ST18

protein-coding

ST18 C2H2C-type zinc finger transcription factor, the group of Zinc fingers C2H2C-type

Gene summary

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cytokine-mediated signaling pathway; negative regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

ZNF387

MANE transcript

NM_001352837.2

Inheritance

—

ClinVar variants

U:143B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr8:52,110,838-52,460,959

External References & Databases

Ensembl (ENSG00000147488)

Transcript & Mutation Effects

hg38 • Region Span ~350.1 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 ST18 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 145

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001352837.2. 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			1 clinvar	1 clinvar	1 clinvar	3
missense			140 clinvar	7 clinvar	1 clinvar	148
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	143	8	2	153

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 96 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001352837.2	RefSeq	NP_001339766.1	20	MANE Select
ENST00000689386.1	Ensembl	ENSP00000509475.1	20	MANE Select
NM_001352826.2	RefSeq	NP_001339755.1	20	Standard
NM_001352827.2	RefSeq	NP_001339756.1	20	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
negative regulation of cell population proliferation
tumor necrosis factor-mediated signaling pathway
positive regulation of transcription by RNA polymerase II
interleukin-6-mediated signaling pathway

Molecular Function

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II proximal promoter sequence-specific DNA binding
DNA-binding transcription factor activity, RNA polymerase II-specific
DNA-binding transcription activator activity, RNA polymerase II-specific
zinc ion binding

Cellular Component

nucleus
protein-DNA complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000276480
Coding exons: 20
Length: 350121
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125747
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.246	559	576	0.971	0.0000300	6950
Missense (PolyPhen)		196	229.37	0.85453		2737
Synonymous	-0.336	219	213	1.03	0.0000119	1977
Loss of Function	5.56	8	50.8	0.158	0.00000281	611

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.000067	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells. {ECO:0000250, ECO:0000269|PubMed:15489893}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.310
RVIS EVS: -0.61
RVIS percentile EVS: 17.5

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.801

Gene Damage Prediction

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