Property Summary

NCBI Gene PubMed Count 6
PubMed Score 0.33
PubTator Score 0.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Williams-Beuren syndrome 45 4.983 2.5

Expression

Synonym

Accession Q86UV7 Q8N0S3
Symbols TRIM50B

Gene

 GO Function (1)

 GO Component (1)

 Compartment GO Term (0)

Gene RIF (1)

PMID Text
18398435 Maps within the critical region of Williams-Beuren syndrome.

AA Sequence

MAWQVSLLELEDRLQCPICLEVFKESLMLQCGHSYCKGCLVSLSYHLDTKVRCPMCWQVVDGSSSLPNVS      1 - 70
LAWVIEALRLPGDPEPKVCVHHRNPLSLFCEKDQELICGLCGLLGSHQHHPVTPVSTVCSRMKEELAALF     71 - 140
SELKQEQKKVDELIAKLVKNRTRIVNESDVFSWVIRREFQELRHPVDEEKARCLEGIGGHTRGLVASLDM    141 - 210
QLEQAQGTRERLAQAECVLEQFGNEDHHEFIWKFHSMASR                                  211 - 250
//

Text Mined References (6)

PMID Year Title
18398435 2008 Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.