Gene Gene information from NCBI Gene database.
Entrez ID 3899
Gene name ALF transcription elongation factor 3
Gene symbol AFF3
Synonyms (NCBI Gene)
KINSLAF4MLLT2-like
Chromosome 2
Chromosome location 2q11.2
Summary This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may fu
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1131692272 C>T Pathogenic Genic upstream transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
474
miRTarBase ID miRNA Experiments Reference
MIRT705859 hsa-miR-508-5p HITS-CLIP 23313552
MIRT705858 hsa-miR-1273g-3p HITS-CLIP 23313552
MIRT705857 hsa-miR-766-3p HITS-CLIP 23313552
MIRT705856 hsa-miR-4793-3p HITS-CLIP 23313552
MIRT705855 hsa-miR-4252 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IEA
GO:0005634 Component Nucleus IDA 8555498
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601464 6473 ENSG00000144218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51826
Protein name AF4/FMR2 family member 3 (Lymphoid nuclear protein related to AF4) (Protein LAF-4)
Protein function Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05110 AF-4 20 173 Family
PF05110 AF-4 158 473 Family
PF18875 AF4_int 766 779 AF4 interaction motif Motif
PF18876 AF-4_C 959 1226 AF-4 proto-oncoprotein C-terminal region Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
Sequence
MDSFDLALLQEWDLESLCVYEPDRNALRRKERERRNQETQQDDGTFNSSYSLFSEPYKTN
KGDELSNRIQNTLGNYDEMKDFLTDRSNQSHLVGVPKPGVPQTPVNKIDEHFVADSRAQN
QPSSICSTTTSTPAAVPVQQSKRGTMGWQKAGHPPSD
GQQRATQQGSLRTLLGDGVGRQQ
PRAKQVCNVEVGLQTQERPPAMAAKHSSSGHCVQNFPPSLASKPSLVQQKPTAYVRPMDG
QDQAPDESPKLKSSSETSVHCTSYRGVPASKPEPARAKAKLSKFSIPKQGEESRSGETNS
CVEEIIREMTWLPPLSAIQAPGKVEPTKFPFPNKDSQLVSSGHNNPKKGDAEPESPDNGT
SNTSMLEDDLKLSSDEEENEQQAAQRTALRALSDSAVVQQPNCRTSVPSSKGSSSSSSSG
SSSSSSDSESSSGSDSETESSSSESEGSKPPHFSSPEAEPASSNKWQLDKWLN
KVNPHKP
PILIQNESHGSESNQYYNPVKEDVQDCGKVPDVCQPSLREKEIKSTCKEEQRPRTANKAP
GSKGVKQKSPPAAVAVAVSAAAPPPAVPCAPAENAPAPARRSAGKKPTRRTERTSAGDGA
NCHRPEEPAAADALGTSVVVPPEPTKTRPCGNNRASHRKELRSSVTCEKRRTRGLSRIVP
KSKEFIETESSSSSSSSDSDLESEQEEYPLSKAQTVAASASSGNDQRLKEAAANGGSGPR
APVGSINARTTSDIAKELEEQFYTLVPFGRNELLSPLKDSDEIRSLWVKIDLTLLSRIPE
HLPQEPGVLSAPATKDSESAPPSHTSDTPAEKALPKSKRKRKCDNEDDYREIKKSQGEKD
SSSRLATSTSNTLSANHCNMNINSVAIPINKNEKMLRSPISPLSDASKHKYTSEDLTSSS
RPNGNSLFTSASSSKKPKADSQLQPHGGDLTKAAHNNSENIPLHKSRPQTKPWSPGSNGH
RDCKRQKLVFDDMPRSADYFMQEAKRMKHKADAMVEKFGKALNYAEAALSFIECGNAMEQ
GPMESKSPYTMYSETVELIRYAMRLKTHSGPNATPEDKQLAALCYRCLALLYWRMFRLKR
DHAVKYSKALIDYFKNSSKAAQAPSPWGASGKSTGTPSPMSPNPSPASSVGSQGSLSNAS
ALSPSTIVSIPQRIHQMAANHVSITNSILHSYDYWEMADNLAKENREFFNDLDLLMGPVT
LHSSMEHLVQYSQQGLHWLRNSAHLS
Sequence length 1226
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AFF3-associated disorder Likely pathogenic rs1682014084 RCV001254057
AFF3-related neurodevelopmental disorders Pathogenic rs2104735114 RCV001822992
KINSSHIP syndrome Pathogenic; Likely pathogenic rs1131692272, rs2104734977, rs2104735156, rs2104735130, rs2104734930, rs2104735114, rs2546110253 RCV001391179
RCV001391180
RCV001391181
RCV001391182
RCV001391183
RCV002286850
RCV003153083
RCV001391178
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2546095752, rs2545867642 -
AFF3-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs34506074, rs2546102839, rs117712488, rs2469089133, rs770911611, rs751918839, rs2469091649, rs141110020, rs114030857, rs752482037, rs771387532, rs202019958, rs138762479, rs138245031, rs148703034
View all (21 more)
RCV003975936
RCV003402324
RCV003405781
RCV003400275
RCV003402120
RCV003397430
RCV003410768
RCV003908919
RCV004753682
RCV004753683
RCV003929112
RCV003980911
RCV004731533
RCV003966389
RCV003939266
RCV003964627
RCV003974470
RCV003974219
RCV003967388
RCV003979815
RCV003982421
RCV003914173
RCV003899689
RCV003909580
RCV003911883
RCV003952174
RCV003947369
RCV003927237
RCV003934439
RCV003971395
RCV003922030
RCV003932159
RCV003952227
RCV003954540
RCV003974779
RCV003969492
See cases Uncertain significance rs2104740337, rs960285071 RCV001542306
RCV001542307
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Juvenile Associate 20072139
Arthritis Rheumatoid Associate 19359276, 20444755, 21452313, 22328738, 23242182, 28681901, 34104118
Autoimmune Diseases Associate 20072139
Diabetes Mellitus Type 1 Associate 22403184, 35986039
Glioblastoma Associate 28035070
Glioma Associate 28035070
Lymphatic Metastasis Inhibit 38602239
Lymphoma Follicular Associate 18622426
Neoplasms Inhibit 12947006
Neoplasms Associate 28697743, 35478418, 38095640