EML4 - EMAP like 4 Gene
Also Known as C2orf2; ELP120; EMAP-4; EMAPL4; ROPP120
Species: Homo sapiens
About EML4
This gene has 8 transcripts (splice variants), 212 orthologues, 9 paralogues and is associated with 96 phenotypes. Ubiquitous expression in appendix (RPKM 24.1), duodenum (RPKM 22.4) and 25 other tissues.
Summary
This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung Cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
EML4 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145076.3 | NP_001138548.2 | echinoderm microtubule-associated protein-like 4 isoform b |
| NM_001410776.1 | NP_001397705.1 | echinoderm microtubule-associated protein-like 4 isoform c |
| NM_019063.5 | NP_061936.3 | echinoderm microtubule-associated protein-like 4 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables alpha-tubulin binding |
IDA
IDA: Inferred from direct assay
|
31409757 | GOA |
| enables beta-tubulin binding |
IDA
IDA: Inferred from direct assay
|
31409757 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25789526 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in attachment of spindle microtubules to kinetochore |
IMP
IMP: Inferred from mutant phenotype
|
25789526 | GOA |
| involved in mitotic metaphase chromosome alignment |
IMP
IMP: Inferred from mutant phenotype
|
25789526 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16890222 | GOA |
| located in microtubule |
IDA
IDA: Inferred from direct assay
|
16890222 | GOA |
| located in microtubule organizing center |
IDA
IDA: Inferred from direct assay
|
16890222 | GOA |
| located in midbody |
IDA
IDA: Inferred from direct assay
|
25789526 | GOA |
| located in mitotic spindle |
IDA
IDA: Inferred from direct assay
|
16890222 | GOA |
EML4 Protein Structure
HELP: HELP motif (223 - 298)
WD40: WD domain, G-beta repeat (303 - 327)
WD40: WD domain, G-beta repeat (588 - 620)
WD40: WD domain, G-beta repeat (717 - 749)
WD40: WD domain, G-beta repeat (826 - 863)
- 0
- 200
- 400
- 600
- 800
- 981 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
echinoderm microtubule-associated protein-like 4 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Lymphoma |
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| Lung Cancer |
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| Signet Ring Lung Adenocarcinoma |
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| Nephroma |
|
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| Inflammatory Myofibroblastic Tumor |
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| Anaplastic Large Cell Lymphoma |
|
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| Lung Combined Large Cell Neuroendocrine Carcinoma |
|
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| Lung Non-Squamous Non-Small Cell Carcinoma |
|
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| Mesenchymal Cell Neoplasm |
|
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| Congenital Fibrosarcoma |
|
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| Childhood Fibrosarcoma |
|
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| Epithelioid Inflammatory Myofibroblastic Sarcoma |
|
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| Pulmonary Adenocarcinoma In Situ |
|
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| Occipital Lobe Neoplasm |
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| Lung Sarcomatoid Carcinoma |
|
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| Congenital Mesoblastic Nephroma |
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| Lung Carcinoma In Situ |
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| Pleomorphic Carcinoma |
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| Thyroid Gland Hurthle Cell Carcinoma |
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| Lung Large Cell Carcinoma |
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| Large Cell Carcinoma |
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| Fibrolamellar Carcinoma |
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| Gastrointestinal Stromal Tumor |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | EML4 | MGD | MGI:1926048 |
| Felis catus | EML4 | VGNC | VGNC:61851 |
| Macaca mulatta | EML4 | VGNC | VGNC:72037 |
| Bos taurus | EML4 | VGNC | VGNC:28478 |
| Rattus norvegicus | EML4 | RGD | RGD:1304690 |
| Canis familiaris | EML4 | VGNC | VGNC:40349 |
| Others | EML4 | NCBI |