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
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:0000165 Process MAPK cascade IDA 8663074, 11865055
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001223 Function Transcription coactivator binding IEA
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiospondylocarpofacial Syndrome cardiospondylocarpofacial syndrome rs1582233787, rs886039234, rs886039235, rs886039236, rs886039237 N/A
Frontometaphyseal Dysplasia frontometaphyseal dysplasia 2 rs1180249151, rs886039230, rs886039231, rs886039232, rs886039233 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Astrocytoma Pilocytic astrocytoma N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) N/A N/A GWAS
Fibromuscular Dysplasia Fibromuscular dysplasia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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