Human Gene MBTPS2 (ENST00000365779.2) from GENCODE V44
Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt B9ZVQ3) RefSeq Summary (NM_015884): This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]. Gencode Transcript: ENST00000365779.2 Gencode Gene: ENSG00000012174.12 Transcript (Including UTRs) Position: hg38 chrX:21,839,654-21,873,084 Size: 33,431 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chrX:21,839,735-21,869,701 Size: 29,967 Coding Exon Count: 7
ID:B9ZVQ3_HUMAN DESCRIPTION: SubName: Full=Membrane-bound transcription factor site-2 protease; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B9ZVQ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
