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MAP3K7 (mitogen-activated protein kinase kinase kinase 7)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6885
Gene nameGene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase kinase 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MAP3K7
SynonymsGene synonyms aliases
CSCF, FMD2, MEKK7, TAK1, TGF1a
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q15
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcripti
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs886039230 G>A,C,T Pathogenic Coding sequence variant, intron variant, missense variant
rs886039231 C>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs886039232 A>T Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs886039233 C>G Pathogenic Coding sequence variant, missense variant
rs886039234 TCTTCC>- Pathogenic 5 prime UTR variant, inframe deletion, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005509 hsa-miR-10a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20624982
MIRT025316 hsa-miR-34a-5p Sequencing 20371350
MIRT005509 hsa-miR-10a-5p Reporter assay;Other 20624982
MIRT027011 hsa-miR-103a-3p Sequencing 20371350
MIRT051235 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000186 Process Activation of MAPKK activity IDA 8663074, 9079627
GO:0000187 Process Activation of MAPK activity IDA 9079627
GO:0000187 Process Activation of MAPK activity TAS
GO:0000287 Function Magnesium ion binding IEA
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O43318
Protein name Mitogen-activated protein kinase kinase kinase 7 (EC 2.7.11.25) (Transforming growth factor-beta-activated kinase 1) (TGF-beta-activated kinase 1)
Protein function Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway (PubMed:10094049, PubMed:11460167, PubMed:12589052, PubMed:16845370, PubMed:16893890, PubMed:21512573, PubMed:8663074, PubMed:9079627). Pl
PDB 2EVA , 2YIY , 4GS6 , 4L3P , 4L52 , 4L53 , 4O91 , 5E7R , 5GJD , 5GJF , 5GJG , 5J7S , 5J8I , 5J9L , 5JGA , 5JGB , 5JGD , 5JH6 , 5JK3 , 5V5N , 7NTH , 7NTI , 8GW3 , 9FPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr
36 284
Protein tyrosine and serine/threonine kinase
Domain
Sequence
MSTASAASSSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDV
AIKQIESESERKAFIVELRQLSRVNHPNIVKLYGACLNPVCLVMEYAEGGSLYNVLHGAE
PLPYYTAAHAMSWCLQCSQGVAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTAC
DIQTHMTNNKGSAAWMAPEVFEGSNYSEKCDVFSWGIILWEVITRRKPFDEIGGPAFRIM
WAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEIVKIM
THLMRYFPGADEPLQY
PCQYSDEGQSNSATSTGSFMDIASTNTSNKSDTNMEQVPATNDTIKRLESKLLKNQAKQQ
SESGRLSLGASRGSSVESLPPTSEGKRMSADMSEIEARIAATTAYSKPKRGHRKTASFGN
ILDVPEIVISGNGQPRRRSIQDLTVTGTEPGQVSSRSSSPSVRMITTSGPTSEKPTRSHP
WTPDDSTDTNGSDNSIPMAYLTLDHQLQPLAPCPNSKESMAVFEQHCKMAQEYMKVQTEI
ALLLQRKQELVAELDQDEKDQQNTSRLVQEHKKLLDENKSLSTYYQQCKKQLEVIRSQQQ
KRQGTS
Sequence length 606
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  MAPK signaling pathway
NF-kappa B signaling pathway
Autophagy - animal
AMPK signaling pathway
Wnt signaling pathway
Osteoclast differentiation
Adherens junction
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
IL-17 signaling pathway
T cell receptor signaling pathway
TNF signaling pathway
Alcoholic liver disease
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Leishmaniasis
Toxoplasmosis
Hepatitis B
Measles
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  NOD1/2 Signaling Pathway
Downstream TCR signaling
FCERI mediated NF-kB activation
Ca2+ pathway
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
TNFR1-induced NFkappaB signaling pathway
CLEC7A (Dectin-1) signaling
Ub-specific processing proteases
TICAM1,TRAF6-dependent induction of TAK1 complex
Interleukin-1 signaling
IRAK2 mediated activation of TAK1 complex
TRAF6-mediated induction of TAK1 complex within TLR4 complex
Alpha-protein kinase 1 signaling pathway
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome rs886039234, rs886039235, rs886039236, rs886039237, rs1582233787
Cholestasis Cholestasis, Extrahepatic rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 28789951
Unknown
Disease name Disease term dbSNP ID References
Carpal synostosis Carpal synostosis
Clinodactyly Clinodactyly of fingers
Congenital camptodactyly Congenital Camptodactyly
Congenital clubfoot Congenital clubfoot

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