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MPIG6B

Synonyms
C6orf25, G6b, G6b-B, NG31, THAMY
External resources
Summary
This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. 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
0
VUS
3,074
Likely benign
695
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on MPIG6B gene are displayed below. The following symptoms were found in patients with a variant in MPIG6B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of the cardiovascular system
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
21.4%
Abnormality of the integument
21.4%
Abnormality of blood and blood forming tissues
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the eye
14.3%
Growth abnormality
14.3%
Abnormality of limbs
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
7.1%
Abnormality of the voice
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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