Home > Gene Browser > SPTBN4

SPTBN4

Synonyms
CMND, NEDHND, QV, SPNB4, SPTBN3
External resources
Summary
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms 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
25
Likely pathogenic
0
VUS
15,116
Likely benign
3,051
Benign
109

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on SPTBN4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
13.3%
Abnormality of the immune system
13.3%
Growth abnormality
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the eye
6.7%
Abnormality of the integument
6.7%
Abnormality of the respiratory system
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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