Gene: DAB2

Alternate names for this Gene: DOC-2|DOC2

Gene Summary: This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: DAB adaptor protein 2

Type of Gene: protein-coding

Gene: C9

Alternate names for this Gene: ARMD15|C9D

Gene Summary: This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: complement C9

Type of Gene: protein-coding

rs1818782 in DAB2;C9 gene and Aspartate aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1818782 in DAB2;C9 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs1818782 in DAB2;C9 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs11959928 in DAB2;C9 gene and Chronic Kidney Diseases PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

rs11959928 in DAB2;C9 gene and Creatinine measurement, serum (procedure) PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs2542713 in DAB2;C9 gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs2542713 in DAB2;C9 gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs11951093 in DAB2;C9 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs11959928 in DAB2;C9 gene and Kidney Failure, Chronic PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.