ZNF318

protein-coding

zinc finger protein 318, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable protein heterodimerization activity and protein homodimerization activity. Predicted to be involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014345.3

Inheritance

—

ClinVar variants

U:334B:24

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr6:43,307,134-43,369,647

External References & Databases

Ensembl (ENSG00000171467)

Transcript & Mutation Effects

hg38 • Region Span ~62.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF318 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 341

not providedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014345.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	2 clinvar	7
missense			327 clinvar	16 clinvar	1 clinvar	344
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	334	21	3	358

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014345.3	RefSeq	NP_055160.2	10	MANE Select
ENST00000361428.3	Ensembl	ENSP00000354964.2	10	MANE Select
ENST00000605935.5	Ensembl	ENSP00000475748.1	8	Standard
ENST00000606599.1	Ensembl	ENSP00000475511.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Androgen receptor signaling pathway
Coregulation of Androgen receptor activity

Biological Process

negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
meiotic cell cycle

Molecular Function

nucleic acid binding
zinc ion binding
protein homodimerization activity

Cellular Component

nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361428
Coding exons: 10
Length: 62345
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 40
Defined: 125748
p: 0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.203	1139	1.16e+3	0.983	0.0000624	14778
Missense (PolyPhen)		299	390.67	0.76535		4888
Synonymous	-1.64	464	421	1.10	0.0000205	4693
Loss of Function	6.21	17	75.1	0.226	0.00000490	963

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00013	0.00013	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform 2: Acts as a transcriptional corepressor for AR- mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. {ECO:0000250|UniProtKB:Q99PP2}.;

Recessive Scores

pRec: 0.0889

Intolerance Scores

LoFtool: 0.690
RVIS EVS: -1.69
RVIS percentile EVS: 2.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.549

Gene Damage Prediction

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