Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3899
Gene name Gene Name - the full gene name approved by the HGNC.
ALF transcription elongation factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFF3
Synonyms (NCBI Gene) Gene synonyms aliases
KINS, LAF4, MLLT2-like
Disease Acronyms (UniProt) Disease acronyms from UniProt database
KINS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003690 Function Double-stranded DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IEA
GO:0005634 Component Nucleus IDA 8555498
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601464 6473 ENSG00000144218
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224 21383967
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
25751624
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
18616733
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease, Celiac disease 26546613 ClinVar, GWAS
Diabetes Diabetes GWAS
Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease GWAS
Asthma Asthma GWAS
Associations from Text Mining
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