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MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 [ Homo sapiens (human) ]

Gene ID: 5871, updated on 21-Dec-2019

Summary

Official Symbol
MAP4K2provided by HGNC
Official Full Name
mitogen-activated protein kinase kinase kinase kinase 2provided by HGNC
Primary source
HGNC:HGNC:6864
See related
Ensembl:ENSG00000168067 MIM:603166
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
GCK; BL44; RAB8IP
Summary
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-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression
Broad expression in spleen (RPKM 10.3), lymph node (RPKM 8.4) and 24 other tissues See more
Orthologs

Genomic context

See MAP4K2 in Genome Data Viewer
Location:
11q13.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64784918..64803248, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64556609..64570720, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glycogen phosphorylase, muscle associated Neighboring gene splicing factor 1 Neighboring gene menin 1 Neighboring gene CDC42 binding protein kinase gamma Neighboring gene Sharpr-MPRA regulatory region 8286

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

NHGRI GWAS Catalog

Description
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
MAP kinase kinase kinase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitogen-activated protein kinase kinase kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
JNK cascade TAS
Traceable Author Statement
more info
PubMed 
activation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPKKK activity IEA
Inferred from Electronic Annotation
more info
 
activation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction by protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle targeting IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mitogen-activated protein kinase kinase kinase kinase 2
Names
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)
NP_001294919.1
NP_004570.2
XP_011543506.1
XP_016873582.1
XP_016873584.1
XP_024304397.1
XP_024304398.1
XP_024304399.1
XP_024304401.1
XP_024304402.1

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_033040.1 RefSeqGene

    Range
    4988..19141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001307990.2NP_001294919.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform 2

    See identical proteins and their annotated locations for NP_001294919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at an internal exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AP001462, BC047865, BU844790, U07349
    Consensus CDS
    CCDS81582.1
    UniProtKB/Swiss-Prot
    Q12851
    Related
    ENSP00000366567.3, ENST00000377350.7
    Conserved Domains (2) summary
    smart00036
    Location:480792
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    cd06613
    Location:16272
    STKc_MAP4K3_like; Catalytic domain of Mitogen-activated protein kinase kinase kinase kinase (MAP4K) 3-like Serine/Threonine Kinases
  2. NM_004579.5NP_004570.2  mitogen-activated protein kinase kinase kinase kinase 2 isoform 1

    See identical proteins and their annotated locations for NP_004570.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP001462, AW574847, BM458161, BU844790, U07349
    Consensus CDS
    CCDS8082.1
    UniProtKB/Swiss-Prot
    Q12851
    UniProtKB/TrEMBL
    A0A024R567
    Related
    ENSP00000294066.2, ENST00000294066.7
    Conserved Domains (3) summary
    smart00036
    Location:488800
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    smart00220
    Location:16272
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd06613
    Location:16272
    STKc_MAP4K3_like; Catalytic domain of Mitogen-activated protein kinase kinase kinase kinase (MAP4K) 3-like Serine/Threonine Kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64784918..64803248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018093.2XP_016873582.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X5

  2. XM_011545204.3XP_011543506.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X4

    Conserved Domains (3) summary
    smart00036
    Location:444756
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    smart00220
    Location:16228
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:16228
    PKc_like; Protein Kinases, catalytic domain
  3. XM_024448631.1XP_024304399.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X3

    Conserved Domains (2) summary
    smart00036
    Location:484796
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    cl21453
    Location:16228
    PKc_like; Protein Kinases, catalytic domain
  4. XM_024448630.1XP_024304398.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X2

    Conserved Domains (2) summary
    smart00036
    Location:528817
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    cd06613
    Location:16272
    STKc_MAP4K3_like; Catalytic domain of Mitogen-activated protein kinase kinase kinase kinase (MAP4K) 3-like Serine/Threonine Kinases
  5. XM_024448629.1XP_024304397.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X1

    Conserved Domains (2) summary
    smart00036
    Location:528840
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    cd06613
    Location:16272
    STKc_MAP4K3_like; Catalytic domain of Mitogen-activated protein kinase kinase kinase kinase (MAP4K) 3-like Serine/Threonine Kinases
  6. XM_017018095.2XP_016873584.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X8

  7. XM_024448633.1XP_024304401.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X6

    Conserved Domains (2) summary
    smart00036
    Location:351663
    CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
    cl21453
    Location:195
    PKc_like; Protein Kinases, catalytic domain
  8. XM_024448634.1XP_024304402.1  mitogen-activated protein kinase kinase kinase kinase 2 isoform X7

    Conserved Domains (2) summary
    cd06613
    Location:16272
    STKc_MAP4K3_like; Catalytic domain of Mitogen-activated protein kinase kinase kinase kinase (MAP4K) 3-like Serine/Threonine Kinases
    cl02434
    Location:528618
    CNH; CNH domain

RNA

  1. XR_002957155.1 RNA Sequence

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