Gene Gene information from NCBI Gene database.
Entrez ID 4215
Gene name Mitogen-activated protein kinase kinase kinase 3
Gene symbol MAP3K3
Synonyms (NCBI Gene)
CCM5MAPKKK3MEKK3
Chromosome 17
Chromosome location 17q23.3
Summary This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6
miRNA miRNA information provided by mirtarbase database.
551
miRTarBase ID miRNA Experiments Reference
MIRT003519 hsa-miR-145-5p Review 20144549
MIRT021476 hsa-miR-9-5p Microarray 17612493
MIRT021851 hsa-miR-132-3p Microarray 17612493
MIRT023113 hsa-miR-124-3p Microarray 18668037
MIRT041562 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS 9006902
GO:0000166 Function Nucleotide binding IEA
GO:0001568 Process Blood vessel development IEA
GO:0004672 Function Protein kinase activity IDA 15001576
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602539 6855 ENSG00000198909
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99759
Protein name Mitogen-activated protein kinase kinase kinase 3 (EC 2.7.11.25) (MAPK/ERK kinase kinase 3) (MEK kinase 3) (MEKK 3)
Protein function Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators. {ECO:0000269|PubMed:12912994, ECO:0000269|PubMed:14661019, ECO:0000269|PubMed:14743216, ECO:0000269|PubMe
PDB 2C60 , 2JRH , 2O2V , 2PPH , 4Y5O , 4YL6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00564 PB1 44 123 PB1 domain Domain
PF00069 Pkinase 362 622 Protein kinase domain Domain
Sequence
MDEQEALNSIMNDLVALQMNRRHRMPGYETMKNKDTGHSNRQSDVRIKFEHNGERRIIAF
SRPVKYEDVEHKVTTVFGQPLDLHYMNNELSILLKNQDDLDKAIDILDRSSSMKSLRILL
LSQ
DRNHNSSSPHSGVSRQVRIKASQSAGDINTIYQPPEPRSRHLSVSSQNPGRSSPPPG
YVPERQQHIARQGSYTSINSEGEFIPETSEQCMLDPLSSAENSLSGSCQSLDRSADSPSF
RKSRMSRAQSFPDNRQEYSDRETQLYDKGVKGGTYPRRYHVSVHHKDYSDGRRTFPRIRR
HQGNLFTLVPSSRSLSTNGENMGLAVQYLDPRGRLRSADSENALSVQERNVPTKSPSAPI
NWRRGKLLGQGAFGRVYLCYDVDTGRELASKQVQFDPDSPETSKEVSALECEIQLLKNLQ
HERIVQYYGCLRDRAEKTLTIFMEYMPGGSVKDQLKAYGALTESVTRKYTRQILEGMSYL
HSNMIVHRDIKGANILRDSAGNVKLGDFGASKRLQTICMSGTGMRSVTGTPYWMSPEVIS
GEGYGRKADVWSLGCTVVEMLTEKPPWAEYEAMAAIFKIATQPTNPQLPSHISEHGRDFL
RRIFVEARQRPSAEELLTHHFA
QLMY
Sequence length 626
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Neurotrophin signaling pathway
GnRH signaling pathway
Human T-cell leukemia virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
  Interleukin-1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC Likely pathogenic; Pathogenic rs2143631386 RCV004799648
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Verrucous hemangioma Likely pathogenic; Pathogenic rs2143631386 RCV002254484
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 5 ClinVar, HPO
ClinVar, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAP3K3-related disorder Likely benign ClinVar
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26088427
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29662197
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 16622521 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16622521 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 24474452
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22020406, 24122835
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24383423 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26088427
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25388155 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25824786 Stimulate
★☆☆☆☆
Found in Text Mining only