TCF12
Domain
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis (PubMed:32620954).
Involvement in disease
Craniosynostosis 3
CRS3
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypogonadotropic hypogonadism 26 with or without anosmia
HH26
A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis. Inheritance can be autosomal dominant or autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.
Cellular localization
- Nucleus
Alternative names
BHLHB20, HEB, HTF4, TCF12, Transcription factor 12, TCF-12, Class B basic helix-loop-helix protein 20, DNA-binding protein HTF4, E-box-binding protein, Transcription factor HTF-4, bHLHb20