DIAPH2 gene

diaphanous related formin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProt:

Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton.

From NCBI Gene:

  • Premature ovarian failure 2a

From UniProt:

Premature ovarian failure 2A (POF2A): An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. [MIM:300511]

Cytogenetic Location: Xq21.33, which is the long (q) arm of the X chromosome at position 21.33

Molecular Location: base pairs 96,684,663 to 97,600,598 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq21.33, which is the long (q) arm of the X chromosome at position 21.33
  • DIA
  • DIA2
  • DRF2
  • POF
  • POF2