MAFG

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

Basic information

Region (hg38): 17:81918270-81927735

Links

ENSG00000197063 ∙ NCBI:4097 ∙ OMIM:602020 ∙ HGNC:6781 ∙ Uniprot:O15525 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAFG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAFG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	0

Variants in MAFG

This is a list of pathogenic ClinVar variants found in the MAFG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-81922612-C-G		not specified	Uncertain significance (Oct 16, 2024)
17-81922673-C-T		not specified	Uncertain significance (Feb 16, 2023)
17-81922676-G-A		not specified	Uncertain significance (Jan 31, 2024)
17-81922688-C-T		not specified	Uncertain significance (Dec 04, 2024)
17-81922691-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-81922727-G-C		not specified	Uncertain significance (Jan 16, 2024)
17-81922739-G-A		Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 01, 2020)
17-81922761-G-A			Likely benign (Nov 01, 2024)
17-81922769-A-C		not specified	Uncertain significance (May 20, 2024)
17-81922889-G-A		not specified	Uncertain significance (Apr 20, 2023)
17-81922946-C-T		not specified	Likely benign (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAFG	protein_coding	protein_coding	ENST00000357736	2	9445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.732	0.257	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	39	96.3	0.405	0.00000719	989
Missense in Polyphen		13	44.462	0.29238		430
Synonymous	0.228	47	49.0	0.959	0.00000381	351
Loss of Function	1.93	0	4.35	0.00	1.85e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: 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;Factors involved in megakaryocyte development and platelet production;Hemostasis;AP-1 transcription factor network (Consensus)

Recessive Scores

• pRec: 0.156

Intolerance Scores

• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

• pHI: 0.501
• hipred: Y
• hipred_score: 0.800
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Low	Medium

Mouse Genome Informatics

• Gene name: Mafg
• Phenotype: immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; muscle phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: in utero embryonic development;blood coagulation;adult behavior;regulation of cellular pH;regulation of cell population proliferation;regulation of epidermal cell differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• 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;protein heterodimerization activity