ATP2C2

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the ATP2C2 gene were identified in a male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), and excess curvature of the spine (kyphosis, scoliosis) (read full description).

Date of Report

Feb 21, 2019

Full Name

ATPase secretory pathway Ca2+ transporting 2

Location

Chromosome 16 (16p24.1)

Function

The ATP2C2 gene plays a role in the regulation of calcium in the cell (Vanoevelen et al., 2005)

Database Links

GeneCards: ATP2C2

NCBI Gene: 9914

OMIM: 613082

UniProtKB/Swiss-Prot: O75185

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene ATP2C2

Inheritance Pattern Autosomal recessive

Position (hg19) chr16:g.84438765C>G & g.84492871C>T

Transcript NM_014861.2

DNA Change c.242C>G & c.2217-5C>T

Protein Change p.Ser81Trp & N/A

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