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Aliases for MAP3K7 Gene

Aliases for MAP3K7 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase 7 2 3 5
  • Transforming Growth Factor-Beta-Activated Kinase 1 3 4
  • TGF-Beta Activated Kinase 1 2 3
  • EC 2.7.11.25 4 61
  • TAK1 3 4
  • TGF-Beta-Activated Kinase 1 4
  • EC 2.7.11 61
  • MEKK7 3
  • TGF1a 3
  • CSCF 3
  • FMD2 3

External Ids for MAP3K7 Gene

Previous HGNC Symbols for MAP3K7 Gene

  • TAK1

Previous GeneCards Identifiers for MAP3K7 Gene

  • GC06M091171
  • GC06M091220
  • GC06M091282
  • GC06M088444

Summaries for MAP3K7 Gene

Entrez Gene Summary for MAP3K7 Gene

  • 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 transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAP3K7 Gene

MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7) is a Protein Coding gene. Diseases associated with MAP3K7 include Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Of Carpal And Tarsal Bones and Frontometaphyseal Dysplasia 2. Among its related pathways are Activated TLR4 signalling and Toll Comparative Pathway. 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 MAP3K9.

UniProtKB/Swiss-Prot for MAP3K7 Gene

  • Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity.

Tocris Summary for MAP3K7 Gene

Gene Wiki entry for MAP3K7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP3K7 Gene

Genomics for MAP3K7 Gene

Regulatory Elements for MAP3K7 Gene

Enhancers for MAP3K7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F090585 1.1 ENCODE 9.1 +0.5 481 2.5 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF207 KLF13 SP3 NFYC MAP3K7 GC06P090557
GH06F090610 1.1 FANTOM5 Ensembl ENCODE 7.8 -23.8 -23806 1.8 KLF17 ZNF2 GLIS2 ZNF366 EGR2 SP3 ZEB2 ZNF843 PRDM1 ZBTB26 MAP3K7 LOC105377893
GH06F090536 1 Ensembl ENCODE 7.2 +49.7 49665 2.9 HDAC1 PKNOX1 ATF1 TBL1XR1 INSM2 FEZF1 ZNF2 ZNF366 SCRT2 OVOL3 MAP3K7 GC06P090557 GC06P090502
GH06F090946 0.4 FANTOM5 6.4 -358.9 -358852 0.0 ATF2 MAP3K7 GC06M091023 LOC105377893
GH06F090502 0.8 Ensembl ENCODE 6.3 +84.3 84336 1.1 PKNOX1 ATF1 ARNT MLX ARID4B FEZF1 YY1 GATA2 KAT8 SMARCA4 ENSG00000232532 ENSG00000226455 MAP3K7 GC06P090502 GC06P090557
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAP3K7 on UCSC Golden Path with GeneCards custom track

Promoters for MAP3K7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001222349 901 3600 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF207 KLF13 SP3

Transcription factor binding sites by QIAGEN in the MAP3K7 gene promoter:

Genomic Location for MAP3K7 Gene

Chromosome:
6
Start:
90,513,573 bp from pter
End:
90,587,301 bp from pter
Size:
73,729 bases
Orientation:
Minus strand

Genomic View for MAP3K7 Gene

Genes around MAP3K7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP3K7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP3K7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP3K7 Gene

Proteins for MAP3K7 Gene

  • Protein details for MAP3K7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43318-M3K7_HUMAN
    Recommended name:
    Mitogen-activated protein kinase kinase kinase 7
    Protein Accession:
    O43318
    Secondary Accessions:
    • B2RE27
    • E1P523
    • O43317
    • O43319
    • Q5TDN2
    • Q5TDN3
    • Q5TDT7
    • Q9NTR3
    • Q9NZ70

    Protein attributes for MAP3K7 Gene

    Size:
    606 amino acids
    Molecular mass:
    67196 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds both upstream activators and downstream substrates in multimolecular complexes. Interacts with TAB1/MAP3K7IP1, TAB2/MAP3K7IP2 and TAB3/MAP3K7IP3. Identified in the TRIKA2 complex composed of MAP3K7/TAK1, TAB1/MAP3K7IP1 and TAB2/MAP3K7IP2. Interacts with PPM1L and PPM1B/PP2CB. Interaction with PP2A and PPP6C leads to its repressed activity. Interacts with TRAF6 and TAB1/MAP3K7IP1; during IL-1 signaling. Interacts with TAOK1 and TAOK2; interaction with TAOK2 interferes with MAP3K7 interaction with IKKA, thus preventing NF-kappa-B activation. Interacts with WDR34 (via WD domains). Interacts with CYLD and RBCK1. Interacts with TGFBR1; induces MAP3K7/TAK1 activation by TRAF6. Interacts with MAPK8IP1 and SMAD6 (By similarity). Interacts with isoform 1 of VRK2. Interacts with DAB2; the interaction is induced by TGF-beta stimulation and may mediate TGF-beta stimulated JNK activation. Interacts with TRIM5.

    Three dimensional structures from OCA and Proteopedia for MAP3K7 Gene

    Alternative splice isoforms for MAP3K7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP3K7 Gene

Selected DME Specific Peptides for MAP3K7 Gene

O43318:
  • GSAAWMAPEVFEGS
  • VGRGAFG
  • GNGQPRRRSIQDLTVTGT
  • YSEKCDV
  • LKICDFG
  • NHPNIVKL

Post-translational modifications for MAP3K7 Gene

  • Association with TAB1/MAP3K7IP1 promotes autophosphorylation at Ser-192 and subsequent activation. Association with TAB2/MAP3K7IP2, itself associated with free unanchored Lys-63 polyubiquitin chain, promotes autophosphorylation and subsequent activation of MAP3K7. Dephosphorylation at Ser-192 by PPM1B/PP2CB and at Thr-187 by PP2A and PPP6C leads to inactivation.
  • Lys-48-linked polyubiquitination at Lys-72 is induced by TNFalpha, and leads to proteasomal degradation. Requires Lys-63-linked polyubiquitination for autophosphorylation and subsequent activation. Lys-63-linked ubiquitination does not lead to proteasomal degradation. Deubiquitinated by CYLD, a protease that selectively cleaves Lys-63-linked ubiquitin chains. Deubiquitinated by Y.enterocolitica YopP.
  • Ubiquitination at Lys 72 and Lys 547
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAP3K7 (TAK1)

Domains & Families for MAP3K7 Gene

Suggested Antigen Peptide Sequences for MAP3K7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43318

UniProtKB/Swiss-Prot:

M3K7_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
Domain:
  • Contains 1 protein kinase domain.
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 MAP3K7: view

Function for MAP3K7 Gene

Molecular function for MAP3K7 Gene

GENATLAS Biochemistry:
mitogen activated protein (MAP/ERK) kinase kinase kinase 7,widely expressed,activated by MAP4K4 (see symbol) in JNK signaling pathway,involved in the BMP signaling through binding with API3 (XIAP)3,also associating with TRAF6 during IL-1 signaling and activating NFKB
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by proinflammatory cytokines and in response to physical and chemical stresses, including osmotic stress, oxidative stress, arsenic and ultraviolet light irradiation. Activated by Lys-63-linked polyubiquitination and by autophosphorylation. Association with TAB1/MAP3K7IP1 and TAB2/MAP3K7IP2 promotes activation through autophosphorylation, whereas PPM1B/PP2CB, PP2A and PPP6C dephosphorylation leads to inactivation.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K1/MEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs, c-jun N-terminal kinases (JNKs) and I-kappa-B kinase complex (IKK). Both p38 MAPK and JNK pathways control the transcription factors activator protein-1 (AP-1), while nuclear factor-kappa B is activated by IKK. MAP3K7 activates also IKBKB and MAPK8/JNK1 in response to TRAF6 signaling and mediates BMP2-induced apoptosis. In osmotic stress signaling, plays a major role in the activation of MAPK8/JNK1, but not that of NF-kappa-B. Promotes TRIM5 capsid-specific restriction activity.

Enzyme Numbers (IUBMB) for MAP3K7 Gene

Gene Ontology (GO) - Molecular Function for MAP3K7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004672 protein kinase activity IEA,IDA 10094049
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0004709 MAP kinase kinase kinase activity IEA,IDA 11460167
GO:0005515 protein binding IPI 10094049
genes like me logo Genes that share ontologies with MAP3K7: view
genes like me logo Genes that share phenotypes with MAP3K7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MAP3K7

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAP3K7 Gene

Localization for MAP3K7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP3K7 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Although the majority of MAP3K7/TAK1 is found in the cytosol, when complexed with TAB1/MAP3K7IP1 and TAB2/MAP3K7IP2, it is also localized at the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAP3K7 Gene COMPARTMENTS Subcellular localization image for MAP3K7 gene
Compartment Confidence
cytosol 5
nucleus 5
endosome 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for MAP3K7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex IDA 18838386
GO:0005737 cytoplasm IEA,IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MAP3K7: view

Pathways & Interactions for MAP3K7 Gene

SuperPathways for MAP3K7 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll-Like receptor Signaling Pathways
3 B cell receptor signaling pathway (KEGG)
4 RANK Signaling in Osteoclasts
5 Toll Comparative Pathway
genes like me logo Genes that share pathways with MAP3K7: view

Pathways by source for MAP3K7 Gene

SIGNOR curated interactions for MAP3K7 Gene

Gene Ontology (GO) - Biological Process for MAP3K7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity IDA 8663074
GO:0000187 activation of MAPK activity IDA,TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002726 positive regulation of T cell cytokine production IMP 15125833
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MAP3K7: view

Drugs & Compounds for MAP3K7 Gene

(12) Drugs for MAP3K7 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
RGB-286638 Pharma CDKs inhibitor 0
Magnesium Nutra 0

(5) Additional Compounds for MAP3K7 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MAP3K7: view

Transcripts for MAP3K7 Gene

Unigene Clusters for MAP3K7 Gene

Mitogen-activated protein kinase kinase kinase 7:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP3K7 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ·
SP1: - -
SP2: - - -
SP3: -
SP4: -
SP5: -
SP6:
SP7: - - - - - -

ExUns: 19c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for MAP3K7 Gene

GeneLoc Exon Structure for
MAP3K7
ECgene alternative splicing isoforms for
MAP3K7

Expression for MAP3K7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAP3K7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAP3K7 Gene

This gene is overexpressed in Testis (13.4) and Peripheral blood mononuclear cells (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAP3K7 Gene



Protein tissue co-expression partners for MAP3K7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAP3K7 Gene:

MAP3K7

SOURCE GeneReport for Unigene cluster for MAP3K7 Gene:

Hs.594838

mRNA Expression by UniProt/SwissProt for MAP3K7 Gene:

O43318-M3K7_HUMAN
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 abundant form.
genes like me logo Genes that share expression patterns with MAP3K7: view

Primer Products

No data available for mRNA differential expression in normal tissues for MAP3K7 Gene

Orthologs for MAP3K7 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAP3K7 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia MAP3K7 35
  • 100 (a)
OneToOne
LOC102156745 34
  • 97.08 (n)
chimpanzee
(Pan troglodytes)
Mammalia MAP3K7 34 35
  • 99.61 (n)
mouse
(Mus musculus)
Mammalia Map3k7 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP3K7 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 96 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAP3K7 34 35
  • 94.8 (n)
rat
(Rattus norvegicus)
Mammalia Map3k7 34
  • 91.86 (n)
chicken
(Gallus gallus)
Aves MAP3K7 34 35
  • 85.17 (n)
lizard
(Anolis carolinensis)
Reptilia MAP3K7 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia map3k7 34
  • 83.15 (n)
Str.3144 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.274 34
zebrafish
(Danio rerio)
Actinopterygii map3k7 35
  • 76 (a)
OneToOne
Dr.17131 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12347 34
fruit fly
(Drosophila melanogaster)
Insecta Tak1 36 35
  • 54 (a)
Takl2 36 35
  • 40 (a)
Takl1 36 35
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea mom-4 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
Species where no ortholog for MAP3K7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for MAP3K7 Gene

ENSEMBL:
Gene Tree for MAP3K7 (if available)
TreeFam:
Gene Tree for MAP3K7 (if available)

Paralogs for MAP3K7 Gene

(1) SIMAP similar genes for MAP3K7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MAP3K7: view

Variants for MAP3K7 Gene

Sequence variations from dbSNP and Humsavar for MAP3K7 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_077342 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
VAR_077343 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
VAR_077344 Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800]
VAR_077345 Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137]
VAR_077346 Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800]

Structural Variations from Database of Genomic Variants (DGV) for MAP3K7 Gene

Variant ID Type Subtype PubMed ID
esv1333350 CNV deletion 17803354
esv1987764 CNV deletion 18987734
esv2449643 CNV deletion 19546169
esv2732413 CNV deletion 23290073
esv3540130 CNV deletion 23714750
esv3668 CNV loss 18987735
esv5848 CNV loss 19470904
esv992475 CNV deletion 20482838
nsv1073998 CNV deletion 25765185
nsv1114854 CNV deletion 24896259
nsv523939 CNV gain 19592680
nsv956539 CNV deletion 24416366

Variation tolerance for MAP3K7 Gene

Residual Variation Intolerance Score: 9.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAP3K7 Gene

Human Gene Mutation Database (HGMD)
MAP3K7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP3K7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP3K7 Gene

Disorders for MAP3K7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAP3K7 Gene - From: ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
  • cardiospondylocarpofacial syndrome
frontometaphyseal dysplasia 2
  • fmd2
frontometaphyseal dysplasia
  • muscular dystrophy, facioscapulohumeral
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAP3K7

Genetic Association Database (GAD)
MAP3K7
Human Genome Epidemiology (HuGE) Navigator
MAP3K7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAP3K7
genes like me logo Genes that share disorders with MAP3K7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAP3K7 Gene

Publications for MAP3K7 Gene

  1. Direct activation of protein kinases by unanchored polyubiquitin chains. (PMID: 19675569) Xia Z.-P. … Chen Z.J. (Nature 2009) 3 4 22 64
  2. The type I TGF-beta receptor engages TRAF6 to activate TAK1 in a receptor kinase-independent manner. (PMID: 18758450) Sorrentino A. … Landstrom M. (Nat. Cell Biol. 2008) 3 4 22 64
  3. The Yersinia enterocolitica effector YopP inhibits host cell signalling by inactivating the protein kinase TAK1 in the IL-1 signalling pathway. (PMID: 16845370) Thiefes A. … Kracht M. (EMBO Rep. 2006) 3 4 22 64
  4. Osmotic stress activates the TAK1-JNK pathway while blocking TAK1- mediated NF-kappaB activation: TAO2 regulates TAK1 pathways. (PMID: 16893890) Huangfu W.C. … Ninomiya-Tsuji J. (J. Biol. Chem. 2006) 3 4 22 64
  5. Protein phosphatase 6 down-regulates TAK1 kinase activation in the IL-1 signaling pathway. (PMID: 17079228) Kajino T. … Ninomiya-Tsuji J. (J. Biol. Chem. 2006) 3 4 22 64

Products for MAP3K7 Gene

Sources for MAP3K7 Gene

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