Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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

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
MIRT522471	hsa-miR-7976	PAR-CLIP	23446348
MIRT522470	hsa-miR-3173-5p	PAR-CLIP	23446348
MIRT522469	hsa-miR-6799-3p	PAR-CLIP	23446348
MIRT522468	hsa-miR-146b-3p	PAR-CLIP	23446348
MIRT522467	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT522466	hsa-miR-874-3p	PAR-CLIP	23446348

Show/Hide all(70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IMP	11836244
GO:0000165	Process	MAPK cascade	IDA	18331592
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	11836244
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	32289254, 32610081, 35857590
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004706	Function	JUN kinase kinase kinase activity	IDA	11836244, 12220515, 14521931, 32610081
GO:0004709	Function	MAP kinase kinase kinase activity	IDA	11836244, 15737997, 32289254, 32610081, 35857590
GO:0004709	Function	MAP kinase kinase kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	12761180, 15778465, 16189514, 21516116, 21988832, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311, 36931259
GO:0005524	Function	ATP binding	IDA	11836244
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	15684425, 32610081
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006468	Process	Protein phosphorylation	IDA	11836244
GO:0006954	Process	Inflammatory response	IMP	18331592
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007059	Process	Chromosome segregation	IBA
GO:0007254	Process	JNK cascade	IDA	11836244, 12220515, 14521931, 15737997, 32610081
GO:0007254	Process	JNK cascade	IEA
GO:0008219	Process	Cell death	NAS	11836244
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0019887	Function	Protein kinase regulator activity	IDA	32289254, 32610081, 35857590
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IBA
GO:0030154	Process	Cell differentiation	NAS	11836244
GO:0030295	Function	Protein kinase activator activity	IDA	32610081
GO:0031098	Process	Stress-activated protein kinase signaling cascade	IDA	8622669, 35857590
GO:0031098	Process	Stress-activated protein kinase signaling cascade	IDA	35857590
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038066	Process	P38MAPK cascade	IDA	11836244, 15737997, 32610081, 35857590
GO:0038066	Process	P38MAPK cascade	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	26755636
GO:0043022	Function	Ribosome binding	IDA	32289254, 32610081
GO:0043065	Process	Positive regulation of apoptotic process	IDA	10924358
GO:0043068	Process	Positive regulation of programmed cell death	IDA	32289254, 32610081
GO:0046777	Process	Protein autophosphorylation	IDA	12220515, 32289254
GO:0046872	Function	Metal ion binding	IEA
GO:0051403	Process	Stress-activated MAPK cascade	IDA	11836244, 20559024, 32289254, 32610081
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0051604	Process	Protein maturation	IDA	32109412
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	IMP	26755636
GO:0070181	Function	Small ribosomal subunit rRNA binding	IDA	32289254
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32109412
GO:0070269	Process	Pyroptotic inflammatory response	IDA	35857590
GO:0070303	Process	Negative regulation of stress-activated protein kinase signaling cascade	IDA	35857590
GO:0071480	Process	Cellular response to gamma radiation	IDA	11836244
GO:0071493	Process	Cellular response to UV-B	IDA	35857590
GO:0071493	Process	Cellular response to UV-B	IDA	32289254, 35857590
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140469	Process	GCN2-mediated signaling	IDA	32610081
GO:0140469	Process	GCN2-mediated signaling	IDA	25329545
GO:0170011	Function	Stalled ribosome sensor activity	IDA	32289254, 32610081, 35857590
GO:1902010	Process	Negative regulation of translation in response to endoplasmic reticulum stress	IDA	32610081
GO:1904291	Process	Positive regulation of mitotic DNA damage checkpoint	IDA	15342622
GO:1904784	Process	NLRP1 inflammasome complex assembly	IDA	22665479

MIM	HGNC	e!Ensembl
609479	17797	ENSG00000091436

Protein

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

	KEGG
	MAPK signaling pathway

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Centronuclear Myopathy with fiber-type disproportion	myopathy, centronuclear, 6, with fiber-type disproportion	rs1293675104, rs1553578407, rs1553576774	N/A
Split-Foot Malformation With Mesoaxial Polydactyly	split-foot malformation-mesoaxial polydactyly syndrome	rs863225437, rs1553576774	N/A
Split-Hand-Foot Malformation	Split hand-foot malformation 1	rs863225437	N/A
Centronuclear Myopathy	centronuclear myopathy	rs1293675104	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital myopathy with fiber type disproportion	congenital fiber-type disproportion myopathy	N/A	N/A	GenCC
Dementia	Dementia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Triple Negative Breast Neoplasms	Associate	31312514

MAP3K20 (mitogen-activated protein kinase kinase kinase 20)