Previous symbols: PRKMK2. Aliases: MEK2, MKK2.
ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Cardiofaciocutaneous Syndrome | causative |
mechanism: MEK1 and MEK2 Kinase Hyperactivation
subtype: CFC4
scoped to subtype: CFC4
|
| Noonan Syndrome |
untyped
Pathogenic Variants
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| cardiofaciocutaneous syndrome MONDO:0015280 | AD | Definitive 2018-07-24 |
Cardiofaciocutaneous Syndrome
causative
|
| Noonan syndrome MONDO:0018997 | AD | Limited 2018-06-01 |
Noonan Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.