AFF2 (ALF transcription elongation factor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 2334
Gene name ALF transcription elongation factor 2
Gene symbol AFF2
Synonyms (NCBI Gene)
FMR2FMR2PFRAXEMRX2OX19XLID109
Chromosome X
Chromosome location Xq28
Summary 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.
4
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.
517
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300806 3776 ENSG00000155966
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
88
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FRAXE Likely pathogenic; Pathogenic rs2124413117, rs1212059076, rs193922937, rs781818996 RCV001794859
RCV001806362
RCV000011272
RCV001251517
Intellectual disability Pathogenic rs1603350606 RCV000850211
Premature ovarian failure Likely pathogenic rs188208167 RCV001270244
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AFF2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs782198095, rs16994869, rs61743576, rs151043891, rs140927355, rs200306870, rs199574795, rs143923852, rs143278161, rs2520768673, rs782334806, rs147852345, rs370821602, rs201632076, rs373944993
View all (3 more)		 RCV003956392
RCV003935109
RCV003905110
RCV003927475
RCV003975275
RCV003955070
RCV003930080
RCV003955456
RCV003954078
RCV003406185
RCV003393125
RCV003908971
RCV003909311
RCV003904059
RCV003949535
RCV003934284
RCV003943068
RCV003952504
Malignant tumor of esophagus Benign; Likely benign rs151043891 RCV005888379
Melanoma Likely benign rs147852345 RCV005927660
Non-syndromic X-linked intellectual disability Uncertain significance; Likely benign rs1603348350, rs143923852 RCV005361739
RCV005355591
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease 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