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EMSY EMSY, BRCA2 interacting transcriptional repressor [ Homo sapiens (human) ]

Gene ID: 56946, updated on 9-Sep-2018

Summary

Official Symbol
EMSYprovided by HGNC
Official Full Name
EMSY, BRCA2 interacting transcriptional repressorprovided by HGNC
Primary source
HGNC:HGNC:18071
See related
Ensembl:ENSG00000158636 MIM:608574; Vega:OTTHUMG00000165282
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GL002; C11orf30
Expression
Ubiquitous expression in testis (RPKM 4.2), ovary (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See EMSY in Genome Data Viewer
Location:
11q13.5
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (76444928..76553031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76155967..76263943)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene THAP domain containing 12 Neighboring gene GVQW motif containing 3 Neighboring gene uncharacterized LOC101928813 Neighboring gene uncharacterized LOC107984360 Neighboring gene leucine rich repeat containing 32

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A common variant on chromosome 11q13 is associated with atopic dermatitis.
NHGRI GWA Catalog
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
NHGRI GWA Catalog
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
NHGRI GWA Catalog
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
NHGRI GWA Catalog
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
NHGRI GWA Catalog
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
GWAS identifies four novel eosinophilic esophagitis loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90741

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
BRCA2-interacting transcriptional repressor EMSY
Names
protein EMSY

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300942.1NP_001287871.1  BRCA2-interacting transcriptional repressor EMSY isoform 1

    See identical proteins and their annotated locations for NP_001287871.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI275430, AP003165, BC033404, BC143374
    Consensus CDS
    CCDS73349.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000433205.1, OTTHUMP00000229239, ENST00000524767.5, OTTHUMT00000383203
    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9601126
    PAT1; Topoisomerase II-associated protein PAT1
  2. NM_001300943.1NP_001287872.1  BRCA2-interacting transcriptional repressor EMSY isoform 2

    See identical proteins and their annotated locations for NP_001287872.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI275430, AP003165, BC033404, BC117265
    Consensus CDS
    CCDS73351.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000432010.1, OTTHUMP00000229242, ENST00000525919.5, OTTHUMT00000383206
    Conserved Domains (2) summary
    pfam03735
    Location:1985
    ENT; ENT domain
    cl25764
    Location:9461112
    PAT1; Topoisomerase II-associated protein PAT1
  3. NM_001300944.1NP_001287873.1  BRCA2-interacting transcriptional repressor EMSY isoform 3

    See identical proteins and their annotated locations for NP_001287873.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI275430, AP003165, BC033404, BC143370, BC143376
    Consensus CDS
    CCDS73350.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000436968.1, OTTHUMP00000229241, ENST00000525038.5, OTTHUMT00000383205
    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9461112
    PAT1; Topoisomerase II-associated protein PAT1
  4. NM_020193.4NP_064578.2  BRCA2-interacting transcriptional repressor EMSY isoform 4

    See identical proteins and their annotated locations for NP_064578.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' end and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI275430, AJ430203, AP003165, BC033404, BC143374
    Consensus CDS
    CCDS8244.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000334130.3, ENST00000334736.7
    Conserved Domains (2) summary
    pfam03735
    Location:1985
    ENT; ENT domain
    cl25764
    Location:9451111
    PAT1; Topoisomerase II-associated protein PAT1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    76444928..76553031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545173.3XP_011543475.1  BRCA2-interacting transcriptional repressor EMSY isoform X1

    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9761142
    PAT1; Topoisomerase II-associated protein PAT1
  2. XM_017018021.2XP_016873510.1  BRCA2-interacting transcriptional repressor EMSY isoform X10

  3. XM_011545178.3XP_011543480.1  BRCA2-interacting transcriptional repressor EMSY isoform X6

    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9211087
    PAT1; Topoisomerase II-associated protein PAT1
  4. XM_006718637.4XP_006718700.1  BRCA2-interacting transcriptional repressor EMSY isoform X9

    Related
    ENSP00000433634.1, OTTHUMP00000229240, ENST00000533248.5
    Conserved Domains (1) summary
    pfam03735
    Location:1981
    ENT; ENT domain
  5. XM_011545174.3XP_011543476.1  BRCA2-interacting transcriptional repressor EMSY isoform X2

    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9751141
    PAT1; Topoisomerase II-associated protein PAT1
  6. XM_011545177.3XP_011543479.1  BRCA2-interacting transcriptional repressor EMSY isoform X5

    Conserved Domains (2) summary
    pfam03735
    Location:1981
    ENT; ENT domain
    cl25764
    Location:9251091
    PAT1; Topoisomerase II-associated protein PAT1
  7. XM_005274112.5XP_005274169.1  BRCA2-interacting transcriptional repressor EMSY isoform X8

    Conserved Domains (1) summary
    pfam03735
    Location:1981
    ENT; ENT domain
  8. XM_011545175.3XP_011543477.1  BRCA2-interacting transcriptional repressor EMSY isoform X3

    Conserved Domains (2) summary
    pfam03735
    Location:1985
    ENT; ENT domain
    cl25764
    Location:9621128
    PAT1; Topoisomerase II-associated protein PAT1
  9. XM_006718638.4XP_006718701.1  BRCA2-interacting transcriptional repressor EMSY isoform X4

    Related
    ENSP00000431166.1, OTTHUMP00000229238, ENST00000524490.5
    Conserved Domains (1) summary
    pfam03735
    Location:1985
    ENT; ENT domain
  10. XM_011545179.3XP_011543481.1  BRCA2-interacting transcriptional repressor EMSY isoform X7

    Conserved Domains (2) summary
    pfam03735
    Location:1985
    ENT; ENT domain
    cl25764
    Location:9111077
    PAT1; Topoisomerase II-associated protein PAT1
  11. XM_006718639.4XP_006718702.1  BRCA2-interacting transcriptional repressor EMSY isoform X12

    Conserved Domains (1) summary
    pfam03735
    Location:1985
    ENT; ENT domain
  12. XM_017018022.2XP_016873511.1  BRCA2-interacting transcriptional repressor EMSY isoform X11

RNA

  1. XR_949996.3 RNA Sequence

  2. XR_949997.3 RNA Sequence

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