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LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]
LMO2 (LIM Domain Only 2) is a Protein Coding gene. Diseases associated with LMO2 include T-Cell Acute Lymphoblastic Leukemia and Severe Combined Immunodeficiency, X-Linked. Among its related pathways are Transcriptional misregulation in cancer and Hematopoietic Stem Cell Differentiation. Gene Ontology (GO) annotations related to this gene include chromatin binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is LMO1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 16314316 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA | 16314316 |
GO:0001102 | RNA polymerase II activating transcription factor binding | IPI | 16314316 |
GO:0001221 | transcription cofactor binding | IPI | 16314316 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 16314316 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IDA | 16314316 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional misregulation in cancer | ||
2 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
3 | Hematopoietic Stem Cell Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | TAS | 1923511 |
GO:0042789 | mRNA transcription by RNA polymerase II | IDA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 16314316 |
GO:0097067 | cellular response to thyroid hormone stimulus | IDA | 19375645 |
GO:1902036 | regulation of hematopoietic stem cell differentiation | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | LMO2 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | LMO2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LMO2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lmo2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lmo2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | LOC609006 30 |
|
||
LMO2 31 |
|
OneToOne | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LMO2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LMO2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LMO2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lmo2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | lmo2-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lmo2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
771440 | Benign: not provided | 33,859,497(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1115754 | CNV | insertion | 17803354 |
nsv1069574 | CNV | deletion | 25765185 |
nsv1118207 | CNV | deletion | 24896259 |
nsv1147622 | CNV | insertion | 26484159 |
nsv509398 | CNV | insertion | 20534489 |
nsv519717 | CNV | loss | 19592680 |
nsv526555 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
t-cell acute lymphoblastic leukemia |
|
|
severe combined immunodeficiency, x-linked |
|
|
lymphoblastic lymphoma |
|
|
ureteral lymphoma |
|
|
t-cell lymphoblastic leukemia/lymphoma |
|