Home > Gene Browser > ADRA1A

ADRA1A

Synonyms
ADRA1C, ADRA1L1, ALPHA1AAR
External resources
Summary
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties.

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
10
Likely pathogenic
0
VUS
4,839
Likely benign
96
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on ADRA1A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of the musculoskeletal system
60%
Abnormality of head or neck
50%
Abnormality of the ear
50%
Abnormality of limbs
40%
Abnormality of the genitourinary system
30%
Abnormality of the eye
20%
Abnormality of the integument
20%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the respiratory system
10%
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes