|
Gene id |
9935 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
MAFB Gene UCSC Ensembl |
|
Aliases |
DURS3, KRML, MCTO |
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Gene name |
MAF bZIP transcription factor B |
|
Alternate names |
transcription factor MafB, Kreisler maf-related leucine zipper homolog, MAFB/Kreisler basic region/leucine zipper transcription factor, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B, |
|
Gene location |
20q12 (40689235: 40685847) Exons: 1 NC_000006.12
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|
Gene summary(Entrez) |
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-specifi
|
|
OMIM |
608968 |
Protein Summary
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|
| GO accession | Term name | Evidence code | Go category |
|---|
|
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| Pathway id | Pathway name |
|---|
| hsa04928 | Parathyroid hormone synthesis, secretion and action | | hsa04928 | Parathyroid hormone synthesis, secretion and action | |
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| Associated diseases |
References |
| Cleft defects | GAD: 20436469 |
| Rheumatoid arthritis | GAD: 18615156 |
| Problems in fetal testis morphogenesis and spermatogenesis maintenance | MIK: 29324782 |
| Multicentric carpotarsal osteolysis syndrome | KEGG: H01865 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 29324782 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29324782 |
Problems i
n fetal te
stis morph
ogenesis a
nd spermat
ogenesis m
aintenance
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|