MAFB Chromosome 20
MAF bZIP transcription factor B
Upload your DNA to see your personal genotypes for variants in MAFB.
What This Gene Does
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]
Gene Info
Gene Group
Large MAF bZIP transcription factor family
Locus Type
gene with protein product
Location
20q12
Ensembl
ENSG00000204103
Associated Conditions (8)
Multicentric carpo-tarsal osteolysis with or without nephropathy
Duane retraction syndrome 3 with or without deafness
MAFB-related disorder
Inborn genetic diseases
Carpal osteolysis
Orofacial cleft 1
Duane retraction syndrome 2
Duane syndrome type 1
Key Variants
RS121912307
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, MAFB-related disorder
Health Risk
RS1416365415
Conflicting classifications of pathogenicity
MAFB-related disorder, Inborn genetic diseases, MAFB-related disorder
Health Risk
RS150718854
Conflicting classifications of pathogenicity
Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness
Health Risk
RS200660283
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, Multicentric carpo-tarsal osteolysis with or without nephropathy
Health Risk
RS201590858
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, MAFB-related disorder, Multicentric carpo-tarsal osteolysis with or without nephropathy
Health Risk
RS374174345
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, Inborn genetic diseases
Health Risk
RS747066288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753634759
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
Health Risk
RS767671011
Conflicting classifications of pathogenicity
Multicentric carpo-tarsal osteolysis with or without nephropathy, Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy
Health Risk
RS1600429244
Likely pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy
Health Risk
RS1600429281
Likely pathogenic
Carpal osteolysis, Multicentric carpo-tarsal osteolysis with or without nephropathy, Carpal osteolysis
Health Risk
RS2515462580
Likely pathogenic
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912307 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, MAFB-related disorder |
| RS1416365415 | Health Risk | Conflicting classifications of pathogenicity | MAFB-related disorder, Inborn genetic diseases, MAFB-related disorder |
| RS150718854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness |
| RS200660283 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS201590858 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, MAFB-related disorder, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS374174345 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness, Inborn genetic diseases |
| RS747066288 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753634759 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS767671011 | Health Risk | Conflicting classifications of pathogenicity | Multicentric carpo-tarsal osteolysis with or without nephropathy, Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS1600429244 | Health Risk | Likely pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS1600429281 | Health Risk | Likely pathogenic | Carpal osteolysis, Multicentric carpo-tarsal osteolysis with or without nephropathy, Carpal osteolysis |
| RS2515462580 | Health Risk | Likely pathogenic | — |
| RS2515463612 | Health Risk | Likely pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS2515463659 | Health Risk | Likely pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS561320614 | Health Risk | Likely pathogenic | MAFB-related disorder, MAFB-related disorder |
| RS745460952 | Health Risk | Likely pathogenic | Orofacial cleft 1, Orofacial cleft 1 |
| RS1555826446 | Health Risk | Pathogenic | — |
| RS1600429262 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS2515463632 | Health Risk | Pathogenic | MAFB-related disorder, MAFB-related disorder |
| RS2515463636 | Health Risk | Pathogenic | — |
| RS387907004 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907005 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907007 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907008 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS730880014 | Health Risk | Pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS879255275 | Health Risk | Pathogenic | Duane retraction syndrome 3 with or without deafness, Duane retraction syndrome 2, Duane syndrome type 1 |
| RS879255276 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane syndrome type 1, Duane retraction syndrome 3 with or without deafness |
| RS879255277 | Health Risk | Pathogenic | Duane retraction syndrome 2, Duane syndrome type 1, Duane retraction syndrome 3 with or without deafness |
| RS1555826433 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS387907006 | Health Risk | Pathogenic/Likely pathogenic | Multicentric carpo-tarsal osteolysis with or without nephropathy, Inborn genetic diseases, Multicentric carpo-tarsal osteolysis with or without nephropathy |