EMSY - EMSY transcriptional repressor, BRCA2 interacting Gene

Also Known as GL002; C11orf30

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56946

About EMSY

Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38): 11:76,445,018-76,553,031 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMSY Protein Structure

ENT

ENT: ENT domain (16 - 87)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1322 a.a.
Protein Preferred Names Protein Names

BRCA2-interacting transcriptional repressor EMSY

  • EMSY, BRCA2 interacting transcriptional repressor

EMSY Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EMSY Q7Z589 ZNF646 Homo sapiens O15015 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Sporadic Breast Cancer
  • Sporadic Breast Carcinoma

Epiphyseal Dysplasia, Multiple, 2
  • EDM2

  • Multiple Epiphyseal Dysplasia 2

  • Dysplasia, Epiphyseal, Multiple, Type 2

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Esophagitis
  • Acute Esophagitis

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
  • Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

  • KFSD

Fallopian Tube Endometrioid Adenocarcinoma
  • Endometrioid Carcinoma Of The Fallopian Tube

  • Fallopian Tube Endometrioid Cancer

  • Fallopian Tube Endometrioid Neoplasm

  • Fallopian Tube Endometrioid Tumor

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Esophagitis, Eosinophilic, 1
  • Eosinophilic Esophagitis

  • EOE1

  • Esophagitis, Eosinophilic

  • Ee

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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