Home > Gene Browser > TGM5
TGM5
- Synonyms
- PSS2, TGASE5, TGASEX, TGM6, TGMX, TGX
- External resources
- NCBI9333
- OMIM603805
- EnsemblENSG00000104055
- HGNCHGNC:11781
- Summary
- This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 56
- Likely pathogenic
- 10
- VUS
- 2,313
- Likely benign
- 3,402
- Benign
- 32
Patient phenotypes
Proportions of phenotypes among 66 patients carrying pathogenic or likely pathogenic variants on TGM5 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 36.4%
- Abnormality of the cardiovascular system
- 25.8%
- Abnormality of the musculoskeletal system
- 22.7%
- Abnormality of the eye
- 16.7%
- Abnormality of head or neck
- 13.6%
- Abnormality of the ear
- 13.6%
- Abnormality of the genitourinary system
- 13.6%
- Growth abnormality
- 12.1%
- Abnormality of limbs
- 10.6%
- Abnormality of the integument
- 9.1%
- Abnormality of the digestive system
- 6.1%
- Abnormality of blood and blood-forming tissues
- 4.5%
- Abnormality of the immune system
- 3%
- Abnormality of the respiratory system
- 3%
- Neoplasm
- 3%
- Abnormal cellular phenotype
- 1.5%
- Abnormality of prenatal development or birth
- 1.5%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
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