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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04362	EMSY Human Pre-designed siRNA Set A		/	Unkown

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