AHNAK2 Chromosome 14

AHNAK nucleoprotein 2
53 variants 53 Health Risk

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What This Gene Does
This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000185567
Associated Conditions (2)
Dysmetria
Cervical cancer
Key Variants
All Variants (53)
RSID Category Clinical Significance Conditions
RS766097494 Health Risk Conflicting classifications of pathogenicity
RS769923567 Health Risk Conflicting classifications of pathogenicity
RS776830611 Health Risk Conflicting classifications of pathogenicity
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