MAP3K8 Gene (Protein Coding)

Mitogen-Activated Protein Kinase Kinase Kinase 8

GC10P030458
GIFtS:
47
This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and I... See more...

Aliases for MAP3K8 Gene

Aliases for MAP3K8 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase 8 2 3 4 5
  • Tumor Progression Locus 2 3 4
  • Proto-Oncogene C-Cot 3 4
  • MEKK8 2 3
  • Tpl-2 2 3
  • C-COT 2 3
  • ESTF 3 4
  • COT 3 4
  • EST 2 3
  • Proto-Oncogene Serine/Threoine Protein Kinase 3
  • Augmented In Rheumatoid Arthritis 2 3
  • Cot (Cancer Osaka Thyroid) Oncogene 3
  • Serine/Threonine-Protein Kinase Cot 4
  • Cancer Osaka Thyroid Oncogene 4
  • Ewing Sarcoma Transformant 3
  • EC 2.7.11.25 4
  • MAP3K8 5
  • AURA2 3
  • TPL-2 4
  • TPL2 3

External Ids for MAP3K8 Gene

Previous HGNC Symbols for MAP3K8 Gene

  • COT
  • ESTF

Previous GeneCards Identifiers for MAP3K8 Gene

  • GC10P030873
  • GC10P030726
  • GC10P030762
  • GC10P030722

Summaries for MAP3K8 Gene

Entrez Gene Summary for MAP3K8 Gene

  • This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

GeneCards Summary for MAP3K8 Gene

MAP3K8 (Mitogen-Activated Protein Kinase Kinase Kinase 8) is a Protein Coding gene. Diseases associated with MAP3K8 include Lung Cancer and Skin Lipoma. Among its related pathways are Activated TLR4 signalling and MAPK signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is STK10.

UniProtKB/Swiss-Prot Summary for MAP3K8 Gene

  • Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle. Isoform 1 shows some transforming activity, although it is much weaker than that of the activated oncogenic variant.

Tocris Summary for MAP3K8 Gene

Gene Wiki entry for MAP3K8 Gene

Additional gene information for MAP3K8 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAP3K8 Gene

Genomics for MAP3K8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MAP3K8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAP3K8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAP3K8

Top Transcription factor binding sites by QIAGEN in the MAP3K8 gene promoter:
  • aMEF-2
  • AML1a
  • CREB
  • deltaCREB
  • MEF-2A
  • NF-kappaB1
  • Nkx2-5
  • Nkx5-1
  • Pbx1a

Genomic Locations for MAP3K8 Gene

Latest Assembly
chr10:30,434,021-30,461,833
(GRCh38/hg38)
Size:
27,813 bases
Orientation:
Plus strand

Previous Assembly
chr10:30,722,950-30,750,762
(GRCh37/hg19 by Entrez Gene)
Size:
27,813 bases
Orientation:
Plus strand

chr10:30,722,866-30,750,762
(GRCh37/hg19 by Ensembl)
Size:
27,897 bases
Orientation:
Plus strand

Genomic View for MAP3K8 Gene

Genes around MAP3K8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP3K8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP3K8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAP3K8 Gene

Proteins for MAP3K8 Gene

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  • Protein details for MAP3K8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41279-M3K8_HUMAN
    Recommended name:
    Mitogen-activated protein kinase kinase kinase 8
    Protein Accession:
    P41279
    Secondary Accessions:
    • A8K2Q5
    • D3DRX1
    • Q14275
    • Q5T855
    • Q9HC81

    Protein attributes for MAP3K8 Gene

    Size:
    467 amino acids
    Molecular mass:
    52925 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Forms a ternary complex with NFKB1/p105 and TNIP2. Interacts with NFKB1; the interaction increases the stability of MAP3K8 but inhibits its MEK phosphorylation activity, whereas loss of interaction following LPS stimulation leads to its degradation. Interacts with CD40 and TRAF6; the interaction is required for ERK activation. Interacts with KSR2; the interaction inhibits ERK and NF-kappa-B activation.
    Miscellaneous:
    • Can be converted to an oncogenic protein by proviral activation, leading to a C-terminally truncated protein with transforming activity.

    Three dimensional structures from OCA and Proteopedia for MAP3K8 Gene

    Alternative splice isoforms for MAP3K8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP3K8 Gene

Protein Expression for MAP3K8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAP3K8 Gene

  • Autophosphorylated (PubMed:8226782, PubMed:1833717). Isoform 1 undergoes phosphorylation mainly on Ser residues, and isoform 2 on both Ser and Thr residues (PubMed:8226782). Phosphorylated on Thr-290; the phosphorylation is necessary but not sufficient for full kinase activity in vitro and for the dissociation of isoform 1 from NFKB1, leading to its degradation (PubMed:15466476, PubMed:15699325). Phosphorylated on Ser-400 by IKBKB; the phosphorylation is required for LPS-stimulated activation of the MAPK/ERK pathway in macrophages (PubMed:17472361, PubMed:22988300).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAP3K8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for MAP3K8
  • Santa Cruz Biotechnology (SCBT) Antibodies for MAP3K8

No data available for DME Specific Peptides for MAP3K8 Gene

Domains & Families for MAP3K8 Gene

Gene Families for MAP3K8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MAP3K8 Gene

InterPro:

Suggested Antigen Peptide Sequences for MAP3K8 Gene

GenScript: Design optimal peptide antigens:
  • Augmented in rheumatoid arthritis 2 (A2VED1_HUMAN)
  • Tumor progression locus 2 (M3K8_HUMAN)
  • Mitogen-activated protein kinase kinase kinase 8 (Q5T856_HUMAN)
  • MAP3K8 protein (Q6FG25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41279

UniProtKB/Swiss-Prot:

M3K8_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
genes like me logo Genes that share domains with MAP3K8: view

Function for MAP3K8 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for MAP3K8 Gene

UniProtKB/Swiss-Prot Function:
Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle. Isoform 1 shows some transforming activity, although it is much weaker than that of the activated oncogenic variant.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.25;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.25;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by IL12 in T-lymphocytes. Up-regulated in subcutaneous adipose tissue of obese individuals.
GENATLAS Biochemistry:
mitogen-activated protein kinase kinase kinase 8,with two alternatively spliced transcripts

Enzyme Numbers (IUBMB) for MAP3K8 Gene

Phenotypes From GWAS Catalog for MAP3K8 Gene

Gene Ontology (GO) - Molecular Function for MAP3K8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS 8226782
GO:0004709 MAP kinase kinase kinase activity TAS --
genes like me logo Genes that share ontologies with MAP3K8: view
genes like me logo Genes that share phenotypes with MAP3K8: view

Animal Models for MAP3K8 Gene

MGI Knock Outs for MAP3K8:

Animal Models for research

  • Taconic Biosciences Mouse Models for MAP3K8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAP3K8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAP3K8 Gene

Localization for MAP3K8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP3K8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAP3K8 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAP3K8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAP3K8: view

Pathways & Interactions for MAP3K8 Gene

PathCards logo

SuperPathways for MAP3K8 Gene

genes like me logo Genes that share pathways with MAP3K8: view

Pathways by source for MAP3K8 Gene

2 Sino Biological pathways for MAP3K8 Gene
1 GeneGo (Thomson Reuters) pathway for MAP3K8 Gene
  • Signal transduction_JNK pathway
8 Qiagen pathways for MAP3K8 Gene
  • ERK5 Signaling
  • MAPK Family Pathway
  • MAPK Signaling
  • NFAT and Cardiac Hypertrophy
  • p38 Signaling
1 Cell Signaling Technology pathway for MAP3K8 Gene

SIGNOR curated interactions for MAP3K8 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAP3K8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0000186 activation of MAPKK activity IEA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation TAS,IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with MAP3K8: view

Drugs & Compounds for MAP3K8 Gene

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(5) Drugs for MAP3K8 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
MEK INHIBITOR II Pharma 0
TPL2 KINASE INHIBITOR Pharma 0
genes like me logo Genes that share compounds with MAP3K8: view

Transcripts for MAP3K8 Gene

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mRNA/cDNA for MAP3K8 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAP3K8

Alternative Splicing Database (ASD) splice patterns (SP) for MAP3K8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - - -
SP2:
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - -

Relevant External Links for MAP3K8 Gene

GeneLoc Exon Structure for
MAP3K8

Expression for MAP3K8 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAP3K8 Gene

mRNA expression in normal human tissues for MAP3K8 Gene
mRNA expression by GTEx for MAP3K8 GenemRNA expression by BioGPS for MAP3K8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAP3K8 Gene

This gene is overexpressed in Colon muscle (51.6) and Esophagus (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAP3K8 Gene



Protein tissue co-expression partners for MAP3K8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAP3K8

SOURCE GeneReport for Unigene cluster for MAP3K8 Gene:

Hs.432453

mRNA Expression by UniProt/SwissProt for MAP3K8 Gene:

P41279-M3K8_HUMAN
Tissue specificity: Expressed in several normal tissues and human tumor-derived cell lines.

Evidence on tissue expression from TISSUES for MAP3K8 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Bone(4.2)
  • Skin(3.4)
  • Bone marrow(2.9)
  • Spleen(2.8)
  • Intestine(2.8)
  • Kidney(2.7)
  • Thyroid gland(2.7)
  • Lung(2.6)
  • Lymph node(2.5)
  • Stomach(2.4)
  • Adrenal gland(2.3)
  • Heart(2.3)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP3K8 Gene

Germ Layers:
  • endoderm
Systems:
  • respiratory
Regions:
Thorax:
  • lung
genes like me logo Genes that share expression patterns with MAP3K8: view

Primer products for research

No data available for mRNA differential expression in normal tissues for MAP3K8 Gene

Orthologs for MAP3K8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAP3K8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MAP3K8 29 30
  • 99.14 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MAP3K8 29 30
  • 91.51 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MAP3K8 30
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MAP3K8 29 30
  • 88.72 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Map3k8 29 16 30
  • 87.79 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Map3k8 29
  • 87.65 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MAP3K8 30
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MAP3K8 29 30
  • 76.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MAP3K8 30
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia map3k8 29
  • 69.54 (n)
Zebrafish
(Danio rerio)
 Actinopterygii map3k8 29 30
  • 62.1 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BCK1 30
  • 7 (a)
 OneToMany
Species where no ortholog for MAP3K8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MAP3K8 Gene

ENSEMBL:
Gene Tree for MAP3K8 (if available)
TreeFam:
Gene Tree for MAP3K8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAP3K8: view image
Alliance of Genome Resources:
Additional Orthologs for MAP3K8

Paralogs for MAP3K8 Gene

Paralogs for MAP3K8 Gene

(2) SIMAP similar genes for MAP3K8 Gene using alignment to 5 proteins:

  • M3K8_HUMAN
  • Q5T853_HUMAN
  • Q5T854_HUMAN
  • Q5T857_HUMAN
  • Q6FG25_HUMAN
genes like me logo Genes that share paralogs with MAP3K8: view

Variants for MAP3K8 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAP3K8 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs114464695 Benign: not provided 30,458,158(+) G/A
NM_005204.4(MAP3K8):c.948G>A (p.Thr316=) 		SYNONYMOUS
rs1588800303 Likely Benign: not provided 30,460,794(+) C/T
NM_005204.4(MAP3K8):c.1362C>T (p.Tyr454=) 		SYNONYMOUS
rs752886098 Likely Benign: not provided 30,447,805(+) T/C
NM_005204.4(MAP3K8):c.360T>C (p.Arg120=) 		SYNONYMOUS
rs77186746 Benign: not provided 30,439,097(+) T/C
NM_005204.4(MAP3K8):c.159T>C (p.Ser53=) 		SYNONYMOUS
rs8177034 Benign: not provided 30,460,776(+) C/T
NM_005204.4(MAP3K8):c.1344C>T (p.Leu448=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAP3K8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAP3K8 Gene

Variant ID Type Subtype PubMed ID
esv3303459 CNV mobile element insertion 20981092
esv3377099 CNV insertion 20981092
nsv1127096 CNV deletion 24896259
nsv1129323 OTHER inversion 24896259
nsv1161936 CNV duplication 26073780
nsv831821 CNV loss 17160897
nsv831822 CNV gain 17160897

Variation tolerance for MAP3K8 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAP3K8 Gene

Human Gene Mutation Database (HGMD)
MAP3K8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP3K8
Leiden Open Variation Database (LOVD)
MAP3K8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP3K8 Gene

Disorders for MAP3K8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MAP3K8 Gene - From: OMI, COP, and GCD

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, susceptibility to
skin lipoma
  • cutaneous lipoma
paronychia
  • fungal nail infection
rheumatoid arthritis
  • ra
indolent plasma cell myeloma
  • indolent myeloma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAP3K8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAP3K8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAP3K8 Gene

Publications for MAP3K8 Gene

  1. Structure and transforming potential of the human cot oncogene encoding a putative protein kinase. (PMID: 2072910) Miyoshi J … Kakunaga T (Molecular and cellular biology 1991) 2 3 4 22
  2. ABIN-2 forms a ternary complex with TPL-2 and NF-kappa B1 p105 and is essential for TPL-2 protein stability. (PMID: 15169888) Lang V … Ley SC (Molecular and cellular biology 2004) 3 4 22
  3. COT kinase proto-oncogene expression in T cells: implication of the JNK/SAPK signal transduction pathway in COT promoter activation. (PMID: 10896655) Sánchez-Góngora E … Alemany S (The Journal of biological chemistry 2000) 3 4 22
  4. TPL-2 kinase regulates the proteolysis of the NF-kappaB-inhibitory protein NF-kappaB1 p105. (PMID: 9950430) Belich MP … Ley SC (Nature 1999) 3 4 22
  5. Expression cDNA cloning of a serine kinase transforming gene. (PMID: 8479752) Chan AM … Aaronson SA (Oncogene 1993) 2 3 4

ExternalLinks

View latest publications for MAP3K8 gene in Mastermind

Products for MAP3K8 Gene

Sources for MAP3K8 Gene