MAP3K3

mitogen-activated protein kinase kinase kinase 3, the group of Mitogen-activated protein kinase kinase kinases

Basic information

Region (hg38): 17:63622415-63696305

Previous symbols: [ "MEKK3" ]

Links

ENSG00000198909NCBI:4215OMIM:602539HGNC:6855Uniprot:Q99759AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAP3K3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP3K3 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
2
clinvar
3
clinvar
5
missense
1
clinvar
34
clinvar
1
clinvar
36
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
15
clinvar
15
Total 0 1 34 2 19

Variants in MAP3K3

This is a list of pathogenic ClinVar variants found in the MAP3K3 region.

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

Position Type Phenotype Significance ClinVar
17-63632650-G-A Benign (Jun 19, 2021)1271201
17-63632759-A-G not specified Uncertain significance (Mar 15, 2024)3293047
17-63632794-A-C not specified Uncertain significance (Mar 31, 2024)3293050
17-63632869-G-T Benign (Jun 20, 2021)1221866
17-63634724-A-G not specified Uncertain significance (May 27, 2022)2402386
17-63634734-C-G not specified Uncertain significance (Jan 09, 2024)3122940
17-63634742-A-C not specified Uncertain significance (Jan 23, 2024)3122941
17-63634746-G-A not specified Uncertain significance (Sep 17, 2021)2366262
17-63634769-T-C not specified Uncertain significance (Aug 23, 2021)2395972
17-63634778-G-A not specified Uncertain significance (Nov 17, 2023)3122944
17-63634778-G-T not specified Uncertain significance (Apr 19, 2024)3293049
17-63645770-AACAGCATGTC-A Benign (Jun 19, 2021)1253109
17-63652522-A-G Benign (Jun 19, 2021)1227056
17-63652589-A-C not specified Uncertain significance (May 08, 2024)3293055
17-63652635-T-A not specified Uncertain significance (Mar 23, 2022)2279700
17-63657696-T-C Benign (Jun 19, 2021)1244132
17-63657837-T-C not specified Uncertain significance (Jul 19, 2022)2302255
17-63657839-G-C not specified Uncertain significance (Jan 02, 2024)3122945
17-63657973-C-T Benign (Jun 20, 2021)1275005
17-63666680-A-G Benign (Jun 19, 2021)1247823
17-63666979-C-T not specified Uncertain significance (Dec 09, 2023)3122946
17-63667000-G-A not specified Uncertain significance (Feb 27, 2024)3122947
17-63667000-G-T not specified Uncertain significance (Feb 14, 2023)2463327
17-63667013-A-G not specified Uncertain significance (Sep 30, 2021)2411305
17-63681778-C-T not specified Uncertain significance (May 02, 2024)3293054

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAP3K3protein_codingprotein_codingENST00000361357 1773889
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9850.01471257380101257480.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.042934090.7160.00002564326
Missense in Polyphen671380.485521373
Synonymous0.7971371490.9170.000008741261
Loss of Function4.92639.30.1530.00000233415

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.00004430.0000439
Middle Eastern0.0001090.000109
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators. {ECO:0000269|PubMed:12912994, ECO:0000269|PubMed:14661019, ECO:0000269|PubMed:14743216, ECO:0000269|PubMed:9006902}.;
Pathway
Neurotrophin signaling pathway - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);EGF-Core;IL-1 signaling pathway;TNF alpha Signaling Pathway;EBV LMP1 signaling;Structural Pathway of Interleukin 1 (IL-1);Angiopoietin Like Protein 8 Regulatory Pathway;MAPK Cascade;EGF-EGFR Signaling Pathway;Insulin Signaling;Signaling by Interleukins;mapkinase signaling pathway;Cytokine Signaling in Immune system;Interleukin-1 signaling;Immune System;IL-7 signaling;EGFR1;JAK STAT pathway and regulation;EPO signaling;TNFalpha;VEGF;TNF receptor signaling pathway ;Regulation of p38-alpha and p38-beta;p38 MAPK signaling pathway;IL1-mediated signaling events;Interleukin-1 family signaling (Consensus)

Recessive Scores

pRec
0.240

Intolerance Scores

loftool
0.183
rvis_EVS
-1.07
rvis_percentile_EVS
7.37

Haploinsufficiency Scores

pHI
0.798
hipred
Y
hipred_score
0.786
ghis
0.621

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.997

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Map3k3
Phenotype
hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); embryo phenotype; immune system phenotype; muscle phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
MAPK cascade;activation of MAPKK activity;blood vessel development;signal transduction by protein phosphorylation;stress-activated protein kinase signaling cascade;activation of protein kinase activity;intracellular signal transduction;positive regulation of I-kappaB kinase/NF-kappaB signaling;protein autophosphorylation;interleukin-1-mediated signaling pathway;positive regulation of cell proliferation in bone marrow;positive regulation of cell migration involved in sprouting angiogenesis;positive regulation of p38MAPK cascade;negative regulation of cellular senescence
Cellular component
cytoplasm;cytosol
Molecular function
protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase kinase activity;protein binding;ATP binding;metal ion binding