MAFB

Chr 20q12

MAF bZIP transcription factor B

MANE:: ENST00000373313.3

OMIM: 608968 ↗NCBI: 9935 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MAFB · Q9Y5Q3

v62025-08-01

Predicted Aligned Error matrix for MAFB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.6/ 100

Low

323 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)3%
Low(50–70)22%
Very low(< 50)46%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic hearing loss
Osteogenesis imperfecta
Proteinuric renal disease

Disease associations (Open Targets)

multicentric carpo-tarsal osteolysis with or without nephropathy
0.81
Duane retraction syndrome 3 with or without deafness
0.64
Duane retraction syndrome
0.60
Dupuytren Contracture
0.52
neurodegenerative disease
0.49
palmar fibromatosis
0.48
hereditary disease
0.45
hyperparathyroidism
0.44
parathyroid gland disorder
0.44
fasciitis
0.44

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor MafB

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity)