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Gene Gene information from NCBI Gene database.
Entrez ID 8491
Gene name Mitogen-activated protein kinase kinase kinase kinase 3
Gene symbol MAP4K3
Synonyms (NCBI Gene)
GLKMAPKKKK3MEKKK 3MEKKK3RAB8IPL1
Chromosome 2
Chromosome location 2p22.1
Summary This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observ
miRNA miRNA information provided by mirtarbase database.
324 Show/Hide all (324)
miRTarBase ID miRNA Experiments Reference
MIRT029966 hsa-miR-26b-5p Microarray 19088304
MIRT054069 hsa-let-7c-5p H157 23981581
MIRT054069 hsa-let-7c-5p H157 23981581
MIRT054069 hsa-let-7c-5p Luciferase reporter assayqRT-PCRWestern blot 28099144
MIRT054069 hsa-let-7c-5p Luciferase reporter assayqRT-PCRWestern blot 28099144
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 9275185
GO:0004674 Function Protein serine/threonine kinase activity IDA 9275185
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604921 6865 ENSG00000011566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVH8
Protein name Mitogen-activated protein kinase kinase kinase kinase 3 (EC 2.7.11.1) (Germinal center kinase-related protein kinase) (GLK) (MAPK/ERK kinase kinase kinase 3) (MEK kinase kinase 3) (MEKKK 3)
Protein function Serine/threonine kinase that plays a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway (PubMed:9275185). Activator of the Hippo signaling pathway which plays a pivotal role in organ size control
PDB 5J5T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00780 CNH 566 → 864 CNH domain Family
PF00069 Pkinase 16 → 273 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in all tissues examined, with high levels in heart, brain, placenta, skeletal muscle, kidney and pancreas and lower levels in lung and liver. {ECO:0000269|PubMed:9275185}.
Sequence
Sequence length 894
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
MAPK signaling pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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 Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ependymoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23991104
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23817999, 26791862, 30214937, 31640697
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30221690
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26336805 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27343552, 28099144, 31433582, 33204699 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31431460, 31640697
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Hyperinsulinism Hyperinsulinemic hypoglycemia BEFREE 19146401
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 23817999
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 34190178 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 33049985 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only