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HIF3A

Synonyms
HIF-3A, HIF3-alpha-1, IPAS, MOP7, PASD7, bHLHe17
External resources
Summary
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants 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
10
Likely pathogenic
12
VUS
7,005
Likely benign
221
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on HIF3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
31.8%
Abnormality of the digestive system
22.7%
Abnormality of the eye
22.7%
Abnormality of head or neck
13.6%
Abnormality of limbs
13.6%
Abnormality of the ear
13.6%
Abnormality of the immune system
13.6%
Abnormality of the cardiovascular system
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
4.5%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the genitourinary system
4.5%
Constitutional symptom
4.5%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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