Gene Gene information from NCBI Gene database.
Entrez ID 27125
Gene name ALF transcription elongation factor 4
Gene symbol AFF4
Synonyms (NCBI Gene)
AF5Q31CHOPSMCEF
Chromosome 5
Chromosome location 5q31.1
Summary 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.
3
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.
1440
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604417 17869 ENSG00000072364
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
529
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Likely pathogenic; Pathogenic rs2150098305, rs786205233, rs786205679, rs786205680, rs2532575070 RCV002272635
RCV000170515
RCV000170516
RCV000170517
RCV003127368
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AFF4-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs572126510, rs2150073079, rs145031583, rs780871066, rs2150098319, rs368333989, rs571366609, rs182027704, rs145445063, rs759650836, rs1385541325, rs760426736, rs148886341, rs373239602, rs750323931
View all (120 more)
RCV003393981
RCV005626479
RCV003968619
RCV003416507
RCV004749774
RCV004749769
RCV004749767
RCV003407859
RCV003913455
RCV004749828
RCV004749807
RCV003968637
RCV003913465
RCV004749775
RCV003394285
RCV004749827
RCV004749779
RCV003958429
RCV004749780
RCV004749797
RCV003916276
RCV004729098
RCV003984229
RCV003895859
RCV004749867
RCV003958557
RCV003916353
RCV004749866
RCV003923684
RCV003978640
RCV003941329
RCV003941319
RCV003933621
RCV003978476
RCV004749900
RCV004750257
RCV003898744
RCV004750260
RCV004750265
RCV004750263
RCV004750273
RCV003420347
RCV004750279
RCV003936607
RCV004750297
RCV003410133
RCV003973707
RCV004750296
RCV004749914
RCV004749916
RCV003971348
RCV003926431
RCV004749961
RCV003403950
RCV004750217
RCV003984282
RCV003916634
RCV004750223
RCV003395543
RCV003973594
RCV003926622
RCV003403991
RCV004750241
RCV003936479
RCV004750231
RCV004750309
RCV004750326
RCV003900969
RCV003410311
RCV003919062
RCV003417132
RCV003418745
RCV003402239
RCV003412467
RCV003405992
RCV003410825
RCV003414272
RCV003416959
RCV003416994
RCV003408750
RCV003408760
RCV003393147
RCV004750388
RCV003909023
RCV004750395
RCV004750396
RCV003919303
RCV004750401
RCV004750404
RCV004750407
RCV003919321
RCV004750410
RCV004750419
RCV004750413
RCV004723436
RCV004750421
RCV004750432
RCV004750433
RCV004750454
RCV003892326
RCV003907227
RCV003981635
RCV003983470
RCV003893916
RCV003902243
RCV003904481
RCV003901559
RCV003912251
RCV003897181
RCV003911857
RCV003934563
RCV003962150
RCV003971916
RCV003939575
RCV003947152
RCV003982065
RCV003983606
RCV003969741
RCV003966780
RCV004750462
RCV003401428
RCV003932806
RCV003932807
RCV003975494
RCV003978136
RCV003905809
RCV003935782
RCV003915789
RCV003913195
RCV003905804
RCV003906074
RCV003926243
RCV003940751
RCV003955857
RCV003955858
RCV003902884
RCV004749525
RCV003913190
RCV004749640
Autism spectrum disorder Likely benign rs1284413202 RCV003127367
Colon adenocarcinoma Likely benign rs752682575 RCV005934826
Familial cancer of breast Likely benign rs373289956 RCV005920992
Associations from Text MiningDisease 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