MAFK

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

Basic information

Region (hg38): 7:1530702-1543043

Links

ENSG00000198517

∙ NCBI:7975 ∙ OMIM:600197 ∙ HGNC:6782 ∙ Uniprot:O60675 ∙ 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 MAFK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAFK 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						0
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in MAFK

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

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

Position	Phenotype	Significance	ClinVar
7-1539206-C-G	not specified	Uncertain significance (Feb 21, 2024)	3122040
7-1539954-C-T	not specified	Uncertain significance (Apr 07, 2023)	2560621
7-1540037-A-T	not specified	Uncertain significance (Apr 07, 2023)	2534265
7-1540052-A-G	not specified	Uncertain significance (Apr 07, 2023)	2534266
7-1540053-C-T	not specified	Uncertain significance (Apr 07, 2023)	2534267
7-1540293-A-G	not specified	Uncertain significance (Jul 07, 2022)	2300037
7-1540335-A-G	not specified	Uncertain significance (May 01, 2024)	3292573

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAFK	protein_coding	protein_coding	ENST00000343242	2	12330

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.711	0.275	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.36	73	114	0.641	0.00000874	966
Missense in Polyphen		14	40.444	0.34615		354
Synonymous	0.912	47	55.7	0.844	0.00000440	342
Loss of Function	1.87	0	4.09	0.00	1.72e-7	54

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:9150357). However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA- binding sites (PubMed:9150357, PubMed:8932385). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (PubMed:9150357). {ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9150357}.;
Pathway: Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Quercetin and Nf-kB- AP-1 Induced Cell Apoptosis;oxidative stress induced gene expression via nrf2;Factors involved in megakaryocyte development and platelet production;Hemostasis (Consensus)

Recessive Scores

pRec: 0.133

Intolerance Scores

loftool: 0.110
rvis_EVS: 0.13
rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

pHI: 0.188
hipred: Y
hipred_score: 0.769
ghis: 0.515

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
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: Mafk
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); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); hematopoietic system phenotype; muscle phenotype; cellular phenotype; growth/size/body region phenotype;

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;nervous system development;blood coagulation;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;transcription cofactor binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;sequence-specific DNA binding;RING-like zinc finger domain binding