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GCA

Synonyms
GCL
External resources
Summary
This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
17
Likely pathogenic
75
VUS
2,859
Likely benign
14
Benign
0

Patient Phenotypes

Proportions of phenotypes among 92 patients carrying pathogenic or likely pathogenic variants on GCA gene are displayed below. The following symptoms were found in patients with a variant in GCA. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.7%
Abnormality of the musculoskeletal system
27.2%
Abnormality of head or neck
19.6%
Abnormality of the cardiovascular system
16.3%
Abnormality of the eye
16.3%
Growth abnormality
14.1%
Abnormality of the genitourinary system
12%
Abnormality of the ear
8.7%
Abnormality of limbs
7.6%
Abnormality of metabolism homeostasis
5.4%
Abnormality of the integument
4.3%
Abnormality of the respiratory system
4.3%
Abnormality of blood and blood forming tissues
3.3%
Abnormality of prenatal development or birth
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the immune system
3.3%
Abnormality of the endocrine system
2.2%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
1.1%
Neoplasm
1.1%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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