1. Gene
  2. EMSY - EMSY transcriptional repressor, BRCA2 interacting Gene

EMSY - EMSY transcriptional repressor, BRCA2 interacting Gene

Homo sapiens

Also known as GL002; C11orf30

Gene ID: 56946 | Gene type: protein coding

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

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

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