ERICH2
Description
The ERICH2 (glutamate rich 2) is a protein-coding gene located on chromosome 2.
ERICH2, located on human Chromosome 2, at 2q31.1, is a gene that contains 10 distinct exons. The gene itself is 28,930 base pairs long and is flanked by the EIF2S2P4 and GAD1 genes. There are no known paralogs of the ERICH2 gene. ERICH2 transcription produces three validated distinct mRNA variants. The longest transcript variant is 1,388 base pairs in length, 1,311 of which are coding. The second variant differs from the first in its 5' UTR. It also has coding sequence differences and a distinct N-terminus compared to variant 1.
ERICH2, located on chromosome 2, is involved in histone modification and proper histone functioning, potentially through interactions with other proteins. Its mRNA produces three variants, the longest being 1,388 base pairs with 1,311 coding.
ERICH2 is also known as -.
Associated Diseases
- type 2 diabetes mellitus
- female infertility due to oocyte meiotic arrest
- male infertility with teratozoospermia due to single gene mutation
- oocyte maturation defect 9
- premature ovarian failure 19
- spermatogenic failure 61
- spermatogenic failure 72
- spermatogenic failure 73
