C11orf30

EMSY
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases EMSY, GL002, C11orf30, BRCA2 interacting transcriptional repressor
External IDs MGI: 1924203 HomoloGene: 32465 GeneCards: EMSY
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

56946

233545

Ensembl

ENSG00000158636

ENSMUSG00000035401

UniProt

Q7Z589

Q8BMB0

RefSeq (mRNA)

NM_001300942
NM_001300943
NM_001300944
NM_020193

NM_172280

RefSeq (protein)

NP_001287871.1
NP_001287872.1
NP_001287873.1
NP_064578.2

NP_758484.2

Location (UCSC) Chr 11: 76.44 – 76.55 Mb Chr 7: 98.59 – 98.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Protein EMSY is a protein that in humans is encoded by the C11orf30 gene.[3]

Clinical significance

C11orf30 has been shown to associate with atopy and susceptibility to poly-sensitisation.[4]

Interactions

C11orf30 has been shown to interact with ZMYND11,[5] BRCA2[5] and CBX1.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
  4. Amaral, A. F. S.; Minelli, C.; Guerra, S.; Wjst, M.; Probst-Hensch, N.; Pin, I.; Svanes, C.; Janson, C.; Heinrich, J.; Jarvis, D. L. (March 2015). "The locus C11orf30 increases susceptibility to poly-sensitization". Allergy. 70 (3): 328–333. doi:10.1111/all.12557.
  5. 1 2 3 Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/S0092-8674(03)00930-9. PMID 14651845.

Further reading


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