KEGG   VARIANT: 4005v1
Entry
4005v1                      Variant                                
Name
LMO2 rearrangement
Gene
LMO2  LIM domain only 2 [KO:K15612]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
translocation t(11;14) (p13;q11)
Variation
translocation t(7;11)(q35;p13)
Variation
deletion del(11)(p12p13)
Network
nt06240  Transcription
  Element
N00121  LMO2-rearrangement to transcriptional activation
N00122  LMO2-rearrangement to transcriptional repression
Reference
PMID:26108219
  Authors
Chambers J, Rabbitts TH
  Title
LMO2 at 25 years: a paradigm of chromosomal translocation proteins.
  Journal
Open Biol 5:150062 (2015)
DOI:10.1098/rsob.150062
Reference
PMID:23904235
  Authors
Larmonie NS, Dik WA, Meijerink JP, Homminga I, van Dongen JJ, Langerak AW
  Title
Breakpoint sites disclose the role of the V(D)J recombination machinery in the formation of T-cell receptor (TCR) and non-TCR associated aberrations in T-cell acute lymphoblastic leukemia.
  Journal
Haematologica 98:1173-84 (2013)
DOI:10.3324/haematol.2012.082156
Reference
PMID:16873670
  Authors
Van Vlierberghe P, van Grotel M, Beverloo HB, Lee C, Helgason T, Buijs-Gladdines J, Passier M, van Wering ER, Veerman AJ, Kamps WA, Meijerink JP, Pieters R
  Title
The cryptic chromosomal deletion del(11)(p12p13) as a new activation mechanism of LMO2 in pediatric T-cell acute lymphoblastic leukemia.
  Journal
Blood 108:3520-9 (2006)
DOI:10.1182/blood-2006-04-019927
LinkDB

KEGG   Homo sapiens (human): 8861
Entry
8861              CDS       T01001                                 
Symbol
LDB1, CLIM-2, CLIM2, LDB-1, NLI
Name
(RefSeq) LIM domain binding 1
  KO
K15617  LIM domain-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription
  Element
N00121  LMO2-rearrangement to transcriptional activation
N00122  LMO2-rearrangement to transcriptional repression
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    8861 (LDB1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    8861 (LDB1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 LIM domain-containing proteins
  Lim domain binding proteins
   8861 (LDB1)
SSDB
Motif
Pfam: LIM_bind LID
Other DBs
NCBI-GeneID: 8861
NCBI-ProteinID: NP_001106878
OMIM: 603451
HGNC: 6532
Ensembl: ENSG00000198728
Vega: OTTHUMG00000018950
Pharos: Q86U70(Tbio)
UniProt: Q86U70
Structure
LinkDB
Position
10:complement(102102088..102121442)
AA seq 411 aa
MSVGCACPGCSSKSFKLYSPKEPPNGNAFPPFHPGTMLDRDVGPTPMYPPTYLEPGIGRH
TPYGNQTDYRIFELNKRLQNWTEECDNLWWDAFTTEFFEDDAMLTITFCLEDGPKRYTIG
RTLIPRYFRSIFEGGATELYYVLKHPKEAFHSNFVSLDCDQGSMVTQHGKPMFTQVCVEG
RLYLEFMFDDMMRIKTWHFSIRQHRELIPRSILAMHAQDPQMLDQLSKNITRCGLSNSTL
NYLRLCVILEPMQELMSRHKTYSLSPRDCLKTCLFQKWQRMVAPPAEPTRQQPSKRRKRK
MSGGSTMSSGGGNTNNSNSKKKSPASTFALSSQVPDVMVVGEPTLMGGEFGDEDERLITR
LENTQFDAANGIDDEDSFNNSPALGANSPWNSKPPSSQESKSENPTSQASQ
NT seq 1236 nt   +upstreamnt  +downstreamnt
atgtcagtgggctgtgcctgtcctggttgttcctcaaagtcattcaagctgtactcgccg
aaggagcccccgaacggcaacgcctttccccccttccatcccggcaccatgctggatagg
gatgtgggcccaactcccatgtatccgcctacatacctggagccagggattgggaggcac
acaccatatggcaaccaaactgactacagaatatttgagcttaacaaacggcttcagaac
tggacagaggagtgtgacaatctctggtgggatgcattcacgactgagttctttgaggat
gatgccatgttgaccatcactttctgcctggaggatggaccaaagagatataccattggc
cggaccctgatcccacgctacttccgcagcatctttgaggggggtgctacggagctgtac
tatgttcttaagcaccccaaggaggcattccacagcaactttgtgtccctcgactgtgac
cagggcagcatggtgacccagcatggcaagcccatgttcacccaggtgtgtgtggagggc
cggttgtacctggagttcatgtttgacgacatgatgcggataaagacgtggcacttcagc
atccggcagcaccgagagctcatcccccgcagcatccttgccatgcatgcccaagacccc
cagatgttggatcagctctccaaaaacatcactcggtgtgggctgtccaattccactctc
aactacctccgactctgtgtgatactcgagcccatgcaagagctcatgtcacgccacaag
acctacagcctcagcccccgcgactgcctcaagacctgccttttccagaagtggcagcgc
atggtagcaccccctgcggagcccacacgtcagcagcccagcaaacggcggaaacggaag
atgtcagggggcagcaccatgagctctggtggtggcaacaccaacaacagcaacagcaag
aagaagagcccagctagcaccttcgccctctccagccaggtacctgatgtgatggtggtg
ggggagcccaccctgatgggcggggagttcggggacgaggacgagaggctcatcacccgg
ctggagaacacccagtttgacgcagccaacggcattgacgacgaggacagctttaacaac
tcccctgcactgggcgccaacagcccctggaacagcaagcctccgtccagccaagaaagc
aaatcggagaaccccacgtcacaggcctcccagtaa

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