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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20859

FusionGeneSummary for MAP3K2_SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAP3K2_SHANK2
Fusion gene ID: 20859
HgeneTgene
Gene symbol

MAP3K2

SHANK2

Gene ID

10746

22941

Gene namemitogen-activated protein kinase kinase kinase 2SH3 and multiple ankyrin repeat domains 2
SynonymsMEKK2|MEKK2BAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

2q14.3

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptionmitogen-activated protein kinase kinase kinase 2MAP/ERK kinase kinase 2MAPK/ERK kinase kinase 2MEK kinase 2MEKK 2SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2018052320180523
UniProtAcc

Q9Y2U5

Q9UPX8

Ensembl transtripts involved in fusion geneENST00000409947, ENST00000344908, 
ENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
Fusion gene scores* DoF score5 X 5 X 2=5027 X 15 X 8=3240
# samples 530
** MAII scorelog2(5/50*10)=0log2(30/3240*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAP3K2 [Title/Abstract] AND SHANK2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMAP3K2

GO:0045893

positive regulation of transcription, DNA-templated

14515274


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-AC-A2BM-01AMAP3K2chr2

128145028

-SHANK2chr11

70830078

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000409947ENST00000449833MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000409161MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000423696MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000338508MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000409530MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000449116MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000357171MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000409947ENST00000468619MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000449833MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000409161MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000423696MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000338508MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000409530MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000449116MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000357171MAP3K2chr2

128145028

-SHANK2chr11

70830078

-
intron-intronENST00000344908ENST00000468619MAP3K2chr2

128145028

-SHANK2chr11

70830078

-

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FusionProtFeatures for MAP3K2_SHANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAP3K2

Q9Y2U5

SHANK2

Q9UPX8

Component of a protein kinase signal transductioncascade. Regulates the JNK and ERK5 pathways by phosphorylatingand activating MAP2K5 and MAP2K7 (By similarity). Plays a role incaveolae kiss-and-run dynamics. {ECO:0000250,ECO:0000269|PubMed:10713157, ECO:0000269|PubMed:16001074}. Seems to be an adapter protein in the postsynapticdensity (PSD) of excitatory synapses that interconnects receptorsof the postsynaptic membrane including NMDA-type and metabotropicglutamate receptors, and the actin-based cytoskeleton. May play arole in the structural and functional organization of thedendritic spine and synaptic junction.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MAP3K2_SHANK2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MAP3K2_SHANK2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MAP3K2SFN, MAP2K5, SH2D2A, YWHAE, MAP2K7, MAP2K4, MAPK8, XIAP, IKBKG, PIBF1, NEDD4, YWHAB, YWHAG, NEDD4L, STUB1, SMURF1, MAP3K2, MAP2K3, STK38, HSP90AA1, BIRC2, STAMBP, USP2, MAP3K3, MAPK7, STX3, YWHAZ, YWHAQ, TRAF7, CTNNB1, GSK3B, BTRC, AXIN1, AXIN2, RAB3IP, CBY1, TRIM25SHANK2CTTN, DNM2, ARHGEF7, DLGAP1, DLG4, DYNLL2, DYNLL1, MYO5A, DLGAP2, DLGAP3, DLGAP4, NLK, SHARPIN, XPO1, CDH1, EGFR, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MAP3K2_SHANK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMAP3K2Q9Y2U5DB06616BosutinibMitogen-activated protein kinase kinase kinase 2small moleculeapproved

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RelatedDiseases for MAP3K2_SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C3714756Intellectual Disability1CTD_human