XB-FEAT-952101: Difference between revisions
imported>Christina (→aff2) |
imported>Xenbase |
||
| (2 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
=aff2= | =''aff2''= | ||
This is the community wiki page for the gene ''aff2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | This is the community wiki page for the gene ''aff2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
| Line 5: | Line 5: | ||
01/12/2016 | 01/12/2016 | ||
Human name has changed for Entrez Gene: 2334. From AF4/FMR2 family, member 2 to AF4/FMR2 family member 2. | Human name has changed for Entrez Gene: 2334. From AF4/FMR2 family, member 2 to AF4/FMR2 family member 2. | ||
3/31/2022 | |||
removed synonym "fragile X mental retardation 2" | |||
This follows a request to the NCBI to remove 'retardation' or any 'R' referencing retardation be removed from FMRP and any other terminology linked to fragile x in the gene database(s) as this is outdated and offensive terminology. | |||
See: "The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations" : [https://www.mdpi.com/2073-4409/11/6/1044]. | |||
This article was written on behalf of 17 fragile x family associations calling for the removal of 'retardation' as discriminatory and stigmatic. | |||
=summary for human AFF2 from NCBI= | |||
This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016] | |||
Latest revision as of 21:03, 30 March 2022
aff2
This is the community wiki page for the gene aff2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
01/12/2016 Human name has changed for Entrez Gene: 2334. From AF4/FMR2 family, member 2 to AF4/FMR2 family member 2.
3/31/2022 removed synonym "fragile X mental retardation 2"
This follows a request to the NCBI to remove 'retardation' or any 'R' referencing retardation be removed from FMRP and any other terminology linked to fragile x in the gene database(s) as this is outdated and offensive terminology. See: "The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations" : [1].
This article was written on behalf of 17 fragile x family associations calling for the removal of 'retardation' as discriminatory and stigmatic.
summary for human AFF2 from NCBI
This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]