MAZ

MYC associated zinc finger protein, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:29806106-29811164

Links

ENSG00000103495 ∙ NCBI:4150 ∙ OMIM:600999 ∙ HGNC:6914 ∙ Uniprot:P56270 ∙ 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 MAZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAZ 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				4		4
missense			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	32	5	0

Variants in MAZ

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

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

Position	Type	Phenotype	Significance	ClinVar
16-29806735-C-T		not specified	Uncertain significance (Dec 27, 2023)
16-29806739-C-A		not specified	Uncertain significance (Jun 16, 2024)
16-29806766-G-A		not specified	Uncertain significance (Jan 24, 2024)
16-29807059-G-A		not specified	Uncertain significance (Mar 29, 2022)
16-29807071-G-A		not specified	Uncertain significance (Feb 22, 2023)
16-29807087-C-T		not specified	Uncertain significance (Feb 03, 2022)
16-29807089-G-A		not specified	Uncertain significance (Oct 17, 2023)
16-29807113-G-A		not specified	Uncertain significance (Mar 25, 2024)
16-29807135-C-T		not specified	Uncertain significance (May 22, 2023)
16-29807143-T-G		not specified	Uncertain significance (Feb 07, 2023)
16-29807221-G-A		not specified	Uncertain significance (Jun 02, 2024)
16-29807225-C-T		not specified	Uncertain significance (Dec 27, 2022)
16-29807227-G-A		not specified	Uncertain significance (Jan 17, 2024)
16-29807227-G-T		not specified	Uncertain significance (Feb 01, 2023)
16-29807228-C-T		not specified	Uncertain significance (Jan 29, 2024)
16-29807237-C-T		not specified	Uncertain significance (Apr 07, 2023)
16-29807261-C-T		not specified	Uncertain significance (Apr 01, 2024)
16-29807269-A-C		not specified	Uncertain significance (Jun 11, 2021)
16-29807271-C-T			Likely benign (Apr 01, 2023)
16-29807282-C-T		not specified	Uncertain significance (Apr 29, 2024)
16-29807288-C-T		not specified	Uncertain significance (Aug 17, 2021)
16-29807309-C-G		not specified	Uncertain significance (Oct 27, 2023)
16-29807313-C-T			Likely benign (Mar 01, 2023)
16-29807317-T-G		not specified	Uncertain significance (Dec 06, 2021)
16-29807318-C-G		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAZ	protein_coding	protein_coding	ENST00000219782	5	6223

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.944	0.0563	122854	0	12	122866	0.0000488

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.586	216	242	0.894	0.0000126	3093
Missense in Polyphen		26	41.925	0.62015		398
Synonymous	-8.60	216	104	2.07	0.00000573	1054
Loss of Function	3.15	1	13.5	0.0741	6.77e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000136	0.000133
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000469	0.0000465
European (Non-Finnish)	0.0000824	0.0000815
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Regulates inflammation-induced expression of serum amyloid A proteins. {ECO:0000269|PubMed:12270922}.
• Pathway: Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways (Consensus)

Recessive Scores

• pRec: 0.207

Haploinsufficiency Scores

• pHI: 0.322
• hipred: Y
• hipred_score: 0.701
• ghis: 0.678

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.971

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Maz
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system 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); reproductive system phenotype; renal/urinary system phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: maza
• Affected structure: post-vent region
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;termination of RNA polymerase II transcription
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA binding;protein binding;metal ion binding