ENSG00000151150


Homo sapiens

Features
Gene ID: ENSG00000151150
  
Biological name :ANK3
  
Synonyms : ANK3 / ankyrin 3 / Q12955
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q21.2
Gene start: 60026298
Gene end: 60733490
  
Corresponding Affymetrix probe sets: 206385_s_at (Human Genome U133 Plus 2.0 Array)   207950_s_at (Human Genome U133 Plus 2.0 Array)   209442_x_at (Human Genome U133 Plus 2.0 Array)   238786_at (Human Genome U133 Plus 2.0 Array)   239726_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000425236
Ensembl peptide - ENSP00000423968
Ensembl peptide - ENSP00000426011
Ensembl peptide - ENSP00000483483
Ensembl peptide - ENSP00000483244
Ensembl peptide - ENSP00000482401
Ensembl peptide - ENSP00000482307
Ensembl peptide - ENSP00000481611
Ensembl peptide - ENSP00000480745
Ensembl peptide - ENSP00000480249
Ensembl peptide - ENSP00000479337
Ensembl peptide - ENSP00000478037
Ensembl peptide - ENSP00000477827
Ensembl peptide - ENSP00000477814
Ensembl peptide - ENSP00000427121
Ensembl peptide - ENSP00000426690
Ensembl peptide - ENSP00000426582
Ensembl peptide - ENSP00000426258
Ensembl peptide - ENSP00000280772
Ensembl peptide - ENSP00000347436
Ensembl peptide - ENSP00000362921
Ensembl peptide - ENSP00000362926
Ensembl peptide - ENSP00000362933
Ensembl peptide - ENSP00000422506
Ensembl peptide - ENSP00000422657
Ensembl peptide - ENSP00000423057
NCBI entrez gene - 288     See in Manteia.
OMIM - 600465
RefSeq - XM_017016150
RefSeq - XM_017016122
RefSeq - XM_017016123
RefSeq - XM_017016124
RefSeq - XM_017016125
RefSeq - XM_017016126
RefSeq - XM_017016127
RefSeq - XM_017016128
RefSeq - XM_017016129
RefSeq - XM_017016130
RefSeq - XM_017016131
RefSeq - XM_017016132
RefSeq - XM_017016133
RefSeq - XM_017016134
RefSeq - XM_017016135
RefSeq - XM_017016136
RefSeq - XM_017016137
RefSeq - XM_017016138
RefSeq - XM_017016139
RefSeq - XM_017016140
RefSeq - XM_017016141
RefSeq - XM_017016142
RefSeq - XM_017016143
RefSeq - XM_017016144
RefSeq - XM_017016145
RefSeq - XM_017016146
RefSeq - XM_017016147
RefSeq - XM_017016148
RefSeq - XM_017016149
RefSeq - NM_001149
RefSeq - NM_001204403
RefSeq - NM_001204404
RefSeq - NM_001320874
RefSeq - NM_020987
RefSeq - XM_005269715
RefSeq - XM_006717796
RefSeq - XM_006717802
RefSeq - XM_011539708
RefSeq - XM_011539709
RefSeq - XM_017016110
RefSeq - XM_017016111
RefSeq - XM_017016112
RefSeq - XM_017016113
RefSeq - XM_017016114
RefSeq - XM_017016115
RefSeq - XM_017016116
RefSeq - XM_017016117
RefSeq - XM_017016118
RefSeq - XM_017016119
RefSeq - XM_017016120
RefSeq - XM_017016121
RefSeq Peptide - NP_066267
RefSeq Peptide - NP_001191333
RefSeq Peptide - NP_001307803
RefSeq Peptide - NP_001140
RefSeq Peptide - NP_001191332
swissprot - A0A087X0L3
swissprot - A0A087X0B4
swissprot - A0A087WZ65
swissprot - A0A087WZ26
swissprot - A0A087WY90
swissprot - A0A087WX55
swissprot - A0A087WWI5
swissprot - A0A087WVC2
swissprot - A0A087WTP5
swissprot - D6RHY3
swissprot - H0Y3A4
swissprot - H0Y8Z4
swissprot - H0Y951
swissprot - H0Y9E9
swissprot - H0YA66
swissprot - H0YAH5
swissprot - Q12955
swissprot - A0A087WTE8
swissprot - A0A087WTF3
swissprot - D6RFK6
swissprot - D6RF31
swissprot - D6RBY7
swissprot - B1AQT1
Ensembl - ENSG00000151150
  
Related genetic diseases (OMIM): 615493 - ?Mental retardation, autosomal recessive, 37, 615493
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
 ank3aENSDARG00000061736Danio rerio
 ank3bENSDARG00000077582Danio rerio
 ANK3ENSGALG00000003135Gallus gallus
 Ank3ENSMUSG00000069601Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ANK2 / Q01484 / ankyrin 2ENSG0000014536239
ANK1 / P16157 / ankyrin 1ENSG0000002953422
TNKS2 / Q9H2K2 / tankyrase 2ENSG000001078548
TNKS / O95271 / tankyraseENSG000001732738
O15084 / ANKRD28 / ankyrin repeat domain 28ENSG000002065607
Q8NB46 / ANKRD52 / ankyrin repeat domain 52ENSG000001396456
Q8N8A2 / ANKRD44 / ankyrin repeat domain 44ENSG000000654136
INVS / Q9Y283 / inversinENSG000001195096
E5RJM6 / ANKRD65 / ankyrin repeat domain 65ENSG000002350983


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:0000281 mitotic cytokinesis IMP
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007009 plasma membrane organization IMP
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007409 axonogenesis ISS
 biological_processGO:0007528 neuromuscular junction development ISS
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010650 positive regulation of cell communication by electrical coupling ISS
 biological_processGO:0010765 positive regulation of sodium ion transport ISS
 biological_processGO:0010960 magnesium ion homeostasis ISS
 biological_processGO:0019228 neuronal action potential ISS
 biological_processGO:0034112 positive regulation of homotypic cell-cell adhesion ISS
 biological_processGO:0043001 Golgi to plasma membrane protein transport IMP
 biological_processGO:0043266 regulation of potassium ion transport ISS
 biological_processGO:0045184 establishment of protein localization IMP
 biological_processGO:0045838 positive regulation of membrane potential ISS
 biological_processGO:0071286 cellular response to magnesium ion ISS
 biological_processGO:0071709 membrane assembly ISS
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:0072660 maintenance of protein location in plasma membrane IGI
 biological_processGO:0090314 positive regulation of protein targeting to membrane ISS
 biological_processGO:1900827 positive regulation of membrane depolarization during cardiac muscle cell action potential ISS
 biological_processGO:1902260 negative regulation of delayed rectifier potassium channel activity ISS
 biological_processGO:2000651 positive regulation of sodium ion transmembrane transporter activity ISS
 biological_processGO:2001259 positive regulation of cation channel activity ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005794 Golgi apparatus TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005923 bicellular tight junction IDA
 cellular_componentGO:0009925 basal plasma membrane IDA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0014704 intercalated disc ISS
 cellular_componentGO:0014731 spectrin-associated cytoskeleton ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IDA
 cellular_componentGO:0016328 lateral plasma membrane IDA
 cellular_componentGO:0016529 sarcoplasmic reticulum ISS
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030315 T-tubule ISS
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0031594 neuromuscular junction ISS
 cellular_componentGO:0033268 node of Ranvier ISS
 cellular_componentGO:0042383 sarcolemma IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043034 costamere TAS
 cellular_componentGO:0043194 axon initial segment IDA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane ISS
 molecular_functionGO:0005200 structural constituent of cytoskeleton IMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding ISS
 molecular_functionGO:0030507 spectrin binding IBA
 molecular_functionGO:0030674 protein binding, bridging ISS
 molecular_functionGO:0044325 ion channel binding ISS
 molecular_functionGO:0045296 cadherin 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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000752 Hyperactivity 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002342 Mental retardation, moderate "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
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 HP:0003763 Bruxism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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