GeneBe

MAFG

protein-coding

MAF bZIP transcription factor G, the group of Basic leucine zipper proteins

Gene summary

Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]

MANE transcript

NM_002359.4

Inheritance

—

ClinVar variants

U:16B:2

Top phenotype

Hereditary breast ovarian cancer syndrome

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr17:81,918,270-81,927,735

External References & Databases

Ensembl (ENSG00000197063)NCBI Gene (4097)OMIM (602020)HGNC:6781GenCCUniProt (O15525)AlphaFoldClinVar (MAFG)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~9.5 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MAFG variants in ClinVar

3 Conditions Cataloged
not specifiedTotal: 16
not providedTotal: 1
Hereditary breast ovarian cancer syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002359.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
16
clinvar
1
clinvar
 17
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total00162018
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_002359.4RefSeqNP_002350.12MANE Select
ENST00000357736.9EnsemblENSP00000350369.42MANE Select
NM_032711.4RefSeqNP_116100.22Standard
ENST00000392366.7EnsemblENSP00000376173.32Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
  • Quercetin and Nf-kB- AP-1 Induced Cell Apoptosis
  • Nuclear Receptors Meta-Pathway
  • NRF2 pathway
  • oxidative stress induced gene expression via nrf2

Biological Process

  • in utero embryonic development
  • blood coagulation
  • adult behavior
  • regulation of cellular pH
  • regulation of cell population proliferation

Molecular Function

  • RNA polymerase II proximal promoter sequence-specific DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • DNA-binding transcription factor activity
  • protein binding
  • sequence-specific DNA binding

Cellular Component

  • nucleus
  • nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000357736
Coding exons
2
Length
9445
Individuals with no LoFs
0
Homozygous LoFs
0
Heterozygous LoFs
0
Defined
0
p
0.00
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.083996.30.4050.00000719989
Missense (PolyPhen)1344.4620.29238430
Synonymous0.2284749.00.9590.00000381351
Loss of Function1.9304.350.001.85e-761

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (PubMed:11154691). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1 and NFE2L2, and recruiting them to specific DNA-binding sites (PubMed:8932385, PubMed:9421508, PubMed:11154691). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NFE2L2 transcription factor (PubMed:11154691). Transcription factor, component of erythroid-specific transcription factor NFE2L2 (PubMed:11154691). Activates globin gene expression when associated with NFE2L2 (PubMed:11154691). May be involved in signal transduction of extracellular H(+) (By similarity). {ECO:0000250|UniProtKB:Q76MX4, ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9421508}.;

Recessive Scores

pRec
0.156

Intolerance Scores

RVIS EVS
-0.36
RVIS percentile EVS
28.63

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.995

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumLowMedium
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