GeneBe

VEZF1

protein-coding

vascular endothelial zinc finger 1, the group of Zinc fingers C2H2-type

Gene summary

Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]

Previous symbols:
  • ZNF161

MANE transcript

NM_007146.3

Inheritance

AD

ClinVar variants

P:1U:45B:4

Top phenotype

Cardiomyopathy, dilated, 1OO

gnomAD constraint

pLI —, LoF o/e 0.05

Max pathogenic AF

—

Genomic locus

chr17:57,971,547-57,988,259

External References & Databases

Ensembl (ENSG00000136451)NCBI Gene (7716)OMIM (606747)HGNC:12949GenCCUniProt (Q14119)AlphaFoldClinVar (VEZF1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~16.7 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cardiomyopathy, dilated, 100LIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0859381

Submitter: Ambry Genetics

cardiomyopathy, dilated, 100LIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0859381

Submitter: Labcorp Genetics (formerly Invitae)

autism spectrum disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0005258

Submitter: Ambry Genetics

cardiomyopathy, dilated, 100NO_KNOWN

Inheritance Pattern: AD

Disease ID:MONDO:0859381

Submitter: ClinGen

The VEZF1gene was evaluated for autosomal dominant dilated cardiomyopathy (DCM). VEZF1 is a transcriptional regulatory protein that is expressed in human heart tissue (PMID: 15882861). Inactivation of Vezf1 results in embryonic lethality in the mouse caused by angiogenic remodeling defects and loss of vascular integrity in homozygous mutant embryos (PMID: 15882861). Knockout of Vezf1 in zebrafish caused increased pericardial cavity size and decreased the number and size of ventricular cardiomyocytes and showed no hemodynamic stress-induced increase in cardiac growth and contractile function (PMID: 31911272). RNA sequencing, qRT-PCR and Western blot analysis showed that VEZF1 knockout significantly lowers β-myosin heavy chain (β-MHC/Myh7) expression and downregulated other key genes in cardiac systolic function (PMID: 31911272). Publications that presented genetic evidence were excluded due to DCM GCEP concerns of suspect data in accordance with other publications from this author group as described in the DCM GCEP Specification Document (Shi et al., 2023, PMID: 36657711). No convincing evidence for a causal role for VEZF1 for AD DCM has been reported. Although this gene-disease assertion is supported by expression and protein interaction studies, no reports have directly implicated this gene in humans. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on 01/10/2025 (SOP Version 10).

Clinical Genomic Database (CGD)

Cardiomyopathy, dilated, 1OOAD

Manifestation: Cardiovascular

Intervention: Cardiovascular

Rationale: The condition may involve increased risk of cardiomyopathy, and awareness may allow early identification and management of cardiac disease

Refs: 36657711Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to VEZF1 variants in ClinVar

4 Conditions Cataloged
not specifiedTotal: 45
VEZF1-related disorderTotal: 7
not providedTotal: 4
Cardiomyopathy, dilated, 100Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007146.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
41
clinvar
 41
nonsense
1
clinvar
2
clinvar
 3
start loss
0
frameshift
2
clinvar
 2
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total10454050
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_007146.3RefSeqNP_009077.26MANE Select
ENST00000581208.2EnsemblENSP00000462337.16MANE Select
NM_001330393.2RefSeqNP_001317322.16Standard
ENST00000258963.7EnsemblENSP00000258963.35Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • angiogenesis
  • endothelial cell development
  • regulation of transcription by RNA polymerase II
  • transcription by RNA polymerase II
  • cellular defense response

Molecular Function

  • RNA polymerase II regulatory region sequence-specific DNA binding
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • metal ion binding

Cellular Component

  • nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000581208
Coding exons
6
Length
16711
Individuals with no LoFs
125656
Homozygous LoFs
18
Heterozygous LoFs
48
Defined
125722
p
0.000263
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.921482870.5150.00001493426
Missense (PolyPhen)2984.1580.344591018
Synonymous-1.381261081.170.000005841041
Loss of Function3.91119.70.05070.00000108230

Population LoF Frequency

PopulationCAFp-valueStatus
African0.00190.0010notable
Latino/Admixed American0.0000930.000058rare
Ashkenazi Jewish00.0absent
East Asian0.000220.00016rare
Finnish0.000610.00028rare
European (Non-Finnish)0.000280.00014rare
South Asian0.00150.00072notable
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3. {ECO:0000269|PubMed:8035792}.;

Recessive Scores

pRec
0.122

Intolerance Scores

LoFtool
0.246
RVIS EVS
-0.65
RVIS percentile EVS
16.36

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.646

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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