protein
AF4/FMR2 family member 2
Gene
AFF2
Organism
Homo sapiens(9606)
Length
1311 aa
Mass
144,771 Da
AFF2 (AF4/FMR2 family member 2) is an RNA-binding protein that functions in alternative splicing regulation through interaction with G-quartet RNA structures (UniProt: P51816). The protein is 1311 amino acids in length and is involved in post-transcriptional gene expression control.
AFF2 is associated with intellectual developmental disorder, X-linked 109 (XLID109), a condition characterized by mild to moderate intellectual disability with learning difficulties, communication deficits, attention problems, and hyperactivity. The disorder is linked to a fragile site on chromosome Xq28. Mutations in AFF2 disrupt its RNA-binding function, leading to impaired splicing regulation.
AFF2 is classified as a syndromic ASD-risk gene in the SFARI database (SFARI Cat S), indicating evidence for association with autism spectrum disorder in a syndromic context. The autistic behavior component documented in XLID109 reflects the gene's relevance to neurodevelopmental pathology affecting social communication and behavioral regulation.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure
Disease associations
Intellectual developmental disorder, X-linked 109XLID109
A form of mild to moderate intellectual disability associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Sources
Last updated 5/6/2026, 5:24:55 AM