Human Gene LMO2 (ENST00000257818.3_7) from GENCODE V47lift37
  Description: LIM domain only 2, transcript variant 1 (from RefSeq NM_005574.4)
Gencode Transcript: ENST00000257818.3_7
Gencode Gene: ENSG00000135363.12_9
Transcript (Including UTRs)
   Position: hg19 chr11:33,880,122-33,913,623 Size: 33,502 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr11:33,880,902-33,891,262 Size: 10,361 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:33,880,122-33,913,623)mRNA (may differ from genome)Protein (227 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBTN2_HUMAN
DESCRIPTION: RecName: Full=Rhombotin-2; AltName: Full=Cysteine-rich protein TTG-2; AltName: Full=LIM domain only protein 2; Short=LMO-2; AltName: Full=T-cell translocation protein 2;
FUNCTION: Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state.
SUBUNIT: Interacts via its LIM domains with ELF2 and LBD1. Also interacts with basic helix-loop-helix protein TAL1/SCL and can assemble in a complex with LMO2 and TAL1/SCL (By similarity). Interacts with BEX2 and KDM5A.
INTERACTION: Q04206:RELA; NbExp=3; IntAct=EBI-739696, EBI-73886;
SUBCELLULAR LOCATION: Nucleus (Potential).
DOMAIN: The second LIM zinc-binding domain interacts with KDM5A.
DISEASE: Note=A chromosomal aberration involving LMO2 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(11,14)(p13;q11) with TCRD.
SIMILARITY: Contains 2 LIM zinc-binding domains.
SEQUENCE CAUTION: Sequence=AAF98804.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAH73973.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAA43430.1; Type=Frameshift; Positions=Several;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RBTN2ID34.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LMO2
Diseases sorted by gene-association score: lymphoblastic leukemia (9), t-cell leukemia (5), acute t cell leukemia (4), diffuse large b-cell lymphoma (3), leukemia, acute lymphoblastic (2), combined t cell and b cell immunodeficiency (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.03 RPKM in Spleen
Total median expression: 402.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -250.60617-0.406 Picture PostScript Text
3' UTR -220.00780-0.282 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001781 - Znf_LIM

Pfam Domains:
PF00412 - LIM domain

SCOP Domains:
57716 - Glucocorticoid receptor-like (DNA-binding domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2XJY - X-ray 2XJZ - X-ray


ModBase Predicted Comparative 3D Structure on P25791
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0005515 protein binding
GO:0043425 bHLH transcription factor binding
GO:0046872 metal ion binding
GO:0048037 cofactor binding
GO:0070888 E-box binding

Biological Process:
GO:0007275 multicellular organism development
GO:0042789 mRNA transcription from RNA polymerase II promoter
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0097067 cellular response to thyroid hormone stimulus
GO:1902036 regulation of hematopoietic stem cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AF257211 - Homo sapiens LMO2b splice variant (LMO2) mRNA, complete cds.
BC073973 - Homo sapiens LIM domain only 2 (rhombotin-like 1), mRNA (cDNA clone MGC:87978 IMAGE:5734404), complete cds.
BC035607 - Homo sapiens LIM domain only 2 (rhombotin-like 1), mRNA (cDNA clone MGC:45171 IMAGE:5186480), complete cds.
BC042426 - Homo sapiens LIM domain only 2 (rhombotin-like 1), mRNA (cDNA clone MGC:34396 IMAGE:5188482), complete cds.
BC034041 - Homo sapiens LIM domain only 2 (rhombotin-like 1), mRNA (cDNA clone MGC:26525 IMAGE:4796599), complete cds.
X61118 - Human TTG-2 mRNA for a cysteine rich protein with LIM motif.
AK127915 - Homo sapiens cDNA FLJ46022 fis, clone SPLEN2021983, highly similar to Rhombotin-2.
JD379027 - Sequence 360051 from Patent EP1572962.
JD210353 - Sequence 191377 from Patent EP1572962.
JD358722 - Sequence 339746 from Patent EP1572962.
JD534187 - Sequence 515211 from Patent EP1572962.
JD199074 - Sequence 180098 from Patent EP1572962.
JD261439 - Sequence 242463 from Patent EP1572962.
DQ892333 - Synthetic construct clone IMAGE:100004963; FLH185418.01X; RZPDo839A12148D LIM domain only 2 (rhombotin-like 1) (LMO2) gene, encodes complete protein.
CU687280 - Synthetic construct Homo sapiens gateway clone IMAGE:100022911 5' read LMO2 mRNA.
CU692080 - Synthetic construct Homo sapiens gateway clone IMAGE:100021036 5' read LMO2 mRNA.
KJ897137 - Synthetic construct Homo sapiens clone ccsbBroadEn_06531 LMO2 gene, encodes complete protein.
KJ897138 - Synthetic construct Homo sapiens clone ccsbBroadEn_06532 LMO2 gene, encodes complete protein.
KJ905821 - Synthetic construct Homo sapiens clone ccsbBroadEn_15491 LMO2 gene, encodes complete protein.
DQ895538 - Synthetic construct Homo sapiens clone IMAGE:100009998; FLH185414.01L; RZPDo839A12147D LIM domain only 2 (rhombotin-like 1) (LMO2) gene, encodes complete protein.
AB463835 - Synthetic construct DNA, clone: pF1KB5166, Homo sapiens LMO2 gene for LIM domain only 2, without stop codon, in Flexi system.
JD471718 - Sequence 452742 from Patent EP1572962.
JD476004 - Sequence 457028 from Patent EP1572962.
JD461814 - Sequence 442838 from Patent EP1572962.
JD405800 - Sequence 386824 from Patent EP1572962.
JD518866 - Sequence 499890 from Patent EP1572962.
JD163681 - Sequence 144705 from Patent EP1572962.
JD465348 - Sequence 446372 from Patent EP1572962.
JD217271 - Sequence 198295 from Patent EP1572962.
JD387526 - Sequence 368550 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P25791 (Reactome details) participates in the following event(s):

R-HSA-8956568 RUNX1 binds the core TAL1 complex
R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000257818.1, ENST00000257818.2, NM_005574, P25791, Q9HD58, RBTN2, RBTN2_HUMAN, RBTNL1, RHOM2, TTG2, uc317fzm.1, uc317fzm.2
UCSC ID: ENST00000257818.3_7
RefSeq Accession: NM_005574.4
Protein: P25791 (aka RBTN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.