MAP3K10

mitogen-activated protein kinase kinase kinase 10, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 19:40191426-40215575

Previous symbols: [ "MLK2" ]

Links

ENSG00000130758 ∙ NCBI:4294 ∙ OMIM:600137 ∙ HGNC:6849 ∙ Uniprot:Q02779 ∙ 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 MAP3K10 gene.

• not_specified (129 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002446.4. 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				1		1
missense			125	4		129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	125	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP3K10	protein_coding	protein_coding	ENST00000253055	10	23832

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.588	0.412	125697	0	38	125735	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	367	564	0.650	0.0000390	5952
Missense in Polyphen		104	217.36	0.47847		2161
Synonymous	1.55	215	246	0.875	0.0000167	2075
Loss of Function	3.95	6	29.0	0.207	0.00000134	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000659	0.000657
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000148	0.000141
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000174	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates the JUN N-terminal pathway. {ECO:0000250}.
• Pathway: EGF-Core;Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;VEGF;p38 MAPK signaling pathway (Consensus)

Recessive Scores

• pRec: 0.155

Intolerance Scores

• loftool: 0.176
• rvis_EVS: -1.13
• rvis_percentile_EVS: 6.48

Haploinsufficiency Scores

• pHI: 0.303
• hipred: Y
• hipred_score: 0.775
• ghis: 0.645

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Map3k10
• Phenotype: skeleton phenotype; immune system phenotype; normal phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: MAPK cascade;apoptotic process;signal transduction;smoothened signaling pathway;JNK cascade;activation of JNKK activity;activation of JUN kinase activity;peptidyl-serine phosphorylation;peptidyl-threonine phosphorylation;positive regulation of apoptotic process;negative regulation of DNA-binding transcription factor activity;positive regulation of JUN kinase activity;negative regulation of transcription, DNA-templated;positive regulation of JNK cascade;protein autophosphorylation
• Cellular component: cytoplasm
• Molecular function: transcription corepressor activity;protein kinase activity;protein serine/threonine kinase activity;JUN kinase kinase kinase activity;ATP binding;protein homodimerization activity;bHLH transcription factor binding