• Gene id: 5871

Gene Summary

• Gene Symbol: MAP4K2   Gene   UCSC   Ensembl
• Aliases: BL44, GCK, RAB8IP
• Gene name: mitogen-activated protein kinase kinase kinase kinase 2
• Alternate names: mitogen-activated protein kinase kinase kinase kinase 2, B lymphocyte serine/threonine protein kinase, MAPK/ERK kinase kinase kinase 2, MEK kinase kinase 2, MEKKK 2, Rab8 interacting protein, germinal centre kinase (GC kinase),
• Gene location: 11q13.1 (64803247: 64784917)     Exons: 32     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-ce
• OMIM: 603166

Protein Summary

• Protein general information: Q12851  
  • Name: Mitogen activated protein kinase kinase kinase kinase 2 (EC 2.7.11.1) (B lymphocyte serine/threonine protein kinase) (Germinal center kinase) (GC kinase) (MAPK/ERK kinase kinase kinase 2) (MEK kinase kinase 2) (MEKKK 2) (Rab8 interacting protein)
  • Length: 820  
  • Mass: 91556
  • Tissue specificity: Highly expressed in germinal center but not mantle zone B-cells. Also expressed in lung, brain and placenta and at lower levels in other tissues examined. {ECO
• Sequence:

  MALLRDVSLQDPRDRFELLQRVGAGTYGDVYKARDTVTSELAAVKIVKLDPGDDISSLQQEITILRECRHPNVVA
  YIGSYLRNDRLWICMEFCGGGSLQEIYHATGPLEERQIAYVCREALKGLHHLHSQGKIHRDIKGANLLLTLQGDV
  KLADFGVSGELTASVAKRRSFIGTPYWMAPEVAAVERKGGYNELCDVWALGITAIELGELQPPLFHLHPMRALML
  MSKSSFQPPKLRDKTRWTQNFHHFLKLALTKNPKKRPTAEKLLQHPFTTQQLPRALLTQLLDKASDPHLGTPSPE
  DCELETYDMFPDTIHSRGQHGPAERTPSEIQFHQVKFGAPRRKETDPLNEPWEEEWTLLGKEELSGSLLQSVQEA
  LEERSLTIRSASEFQELDSPDDTMGTIKRAPFLGPLPTDPPAEEPLSSPPGTLPPPPSGPNSSPLLPTAWATMKQ
  REDPERSSCHGLPPTPKVHMGACFSKVFNGCPLRIHAAVTWIHPVTRDQFLVVGAEEGIYTLNLHELHEDTLEKL
  ISHRCSWLYCVNNVLLSLSGKSTHIWAHDLPGLFEQRRLQQQVPLSIPTNRLTQRIIPRRFALSTKIPDTKGCLQ
  CRVVRNPYTGATFLLAALPTSLLLLQWYEPLQKFLLLKNFSSPLPSPAGMLEPLVLDGKELPQVCVGAEGPEGPG
  CRVLFHVLPLEAGLTPDILIPPEGIPGSAQQVIQVDRDTILVSFERCVRIVNMQGEPTATLAPELTFDFPIETVV
  CLQDSVLAFWSHGMQGRSLDTNEVTQEITDETRIFRVLGAHRDIILESIPTDNPEAHSNLYILTGHQSTY

• Structural information:
  • Protein Domains: (16..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (482..79-)
    (/note="CNH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00795"-)
  • Interpro: IPR001180  IPR011009  IPR021160  IPR000719  IPR017441  
  • Prosite: PS50219 PS00107 PS50011
  • STRING: ENSP00000294066
• Other Databases: GeneCards:  MAP4K2  Malacards:  MAP4K2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031098	stress-activated protein kinase signaling cascade	IBA	biological process
GO:0023014	signal transduction by protein phosphorylation	IBA	biological process
GO:0032147	activation of protein kinase activity	IBA	biological process
GO:0008349	MAP kinase kinase kinase kinase activity	IBA	molecular function
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0008349	MAP kinase kinase kinase kinase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006955	immune response	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006903	vesicle targeting	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000185	activation of MAPKKK activity	IEA	biological process
GO:0000185	activation of MAPKKK activity	IEA	biological process
GO:0046330	positive regulation of JNK cascade	IDA	biological process
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0007257	activation of JUN kinase activity	IDA	biological process
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq