AFF2 (ALF transcription elongation factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2334
Gene name Gene Name - the full gene name approved by the HGNC.
ALF transcription elongation factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFF2
Synonyms (NCBI Gene) Gene synonyms aliases
FMR2, FMR2P, FRAXE, MRX2, OX19, XLID109
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs139807832 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs1064796818 A>- Pathogenic Frameshift variant, coding sequence variant
rs1557256416 A>T Pathogenic Genic upstream transcript variant, stop gained, coding sequence variant
rs1603350606 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(517)
miRTarBase ID miRNA Experiments Reference
MIRT540158 hsa-miR-8485 HITS-CLIP 23824327
MIRT540157 hsa-miR-603 HITS-CLIP 23824327
MIRT633583 hsa-miR-4783-5p HITS-CLIP 23824327
MIRT540158 hsa-miR-8485 HITS-CLIP 23824327
MIRT540157 hsa-miR-603 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0002151 Function G-quadruplex RNA binding IBA
GO:0002151 Function G-quadruplex RNA binding IEA
GO:0002151 Function G-quadruplex RNA binding ISS
GO:0003723 Function RNA binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300806 3776 ENSG00000155966
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P51816
Protein name AF4/FMR2 family member 2 (Protein FMR-2) (FMR2P) (Protein Ox19)
Protein function RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05110 AF-4 18 → 535 Family
PF18875 AF4_int 801 → 815 AF4 interaction motif Motif
PF18876 AF-4_C 1054 → 1311 AF-4 proto-oncoprotein C-terminal region Family
Tissue specificity TISSUE SPECIFICITY: Brain (most abundant in hippocampus and amygdala), placenta and lung.
Sequence 
MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEY
TNKGDALANRVQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKN
RIIPPHQDNTHPSAPMPPPSVVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNK
MQTLTQDQSQAKLEDFFVYPAEQPQIGEVEESNPSAKEDSNPNSSGEDAFKEIFQSNSPE
ESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSMGQQKPTAYVRPMDGQDQAPD
ISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSLPSDPSCVEEI
LREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFK
SMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQA
SGGSGSSSESESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQ
NKSFICGQNETPMETISLPPPIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRP
TQKIPETKALKHKLSTTSETVSQRTIGKKQPKKVEKNTSTDEFTWPKPNITSSTPKEKES
VELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGPGKIVPKSREFIETDSSTSDS
NTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLSISNEEPTFSP
IPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTA
VTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNS
SRRANRRKEEKLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGK
FCATFKGISVNEGDTPKKASSATITVTNTAIATATVTATAIVTTTVTATATATATTTTTT
TTISTITSTITTGLMDSSHLEMTSWAALPLLSSSSTNVRRPKLTFDDSVHNADYYMQEAK
KLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEAKSPYTMYSETVELLRYAMRL
KNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFKQNASKVAQIP
SPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHW
DMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL
Sequence length 1311
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fragile X syndrome FRAXE rs193922937 N/A
Mental retardation intellectual disability rs1603350606 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Stimulate 33653372
Autism Spectrum Disorder Associate 22773736, 23849776, 30392976, 32393163
Autistic Disorder Associate 10424820, 26612855
Carcinoma Adenosquamous Associate 36849671
Carcinoma Squamous Cell Associate 35773081
Central Nervous System Neoplasms Associate 35115049
Colorectal Neoplasms Associate 37381158
Developmental Disabilities Associate 10424820
Endometriosis Associate 35429182
Epilepsy Associate 10424820