Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6885
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase kinase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP3K7
Synonyms (NCBI Gene) Gene synonyms aliases
CSCF, FMD2, MEKK7, TAK1, TGF1a
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSCF, FMD2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q15
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602614 6859 ENSG00000135341
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
Tissue specificity TISSUE SPECIFICITY: Isoform 1A is the most abundant in ovary, skeletal muscle, spleen and blood mononuclear cells. Isoform 1B is highly expressed in brain, kidney and small intestine. Isoform 1C is the major form in prostate. Isoform 1D is the less abunda
Sequence
MSTASAASSSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDV
AIKQIESESERKAFIVELRQLSRVNHPNIVKLYGACLNPVCLVMEYAEGGSLYNVLHGAE
PLPYYTAAHAMSWCLQCSQGVAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTAC
DIQTHMTNNKGSAAWMAPEVFEGSNYSEKCDVFSWGIILWEVITRRKPFDEIGGPAFRIM
WAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEIVKIM
THLMRYFPGADEPLQY
PCQYSDEGQSNSATSTGSFMDIASTNTSNKSDTNMEQVPATNDTIKRLESKLLKNQAKQQ
SESGRLSLGASRGSSVESLPPTSEGKRMSADMSEIEARIAATTAYSKPKRGHRKTASFGN
ILDVPEIVISGNGQPRRRSIQDLTVTGTEPGQVSSRSSSPSVRMITTSGPTSEKPTRSHP
WTPDDSTDTNGSDNSIPMAYLTLDHQLQPLAPCPNSKESMAVFEQHCKMAQEYMKVQTEI
ALLLQRKQELVAELDQDEKDQQNTSRLVQEHKKLLDENKSLSTYYQQCKKQLEVIRSQQQ
KRQGTS
Sequence length 606
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (22 more)
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 term Disease name Evidence References Source
Otitis media Recurrent otitis media ClinVar
Frontometaphyseal Dysplasia frontometaphyseal dysplasia GenCC
Sclerosing Cholangitis Sclerosing Cholangitis GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 26291056, 30656528
Aggressive Periodontitis Associate 28883894
Ameloblastoma Associate 34508164
Anemia Associate 34930825
Antiphospholipid Syndrome Associate 37914735
Arthritis Rheumatoid Associate 26776603, 27847407
Atrial Fibrillation Stimulate 28323847
Bacterial Infections Associate 27771295
Breast Neoplasms Associate 16000313, 19049961, 21834757, 27599572, 28746466
Carcinogenesis Associate 34075691