SLC4A2 solute carrier family 4 member 2

Gene ID: 6522, updated on 3-Nov-2024
Gene type: protein coding
Also known as: AE2; HKB3; BND3L; NBND3; OPTB9; EPB3L1

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. [provided by RefSeq, Nov 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Osteopetrosis, autosomal recessive 9 MedGen: C5830487OMIM: 620366GeneReviews: Not available	not available

Genomic context

Location:: 7q36.1

Sequence:: Chromosome: 7; NC_000007.14 (151058200..151076527)

Total number of exons:: 25

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SLC4A2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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