rs2981745
This is a 5 prime utr variant variant in the DMBT1 gene.
▶Research that mentions this SNP (1)
▶Identification of aDMBT1polymorphism associated with increased breast cancer risk and decreased promoter activityFunctionalTchatchou S. et al.(2010)· Human Mutation
This functional study identified 60 candidate differential allele-specific expression (DASE) loci in normal breast mammary epithelial cells using genome-wide SNP array analysis and validated them through Sanger sequencing. Key findings include identification of DMBT1 rs2981745 as a causal variant for DASE (DASE=2.03, P=0.0017, FDR=0.014), along with cancer-related genes ZNF331 and USP6 in a breast cancer-relevant pathway network. The study demonstrates that global DASE analysis is a novel approach for identifying breast cancer risk alleles.
About DMBT1
Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]
View all DMBT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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