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SEMA4A

Synonyms
CORD10, RP35, SEMAB, SEMB
External resources
Summary
This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

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
5
Likely pathogenic
1
VUS
2,916
Likely benign
1,619
Benign
422

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on SEMA4A gene are displayed below. The following symptoms were found in patients with a variant in SEMA4A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the immune system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of blood and blood forming tissues
33.3%
Abnormality of metabolism homeostasis
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the respiratory system
33.3%
Growth abnormality
33.3%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of prenatal development or birth
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the integument
16.7%
Abnormal cellular phenotype
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%
Neoplasm
0%

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