MAP3K13

Chr 3

mitogen-activated protein kinase kinase kinase 13

Also known as: LZK, MEKK13, MLK

The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.34
Clinical SummaryMAP3K13
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
117 VUS of 144 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.801
Z-score 5.19
OE 0.20 (0.120.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.19Z-score
OE missense 0.74 (0.680.80)
410 obs / 555.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.20 (0.120.34)
00.351.4
Missense OE?0.74 (0.680.80)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 10 / 49.4Missense obs/exp: 410 / 555.5Syn Z: 0.65

ClinVar Variant Classifications

144 submitted variants in ClinVar

Classification Summary

VUS117
Likely Benign8
Benign1
117
VUS
8
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
117
0
0
117
Likely Benign
0
7
0
1
8
Benign
0
0
0
1
1
Total012402126

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

44 pathogenic / likely-pathogenic (of 50) ClinVar copy-number / structural variants overlap MAP3K13 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

MAP3K13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →