Free for academic non-profit institutions. Other users need a Commercial license
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 chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
AFF4 (AF4/FMR2 Family Member 4) is a Protein Coding gene. Diseases associated with AFF4 include Chops Syndrome and Eaf. Among its related pathways are Gene Expression and HIV Transcription Elongation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is AFF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003700 | DNA-binding transcription factor activity | TAS | -- |
GO:0005515 | protein binding | IPI | 20153263 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0008023 | transcription elongation factor complex | IBA,IDA | 22195968 |
GO:0032783 | ELL-EAF complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Transcription Elongation | ||
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | -- |
GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
GO:0007286 | spermatid development | IEA | -- |
GO:0010468 | regulation of gene expression | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AFF4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AFF4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AFF4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aff4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aff4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AFF4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AFF4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AFF4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AFF4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aff4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aff4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | lilli 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4989 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707051 | Benign: Chops syndrome | 132,934,511(-) | T/A | MISSENSE_VARIANT | |
707057 | Benign: Chops syndrome | 132,887,887(-) | T/C | SYNONYMOUS_VARIANT | |
707142 | Benign: not provided | 132,897,229(-) | C/T | SYNONYMOUS_VARIANT | |
707434 | Likely Benign: Chops syndrome | 132,883,488(-) | C/T | SYNONYMOUS_VARIANT | |
707492 | Benign: Chops syndrome | 132,934,659(-) | T/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2730796 | CNV | deletion | 23290073 |
esv3606811 | CNV | gain | 21293372 |
esv3606812 | CNV | loss | 21293372 |
nsv1022039 | CNV | gain | 25217958 |
nsv1137531 | CNV | deletion | 24896259 |
nsv475496 | CNV | novel sequence insertion | 20440878 |
nsv5003 | CNV | deletion | 18451855 |
nsv830489 | CNV | loss | 17160897 |
nsv830490 | CNV | gain | 17160897 |
nsv968987 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chops syndrome |
|
|
eaf |
|
|
toxocariasis |
|
|
adermatoglyphia |
|
|
cataract 11, multiple types |
|
|