• Gene id: 6416

Gene Summary

• Gene Symbol: MAP2K4   Gene   UCSC   Ensembl
• Aliases: JNKK, JNKK1, MAPKK4, MEK4, MKK4, PRKMK4, SAPKK-1, SAPKK1, SEK1, SERK1, SKK1
• Gene name: mitogen-activated protein kinase kinase 4
• Alternate names: dual specificity mitogen-activated protein kinase kinase 4, JNK-activated kinase 1, JNK-activating kinase 1, MAP kinase kinase 4, MAPK/ERK kinase 4, MAPKK 4, MEK 4, SAPK/ERK kinase 1, c-Jun N-terminal kinase kinase 1, stress-activated protein kinase kinase 1,
• Gene location: 17p12 (12020821: 12143827)     Exons: 15     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, different
• OMIM: 601335

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: P45985  
  • Name: Dual specificity mitogen activated protein kinase kinase 4 (MAP kinase kinase 4) (MAPKK 4) (EC 2.7.12.2) (JNK activating kinase 1) (MAPK/ERK kinase 4) (MEK 4) (SAPK/ERK kinase 1) (SEK1) (Stress activated protein kinase kinase 1) (SAPK kinase 1) (SAPKK 1)
  • Length: 399  
  • Mass: 44288
  • Tissue specificity: Abundant expression is seen in the skeletal muscle. It is also widely expressed in other tissues.
• Sequence:

  MAAPSPSGGGGSGGGSGSGTPGPVGSPAPGHPAVSSMQGKRKALKLNFANPPFKSTARFTLNPNPTGVQNPHIER
  LRTHSIESSGKLKISPEQHWDFTAEDLKDLGEIGRGAYGSVNKMVHKPSGQIMAVKRIRSTVDEKEQKQLLMDLD
  VVMRSSDCPYIVQFYGALFREGDCWICMELMSTSFDKFYKYVYSVLDDVIPEEILGKITLATVKALNHLKENLKI
  IHRDIKPSNILLDRSGNIKLCDFGISGQLVDSIAKTRDAGCRPYMAPERIDPSASRQGYDVRSDVWSLGITLYEL
  ATGRFPYPKWNSVFDQLTQVVKGDPPQLSNSEEREFSPSFINFVNLCLTKDESKRPKYKELLKHPFILMYEERAV
  EVACYVCKILDQMPATPSSPMYVD

• Structural information:
  • Protein Domains: (102..36-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 3ALN 3ALO 3VUT
  • PDBsum: 3ALN 3ALO 3VUT
  • STRING: ENSP00000410402
• Other Databases: GeneCards:  MAP2K4  Malacards:  MAP2K4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004708	MAP kinase kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0008545	JUN kinase kinase activity	IBA	molecular function
GO:0032147	activation of protein kinase activity	IBA	biological process
GO:0000187	activation of MAPK activity	IBA	biological process
GO:0007257	activation of JUN kinase activity	IBA	biological process
GO:0023014	signal transduction by protein phosphorylation	IBA	biological process
GO:0031098	stress-activated protein kinase signaling cascade	IBA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004672	protein kinase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007254	JNK cascade	TAS	biological process
GO:0004708	MAP kinase kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034393	positive regulation of smooth muscle cell apoptotic process	IEA	biological process
GO:0009611	response to wounding	IEA	biological process
GO:0072709	cellular response to sorbitol	IEA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0007257	activation of JUN kinase activity	IEA	biological process
GO:0007254	JNK cascade	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:2000672	negative regulation of motor neuron apoptotic process	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	IEA	biological process
GO:0045740	positive regulation of DNA replication	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IEA	molecular function
GO:0008545	JUN kinase kinase activity	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004708	MAP kinase kinase activity	IEA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa05132	Salmonella infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05161	Hepatitis B
hsa05418	Fluid shear stress and atherosclerosis
hsa05135	Yersinia infection
hsa04926	Relaxin signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04668	TNF signaling pathway
hsa04620	Toll-like receptor signaling pathway
hsa04912	GnRH signaling pathway
hsa05142	Chagas disease
hsa04012	ErbB signaling pathway
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa04664	Fc epsilon RI signaling pathway
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Ovarian serous carcinoma	PMID:16627982
urinary bladder cancer	PMID:15665277
pancreatic cancer	PMID:18772397
invasive ductal carcinoma	PMID:15592684
Chronic obstructive pulmonary disease	PMID:20699612
prostate carcinoma in situ	PMID:17577251
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)