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MAF |
Gene Facts External Data Attribution
- HGNC Symbol
- MAF (HGNC:6776) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- MAF bZIP transcription factor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- c-MAF
- %HI
- 13.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.03(Read more about gnomAD pLI score)
- LOEUF
- 0.85(Read more about gnomAD LOEUF score)
- Cytoband
- 16q23.2
- Genomic Coordinates
-
GRCh37/hg19: chr16:79627735-79634634 NCBI Ensembl UCSC GRCh38/hg38: chr16:79202622-79600737 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005360.5 ENST00000326043.5 (Read more about MANE Select)
- Function
- Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up- regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T- cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promo... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-549
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)
