ZNF24

zinc finger protein 24, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 18:35332227-35345482

Previous symbols: [ "ZNF191" ]

Links

ENSG00000172466 ∙ NCBI:7572 ∙ OMIM:194534 ∙ HGNC:13032 ∙ Uniprot:P17028 ∙ 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 ZNF24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF24 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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in ZNF24

This is a list of pathogenic ClinVar variants found in the ZNF24 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-35337606-G-A		not specified	Uncertain significance (Aug 10, 2021)
18-35337606-G-T		not specified	Uncertain significance (Oct 26, 2022)
18-35337626-C-G		not specified	Uncertain significance (Oct 08, 2024)
18-35337669-G-T		not specified	Uncertain significance (Mar 23, 2023)
18-35339901-T-C		not specified	Uncertain significance (Dec 20, 2023)
18-35339918-T-G		not specified	Uncertain significance (Feb 28, 2023)
18-35339936-T-C		not specified	Uncertain significance (Dec 10, 2024)
18-35339960-C-T		not specified	Uncertain significance (May 11, 2022)
18-35340299-C-G		not specified	Uncertain significance (Dec 01, 2022)
18-35340340-A-G		not specified	Uncertain significance (Aug 30, 2021)
18-35340346-G-A		not specified	Uncertain significance (Jan 15, 2025)
18-35340370-A-T		not specified	Uncertain significance (Jul 16, 2024)
18-35340430-C-T		not specified	Uncertain significance (Oct 08, 2024)
18-35340531-G-C		not specified	Uncertain significance (May 24, 2023)
18-35340548-C-T		not specified	Uncertain significance (Feb 05, 2024)
18-35340576-T-A		not specified	Uncertain significance (Apr 18, 2024)
18-35340607-G-T		not specified	Uncertain significance (Jan 19, 2025)
18-35340627-T-A		not specified	Uncertain significance (Apr 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF24	protein_coding	protein_coding	ENST00000261332	3	13271

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.981	0.0189	125683	0	3	125686	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.05	114	194	0.587	0.0000102	2405
Missense in Polyphen		6	19.808	0.3029		222
Synonymous	0.564	64	70.0	0.914	0.00000347	710
Loss of Function	3.83	2	20.9	0.0955	0.00000155	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro. {ECO:0000250, ECO:0000269|PubMed:10585455}.

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.123
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.339
• hipred: Y
• hipred_score: 0.598
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.939

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp24
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; 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); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype

Gene ontology

• Biological process: myelination;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;protein binding;zinc ion binding;sequence-specific DNA binding