ZMIZ2

zinc finger MIZ-type containing 2, the group of Zinc fingers MIZ-type

Basic information

Region (hg38): 7:44748580-44769881

Links

ENSG00000122515 ∙ NCBI:83637 ∙ OMIM:611196 ∙ HGNC:22229 ∙ Uniprot:Q8NF64 ∙ 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 ZMIZ2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZMIZ2 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				2	1	3
missense			63			63
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	63	2	1

Variants in ZMIZ2

This is a list of pathogenic ClinVar variants found in the ZMIZ2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-44756260-T-C		not specified	Uncertain significance (May 05, 2023)
7-44756269-T-G		not specified	Uncertain significance (Oct 18, 2021)
7-44756290-C-T		not specified	Uncertain significance (Jun 29, 2023)
7-44756468-G-A		not specified	Uncertain significance (Dec 20, 2023)
7-44756525-G-A		not specified	Uncertain significance (Dec 06, 2022)
7-44756536-C-T			Likely benign (Nov 01, 2022)
7-44756959-C-G		not specified	Uncertain significance (Mar 18, 2024)
7-44757025-G-A		not specified	Uncertain significance (Apr 06, 2024)
7-44757103-G-A		not specified	Uncertain significance (Dec 09, 2023)
7-44757103-G-C		not specified	Uncertain significance (Sep 14, 2022)
7-44757113-G-A		not specified	Uncertain significance (Jun 29, 2023)
7-44757148-G-A		not specified	Uncertain significance (Feb 13, 2024)
7-44757388-G-A		not specified	Uncertain significance (Jan 23, 2024)
7-44757391-C-G		not specified	Uncertain significance (May 12, 2024)
7-44757392-C-T		not specified	Uncertain significance (Sep 22, 2023)
7-44757404-G-A		not specified	Uncertain significance (Apr 13, 2022)
7-44757409-C-G		not specified	Uncertain significance (Dec 01, 2022)
7-44757438-C-G		not specified	Uncertain significance (Aug 14, 2023)
7-44757476-C-T		not specified	Uncertain significance (Mar 06, 2023)
7-44757560-C-T		not specified	Uncertain significance (Jan 17, 2023)
7-44757911-G-A		not specified	Uncertain significance (Dec 12, 2023)
7-44757950-A-G		not specified	Uncertain significance (Jun 16, 2023)
7-44757971-C-G		not specified	Uncertain significance (Apr 17, 2024)
7-44757986-C-T		not specified	Uncertain significance (Jan 08, 2024)
7-44758046-T-C		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZMIZ2	protein_coding	protein_coding	ENST00000309315	18	21298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000191	125716	0	10	125726	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.92	442	571	0.774	0.0000347	5881
Missense in Polyphen		81	134.53	0.6021		1410
Synonymous	0.989	238	258	0.922	0.0000180	1996
Loss of Function	5.44	4	42.1	0.0951	0.00000216	451

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000123	0.0000992
East Asian	0.0000549	0.0000545
Finnish	0.0000472	0.0000462
European (Non-Finnish)	0.0000477	0.0000440
Middle Eastern	0.0000549	0.0000545
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors. {ECO:0000269|PubMed:16051670}.
• Pathway: AndrogenReceptor;Regulation of Androgen receptor activity (Consensus)

Recessive Scores

• pRec: 0.0956

Intolerance Scores

• loftool: 0.0373
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.15

Haploinsufficiency Scores

• pHI: 0.217
• hipred: Y
• hipred_score: 0.783
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zmiz2
• 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)

Zebrafish Information Network

• Gene name: zmiz2
• Affected structure: endodermal cell
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;mitochondrion;nuclear replication fork
• Molecular function: protein binding;zinc ion binding;nuclear receptor transcription coactivator activity