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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiospondylocarpofacial syndrome Likely pathogenic; Pathogenic rs2127974446, rs2127975274, rs886039234, rs886039235, rs886039236, rs886039237, rs1582233787, rs1776199533 RCV001527388
RCV001836671
RCV000254560
RCV000254563
RCV000254567
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontometaphyseal dysplasia 2 Likely pathogenic; Pathogenic rs2127974446, rs886039230, rs886039231, rs886039232, rs886039233, rs1180249151 RCV001527388
RCV000254565
RCV000254559
RCV000254562
RCV000254566
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29914415, 31521893
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 25287709
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 26291056
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 30907011
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 22649101
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 34508164 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30146158
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 34930825 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 28039186
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 37914735 Associate
★☆☆☆☆
Found in Text Mining only