EMSY - EMSY transcriptional repressor, BRCA2 interacting Gene
Also Known as GL002; C11orf30
Species: Homo sapiens
About EMSY
This gene has 19 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in testis (RPKM 4.2), ovary (RPKM 4.0) and 25 other tissues.
Summary
Predicted to enable identical protein binding activity. Predicted to be involved in DNA repair; chromatin organization; and regulation of transcription, DNA-templated. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
EMSY Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001300942.2 | NP_001287871.1 | BRCA2-interacting transcriptional repressor EMSY isoform 1 |
| NM_001300943.2 | NP_001287872.1 | BRCA2-interacting transcriptional repressor EMSY isoform 2 |
| NM_001300944.2 | NP_001287873.1 | BRCA2-interacting transcriptional repressor EMSY isoform 3 |
| NM_020193.5 | NP_064578.2 | BRCA2-interacting transcriptional repressor EMSY isoform 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16615912 | GOA |
EMSY Protein Structure
ENT: ENT domain (16 - 87)
- 0
- 300
- 600
- 900
- 1200
- 1322 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
BRCA2-interacting transcriptional repressor EMSY |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sporadic Breast Cancer |
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| Epiphyseal Dysplasia, Multiple, 2 |
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| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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| Esophagitis |
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| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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| Fallopian Tube Endometrioid Adenocarcinoma |
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| Ovarian Cancer |
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| Breast Cancer |
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| Esophagitis, Eosinophilic, 1 |
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| Hereditary Breast Ovarian Cancer Syndrome |
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| Fanconi Anemia, Complementation Group A |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | EMSY | MGD | MGI:1924203 |
| Macaca mulatta | EMSY | VGNC | VGNC:72065 |
| Rattus norvegicus | EMSY | RGD | RGD:1310712 |
| Bos taurus | EMSY | VGNC | VGNC:28484 |
| Canis familiaris | EMSY | VGNC | VGNC:40355 |
| Felis catus | EMSY | VGNC | VGNC:61854 |
| Others | EMSY | NCBI |