Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27125
Gene name Gene Name - the full gene name approved by the HGNC.
ALF transcription elongation factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFF4
Synonyms (NCBI Gene) Gene synonyms aliases
AF5Q31, CHOPS, MCEF
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205233 T>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs786205679 G>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs786205680 G>A Pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016084 hsa-miR-374b-5p Sequencing 20371350
MIRT016134 hsa-miR-421 Sequencing 20371350
MIRT018533 hsa-miR-335-5p Microarray 18185580
MIRT022101 hsa-miR-128-3p Sequencing 20371350
MIRT027364 hsa-miR-101-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000791 Component Euchromatin IEA
GO:0000791 Component Euchromatin ISS
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 20153263, 21729782, 22190034, 25416956, 28514442, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604417 17869 ENSG00000072364
Protein
UniProt ID Q9UHB7
Protein name AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein)
Protein function Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF
PDB 4IMY , 4OGR , 4OR5 , 5JW9 , 5L1Z , 6CYT , 6K7P , 6KN5 , 6R80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05110 AF-4 2 479 Family
PF18875 AF4_int 714 728 AF4 interaction motif Motif
PF18876 AF-4_C 897 1162 AF-4 proto-oncoprotein C-terminal region Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269|PubMed:10588740, ECO:0000269|PubMed:12065898}.
Sequence
MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYD
EMKDFIGDRSIPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQS
QKRSSGLQSGHSSQRTSAGSSSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSS
PGKPQAVSSLNSSHSRSHGNDHHSKEHQRSKSPRDPDANWDSPSRVPFSSGQHSTQSFPP
SLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSHGNSMTELKPSSKAHLTKLKI
PSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTKESQQSNFGTG
EQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEG
ADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLN
K
VNPHKVSPASSVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGS
ESGRGRQKSPAQSDSTTQRRTVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSR
HKAATKGSRKPNIKKESKSSPRPTAEKKKYKSTSKSSQKSREIIETDTSSSDSDESESLP
PSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKELLSPLSEPDDRYPLIVKIDL
NLLTRIPG
KPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKNEDDNRASESK
KPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSS
LKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSK
PRRTKLVFDDRNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNA
QESKSPFPMYSETVDLIKYTMKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKEN
ALKYSKTLTEHLKNSYNNSQAPSPGLGSKAVGMPSPVSPKLSPGNSGNYSSGASSASASG
SSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQKEFFAELDKVMGPLIFNASI
MTDLVRYTRQGLHWLRQDAKLI
S
Sequence length 1163
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Viral life cycle - HIV-1   Formation of RNA Pol II elongation complex
RNA Polymerase II Pre-transcription Events
RNA Polymerase II Transcription Elongation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
CHOPS Syndrome Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome rs786205679, rs786205680, rs786205233 N/A
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
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 32265480
Carcinogenesis Associate 29741610
Carcinoma Pancreatic Ductal Associate 37063434
Cognition Disorders Associate 25730767
De Lange Syndrome Associate 25730767
Epileptic Encephalopathy Early Infantile 3 Associate 25730767
Growth Disorders Associate 25730767
Heart Defects Congenital Associate 25730767
HEM dysplasia Associate 25730767
Hereditary Myopathy with Early Respiratory Failure Associate 25730767