MAP3K9

mitogen-activated protein kinase kinase kinase 9, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 14:70722526-70809534

Previous symbols: [ "MLK1" ]

Links

ENSG00000006432

∙ NCBI:4293 ∙ OMIM:600136 ∙ HGNC:6861 ∙ Uniprot:P80192 ∙ 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 MAP3K9 gene.

not_specified (146 variants)
not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001284230.2. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				4 clinvar		4
missense			145 clinvar			145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	145	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP3K9	protein_coding	protein_coding	ENST00000555993	13	87009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.118	0.882	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	575	667	0.862	0.0000413	7241
Missense in Polyphen		223	285.52	0.78102		2923
Synonymous	1.65	231	265	0.871	0.0000153	2323
Loss of Function	4.67	11	44.7	0.246	0.00000258	483

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.000115	0.000109
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000160	0.000158
Middle Eastern	0.000115	0.000109
South Asian	0.0000987	0.0000980
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. {ECO:0000269|PubMed:11416147, ECO:0000269|PubMed:15610029}.;
Disease: DISEASE: Note=May play a role in esophageal cancer susceptibility and/or development.;
Pathway: EGF-Core;Angiopoietin Like Protein 8 Regulatory Pathway;Oxidative Damage;p38 MAPK Signaling Pathway;Insulin Signaling;p38 mapk signaling pathway;IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;VEGF (Consensus)

Recessive Scores

pRec: 0.131

Intolerance Scores

loftool: 0.264
rvis_EVS: -1.55
rvis_percentile_EVS: 3.31

Haploinsufficiency Scores

pHI: 0.148
hipred: Y
hipred_score: 0.605
ghis: 0.598

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.738

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Map3k9
Phenotype: normal phenotype;

Gene ontology

Biological process: MAPK cascade;protein phosphorylation;apoptotic process;activation of JNKK activity;activation of JUN kinase activity;positive regulation of apoptotic process;protein autophosphorylation
Cellular component: cellular_component
Molecular function: protein serine/threonine kinase activity;JUN kinase kinase kinase activity;MAP kinase kinase activity;protein binding;ATP binding;protein homodimerization activity