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

Gene ID: 56946, updated on 4-Jul-2021

Summary

Official Symbol
EMSYprovided by HGNC
Official Full Name
EMSY transcriptional repressor, BRCA2 interactingprovided by HGNC
Primary source
HGNC:HGNC:18071
See related
Ensembl:ENSG00000158636 MIM:608574
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
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Genomic context

See EMSY in Genome Data Viewer
Location:
11q13.5
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (76444928..76553031)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76156062..76264075)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene THAP domain containing 12 Neighboring gene GVQW motif containing 3 Neighboring gene Sharpr-MPRA regulatory region 9860 Neighboring gene long intergenic non-protein coding RNA 2757 Neighboring gene Sharpr-MPRA regulatory region 5087 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A common variant on chromosome 11q13 is associated with atopic dermatitis.
GeneReviews: Not available
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
GeneReviews: Not available
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
GeneReviews: Not available
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
GeneReviews: Not available
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
GeneReviews: Not available
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
GWAS identifies four novel eosinophilic esophagitis loci.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available

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
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
BRCA2-interacting transcriptional repressor EMSY
Names
EMSY, BRCA2 interacting transcriptional repressor
protein EMSY

NCBI Reference Sequences (RefSeq)

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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_001300942.2NP_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, AP002360, AP003165, BC033404, BC143374
    Consensus CDS
    CCDS73349.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000433205.1, ENST00000524767.5
    Conserved Domains (2) summary
    pfam03154
    Location:9581158
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  2. NM_001300943.2NP_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, AP002360, AP003165, BC033404, BC117265
    Consensus CDS
    CCDS73351.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000432010.1, ENST00000525919.5
    Conserved Domains (2) summary
    pfam03154
    Location:9441144
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1985
    ENT; ENT domain
  3. NM_001300944.2NP_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, AP002360, AP003165, BC033404, BC143370, BC143376
    Consensus CDS
    CCDS73350.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000436968.1, ENST00000525038.5
    Conserved Domains (2) summary
    pfam03154
    Location:9441144
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  4. NM_020193.5NP_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, AP002360, AP003165, BC033404, BC143374
    Consensus CDS
    CCDS8244.1
    UniProtKB/Swiss-Prot
    Q7Z589
    Related
    ENSP00000334130.3, ENST00000334736.7
    Conserved Domains (2) summary
    pfam03154
    Location:9431143
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1985
    ENT; ENT domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 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
    pfam03154
    Location:9741174
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  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
    pfam03154
    Location:9191119
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  4. XM_006718637.4XP_006718700.1  BRCA2-interacting transcriptional repressor EMSY isoform X9

    Related
    ENSP00000433634.1, 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
    pfam03154
    Location:9731173
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  6. XM_011545177.3XP_011543479.1  BRCA2-interacting transcriptional repressor EMSY isoform X5

    Conserved Domains (2) summary
    pfam03154
    Location:9231123
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  7. XM_005274112.5XP_005274169.1  BRCA2-interacting transcriptional repressor EMSY isoform X8

    Conserved Domains (2) summary
    pfam03154
    Location:8931093
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1981
    ENT; ENT domain
  8. XM_011545175.3XP_011543477.1  BRCA2-interacting transcriptional repressor EMSY isoform X3

    Conserved Domains (2) summary
    pfam03154
    Location:9601160
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1985
    ENT; ENT domain
  9. XM_006718638.4XP_006718701.1  BRCA2-interacting transcriptional repressor EMSY isoform X4

    Related
    ENSP00000431166.1, ENST00000524490.5
    Conserved Domains (2) summary
    pfam03154
    Location:9301130
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1985
    ENT; ENT domain
  10. XM_011545179.3XP_011543481.1  BRCA2-interacting transcriptional repressor EMSY isoform X7

    Conserved Domains (2) summary
    pfam03154
    Location:9091109
    Atrophin-1; Atrophin-1 family
    pfam03735
    Location:1985
    ENT; ENT domain
  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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