Gene: SNHG31

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: BARD1

Alternate names for this Gene: -

Gene Summary: This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: BRCA1 associated RING domain 1

Type of Gene: protein-coding

rs1553628351 in SNHG31;BARD1 gene and Malignant neoplasm of breast PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

rs6715570 in SNHG31;BARD1 gene and Neuroblastoma PMID 19412175 2009 Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.