ZNF322

zinc finger protein 322, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:26634383-26659752

Previous symbols: [ "ZNF489", "ZNF388", "HCG12", "ZNF322A" ]

Links

ENSG00000181315 ∙ NCBI:79692 ∙ OMIM:610847 ∙ HGNC:23640 ∙ Uniprot:Q6U7Q0 ∙ 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 ZNF322 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF322 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			12	2		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	0

Variants in ZNF322

This is a list of pathogenic ClinVar variants found in the ZNF322 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-26637370-G-A		not specified	Uncertain significance (Oct 27, 2023)
6-26637381-G-C		not specified	Uncertain significance (Jan 08, 2024)
6-26637407-C-T		not specified	Uncertain significance (Jan 08, 2024)
6-26637421-G-A		not specified	Uncertain significance (Dec 20, 2021)
6-26637423-T-G		not specified	Uncertain significance (Jul 25, 2023)
6-26637502-T-C		not specified	Uncertain significance (Jul 12, 2023)
6-26637631-A-C		not specified	Uncertain significance (Mar 25, 2024)
6-26637643-C-T		not specified	Uncertain significance (May 27, 2022)
6-26638033-C-T		not specified	Uncertain significance (Dec 13, 2023)
6-26638178-A-C		not specified	Uncertain significance (Feb 14, 2025)
6-26638330-A-G		not specified	Uncertain significance (Sep 09, 2024)
6-26638363-G-A		not specified	Uncertain significance (Apr 19, 2024)
6-26638442-T-C		not specified	Uncertain significance (Sep 14, 2022)
6-26638447-A-G		not specified	Likely benign (Jun 07, 2024)
6-26638486-C-T		not specified	Likely benign (Jul 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF322	protein_coding	protein_coding	ENST00000415922	1	23463

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0299	0.929	125553	0	20	125573	0.0000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.82	100	166	0.603	0.00000801	2674
Missense in Polyphen		21	42.814	0.4905		848
Synonymous	0.377	52	55.6	0.936	0.00000294	662
Loss of Function	1.76	4	10.0	0.400	4.94e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000806	0.0000793
Middle Eastern	0.0000544	0.0000544
South Asian	0.000136	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator (PubMed:15555580). Important for maintenance of pluripotency in embryonic stem cells (By similarity). Binds directly to the POU5F1 distal enhancer and the NANOG proximal promoter, and enhances expression of both genes (By similarity). Can also bind to numerous other gene promoters and regulates expression of many other pluripotency factors, either directly or indirectly (By similarity). Promotes inhibition of MAPK signaling during embryonic stem cell differentiation (By similarity). {ECO:0000250|UniProtKB:Q8BZ89, ECO:0000269|PubMed:15555580}.

Recessive Scores

• pRec: 0.100

Haploinsufficiency Scores

• pHI: 0.328
• ghis: 0.549

Essentials

• essential_gene_CRISPR: 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: Zfp322a

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;positive regulation of stem cell population maintenance
• Cellular component: nucleus;centrosome;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;enhancer binding;metal ion binding