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FLASH GENE
Symbol SLC4A2 contributors: mct - updated : 30-05-2015
HGNC name solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
HGNC id 11028
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
cause membrane instability, resulting in hereditary spherocytosis and stomatocytosis
constitutional     --low  
in the bile ducts and hepatocytes in primary biliary cirrhosis (PBC) livers
constitutional       loss of function
during osteoclast differentiation
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • osteoclast-targeted deletion in mice of Slc4a2 results in osteopetrosis
  • Mice null for the Ae2 anion exchanger have abnormal enamel