GeneBe

ZMIZ2

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

Basic information

Region (hg38): 7:44748581-44769881

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.

  • not_specified (120 variants)
  • not_provided (3 variants)
  • Death_in_infancy (1 variants)

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. These statistics are base on transcript: NM_000031449.4. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
1
clinvar
 3
missense
118
clinvar
2
clinvar
 120
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 119 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZMIZ2protein_codingprotein_codingENST00000309315 1821298
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.000.0001911257160101257260.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.924425710.7740.00003475881
Missense in Polyphen81134.530.60211410
Synonymous0.9892382580.9220.00001801996
Loss of Function5.44442.10.09510.00000216451

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.0001230.0000992
East Asian0.00005490.0000545
Finnish0.00004720.0000462
European (Non-Finnish)0.00004770.0000440
Middle Eastern0.00005490.0000545
South Asian0.00003270.0000327
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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