Property Summary

NCBI Gene PubMed Count 6
PubMed Score 1.20
PubTator Score 1.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Disease Z-score Confidence
Leprosy 77 5.029 2.5
Polydactyly 93 3.073 1.5

Expression

Gene RIF (3)

PMID Text
25367361 Association between leprosy and tag SNPs at NOD2 (rs8057431) and CCDC122-LACC1 (rs4942254).
20018961 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 7 (according to mRNA AK056408) is discussed

AA Sequence

MSDNKERKSQGFPKEDNQDTSSLADAVEKVAKQQQSQASEIEKNKKVLFNLKNELHELEKEIAAISAETK      1 - 70
ETERQIYQQDSAIENTKLHCDSLETQIKSLHSENVKLKFDIETAQEDFEEHMIKYNAYYAKIKAHKNSLG     71 - 140
EVESKWSFMTELHEKRDFVKKLKTMKEELMQDLQNPGGNRITQVQEDITNLKDKIITVKESIIEKTCFLE    141 - 210
EEKKTHEKLRKEIEVQHKRYDAILKRLHCQVNKLQSNRRQWQWNIQQLEKTAAELRKCIGMQE           211 - 273
//

Text Mined References (8)

PMID Year Title
25367361 2014 NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians.
20018961 2009 Genomewide association study of leprosy.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
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).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.