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SLC12A2

solute carrier family 12 member 2
3 disorders 2 untyped 1 causative 5q23.3 gene with protein product
HGNC:10911MonarchNCBI Gene 6558ENSG00000064651UniProt P55011OMIM 600840

Aliases: NKCC1, BSC2, BSC-2, PPP1R141, CCC1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Hearing Loss Autosomal Dominant 78 causative germline loss of function
mechanism: SLC12A2 Exon 21 Variant
Delpire-McNeill Syndrome untyped
Causative
Kilquist syndrome untyped
Loss-of-function
mechanism: Biallelic SLC12A2 / NKCC1 deficiency; Truncated or absent NKCC1 protein

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.