p-12Y-BIN2(1-253)insRVSLGSILSVSS-PDGFRB(572-1106) fusion [plasma membrane]

Stable Identifier
R-HSA-9673639
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
20085582 Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms

Grand, FH, Hidalgo-Curtis, C, Apperley, JF, Stark, A, Jeng, M, Gotlib, J, Cross, NC, Stark, A, Chase, A

Br. J. Haematol. 2010
External Reference Information
External Reference
UniProt:Q9UBW5 BIN2
Gene Names
BIN2, BRAP1
Chain
chain:1-565
Reference Genes
BioGPS Gene:51411 BIN2
COSMIC (genes):BIN2 BIN2
CTD Gene:51411 BIN2
dbSNP Gene:51411 BIN2
ENSEMBL:ENSG00000110934 BIN2
ENSEMBL_homo_sapiens_GENE:ENSG00000110934.13 BIN2
HGNC:1053 BIN2
KEGG Gene (Homo sapiens):51411 BIN2
Monarch:51411 BIN2
NCBI Gene:51411 BIN2
OMIM:605936 BIN2
UCSC:Q9UBW5 BIN2
Reference Transcript
Other Identifiers
11720998_a_at
11720999_a_at
16764732
219191_PM_s_at
219191_s_at
2733718
3454842
3454843
3454844
3454845
3454846
3454847
3454848
3454849
3454850
3454851
3454852
3454853
3454855
3454856
3454857
3454859
3454860
3454862
3454864
3454865
3454866
51411
58240_at
76501_at
7963289
GE53775
GO:0001891
GO:0002102
GO:0005515
GO:0005543
GO:0005576
GO:0005737
GO:0005856
GO:0005886
GO:0005938
GO:0006911
GO:0008289
GO:0016020
GO:0016192
GO:0031410
GO:0034774
GO:0042995
GO:0043226
GO:0048870
GO:0060326
GO:0061024
GO:0065003
GO:0070161
GO:0071800
GO:0097320
GO:1904813
HMNXSV003007778
ILMN_1726342
PH_hs_0031017
TC12001507.hg
g7706486_3p_a_at
Participates
as a component of
Other forms of this molecule
BIN2(1-253)insRVSLGSILSVSS-PDGFRB(572-1106) fusion [plasma membrane]
BIN2 [secretory granule lumen]
BIN2 [extracellular region]
BIN2 [ficolin-1-rich granule lumen]
Modified Residues
Name
Insertion of residues 572 to 1106 at 254 from UniProt:P09619 PDGFRB
Coordinate
254
Name
Replacement of residues 253 to 253 by SRVSLGSILSVSS
Name
O4'-phospho-L-tyrosine at 1009
Coordinate
1009
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 1021
Coordinate
1021
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 579
Coordinate
579
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 581
Coordinate
581
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 716
Coordinate
716
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 740
Coordinate
740
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 751
Coordinate
751
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 763
Coordinate
763
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 771
Coordinate
771
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 775
Coordinate
775
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 778
Coordinate
778
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at 857
Coordinate
857
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Disease
Name Identifier Synonyms
myelodysplastic myeloproliferative cancer DOID:4972 Myeloproliferative/Myelodysplastic syndromes, unclassifiable myelodysplastic myeloproliferative disease, Unclassifiable Myeloproliferative/Myelodysplastic syndrome, Myelodysplastic/myeloproliferative disease (morphologic abnormality)
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
PDB
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