Gene: SLC4A2

Alternate names for this Gene: AE2|BND3L|EPB3L1|HKB3|NBND3

Gene Summary: This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: solute carrier family 4 member 2

Type of Gene: protein-coding

Gene: CDK5

Alternate names for this Gene: LIS7|PSSALRE

Gene Summary: This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: cyclin dependent kinase 5

Type of Gene: protein-coding

rs2069443 in SLC4A2;CDK5 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.