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The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
MAFB (MAF BZIP Transcription Factor B) is a Protein Coding gene. Diseases associated with MAFB include Multicentric Carpotarsal Osteolysis Syndrome and Duane Retraction Syndrome 3 With Or Without Deafness. Among its related pathways are Developmental Biology and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is MAF.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IMP | 27181683 |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0007379 | segment specification | IEA | -- |
GO:0007423 | sensory organ development | TAS | 8001130 |
GO:0007585 | respiratory gaseous exchange | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Tumor necrosis factor alpha (TNF-alpha) inhibitors | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAFB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAFB 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mafb 30 |
|
||
Dog (Canis familiaris) |
Mammalia | MAFB 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mafb 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAFB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAFB 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mafb 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24839 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mafba 31 |
|
OneToMany | |
mafbb 31 |
|
OneToMany | |||
val 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10331 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | tj 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | maf-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
806002 | Uncertain Significance: not provided | 40,688,325(-) |
C/T NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) |
MISSENSE | |
894982 | Uncertain Significance: Multicentric carpo-tarsal osteolysis with or without nephropathy | 40,686,360(-) |
G/T NM_005461.5(MAFB):c.*1519C>A |
THREE_PRIME_UTR | |
895055 | Uncertain Significance: Multicentric carpo-tarsal osteolysis with or without nephropathy | 40,688,203(-) |
G/A NM_005461.5(MAFB):c.648C>T (p.Leu216=) |
SYNONYMOUS | |
895056 | Uncertain Significance: Multicentric carpo-tarsal osteolysis with or without nephropathy | 40,688,431(-) |
G/A NM_005461.5(MAFB):c.420C>T (p.His140=) |
SYNONYMOUS | |
895057 | Uncertain Significance: Multicentric carpo-tarsal osteolysis with or without nephropathy | 40,688,458(-) |
G/T NM_005461.5(MAFB):c.393C>A (p.His131Gln) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
multicentric carpotarsal osteolysis syndrome |
|
|
duane retraction syndrome 3 with or without deafness |
|
|
duane retraction syndrome |
|
|
duane retraction syndrome 1 |
|
|
duane retraction syndrome 2 |
|
|