MAFF

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

Basic information

Region (hg38): 22:38200767-38216507

Links

ENSG00000185022

∙ NCBI:23764 ∙ OMIM:604877 ∙ HGNC:6780 ∙ Uniprot:Q9ULX9 ∙ 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 MAFF gene.

not_specified (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAFF gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012323.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			15 clinvar	1 clinvar		16
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAFF	protein_coding	protein_coding	ENST00000338483	2	14630

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0155	0.711	114474	0	1	114475	0.00000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	48	94.3	0.509	0.00000642	1003
Missense in Polyphen		8	46.018	0.17385		416
Synonymous	1.78	30	45.3	0.663	0.00000308	372
Loss of Function	0.674	3	4.55	0.659	2.34e-7	50

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	0.0000343	0.0000343
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:8932385). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene (PubMed:8932385, PubMed:16549056). May be a transcriptional enhancer in the up- regulation of the oxytocin receptor gene at parturition (PubMed:10527846). {ECO:0000269|PubMed:10527846, ECO:0000269|PubMed:16549056, ECO:0000269|PubMed:8932385}.;
Pathway: Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Nuclear Receptors Meta-Pathway;NRF2 pathway;Myometrial Relaxation and Contraction Pathways;oxidative stress induced gene expression via nrf2;Factors involved in megakaryocyte development and platelet production;Hemostasis (Consensus)

Recessive Scores

pRec: 0.161

Haploinsufficiency Scores

pHI: 0.259
hipred: Y
hipred_score: 0.692
ghis: 0.590

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Maff
Phenotype: normal phenotype;

Gene ontology

Biological process: in utero embryonic development;transcription by RNA polymerase II;parturition;blood coagulation;skeletal muscle cell differentiation;regulation of epidermal cell differentiation;positive regulation of transcription by RNA polymerase II
Cellular component: nucleus;nucleoplasm;mitochondrion
Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;sequence-specific DNA binding