MAP3K11

mitogen-activated protein kinase kinase kinase 11, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 11:65597756-65615382

Previous symbols: [ "MLK3", "PTK1" ]

Links

ENSG00000173327 ∙ NCBI:4296 ∙ OMIM:600050 ∙ HGNC:6850 ∙ Uniprot:Q16584 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAP3K11 gene.

• not_specified (106 variants)
• Moyamoya_angiopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002419.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense		1	102	2		105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	102	4	0

Highest pathogenic variant AF is 0.000006840516

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP3K11	protein_coding	protein_coding	ENST00000309100	10	17628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0109	0.989	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	401	524	0.766	0.0000347	5291
Missense in Polyphen		155	231.25	0.67028		2269
Synonymous	-0.832	243	227	1.07	0.0000152	1869
Loss of Function	4.06	11	38.0	0.290	0.00000239	353

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000101	0.0000969
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000614	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000128	0.000123
Middle Eastern	0.0000614	0.0000544
South Asian	0.0000993	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle. {ECO:0000269|PubMed:12529434, ECO:0000269|PubMed:15258589, ECO:0000269|PubMed:8195146, ECO:0000269|PubMed:9003778}.
• Pathway: Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;EGF-Core;MAPK Signaling Pathway;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;RAF activation;Disease;Signal Transduction;mapkinase signaling pathway;IL-7 signaling;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;EPO signaling;IFN-gamma pathway;TNFalpha;VEGF;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;RAC1 signaling pathway;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Reelin signaling pathway (Consensus)

Recessive Scores

• pRec: 0.248

Intolerance Scores

• loftool: 0.273
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.71

Haploinsufficiency Scores

• pHI: 0.229
• hipred: Y
• hipred_score: 0.655
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.996

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Map3k11
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; craniofacial phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: MAPK cascade;activation of MAPK activity;protein phosphorylation;microtubule-based process;JNK cascade;activation of JNKK activity;activation of JUN kinase activity;cell death;cell population proliferation;positive regulation of apoptotic process;positive regulation of JUN kinase activity;positive regulation of neuron apoptotic process;positive regulation of JNK cascade;protein autophosphorylation
• Cellular component: cytoplasm;centrosome;microtubule;membrane
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;JUN kinase kinase kinase activity;protein binding;ATP binding;mitogen-activated protein kinase kinase binding;mitogen-activated protein kinase kinase kinase binding;identical protein binding;protein homodimerization activity;Rac GTPase binding