ZNF658

zinc finger protein 658, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:66856425-66932141

Links

ENSG00000274349 ∙ NCBI:26149 ∙ OMIM:616290 ∙ HGNC:25226 ∙ Uniprot:Q5TYW1 ∙ 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 ZNF658 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF658 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				2		2
missense			66	4		70
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	66	6	0

Variants in ZNF658

This is a list of pathogenic ClinVar variants found in the ZNF658 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-66908251-T-G		not specified	Uncertain significance (Oct 05, 2022)
9-66908259-G-A		not specified	Uncertain significance (Jul 13, 2022)
9-66908259-G-C		not specified	Uncertain significance (Mar 06, 2023)
9-66908275-C-A		not specified	Uncertain significance (May 24, 2023)
9-66908294-C-A		not specified	Uncertain significance (Dec 08, 2023)
9-66908654-A-C		not specified	Uncertain significance (Nov 18, 2022)
9-66908696-G-T		not specified	Uncertain significance (Nov 17, 2023)
9-66908704-G-A		not specified	Uncertain significance (May 08, 2023)
9-66917837-C-T		not specified	Likely benign (Jul 16, 2021)
9-66917910-G-T		not specified	Uncertain significance (Nov 17, 2022)
9-66917976-G-A		not specified	Uncertain significance (Jul 20, 2021)
9-66918006-C-T		not specified	Uncertain significance (Aug 12, 2021)
9-66918045-C-T		not specified	Uncertain significance (Apr 05, 2023)
9-66918140-G-A		not specified	Uncertain significance (Feb 27, 2024)
9-66918198-T-G		not specified	Uncertain significance (Apr 22, 2022)
9-66918263-C-A		not specified	Uncertain significance (Jan 03, 2024)
9-66918338-T-A		not specified	Uncertain significance (Nov 21, 2022)
9-66918360-C-T		not specified	Uncertain significance (Dec 21, 2023)
9-66918398-T-A		not specified	Uncertain significance (Jul 26, 2021)
9-66918414-C-A		not specified	Uncertain significance (Dec 12, 2023)
9-66918431-A-G		not specified	Uncertain significance (Apr 08, 2024)
9-66918441-T-C		not specified	Uncertain significance (Jun 22, 2021)
9-66918466-T-G		not specified	Uncertain significance (Dec 05, 2022)
9-66918521-A-G		not specified	Uncertain significance (Aug 14, 2023)
9-66918522-T-C		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5'- C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc- demanding process with the available zinc supply. {ECO:0000269|PubMed:25582195}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.164

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.390

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp735

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;ribosome biogenesis;negative regulation of transcription, DNA-templated;cellular response to zinc ion
• Cellular component: nucleus
• Molecular function: transcription regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding