C11ORF30 (chromosome 11 open reading frame 30)

Identity

Other names	EMSY
	GL002
	ENT0
Hugo	C11ORF30
Location	11q13.5
Local_order	CCND1 is also at 11q13

DNA/RNA

Description	The gene spans 107 kb; on direct strand
Transcription	at least 11 transcripts; one transcript of 4kb and 21 exons encodes a protein of 1323 amino acids and 141 kDa.

Protein

Localisation	nucleus
Function	binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2

Implicated in

Entity	C11ORF30/EMSY was found amplified in 7 and 17 % of cases respectively of sporadic breast cancers and high grade ovarian cancers, but very rarely in other cancers tested.
Note	11q13 is frequently amplified in sporadic breast cancers; CCND1, in particular, is amplified in about 20% of cases. However, C11ORF30/EMSY was found amplified in cases with normal CCND1: they are independant factors.
Prognosis	C11ORF30/EMSY amplification is associated with a worse prognosis in node-negative breast cancers, and has no prgnosis implication in node-positive breast cancers.

External links

	Nomenclature
Hugo	C11orf30
GDB	C11orf30
Entrez_Gene	C11orf30  56946  chromosome 11 open reading frame 30
	Cards
Atlas	C11ORF30ID173
GeneCards	C11orf30
Ensembl	C11orf30 [Search_View]   ENSG00000158636 [Gene_View]
Genatlas	C11orf30
GeneLynx	C11orf30
eGenome	C11orf30
euGene	56946
	Genomic and cartography
GoldenPath	C11orf30  -  11q13.5   chr11:75833717-75940236 +  11q13.5   [Description]    (hg18-Mar_2006)
Ensembl	C11orf30 - 11q13.5 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	C11orf30
	Gene and transcription
Genbank	AF226047 [ ENTREZ ]
Genbank	AJ430203 [ ENTREZ ]
Genbank	AK023651 [ ENTREZ ]
Genbank	AK125114 [ ENTREZ ]
Genbank	AK126030 [ ENTREZ ]
RefSeq	NM_020193 [ SRS ]    NM_020193 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033927 [ SRS ]    NT_033927 [ ENTREZ ]
RefSeq	NW_925106 [ SRS ]    NW_925106 [ ENTREZ ]
AceView	C11orf30 AceView - NCBI
Unigene	Hs.352588 [ SRS ]    Hs.352588 [ NCBI ]     HS352588 [ spliceNest ]
Fast-db	12045 (alternative variants)
	Protein : pattern, domain, 3D structure
HPRD	10544
	Protein Interaction databases
	Polymorphism : SNP, mutations, diseases
OMIM	608573    [ map ]
GENECLINICS	608573
SNP	C11orf30 [dbSNP-NCBI]
SNP	NM_020193 [SNP-NCI]
SNP	C11orf30 [GeneSNPs - Utah]  C11orf30] [HGBASE - SRS]
HAPMAP	C11orf30 [HAPMAP]
COSMIC	C11orf30 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	C11orf30
	General knowledge
Family Browser	C11orf30 [UCSC Family Browser]
SOURCE	NM_020193
SMD	Hs.352588
SAGE	Hs.352588
GO	nucleus [Amigo]  nucleus
GO	DNA repair [Amigo]  DNA repair
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	chromatin modification [Amigo]  chromatin modification
PubGene	C11orf30
TreeFam	C11orf30
CTD	56946 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	C11ORF30 Related clones (RZPD - Berlin)
	PubMed
PubMed	12 Pubmed reference(s) in LocusLink

Bibliography

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.

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

Cell. 2003 ; 115 (5) : 523-535.

PMID 14651845

EMSY, a BRCA-2 partner in crime.

Livingston DM

Nature medicine. 2004 ; 10 (2) : 127-128.

PMID 14760417

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	05-2004	Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :

Huret JL, Senon S . C11ORF30 (chromosome 11 open reading frame 30). Atlas Genet Cytogenet Oncol Haematol. May 2004 . URL : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:22:22 2008