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

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

rs10062079 in C9;DAB2 gene and Creatinine measurement, serum (procedure) PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs12153248 in C9;DAB2 gene and Glomerular Filtration Rate PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

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

rs2255280 in C9;DAB2 gene and Malignant neoplasm of pancreas PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

rs2255280 in C9;DAB2 gene and Pancreatic carcinoma PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.