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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CASZ1
castor zinc finger 1
Chromosome 1 Β· 1p36.22
NCBI Gene: 54897Ensembl: ENSG00000130940.15HGNC: HGNC:26002UniProt: B3KRV8
71PubMed Papers
20Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of DNA-templated transcriptionpositive regulation of transcription by RNA polymerase IIatrial fibrillationVaricose veinsdilated cardiomyopathyAbnormality of the skeletal system
✦AI Summary

CASZ1 (castor zinc finger 1) is a transcriptional activator that plays critical roles in neural, cardiovascular, and endocrine development 1. The protein functions as a DNA-binding transcription factor that regulates cell fate determination and tissue morphogenesis across multiple organ systems 1. In neural development, CASZ1 is essential for inner hair cell fate stabilization in the cochlea, where loss of function causes transdifferentiation of inner hair cells to outer hair cells and compromises outer hair cell survival 2. The protein also regulates neuron differentiation and has been identified as a risk gene for neurodevelopmental disorders, with de novo mutations showing significant enrichment in affected patients 3. In cardiovascular development, CASZ1 controls cardiomyocyte differentiation and vascular morphogenesis 1. Additionally, CASZ1 modulates aldosterone biosynthesis and mineralocorticoid receptor activity, with genome-wide association studies identifying it as a risk locus for primary aldosteronism 45. Overexpression of CASZ1 suppresses aldosterone production in adrenocortical cells 4. The gene is located in the 1p36 region, and deletions contribute to 1p36 deletion syndrome phenotypes 6. In cancer contexts, CASZ1 shows tissue-specific effects, acting as either a tumor suppressor or oncogene depending on the malignancy type 78.

Sources cited
1
CASZ1 is a transcription factor critical for neural, cardiac, and cardiovascular development
PMID: 38053207
2
CASZ1 is required for inner hair cell fate stabilization and outer hair cell survival in the cochlea
PMID: 39883789
3
CASZ1 is a risk gene for neurodevelopmental disorders with enrichment of de novo mutations
PMID: 33004838
4
CASZ1 is a risk locus for primary aldosteronism and suppresses aldosterone biosynthesis
PMID: 36057693
5
CASZ1 modulates mineralocorticoid receptor activity and aldosterone action
PMID: 36522424
6
CASZ1 is implicated in 1p36 deletion syndrome phenotypes
PMID: 26345236
7
CASZ1 can act as an oncogene in T-cell acute lymphoblastic leukemia
PMID: 38058200
8
CASZ1 shows tissue-specific tumor suppressor effects in clear cell renal cell carcinoma
PMID: 39235847
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.53Moderate
Varicose veinsOpen Targets
0.53Moderate
dilated cardiomyopathyOpen Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.52Moderate
hypertensionOpen Targets
0.52Moderate
essential hypertensionOpen Targets
0.47Moderate
cataractOpen Targets
0.47Moderate
heart failureOpen Targets
0.47Moderate
alcohol drinkingOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
vein disorderOpen Targets
0.44Moderate
congestive heart failureOpen Targets
0.44Moderate
atrial flutterOpen Targets
0.44Moderate
strokeOpen Targets
0.43Moderate
major depressive disorderOpen Targets
0.43Moderate
potassium deficiency diseaseOpen Targets
0.42Moderate
androgenetic alopeciaOpen Targets
0.42Moderate
Ischemic strokeOpen Targets
0.42Moderate
treatment-resistant hypertensionOpen Targets
0.41Moderate
lymphatic system diseaseOpen Targets
0.40Moderate
Pathogenic Variants7
NM_001079843.3(CASZ1):c.3027C>A (p.Tyr1009Ter)Pathogenic
CASZ1-related dilated cardiomyopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 1009
NM_001079843.3(CASZ1):c.2440_2443dup (p.Val815fs)Pathogenic
CASZ1-associated cardiomyopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 815
NM_001079843.3(CASZ1):c.2583del (p.Ile862fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 862
NM_001079843.3(CASZ1):c.139C>T (p.Arg47Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 47
NM_001079843.3(CASZ1):c.1968C>G (p.Tyr656Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 656
NM_001079843.3(CASZ1):c.559G>A (p.Gly187Ser)Pathogenic
Primary dilated cardiomyopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 187
NM_001079843.3(CASZ1):c.2443_2459del (p.Val815fs)Pathogenic
Primary dilated cardiomyopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 815
View on ClinVar β†—
Related Genes
ZFP1Protein interaction89%MOSMOShared pathway33%NREPShared pathway33%SPENCo-mentioned in literature20%WDR62Shared pathway13%CDK5RAP1Shared pathway13%
Tissue Expression6 tissues
Lung
100%
Heart
67%
Bone Marrow
24%
Liver
17%
Brain
14%
Ovary
7%
Gene Interaction Network
Click a node to explore
CASZ1ZFP1MOSMONREPSPENWDR62CDK5RAP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86V15
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.28]
RankingsWhere CASZ1 stands among ~20K protein-coding genes
  • #6,615of 20,598
    Most Researched71
  • #3,201of 5,498
    Most Pathogenic Variants7
  • #1,024of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedCASZ1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
PMID: 33004838
Nat Commun Β· 2020
1.00
2
Casz1 is required for both inner hair cell fate stabilization and outer hair cell survival.
PMID: 39883789
Science Β· 2025
0.90
3
Epigenetic modification of Castor zinc finger 1 (CASZ1) is associated with tumor microenvironments and prognosis of clear cell renal cell carcinoma.
PMID: 39235847
Int J Surg Β· 2025
0.80
4
1p36 deletion syndrome: an update.
PMID: 26345236
Appl Clin Genet Β· 2015
0.70
5
Role of the CASZ1 transcription factor in tissue development and disease.
PMID: 38053207
Eur J Med Res Β· 2023
0.60