MAP2K2 |
Gene Facts External Data Attribution
- HGNC Symbol
- MAP2K2 (HGNC:6842) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- mitogen-activated protein kinase kinase 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PRKMK2
- Alias symbols
- MEK2, MKK2
- %HI
- 38.94(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.33(Read more about gnomAD LOEUF score)
- Cytoband
- 19p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr19:4090319-4124119 NCBI Ensembl UCSC GRCh38/hg38: chr19:4090321-4124122 NCBI Ensembl UCSC - MANE Select Transcript
- NM_030662.4 ENST00000262948.10 (Read more about MANE Select)
- Function
- Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126). {ECO:0000250|UniProtKB:Q63932, ECO:00002... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15886
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)