Home > Gene Browser > GBP3

GBP3

Synonyms
-
External resources
Summary
This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene.

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
14
Likely pathogenic
1,207
VUS
2,503
Likely benign
5
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1215 patients carrying pathogenic or likely pathogenic variants on GBP3 gene are displayed below. The following symptoms were found in patients with a variant in GBP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.2%
Abnormality of the musculoskeletal system
32.3%
Abnormality of the eye
28.6%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
20.3%
Abnormality of the ear
16%
Growth abnormality
13.3%
Abnormality of the integument
12.9%
Abnormality of limbs
12.5%
Abnormality of the genitourinary system
11%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the digestive system
8.9%
Abnormality of the immune system
7%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the respiratory system
4%
Abnormality of prenatal development or birth
3.5%
Neoplasm
3%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.7%
Abnormality of the voice
0.2%
Abnormality of the thoracic cavity
0.1%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.