MAP3K20 (mitogen-activated protein kinase kinase kinase 20)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51776
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase kinase 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP3K20
Synonyms (NCBI Gene) Gene synonyms aliases
AZK, CNM6, MLK7, MLT, MLTK, MLTKalpha, MLTKbeta, MRK, SFMMP, ZAK, mlklak, pk
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CNM6, SFMMP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez 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 homodime
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs1293675104 AT>- Pathogenic Coding sequence variant, frameshift variant
rs1553576774 ->T Pathogenic Stop gained, coding sequence variant
rs1553578407 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT522476 hsa-miR-6752-3p PAR-CLIP 23446348
MIRT522475 hsa-miR-1913 PAR-CLIP 23446348
MIRT522474 hsa-miR-324-3p PAR-CLIP 23446348
MIRT522472 hsa-miR-4749-3p PAR-CLIP 23446348
MIRT522473 hsa-miR-210-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint IMP 11836244
GO:0000186 Process Activation of MAPKK activity TAS 11836244
GO:0000287 Function Magnesium ion binding IDA 11836244
GO:0003723 Function RNA binding HDA 22681889
GO:0004674 Function Protein serine/threonine kinase activity IDA 11836244
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609479 17797 ENSG00000091436
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NYL2
Protein name Mitogen-activated protein kinase kinase kinase 20 (EC 2.7.11.25) (Human cervical cancer suppressor gene 4 protein) (HCCS-4) (Leucine zipper- and sterile alpha motif-containing kinase) (MLK-like mitogen-activated protein triple kinase) (Mitogen-activated p
Protein function Stress-activated component of a protein kinase signal transduction cascade that promotes programmed cell death in response to various stress, such as ribosomal stress, osmotic shock and ionizing radiation (PubMed:10924358, PubMed:11836244, PubMe
PDB 5HES , 5X5O , 6JUT , 6JUU , 7YAW , 7YAZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 16 → 260 Protein tyrosine and serine/threonine kinase Domain
PF00536 SAM_1 337 → 408 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform ZAKbeta is the predominant form in all tissues examined, except for liver, in which isoform ZAKalpha is more highly expressed. {ECO:0000269|PubMed:10924358, ECO:0000269|PubMed:11836244}.
Sequence 
MSSLGASFVQIKFDDLQFFENCGGGSFGSVYRAKWISQDKEVAVKKLLKIEKEAEILSVL
SHRNIIQFYGVILEPPNYGIVTEYASLGSLYDYINSNRSEEMDMDHIMTWATDVAKGMHY
LHMEAPVKVIHRDLKSRNVVIAADGVLKICDFGASRFHNHTTHMSLVGTFPWMAPEVIQS
LPVSETCDTYSYGVVLWEMLTREVPFKGLEGLQVAWLVVEKNERLTIPSSCPRSFAELLH
QCWEADAKKRPSFKQIISILESMSNDTSLPDKCNSFLHNKAEWRCEIEATLERLKKLERD
LSFKEQELKERERRLKMWEQKLTEQSNTPLLPSFEIGAWTEDDVYCWVQQLVRKGDSSAE
MSVYASLFKENNITGKRLLLLEEEDLKDMGIVSKGHIIHFKSAIEKLTHDYINLFHFPPL
IKDSGGEPEENEEKIVNLELVFGFHLKPGTGPQDCKWKMYMEMDGDEIAITYIKDVTFNT
NLPDAEILKMTKPPFVMEKWIVGIAKSQTVECTVTYESDVRTPKSTKHVHSIQWSRTKPQ
DEVKAVQLAIQTLFTNSDGNPGSRSDSSADCQWLDTLRMRQIASNTSLQRSQSNPILGSP
FFSHFDGQDSYAAAVRRPQVPIKYQQITPVNQSRSSSPTQYGLTKNFSSLHLNSRDSGFS
SGNTDTSSERGRYSDRSRNKYGRGSISLNSSPRGRYSGKSQHSTPSRGRYPGKFYRVSQS
ALNPHQSPDFKRSPRDLHQPNTIPGMPLHPETDSRASEEDSKVSEGGWTKVEYRKKPHRP
SPAKTNKERARGDHRGWRNF
Sequence length 800
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  MAPK signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, Dilated rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Centronuclear myopathy with fiber-type disproportion MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION rs1293675104, rs1553578407, rs1553576774 27816943, 30237576
Congenital myopathy with fiber type disproportion Congenital Fiber Type Disproportion, Congenital fiber-type disproportion myopathy rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772
View all (11 more)		 27816943
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Split-Hand-Foot Malformation split hand-foot malformation GenCC
Split-Foot Malformation With Mesoaxial Polydactyly split-foot malformation-mesoaxial polydactyly syndrome GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 23450047
Carcinoma Hepatocellular Inhibit 25013376
Drug Related Side Effects and Adverse Reactions Inhibit 31312514
Glioma Associate 33127881
Heart Failure Associate 35235759
Myopathies Structural Congenital Associate 27816943
Neoplasms Associate 23607596, 32397561, 40095483
Squamous Intraepithelial Lesions Associate 37410084
Stomach Diseases Associate 24807215
Stomach Neoplasms Associate 24807215, 27727196