MAFB
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAFB (HGNC:6408) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MAF bZIP transcription factor B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KRML
Alias symbols
No aliases found
%HI
5.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.98(Read more about gnomAD pLI score)
LOEUF
0.47(Read more about gnomAD LOEUF score)
Cytoband
20q12
Genomic Coordinates
GRCh37/hg19: chr20:39314488-39317876 NCBI Ensembl UCSC
GRCh38/hg38: chr20:40685848-40689236 NCBI Ensembl UCSC
MANE Select Transcript
NM_005461.5 ENST00000373313.3 (Read more about MANE Select)
Function
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 ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19167
ClinGen Curation ID:
CCID:007426
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/21/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
At this time, there are no data to support the haploinsufficiency of MAFB. Heterozygous missense mutations in MAFB have been associated with multicentric carpotarsal osteolysis syndrome (MCTO, OMIM 166300) (Zankl et al 2012, PMID 22387013). There also has been a report of a patient with ataxia, cleft lip/palate, and intellectual and developmental disabilities (IDD) who had a variant in MAFB identified in a whole exome study of patients with IDD. (Sundaram et al 2014, PMID 24321989) This is suggested to be significant by that author because a previous GWAS study of non-syndromic cleft lip/palate patients suggested a significant association with MAFB. However, there are no reported functional studies that demonstrate that these mutations result in MAFB loss-of-function and whole gene deletions have not been reported.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)