Home > Gene Browser > B3GALNT2
B3GALNT2
- Synonyms
- B3GalNAc-T2, MDDGA11
- External resources
- NCBI148789
- OMIM610194
- EnsemblENSG00000162885
- HGNCHGNC:28596
- Summary
- This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described.
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
- 11
- Likely pathogenic
- 1
- VUS
- 3,236
- Likely benign
- 679
- Benign
- 30
Patient phenotypes
Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on B3GALNT2 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the cardiovascular system
- 30%
- Abnormality of head or neck
- 10%
- Abnormality of the digestive system
- 10%
- Abnormality of the ear
- 10%
- Abnormality of the eye
- 10%
- Abnormality of the genitourinary system
- 10%
- Abnormality of the integument
- 10%
- Abnormality of the nervous system
- 10%
- Growth abnormality
- 10%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of limbs
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the musculoskeletal system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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