TASOR2

protein-coding

transcription activation suppressor family member 2

Gene summary

Enables protein-macromolecule adaptor activity. Involved in negative regulation of gene expression, epigenetic and negative regulation of type I interferon production. Located in cytosol and nucleoplasm. Part of HUSH2 complex. Is active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C10orf18
FAM208B

MANE transcript

NM_001321783.2

Inheritance

—

ClinVar variants

U:330B:41

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr10:5,684,731-5,763,779

External References & Databases

Ensembl (ENSG00000108021)

Transcript & Mutation Effects

hg38 • Region Span ~79.0 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 TASOR2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 355

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001321783.2. 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	2 clinvar		3
missense			323 clinvar	39 clinvar		362
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	330	41	0	371

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001321783.2	RefSeq	NP_001308712.2	18	MANE Select
ENST00000695737.1	Ensembl	ENSP00000512130.1	18	MANE Select
NM_001321784.2	RefSeq	NP_001308713.2	18	Standard
NM_001321785.2	RefSeq	NP_001308714.2	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleus
nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328090
Coding exons: 18
Length: 78903
Individuals with no LoFs: 124773
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 124794
p: 0.0000841

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0893	1232	1.22e+3	1.01	0.0000613	15860
Missense (PolyPhen)		207	235.71	0.87819		3468
Synonymous	-1.56	516	473	1.09	0.0000258	4806
Loss of Function	6.69	20	87.6	0.228	0.00000452	1211

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000098	0.000097	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0759

Intolerance Scores

RVIS EVS: 2.83
RVIS percentile EVS: 99.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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