ENSG00000091436


Homo sapiens

Features
Gene ID: ENSG00000091436
  
Biological name :MAP3K20
  
Synonyms : MAP3K20 / mitogen-activated protein kinase kinase kinase 20 / Q9NYL2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.1
Gene start: 173075435
Gene end: 173268010
  
Corresponding Affymetrix probe sets: 1555259_at (Human Genome U133 Plus 2.0 Array)   218833_at (Human Genome U133 Plus 2.0 Array)   222757_s_at (Human Genome U133 Plus 2.0 Array)   223519_at (Human Genome U133 Plus 2.0 Array)   225662_at (Human Genome U133 Plus 2.0 Array)   225665_at (Human Genome U133 Plus 2.0 Array)   238613_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364361
Ensembl peptide - ENSP00000439414
Ensembl peptide - ENSP00000411923
Ensembl peptide - ENSP00000387259
Ensembl peptide - ENSP00000340257
NCBI entrez gene - 51776     See in Manteia.
OMIM - 609479
RefSeq - XM_017004324
RefSeq - XM_005246640
RefSeq - NM_016653
RefSeq - NM_133646
RefSeq - XM_017004323
RefSeq Peptide - NP_057737
RefSeq Peptide - NP_598407
swissprot - Q9NYL2
swissprot - D4Q8H0
swissprot - C9J3F7
Ensembl - ENSG00000091436
  
Related genetic diseases (OMIM): 616890 - Split-foot malformation with mesoaxial polydactyly, 616890
  617760 - Centronuclear myopathy 6 with fiber-type disproportion, 617760
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
 zakENSDARG00000006978Danio rerio
 zakENSDARG00000044615Danio rerio
 MAP3K20ENSGALG00000035237Gallus gallus
 Q9ESL4ENSMUSG00000004085Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAP3K9 / P80192 / mitogen-activated protein kinase kinase kinase 9ENSG0000000643226
Q5TCX8 / MAP3K21 / mitogen-activated protein kinase kinase kinase 21ENSG0000014367425
Q02779 / MAP3K10 / mitogen-activated protein kinase kinase kinase 10ENSG0000013075825
Q16584 / MAP3K11 / mitogen-activated protein kinase kinase kinase 11ENSG0000017332721
O43283 / MAP3K13 / mitogen-activated protein kinase kinase kinase 13ENSG0000007380319
Q12852 / MAP3K12 / mitogen-activated protein kinase kinase kinase 12ENSG0000013962518
MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7ENSG0000013534116
FPGT-TNNI3K / FPGT-TNNI3K readthroughENSG0000025903013
Q59H18 / TNNI3K / TNNI3 interacting kinaseENSG0000011678313
ILK / Q13418 / integrin linked kinaseENSG000001663339
MOS / P00540 / MOS proto-oncogene, serine/threonine kinaseENSG000001726809


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001660  Sterile alpha motif domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR032938  Mitogen-activated protein kinase kinase kinase MLT


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000077 DNA damage checkpoint IMP
 biological_processGO:0000165 MAPK cascade IEA
 biological_processGO:0000186 activation of MAPKK activity TAS
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IMP
 biological_processGO:0007093 mitotic cell cycle checkpoint IDA
 biological_processGO:0007257 activation of JUN kinase activity IDA
 biological_processGO:0008219 cell death NAS
 biological_processGO:0008283 cell proliferation NAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030154 cell differentiation NAS
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0051403 stress-activated MAPK cascade IDA
 biological_processGO:0060173 limb development IMP
 biological_processGO:0071480 cellular response to gamma radiation IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004709 MAP kinase kinase kinase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


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:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001315 Reduced reflexes 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003198 Myopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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