MAP3K21

mitogen-activated protein kinase kinase kinase 21, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 1:233327724-233385148

Links

ENSG00000143674 ∙ NCBI:84451 ∙ OMIM:614793 ∙ HGNC:29798 ∙ Uniprot:Q5TCX8 ∙ 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 MAP3K21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K21 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	5	1	0

Variants in MAP3K21

This is a list of pathogenic ClinVar variants found in the MAP3K21 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-233328701-G-C		not specified	Uncertain significance (Nov 08, 2021)
1-233328708-G-C		not specified	Uncertain significance (Jul 20, 2021)
1-233328752-G-T		not specified	Uncertain significance (Jul 14, 2021)
1-233353961-G-T			Benign (Aug 08, 2018)
1-233354955-G-A		not specified	Uncertain significance (Jun 11, 2021)
1-233376030-C-T			Likely benign (Mar 01, 2024)
1-233382679-A-G		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP3K21	protein_coding	protein_coding	ENST00000366624	10	57381

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000104	0.999	125684	0	64	125748	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.78	411	526	0.782	0.0000291	6592
Missense in Polyphen		127	213.6	0.59457		2730
Synonymous	0.681	197	210	0.940	0.0000117	2166
Loss of Function	3.01	16	35.3	0.454	0.00000191	424

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000567	0.000567
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000761	0.000761
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000257	0.000255
Middle Eastern	0.000761	0.000761
South Asian	0.000131	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways. {ECO:0000269|PubMed:21602844}.
• Pathway: IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;VEGF (Consensus)

Intolerance Scores

• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.92

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.398
• ghis: 0.448

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Map3k21

Gene ontology

• Biological process: activation of MAPKK activity;protein phosphorylation;activation of JUN kinase activity;protein autophosphorylation
• Cellular component: cellular_component
• Molecular function: MAP kinase kinase kinase activity;protein binding;ATP binding;protein homodimerization activity