Gene Gene information from NCBI Gene database.
Entrez ID 6885
Gene name Mitogen-activated protein kinase kinase kinase 7
Gene symbol MAP3K7
Synonyms (NCBI Gene)
CSCFFMD2MEKK7TAK1TGF1a
Chromosome 6
Chromosome location 6q15
Summary 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.
13
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.
375
miRTarBase ID miRNA Experiments Reference
MIRT005509 hsa-miR-10a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
117
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602614 6859 ENSG00000135341
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
51
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiospondylocarpofacial syndrome Likely pathogenic; Pathogenic rs2127974446, rs2127975274, rs886039234, rs886039235, rs886039236, rs886039237, rs1582233787, rs1776199533 RCV001527388
RCV001836671
RCV000254560
RCV000254563
RCV000254567
RCV000254561
RCV000845245
RCV001251209
Frontometaphyseal dysplasia 2 Likely pathogenic; Pathogenic rs2127974446, rs886039230, rs886039231, rs886039232, rs886039233, rs1180249151 RCV001527388
RCV000254565
RCV000254559
RCV000254562
RCV000254566
RCV000985236
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs45625637, rs372044519, rs141142155 RCV005914235
RCV005926370
RCV005904849
Cervical cancer Benign rs200692753, rs141142155 RCV005870080
RCV005904851
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs45625637 RCV005914242
Clear cell carcinoma of kidney Uncertain significance rs372044519 RCV005926371
Associations from Text MiningDisease 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