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ERMAP

Synonyms
BTN5, PRO2801, RD, SC
External resources
Summary
The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene.

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
13
Likely pathogenic
1
VUS
854
Likely benign
3,198
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on ERMAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
21.4%
Abnormality of the genitourinary system
21.4%
Abnormality of the musculoskeletal system
21.4%
Growth abnormality
21.4%
Abnormality of head or neck
14.3%
Abnormality of the ear
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the endocrine system
7.1%
Constitutional symptom
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the eye
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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