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

    Gene ID: 56946, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:18071
    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
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in DNA repair; chromatin organization; and regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.2), ovary (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EMSY in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (76445018..76553031)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76374728..76482726)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76156062..76264075)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76091381-76091882 Neighboring gene GVQW motif containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155067-76155702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76155703-76156339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5291 Neighboring gene Sharpr-MPRA regulatory region 9860 Neighboring gene EMSY divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76253613-76254812 Neighboring gene NANOG hESC enhancer GRCh37_chr11:76264142-76264692 Neighboring gene NANOG hESC enhancer GRCh37_chr11:76265528-76266029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76290085-76290777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76300657-76301329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76308371-76309022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76314807-76315308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76319836-76320534 Neighboring gene long intergenic non-protein coding RNA 2757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5292 Neighboring gene Sharpr-MPRA regulatory region 5087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76364813-76365336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3786 Neighboring gene leucine rich repeat containing 32

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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)

    NEW Try the new Transcript table

    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/TrEMBL
      E9PMC9
      Related
      ENSP00000511840.1, ENST00000695367.1
      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/TrEMBL
      E9PMC9
      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/TrEMBL
      E9PMC9
      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
      B7ZKT8, B7ZKU0, B7ZKU2, Q17RM7, Q4G109, Q7Z589, Q8NBU6, Q8TE50, Q9H8I9, Q9NRH0
      UniProtKB/TrEMBL
      E9PMC9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      76445018..76553031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427269.1XP_047283225.1  BRCA2-interacting transcriptional repressor EMSY isoform X3

    2. XM_047427298.1XP_047283254.1  BRCA2-interacting transcriptional repressor EMSY isoform X34

    3. XM_047427310.1XP_047283266.1  BRCA2-interacting transcriptional repressor EMSY isoform X46

    4. XM_047427273.1XP_047283229.1  BRCA2-interacting transcriptional repressor EMSY isoform X7

    5. XM_047427300.1XP_047283256.1  BRCA2-interacting transcriptional repressor EMSY isoform X36

    6. XM_047427277.1XP_047283233.1  BRCA2-interacting transcriptional repressor EMSY isoform X11

    7. XM_047427282.1XP_047283238.1  BRCA2-interacting transcriptional repressor EMSY isoform X17

    8. XM_047427297.1XP_047283253.1  BRCA2-interacting transcriptional repressor EMSY isoform X33

    9. XM_006718637.5XP_006718700.1  BRCA2-interacting transcriptional repressor EMSY isoform X29

      UniProtKB/TrEMBL
      E9PMC9
      Conserved Domains (1) summary
      pfam03735
      Location:1981
      ENT; ENT domain
    10. XM_047427267.1XP_047283223.1  BRCA2-interacting transcriptional repressor EMSY isoform X1

    11. XM_047427268.1XP_047283224.1  BRCA2-interacting transcriptional repressor EMSY isoform X2

    12. XM_047427278.1XP_047283234.1  BRCA2-interacting transcriptional repressor EMSY isoform X12

    13. XM_047427284.1XP_047283240.1  BRCA2-interacting transcriptional repressor EMSY isoform X19

    14. XM_047427294.1XP_047283250.1  BRCA2-interacting transcriptional repressor EMSY isoform X30

      Related
      ENSP00000433634.1, ENST00000533248.5
    15. XM_047427280.1XP_047283236.1  BRCA2-interacting transcriptional repressor EMSY isoform X15

    16. XM_047427276.1XP_047283232.1  BRCA2-interacting transcriptional repressor EMSY isoform X10

    17. XM_047427304.1XP_047283260.1  BRCA2-interacting transcriptional repressor EMSY isoform X40

    18. XM_005274112.6XP_005274169.1  BRCA2-interacting transcriptional repressor EMSY isoform X14

      UniProtKB/TrEMBL
      E9PMC9
      Conserved Domains (2) summary
      pfam03154
      Location:8931093
      Atrophin-1; Atrophin-1 family
      pfam03735
      Location:1981
      ENT; ENT domain
    19. XM_047427306.1XP_047283262.1  BRCA2-interacting transcriptional repressor EMSY isoform X42

    20. XM_047427291.1XP_047283247.1  BRCA2-interacting transcriptional repressor EMSY isoform X26

    21. XM_047427293.1XP_047283249.1  BRCA2-interacting transcriptional repressor EMSY isoform X28

    22. XM_047427272.1XP_047283228.1  BRCA2-interacting transcriptional repressor EMSY isoform X6

    23. XM_047427299.1XP_047283255.1  BRCA2-interacting transcriptional repressor EMSY isoform X35

    24. XM_047427275.1XP_047283231.1  BRCA2-interacting transcriptional repressor EMSY isoform X9

    25. XM_006718638.5XP_006718701.1  BRCA2-interacting transcriptional repressor EMSY isoform X4

      UniProtKB/TrEMBL
      E9PMC9
      Related
      ENSP00000431166.1, ENST00000524490.5
      Conserved Domains (2) summary
      pfam03154
      Location:9301130
      Atrophin-1; Atrophin-1 family
      pfam03735
      Location:1985
      ENT; ENT domain
    26. XM_047427302.1XP_047283258.1  BRCA2-interacting transcriptional repressor EMSY isoform X38

    27. XM_047427289.1XP_047283245.1  BRCA2-interacting transcriptional repressor EMSY isoform X24

    28. XM_047427281.1XP_047283237.1  BRCA2-interacting transcriptional repressor EMSY isoform X16

    29. XM_047427307.1XP_047283263.1  BRCA2-interacting transcriptional repressor EMSY isoform X43

    30. XM_047427287.1XP_047283243.1  BRCA2-interacting transcriptional repressor EMSY isoform X22

    31. XM_047427296.1XP_047283252.1  BRCA2-interacting transcriptional repressor EMSY isoform X32

    32. XM_047427274.1XP_047283230.1  BRCA2-interacting transcriptional repressor EMSY isoform X8

    33. XM_047427301.1XP_047283257.1  BRCA2-interacting transcriptional repressor EMSY isoform X37

    34. XM_047427271.1XP_047283227.1  BRCA2-interacting transcriptional repressor EMSY isoform X5

    35. XM_047427303.1XP_047283259.1  BRCA2-interacting transcriptional repressor EMSY isoform X39

    36. XM_047427283.1XP_047283239.1  BRCA2-interacting transcriptional repressor EMSY isoform X18

    37. XM_047427288.1XP_047283244.1  BRCA2-interacting transcriptional repressor EMSY isoform X23

    38. XM_047427286.1XP_047283242.1  BRCA2-interacting transcriptional repressor EMSY isoform X21

    39. XM_047427279.1XP_047283235.1  BRCA2-interacting transcriptional repressor EMSY isoform X13

    40. XM_047427305.1XP_047283261.1  BRCA2-interacting transcriptional repressor EMSY isoform X41

    41. XM_047427290.1XP_047283246.1  BRCA2-interacting transcriptional repressor EMSY isoform X25

    42. XM_047427285.1XP_047283241.1  BRCA2-interacting transcriptional repressor EMSY isoform X20

    43. XM_047427292.1XP_047283248.1  BRCA2-interacting transcriptional repressor EMSY isoform X27

    44. XM_047427295.1XP_047283251.1  BRCA2-interacting transcriptional repressor EMSY isoform X31

    45. XM_047427308.1XP_047283264.1  BRCA2-interacting transcriptional repressor EMSY isoform X44

    46. XM_047427309.1XP_047283265.1  BRCA2-interacting transcriptional repressor EMSY isoform X45

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      76374728..76482726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369389.1XP_054225364.1  BRCA2-interacting transcriptional repressor EMSY isoform X3

    2. XM_054369421.1XP_054225396.1  BRCA2-interacting transcriptional repressor EMSY isoform X34

    3. XM_054369431.1XP_054225406.1  BRCA2-interacting transcriptional repressor EMSY isoform X46

    4. XM_054369393.1XP_054225368.1  BRCA2-interacting transcriptional repressor EMSY isoform X7

    5. XM_054369423.1XP_054225398.1  BRCA2-interacting transcriptional repressor EMSY isoform X36

    6. XM_054369397.1XP_054225372.1  BRCA2-interacting transcriptional repressor EMSY isoform X11

    7. XM_054369432.1XP_054225407.1  BRCA2-interacting transcriptional repressor EMSY isoform X48

    8. XM_054369403.1XP_054225378.1  BRCA2-interacting transcriptional repressor EMSY isoform X17

    9. XM_054369420.1XP_054225395.1  BRCA2-interacting transcriptional repressor EMSY isoform X33

    10. XM_054369415.1XP_054225390.1  BRCA2-interacting transcriptional repressor EMSY isoform X29

    11. XM_054369387.1XP_054225362.1  BRCA2-interacting transcriptional repressor EMSY isoform X1

    12. XM_054369388.1XP_054225363.1  BRCA2-interacting transcriptional repressor EMSY isoform X2

    13. XM_054369398.1XP_054225373.1  BRCA2-interacting transcriptional repressor EMSY isoform X12

    14. XM_054369405.1XP_054225380.1  BRCA2-interacting transcriptional repressor EMSY isoform X19

    15. XM_054369416.1XP_054225391.1  BRCA2-interacting transcriptional repressor EMSY isoform X30

    16. XM_054369401.1XP_054225376.1  BRCA2-interacting transcriptional repressor EMSY isoform X15

    17. XM_054369396.1XP_054225371.1  BRCA2-interacting transcriptional repressor EMSY isoform X10

    18. XM_054369427.1XP_054225402.1  BRCA2-interacting transcriptional repressor EMSY isoform X40

    19. XM_054369400.1XP_054225375.1  BRCA2-interacting transcriptional repressor EMSY isoform X14

    20. XM_054369429.1XP_054225404.1  BRCA2-interacting transcriptional repressor EMSY isoform X42

    21. XM_054369412.1XP_054225387.1  BRCA2-interacting transcriptional repressor EMSY isoform X26

    22. XM_054369414.1XP_054225389.1  BRCA2-interacting transcriptional repressor EMSY isoform X28

    23. XM_054369392.1XP_054225367.1  BRCA2-interacting transcriptional repressor EMSY isoform X6

    24. XM_054369422.1XP_054225397.1  BRCA2-interacting transcriptional repressor EMSY isoform X35

    25. XM_054369395.1XP_054225370.1  BRCA2-interacting transcriptional repressor EMSY isoform X9

    26. XM_054369390.1XP_054225365.1  BRCA2-interacting transcriptional repressor EMSY isoform X4

    27. XM_054369425.1XP_054225400.1  BRCA2-interacting transcriptional repressor EMSY isoform X38

    28. XM_054369410.1XP_054225385.1  BRCA2-interacting transcriptional repressor EMSY isoform X24

    29. XM_054369402.1XP_054225377.1  BRCA2-interacting transcriptional repressor EMSY isoform X16

    30. XM_054369430.1XP_054225405.1  BRCA2-interacting transcriptional repressor EMSY isoform X43

    31. XM_054369408.1XP_054225383.1  BRCA2-interacting transcriptional repressor EMSY isoform X22

    32. XM_054369418.1XP_054225393.1  BRCA2-interacting transcriptional repressor EMSY isoform X32

    33. XM_054369394.1XP_054225369.1  BRCA2-interacting transcriptional repressor EMSY isoform X8

    34. XM_054369424.1XP_054225399.1  BRCA2-interacting transcriptional repressor EMSY isoform X37

    35. XM_054369391.1XP_054225366.1  BRCA2-interacting transcriptional repressor EMSY isoform X5

    36. XM_054369426.1XP_054225401.1  BRCA2-interacting transcriptional repressor EMSY isoform X39

    37. XM_054369404.1XP_054225379.1  BRCA2-interacting transcriptional repressor EMSY isoform X18

    38. XM_054369409.1XP_054225384.1  BRCA2-interacting transcriptional repressor EMSY isoform X23

    39. XM_054369419.1XP_054225394.1  BRCA2-interacting transcriptional repressor EMSY isoform X47

    40. XM_054369407.1XP_054225382.1  BRCA2-interacting transcriptional repressor EMSY isoform X21

    41. XM_054369399.1XP_054225374.1  BRCA2-interacting transcriptional repressor EMSY isoform X13

    42. XM_054369428.1XP_054225403.1  BRCA2-interacting transcriptional repressor EMSY isoform X41

    43. XM_054369411.1XP_054225386.1  BRCA2-interacting transcriptional repressor EMSY isoform X25

    44. XM_054369406.1XP_054225381.1  BRCA2-interacting transcriptional repressor EMSY isoform X20

    45. XM_054369413.1XP_054225388.1  BRCA2-interacting transcriptional repressor EMSY isoform X27

    46. XM_054369417.1XP_054225392.1  BRCA2-interacting transcriptional repressor EMSY isoform X31