AFF2 Chromosome X
ALF transcription elongation factor 2
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What This Gene Does
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]
Gene Info
Gene Group
"AF4/FMR2 family|Super elongation complex"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000155966
Associated Conditions (5)
Inborn genetic diseases
FRAXE
Intellectual disability
AFF2-related disorder
Premature ovarian failure
Key Variants
RS139807832
Conflicting classifications of pathogenicity
Health Risk
RS147842224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149653283
Conflicting classifications of pathogenicity
FRAXE, Intellectual disability, AFF2-related disorder
Health Risk
RS369100046
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374064624
Conflicting classifications of pathogenicity
FRAXE, FRAXE
Health Risk
RS782243009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782411248
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782779717
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1212059076
Likely pathogenic
FRAXE, FRAXE
Health Risk
RS188208167
Likely pathogenic
Premature ovarian failure, Premature ovarian failure
Health Risk
RS2070619300
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2072188268
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139807832 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147842224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149653283 | Health Risk | Conflicting classifications of pathogenicity | FRAXE, Intellectual disability, AFF2-related disorder |
| RS369100046 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS374064624 | Health Risk | Conflicting classifications of pathogenicity | FRAXE, FRAXE |
| RS782243009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782411248 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782779717 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1212059076 | Health Risk | Likely pathogenic | FRAXE, FRAXE |
| RS188208167 | Health Risk | Likely pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS2070619300 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2072188268 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2124413117 | Health Risk | Likely pathogenic | FRAXE, FRAXE |
| RS782019909 | Health Risk | Likely pathogenic | — |
| RS782491194 | Health Risk | Likely pathogenic | — |
| RS1064796818 | Health Risk | Pathogenic | — |
| RS1557256416 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1603350606 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS193922937 | Health Risk | Pathogenic | FRAXE, FRAXE |
| RS781818996 | Health Risk | Pathogenic | FRAXE, FRAXE |