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MAP2K2 mitogen-activated protein kinase kinase 2 [ Homo sapiens (human) ]

Gene ID: 5605, updated on 4-Oct-2020

Summary

Official Symbol
MAP2K2provided by HGNC
Official Full Name
mitogen-activated protein kinase kinase 2provided by HGNC
Primary source
HGNC:HGNC:6842
See related
Ensembl:ENSG00000126934 MIM:601263
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CFC4; MEK2; MKK2; MAPKK2; PRKMK2
Summary
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in duodenum (RPKM 32.3), testis (RPKM 26.3) and 25 other tissues See more
Orthologs

Genomic context

See MAP2K2 in Genome Data Viewer
Location:
19p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (4090321..4124184, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4090319..4124126, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein inhibitor of activated STAT 4 Neighboring gene zinc finger and BTB domain containing 7A Neighboring gene Sharpr-MPRA regulatory region 6873 Neighboring gene cAMP responsive element binding protein 3 like 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cardiofaciocutaneous syndrome 4
MedGen: C3809007 OMIM: 615280 GeneReviews: Cardiofaciocutaneous Syndrome
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-05-27)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2015-05-27)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120 PubMed
Nef nef HIV-1 Nef expression in primary T cells upregulates MEK1/2 activities, which induces the increased phosphorylation of ERK1/2 PubMed
Tat tat HIV-1 Tat activates PRKCQ (PKC-theta) kinase activity, which leads to RELA (NFkB), NRAS, RAF1, MAP2K1 (MEK1), MAP2K2 (MEK2), MAPK3 (ERK1), and MAPK1 (ERK2) activation, in Jurkat T cells that stably express Tat PubMed
tat HIV-1 Tat-mediated upregulation of ICAM-1 expression involves MEK1/2, JNK, and p38 MAPK proteins and downstream IKK2/NF-kappaB signaling pathways PubMed
tat Tat and IFN-gamma synergistically induce the expression of CXCL10, which is inhibited by MEK1/2 inhibitor and the p38 mitogen-activated protein kinase (MAPK) inhibitor PubMed
tat MAP2K2 is downregulated in HIV-1 Tat and NC cotransfection of HEK 293T cells PubMed
tat HIV-1 Tat activates mitogen-activated protein kinases ERK1 and ERK2 through the activation of MEK1 and MEK2, leading to induction of IL-8, IL-10, IP-10, iNOS, superoxide and TNF-alpha, as well as the activation of CREB and increased albumin permeability PubMed
Vpr vpr Inhibition of MEK1,2 impairs HIV-1 Vpr-induced BID cleavage PubMed
vpr Overexpression of HIV-1 Vpr decreases phosphorylation of MEK2 PubMed
vpr HIV-1 Vpr downregulates expression of genes involved in the MEK2-ERK pathway, including MAP2K2 (MEK2) and MKNK2 PubMed
nucleocapsid gag Mitogen-activated protein kinase kinase 2 (MAP2K2) is downregulated in HIV-1 Tat and NC cotransfection of HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26075

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
MAP kinase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MAP kinase kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
MAP-kinase scaffold activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
PDZ domain binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
protein serine/threonine/tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus TAS
Traceable Author Statement
more info
PubMed 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
early endosome TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
focal adhesion TAS
Traceable Author Statement
more info
PubMed 
late endosome TAS
Traceable Author Statement
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane HDA PubMed 

General protein information

Preferred Names
dual specificity mitogen-activated protein kinase kinase 2
Names
ERK activator kinase 2
MAP kinase kinase 2
MAPK/ERK kinase 2
mitogen-activated protein kinase kinase 2, p45
NP_109587.1
XP_006722862.1
XP_016882478.1
XP_016882479.1
XP_016882480.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007996.1 RefSeqGene

    Range
    5001..38808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_750

mRNA and Protein(s)

  1. NM_030662.4NP_109587.1  dual specificity mitogen-activated protein kinase kinase 2

    See identical proteins and their annotated locations for NP_109587.1

    Status: REVIEWED

    Source sequence(s)
    AA312322, BC000471
    Consensus CDS
    CCDS12120.1
    UniProtKB/Swiss-Prot
    P36507
    Related
    ENSP00000262948.3, ENST00000262948.9
    Conserved Domains (1) summary
    cd06649
    Location:66396
    PKc_MEK2; Catalytic domain of the dual-specificity Protein Kinase, Mitogen-Activated Protein (MAP)/Extracellular signal-Regulated Kinase (ERK) Kinase 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    4090321..4124184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722799.2XP_006722862.1  dual specificity mitogen-activated protein kinase kinase 2 isoform X3

    Conserved Domains (2) summary
    smart00220
    Location:72276
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:70294
    PKc_like; Protein Kinases, catalytic domain
  2. XM_017026990.1XP_016882479.1  dual specificity mitogen-activated protein kinase kinase 2 isoform X2

  3. XM_017026989.1XP_016882478.1  dual specificity mitogen-activated protein kinase kinase 2 isoform X1

  4. XM_017026991.1XP_016882480.1  dual specificity mitogen-activated protein kinase kinase 2 isoform X4

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