MAP3K20 Gene (Protein Coding)

Mitogen-Activated Protein Kinase Kinase Kinase 20

GC02P173076
GIFtS:
40
This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity ... See more...

Aliases for MAP3K20 Gene

Aliases for MAP3K20 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase 20 2 3 4 5
  • Mitogen-Activated Protein Kinase Kinase Kinase MLT 3 4
  • MLK-Like Mitogen-Activated Protein Triple Kinase 3 4
  • Human Cervical Cancer Suppressor Gene 4 Protein 3 4
  • Mixed Lineage Kinase 7 2 3
  • HCCS-4 3 4
  • MLTK 3 4
  • MRK 3 4
  • ZAK 3 4
  • ZAK1 Homolog, Leucine Zipper And Sterile-Alpha Motif Kinase (Dictyostelium) 2
  • Mixed Lineage Kinase With A Leucine Zipper And A Sterile Alpha Motif 3
  • Sterile Alpha Motif- And Leucine Zipper-Containing Kinase AZK 4
  • Sterile Alpha Motif And Leucine Zipper Containing Kinase AZK 3
  • ZAK1 Homolog, Leucine Zipper And Sterile-Alpha Motif Kinase 3
  • Leucine Zipper- And Sterile Alpha Motif-Containing Kinase 4
  • Mixed Lineage Kinase-Related Kinase MRK-Beta 3
  • Mixed Lineage Kinase-Related Kinase 4
  • MLK-Related Kinase 4
  • EC 2.7.11.25 4
  • MLTKalpha 3
  • EC 2.7.11 52
  • MLTKbeta 3
  • Mlklak 3
  • SFMMP 3
  • CNM6 3
  • MLK7 3
  • AZK 3
  • MLT 3
  • Pk 3

External Ids for MAP3K20 Gene

Summaries for MAP3K20 Gene

Entrez Gene Summary for MAP3K20 Gene

  • This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAP3K20 Gene

MAP3K20 (Mitogen-Activated Protein Kinase Kinase Kinase 20) is a Protein Coding gene. Diseases associated with MAP3K20 include Split-Foot Malformation With Mesoaxial Polydactyly and Myopathy, Centronuclear, 6, With Fiber-Type Disproportion. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Signaling mediated by p38-gamma and p38-delta. An important paralog of this gene is MAP3K9.

UniProtKB/Swiss-Prot Summary for MAP3K20 Gene

  • Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636).
  • [Isoform 1]: Phosphorylates histone H3 at 'Ser-28' (PubMed:15684425). May have role in neoplastic cell transformation and cancer development (PubMed:15172994). Causes cell shrinkage and disruption of actin stress fibers (PubMed:11042189).

Gene Wiki entry for MAP3K20 Gene

Additional gene information for MAP3K20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAP3K20 Gene

Genomics for MAP3K20 Gene

GeneHancer (GH) Regulatory Elements for MAP3K20 Gene

Promoters and enhancers for MAP3K20 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J173074 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 514.4 +2.9 2858 7.4 HNRNPK ZBTB40 EP300 CTCF TCF12 POLR2G GTF2E2 FOS ZFX ZNF10 MAP3K20 piR-50444-266
GH02J173148 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 27.6 +75.7 75714 6.3 JUND FOS POLR2A ZNF316 ZBTB17 MAFF FOSL2 MAFK CEBPB JUN MAP3K20 piR-50444-266 piR-41995
GH02J173047 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 18.1 -25.9 -25894 3.3 ZSCAN5C TCF12 NCOR1 GTF2E2 JUND FOS ZNF639 POLR2A TCF7 TRIM28 MAP3K20 RF01061-093 HSALNG0020405 RAPGEF4
GH02J173101 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18 +26.6 26566 2 EP300 FOS FOXA2 CEBPG JUND BATF STAT3 IRF4 ATF2 RXRA piR-50444-266 MAP3K20
GH02J173209 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.7 +135.3 135266 2.2 FOXK2 CTCF ZSCAN5C TCF12 USF1 JUND FOS ZNF639 REST ZNF740 MAP3K20 ENSG00000236391 CDCA7 MAP3K20-AS1 piR-41995 piR-50444-266
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAP3K20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAP3K20

Genomic Locations for MAP3K20 Gene

Genomic Locations for MAP3K20 Gene
chr2:173,075,435-173,268,015
(GRCh38/hg38)
Size:
192,581 bases
Orientation:
Plus strand
chr2:173,940,163-174,132,738
(GRCh37/hg19)
Size:
192,576 bases
Orientation:
Plus strand

Genomic View for MAP3K20 Gene

Genes around MAP3K20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP3K20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP3K20 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAP3K20 Gene

Proteins for MAP3K20 Gene

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  • Protein details for MAP3K20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYL2-M3K20_HUMAN
    Recommended name:
    Mitogen-activated protein kinase kinase kinase 20
    Protein Accession:
    Q9NYL2
    Secondary Accessions:
    • B3KPG2
    • Q53SX1
    • Q580W8
    • Q59GY5
    • Q86YW8
    • Q9HCC4
    • Q9HCC5
    • Q9HDD2
    • Q9NYE9

    Protein attributes for MAP3K20 Gene

    Size:
    800 amino acids
    Molecular mass:
    91155 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer (PubMed:10924358, PubMed:26755636). Interacts with PKN1 and ZNF33A (PubMed:12535642, PubMed:12761180). Component of a signaling complex containing at least AKAP13, PKN1, MAPK14, MAP3K20 and MAP2K3. Within this complex, AKAP13 interacts directly with PKN1, which in turn recruits MAPK14, MAP2K3 and MAP3K20 (PubMed:21224381).
    SequenceCaution:
    • Sequence=BAD92211.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAP3K20 Gene

    Alternative splice isoforms for MAP3K20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP3K20 Gene

Selected DME Specific Peptides for MAP3K20 Gene

Q9NYL2:
  • LKICDFG
  • WMAPEVI
  • VIHRDLK

Post-translational modifications for MAP3K20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAP3K20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAP3K20 Gene

Gene Families for MAP3K20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MAP3K20 Gene

Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAP3K20 Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase (D4Q8H0_HUMAN)
  • Sterile alpha motif- and leucine zipper-containing kinase AZK (MLTK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYL2

UniProtKB/Swiss-Prot:

M3K20_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 MAP3K20: view

Function for MAP3K20 Gene

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Molecular function for MAP3K20 Gene

UniProtKB/Swiss-Prot Function:
Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Phosphorylates histone H3 at 'Ser-28' (PubMed:15684425). May have role in neoplastic cell transformation and cancer development (PubMed:15172994). Causes cell shrinkage and disruption of actin stress fibers (PubMed:11042189).
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; Evidence=. ;.
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; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation by PKN1 and autophosphorylation on Thr-161 and Ser-165.

Enzyme Numbers (IUBMB) for MAP3K20 Gene

Phenotypes From GWAS Catalog for MAP3K20 Gene

Gene Ontology (GO) - Molecular Function for MAP3K20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 11836244
GO:0003723 RNA binding HDA 22681889
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 11836244
genes like me logo Genes that share ontologies with MAP3K20: view
genes like me logo Genes that share phenotypes with MAP3K20: view

Human Phenotype Ontology for MAP3K20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MAP3K20 Gene

Localization for MAP3K20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP3K20 Gene

Cytoplasm. Nucleus. Note=Translocates to the nucleus upon ultraviolet B irradiation. {ECO:0000269 PubMed:15684425}.

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 MAP3K20 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MAP3K20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MAP3K20: view

Pathways & Interactions for MAP3K20 Gene

PathCards logo

SuperPathways for MAP3K20 Gene

SuperPathway Contained pathways
1 MAPK signaling pathway
MAPK signaling pathway
.45
MAPK Signaling Pathway
.45
2 Sertoli-Sertoli Cell Junction Dynamics
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
3 G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
.40
4 Signaling mediated by p38-gamma and p38-delta
Signaling mediated by p38-gamma and p38-delta
-
genes like me logo Genes that share pathways with MAP3K20: view

Pathways by source for MAP3K20 Gene

1 KEGG pathway for MAP3K20 Gene
1 GeneGo (Thomson Reuters) pathway for MAP3K20 Gene
  • G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
2 Qiagen pathways for MAP3K20 Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics

SIGNOR curated interactions for MAP3K20 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MAP3K20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 11836244
GO:0000165 MAPK cascade IEA --
GO:0000186 activation of MAPKK activity TAS 11836244
GO:0006468 protein phosphorylation IDA 11836244
GO:0007010 cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with MAP3K20: view

Drugs & Compounds for MAP3K20 Gene

Products:

  1. Drug

(7) Drugs for MAP3K20 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 319
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for MAP3K20 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with MAP3K20: view

Transcripts for MAP3K20 Gene

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mRNA/cDNA for MAP3K20 Gene

2 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP3K20 Gene

No ASD Table

Relevant External Links for MAP3K20 Gene

GeneLoc Exon Structure for
MAP3K20

Expression for MAP3K20 Gene

Products:

  1. Primer

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAP3K20

mRNA Expression by UniProt/SwissProt for MAP3K20 Gene:

Q9NYL2-M3K20_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 2 is the predominant form in all tissues examined, except for liver, in which isoform 1 is more highly expressed.

Evidence on tissue expression from TISSUES for MAP3K20 Gene

  • Heart(4.6)
  • Nervous system(4.6)
  • Liver(4.2)
  • Muscle(2.7)
  • Intestine(2.4)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MAP3K20: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP3K20 Gene

Orthologs for MAP3K20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAP3K20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LOC459745 30
  • 99.54 (n)
ZAK 31
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia -- 31
  • 92 (a)
 OneToOne
ZAK 30
  • 90.92 (n)
dog
(Canis familiaris)
 Mammalia -- 31
  • 92 (a)
 OneToOne
ZAK 30
  • 91.12 (n)
mouse
(Mus musculus)
 Mammalia Zak 31 30
  • 87.65 (n)
 OneToOne
Map3k20 17
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 87 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Zak 30
  • 86.13 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ZAK 30
  • 75.02 (n)
-- 31
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 63 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100495797 30
  • 70.25 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:dkey-15i8.3 30
  • 63.16 (n)
zak 31 31
  • 63 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 58 (a)
 OneToOne
Species where no ortholog for MAP3K20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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 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 MAP3K20 Gene

ENSEMBL:
Gene Tree for MAP3K20 (if available)
TreeFam:
Gene Tree for MAP3K20 (if available)

Paralogs for MAP3K20 Gene

Paralogs for MAP3K20 Gene

genes like me logo Genes that share paralogs with MAP3K20: view

Variants for MAP3K20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAP3K20 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
709622 Benign: not provided 173,182,851(+) T/C INTRON_VARIANT
726848 Benign: not provided 173,266,394(+) C/T MISSENSE_VARIANT
734728 Likely Benign: not provided 173,239,483(+) G/A MISSENSE_VARIANT
736952 Likely Benign: not provided 173,217,160(+) T/C SYNONYMOUS_VARIANT
773489 Benign: not provided 173,209,827(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MAP3K20 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAP3K20 Gene

Variant ID Type Subtype PubMed ID
esv3584178 CNV loss 25503493
nsv1072048 CNV deletion 25765185
nsv1126571 CNV deletion 24896259
nsv3036 CNV insertion 18451855
nsv3037 CNV insertion 18451855
nsv834460 CNV gain 17160897
nsv834461 CNV loss 17160897
nsv953517 CNV duplication 24416366

Variation tolerance for MAP3K20 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.70; 78.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAP3K20 Gene

Human Gene Mutation Database (HGMD)
MAP3K20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP3K20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP3K20 Gene

Disorders for MAP3K20 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MAP3K20 Gene - From: LncRNADisease, UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

M3K20_HUMAN
  • Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890]: An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. {ECO:0000269 PubMed:26755636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, centronuclear, 6, with fiber-type disproportion (CNM6) [MIM:617760]: A form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood. {ECO:0000269 PubMed:27816943, ECO:0000269 PubMed:30237576}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAP3K20

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAP3K20: view

No data available for Genatlas for MAP3K20 Gene

Publications for MAP3K20 Gene

  1. Cloning and expression of ZAK, a mixed lineage kinase-like protein containing a leucine-zipper and a sterile-alpha motif. (PMID: 10924358) Liu TC … Yang JJ (Biochemical and biophysical research communications 2000) 2 3 4 23 54
  2. Regulation of a mitogen-activated protein kinase kinase kinase, MLTK by PKN. (PMID: 12761180) Takahashi M … Ono Y (Journal of biochemistry 2003) 3 4 23 54
  3. MRK, a mixed lineage kinase-related molecule that plays a role in gamma-radiation-induced cell cycle arrest. (PMID: 11836244) Gross EA … Ruggieri R (The Journal of biological chemistry 2002) 3 4 23 54
  4. Identification and characterization of a novel MAP kinase kinase kinase, MLTK. (PMID: 11042189) Gotoh I … Nishida E (The Journal of biological chemistry 2001) 3 4 23 54
  5. Tissue distribution and functional expression of a cDNA encoding a novel mixed lineage kinase. (PMID: 11549352) Bloem LJ … Wang X (Journal of molecular and cellular cardiology 2001) 3 4 23 54

ExternalLinks

View latest publications for MAP3K20 gene in Mastermind

Products for MAP3K20 Gene

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  • Signalway Proteins for MAP3K20

Sources for MAP3K20 Gene