ZNF182

zinc finger protein 182, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): X:47974851-48003989

Previous symbols: [ "ZNF21" ]

Links

ENSG00000147118 ∙ NCBI:7569 ∙ OMIM:314993 ∙ HGNC:13001 ∙ Uniprot:P17025 ∙ 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 ZNF182 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF182 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				1		1
missense			9	1		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	0

Variants in ZNF182

This is a list of pathogenic ClinVar variants found in the ZNF182 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-47976210-T-C		not specified	Uncertain significance (Aug 28, 2024)
X-47976226-C-A		not specified	Uncertain significance (Feb 12, 2025)
X-47976318-C-T		not specified	Uncertain significance (Oct 03, 2024)
X-47976320-T-C			Likely benign (Jun 01, 2022)
X-47976348-C-T		not specified	Uncertain significance (Dec 07, 2024)
X-47976399-G-A		not specified	Uncertain significance (Feb 16, 2023)
X-47976776-T-G		not specified	Uncertain significance (Feb 25, 2025)
X-47976834-A-G		not specified	Uncertain significance (Dec 07, 2024)
X-47976864-C-T		not specified	Uncertain significance (Nov 11, 2024)
X-47977545-T-C		not specified	Uncertain significance (Jan 22, 2024)
X-47977557-C-T		not specified	Uncertain significance (Jun 28, 2023)
X-47977586-C-T		not specified	Uncertain significance (Oct 12, 2021)
X-47977654-G-C		not specified	Uncertain significance (Feb 12, 2025)
X-47977683-C-T		not specified	Likely benign (May 26, 2023)
X-47983299-T-C		not specified	Uncertain significance (Mar 08, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF182	protein_coding	protein_coding	ENST00000396965	4	29128

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.984	0.0159	125441	2	4	125447	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	156	222	0.703	0.0000154	4239
Missense in Polyphen		58	106	0.54718		1986
Synonymous	0.466	75	80.3	0.934	0.00000600	1133
Loss of Function	3.59	1	17.0	0.0589	0.00000130	362

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000373	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000551	0.0000328
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.467
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.409
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp182
• Phenotype: hematopoietic system phenotype; vision/eye phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding