008084
RefSeq - XM_017008085
RefSeq - XM_017008086
RefSeq - XM_017008087
RefSeq - XM_017008088
RefSeq - XM_017008089
RefSeq - XM_017008090
RefSeq Peptide - NP_066187
RefSeq Peptide - NP_001341166
RefSeq Peptide - NP_001341181
RefSeq Peptide - NP_001120965
RefSeq Peptide - NP_001139
swissprot - D6R9U4
swissprot - B7Z651
swissprot - A0A0U1RQN6
swissprot - H0Y8X8
swissprot - H0Y8Y2
swissprot - E9PHW9
swissprot - H0Y933
swissprot - H0YAG3
swissprot - I6L894
swissprot - Q01484
swissprot - A0A087WZU3
swissprot - H0Y931
swissprot - E9PCH6
swissprot - D6RIY9
swissprot - D6RHE1
swissprot - D6RHC5
Ensembl - ENSG00000145362
  
Related genetic diseases (OMIM): 600919 - Cardiac arrhythmia, ankyrin-B-related, 600919
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ank2aENSDARG00000009026Danio rerio
 ank2bENSDARG00000043313Danio rerio
 ANK2ENSGALG00000012044Gallus gallus
 Ank2ENSMUSG00000032826Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ANK3 / Q12955 / ankyrin 3ENSG0000015115043
ANK1 / P16157 / ankyrin 1ENSG0000002953425
TNKS2 / Q9H2K2 / tankyrase 2ENSG000001078549
TNKS / O95271 / tankyraseENSG000001732739
Q8N8A2 / ANKRD44 / ankyrin repeat domain 44ENSG000000654137
O15084 / ANKRD28 / ankyrin repeat domain 28ENSG000002065607
INVS / Q9Y283 / inversinENSG000001195097
Q8NB46 / ANKRD52 / ankyrin repeat domain 52ENSG000001396457
E5RJM6 / ANKRD65 / ankyrin repeat domain 65ENSG000002350984


Protein motifs (from Interpro)
Interpro ID Name
 IPR000488  Death domain
 IPR000906  ZU5 domain
 IPR002110  Ankyrin repeat
 IPR011029  Death-like domain superfamily
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0003283 atrial septum development IMP
 biological_processGO:0006874 cellular calcium ion homeostasis ISS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0010628 positive regulation of gene expression IGI
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
 biological_processGO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030913 paranodal junction assembly IEA
 biological_processGO:0031647 regulation of protein stability IC
 biological_processGO:0033292 T-tubule organization ISS
 biological_processGO:0033365 protein localization to organelle IGI
 biological_processGO:0034394 protein localization to cell surface ISS
 biological_processGO:0034613 cellular protein localization IGI
 biological_processGO:0036309 protein localization to M-band ISS
 biological_processGO:0036371 protein localization to T-tubule ISS
 biological_processGO:0043268 positive regulation of potassium ion transport ISS
 biological_processGO:0050821 protein stabilization ISS
 biological_processGO:0051279 regulation of release of sequestered calcium ion into cytosol IGI
 biological_processGO:0051597 response to methylmercury IEA
 biological_processGO:0051924 regulation of calcium ion transport IGI
 biological_processGO:0051928 positive regulation of calcium ion transport ISS
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP
 biological_processGO:0070296 sarcoplasmic reticulum calcium ion transport TAS
 biological_processGO:0070972 protein localization to endoplasmic reticulum IGI
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:0086004 regulation of cardiac muscle cell contraction IGI
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IMP
 biological_processGO:0086014 atrial cardiac muscle cell action potential IMP
 biological_processGO:0086015 SA node cell action potential ISS
 biological_processGO:0086046 membrane depolarization during SA node cell action potential TAS
 biological_processGO:0086066 atrial cardiac muscle cell to AV node cell communication ISS
 biological_processGO:0086070 SA node cell to atrial cardiac muscle cell communication IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction ISS
 biological_processGO:0098907 regulation of SA node cell action potential IMP
 biological_processGO:0098910 regulation of atrial cardiac muscle cell action potential IMP
 biological_processGO:1901018 positive regulation of potassium ion transmembrane transporter activity ISS
 biological_processGO:1901019 regulation of calcium ion transmembrane transporter activity ISS
 biological_processGO:1901021 positive regulation of calcium ion transmembrane transporter activity ISS
 biological_processGO:2001259 positive regulation of cation channel activity ISS
 cellular_componentGO:0005622 intracellular IGI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0014704 intercalated disc ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030315 T-tubule ISS
 cellular_componentGO:0031430 M band ISS
 cellular_componentGO:0031672 A band ISS
 cellular_componentGO:0042383 sarcolemma ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043034 costamere IBA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0055037 recycling endosome IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0030507 spectrin binding IPI
 molecular_functionGO:0030674 protein binding, bridging ISS
 molecular_functionGO:0044325 ion channel binding ISS
 molecular_functionGO:0051117 ATPase binding ISS


Pathways (from Reactome)
Pathway description
Interaction between L1 and Ankyrins
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001688 Sinus bradycardia 
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 HP:0005110 Atrial fibrillation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000075043 KCNQ2 / O43526 / potassium voltage-gated channel subfamily Q member 2  / complex / reaction
 ENSG00000197694 Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1  / complex / reaction
 ENSG00000163554 SPTA1 / P02549 / spectrin alpha, erythrocytic 1  / complex / reaction
 ENSG00000184156 KCNQ3 / O43525 / potassium voltage-gated channel subfamily Q member 3  / reaction / complex
 ENSG00000105711 SCN1B / Q07699 / sodium voltage-gated channel beta subunit 1  / reaction / complex
 ENSG00000183873 SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5  / reaction / complex
 ENSG00000091129 NRCAM / Q92823 / neuronal cell adhesion molecule  / complex
 ENSG00000163531 NFASC / O94856 / neurofascin  / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / complex / reaction
 ENSG00000075624 ACTB / P60709 / actin beta  / complex / reaction
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / reaction / complex






 

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