TASOR2

Summary

TASOR2 (transcription activation suppressor family member 2, HGNC:23484) is a protein-coding gene on chromosome 10p15.1, encoding Protein TASOR 2 (Q5VWN6). Core component of the HUSH2 complex, a multiprotein complex that mediates epigenetic repression of interferon-stimulated genes.

Predicted to be involved in negative regulation of gene expression, epigenetic. Located in cytosol and nucleoplasm.

Source: NCBI Gene 54906 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 380 total
• MANE Select transcript: NM_001321783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23484
Approved symbol	TASOR2
Name	transcription activation suppressor family member 2
Location	10p15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20360, bA318E3.2, KIAA2006
Ensembl gene	ENSG00000108021
Ensembl biotype	protein_coding
OMIM	621243
Entrez	54906

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 21 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000328090, ENST00000380270, ENST00000459693, ENST00000463468, ENST00000473789, ENST00000477043, ENST00000480839, ENST00000482419, ENST00000487196, ENST00000496681, ENST00000527124, ENST00000532080, ENST00000645567, ENST00000695737, ENST00000695832, ENST00000695833, ENST00000695834, ENST00000695835, ENST00000695836, ENST00000695837, ENST00000699050, ENST00000699051, ENST00000873841, ENST00000914613, ENST00000914614, ENST00000914615, ENST00000914616, ENST00000914617, ENST00000914618, ENST00000914619, ENST00000914620

RefSeq mRNA: 5 — MANE Select: NM_001321783 NM_001321783, NM_001321784, NM_001321785, NM_001387328, NM_017782

CCDS: CCDS41485, CCDS91208, CCDS91209

Canonical transcript exons

ENST00000695737 — 22 exons

Exon	Start	End
ENSE00003964581	5717659	5717750
ENSE00003964583	5720544	5720668
ENSE00003964584	5714135	5714207
ENSE00003964587	5712823	5712918
ENSE00003964869	5762532	5762646
ENSE00003964870	5739618	5740497
ENSE00003964871	5746179	5750027
ENSE00003964872	5735304	5735546
ENSE00003964873	5758887	5758992
ENSE00003964874	5727061	5727123
ENSE00003964875	5723677	5723777
ENSE00003964876	5720871	5720970
ENSE00003964877	5726885	5726957
ENSE00003964878	5724430	5724533
ENSE00003964879	5761290	5761471
ENSE00003964880	5720755	5720774
ENSE00003964881	5756613	5756738
ENSE00003964885	5730487	5731203
ENSE00003964887	5757520	5757673
ENSE00003964888	5742097	5742526
ENSE00003965156	5684838	5685175
ENSE00003965173	5763029	5763740

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4355 / max 433.1438, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103649	28.0762	1815
103648	1.0732	637
103651	0.2861	124

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.55	gold quality
oocyte	CL:0000023	97.99	gold quality
sural nerve	UBERON:0015488	97.04	gold quality
calcaneal tendon	UBERON:0003701	96.70	gold quality
tibia	UBERON:0000979	96.46	gold quality
colonic epithelium	UBERON:0000397	94.86	gold quality
corpus epididymis	UBERON:0004359	94.72	gold quality
adrenal tissue	UBERON:0018303	94.01	gold quality
epithelium of nasopharynx	UBERON:0001951	93.79	gold quality
cauda epididymis	UBERON:0004360	93.47	gold quality
tonsil	UBERON:0002372	92.42	gold quality
superficial temporal artery	UBERON:0001614	92.16	gold quality
choroid plexus epithelium	UBERON:0003911	92.14	gold quality
cartilage tissue	UBERON:0002418	91.82	gold quality
oviduct epithelium	UBERON:0004804	91.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.41	gold quality
corpus callosum	UBERON:0002336	91.39	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.24	gold quality
hair follicle	UBERON:0002073	91.22	gold quality
blood vessel layer	UBERON:0004797	91.20	gold quality
caput epididymis	UBERON:0004358	91.16	gold quality
pigmented layer of retina	UBERON:0001782	91.11	gold quality
visceral pleura	UBERON:0002401	90.71	gold quality
skin of hip	UBERON:0001554	90.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.31	gold quality
pericardium	UBERON:0002407	90.24	gold quality
bone marrow cell	CL:0002092	90.19	gold quality
pleura	UBERON:0000977	90.14	gold quality
sperm	CL:0000019	90.10	gold quality
urethra	UBERON:0000057	89.95	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	480.60
E-ANND-3	yes	6.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting TASOR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-494-3P	99.70	71.45	2795

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tasor2	ENSDARG00000074168
mus_musculus	Tasor2	ENSMUSG00000033799
rattus_norvegicus	Tasor2	ENSRNOG00000018011
caenorhabditis_elegans		WBGENE00011720

Paralogs (1): TASOR (ENSG00000163946)

Protein

Protein identifiers

Protein TASOR 2 — Q5VWN6 (reviewed: Q5VWN6)

All UniProt accessions (12): Q5VWN6, A0A1D5RMU0, A0A2R8YCL4, A0A2R8YCW7, A0A2R8YH03, A0A8Q3SI29, A0A8Q3SI30, A0A8Q3SI42, A0A8Q3SI68, A0A8Q3SI84, A0A8V8TMM4, A0A8V8TMN1

UniProt curated annotations — full annotation on UniProt →

Function. Core component of the HUSH2 complex, a multiprotein complex that mediates epigenetic repression of interferon-stimulated genes. TASOR2 is recruited to interferon-stimulated genes by IRF2, leading to transcriptional silencing by the HUSH2 complex via a H3K9me3-independent mechanism. Within the HUSH2 complex, TASOR2 acts as the central scaffold, which recruits MPHOSPH8 and PPHLN1.

Subunit / interactions. Core component of the HUSH2 complex; composed of TASOR2, PPHLN1 and MPHOSPH8. Interacts with IRF2; promoting recruitment of the HUSH2 complex to interferon-stimulated genes.

Subcellular location. Nucleus. Chromosome.

Similarity. Belongs to the TASOR family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VWN6-1	1	yes
Q5VWN6-2	2

RefSeq proteins (5): NP_001308712, NP_001308713, NP_001308714, NP_001374257, NP_060252 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022168	GARIL-like_Rab2B-bd	Domain
IPR022188	TASOR_DUF3715	Domain
IPR046432	TASOR	Family
IPR056242	PIN_TASOR	Domain
IPR056243	TASOR_ab_dom	Domain

Pfam: PF12480, PF12509, PF23314, PF24630

UniProt features (40 total): modified residue 13, sequence variant 11, region of interest 6, sequence conflict 5, compositionally biased region 2, chain 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VWN6-F1	40.57	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (14): 219, 384, 685, 1025, 1087, 1172, 1541, 1848, 2009, 2037, 2062, 2066, 2007, 19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_NEGATIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_CYTOKINE_PRODUCTION, SENESE_HDAC1_TARGETS_UP, GOBP_CHROMATIN_REMODELING, GOBP_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, chr10p15, THUM_SYSTOLIC_HEART_FAILURE_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, HAMAI_APOPTOSIS_VIA_TRAIL_UP

GO Biological Process (2): negative regulation of type I interferon production (GO:0032480), negative regulation of gene expression, epigenetic (GO:0045814)

GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), HUSH2 complex (GO:0140286)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of cytokine production	1
regulation of type I interferon production	1
type I interferon production	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
protein binding	1
molecular adaptor activity	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
chromatin silencing complex	1

Protein interactions and networks

STRING

886 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TASOR2	ARL9	Q6T311	447
TASOR2	LSMEM2	Q8N112	446
TASOR2	TMEM208	Q9BTX3	437
TASOR2	ASB13	Q8WXK3	397
TASOR2	ZNF599	Q96NL3	395
TASOR2	URB1	O60287	382
TASOR2	SLC23A2	Q9UGH3	364
TASOR2	SLC66A1	Q6ZP29	360
TASOR2	OR4C6	Q8NH72	354
TASOR2	ZZZ3	Q8IYH5	352
TASOR2	PCNX3	Q9H6A9	349
TASOR2	TEX15	Q9BXT5	348
TASOR2	SPOCD1	Q6ZMY3	341
TASOR2	CCDC30	Q5VVM6	336
TASOR2	SYNE2	Q8WXH0	335

IntAct

261 interactions, top by confidence:

A	B	Type	Score
ERH	TASOR2	psi-mi:“MI:0915”(physical association)	0.800
MLH1	TASOR2	psi-mi:“MI:0915”(physical association)	0.720
COX5B	TASOR2	psi-mi:“MI:0915”(physical association)	0.670
TASOR2	AIRIM	psi-mi:“MI:0915”(physical association)	0.670
ZNF597	TASOR2	psi-mi:“MI:0914”(association)	0.640
TASOR2	BTN2	psi-mi:“MI:0915”(physical association)	0.560
CTR9	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
BTN2	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	CTR9	psi-mi:“MI:0915”(physical association)	0.560
HGS	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	TRIM74	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	PIH1D2	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	MDFI	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	USHBP1	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	ARMC7	psi-mi:“MI:0915”(physical association)	0.560
RFC5	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	KCTD9	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	CARD9	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	TASOR2	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	PIK3R3	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	TSEN15	psi-mi:“MI:0915”(physical association)	0.560
TASOR2	MID2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (136): FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), FAM208B (Two-hybrid), CARD9 (Two-hybrid), ATRIP (Two-hybrid), FBF1 (Two-hybrid)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: Q2T9I9, Q5DTT3, Q5VWN6, Q69ZR9, Q9UK61

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

380 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	301
Likely benign	40
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3891 predictions. Top by Δscore:

Variant	Effect	Δscore
10:5685171:GACGG:G	donor_gain	1.0000
10:5685172:ACGG:A	donor_gain	1.0000
10:5685173:CGG:C	donor_gain	1.0000
10:5685173:CGGGT:C	donor_loss	1.0000
10:5685174:GG:G	donor_gain	1.0000
10:5685174:GGG:G	donor_gain	1.0000
10:5685175:GG:G	donor_gain	1.0000
10:5685175:GGTA:G	donor_loss	1.0000
10:5685176:G:C	donor_loss	1.0000
10:5685176:G:GG	donor_gain	1.0000
10:5709529:GC:G	acceptor_gain	1.0000
10:5709662:GA:G	donor_gain	1.0000
10:5709664:G:GG	donor_gain	1.0000
10:5712821:A:AG	acceptor_gain	1.0000
10:5712822:G:GA	acceptor_gain	1.0000
10:5712822:GTACA:G	acceptor_gain	1.0000
10:5712915:GCAG:G	donor_gain	1.0000
10:5714130:TAAA:T	acceptor_loss	1.0000
10:5714133:A:AG	acceptor_gain	1.0000
10:5714134:G:GG	acceptor_gain	1.0000
10:5714134:G:GT	acceptor_loss	1.0000
10:5720254:TTCTA:T	acceptor_loss	1.0000
10:5720255:TCTA:T	acceptor_loss	1.0000
10:5720256:CTA:C	acceptor_loss	1.0000
10:5720257:TAG:T	acceptor_loss	1.0000
10:5720258:A:AG	acceptor_gain	1.0000
10:5720258:AG:A	acceptor_gain	1.0000
10:5720259:G:GG	acceptor_gain	1.0000
10:5720259:G:GT	acceptor_loss	1.0000
10:5720259:GG:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000025150 (10:5722639 G>A), RS1000057828 (10:5764170 G>A), RS1000076581 (10:5692744 A>G), RS1000120070 (10:5706406 A>G), RS1000236510 (10:5716336 T>A), RS1000238430 (10:5728731 G>A), RS1000246419 (10:5724002 T>C), RS1000253908 (10:5709870 C>T), RS1000276739 (10:5683207 A>T), RS1000335988 (10:5753374 G>A,T), RS1000391463 (10:5710112 T>G), RS1000411620 (10:5759146 T>C), RS1000416459 (10:5703634 T>G), RS1000426634 (10:5699475 T>A), RS1000440074 (10:5746701 C>T)

Disease associations

OMIM: gene MIM:621243 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002056_5	Osteosarcoma	8.000000e-06
GCST006624_96	Systolic blood pressure	3.000000e-08
GCST007505_20	Nevus count or cutaneous melanoma	2.000000e-08
GCST010303_47	Nevus count or cutaneous melanoma	8.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004632	nevus count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases methylation, decreases expression, decreases methylation	2
Formaldehyde	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression, increases expression	1
arsenite	decreases reaction, affects binding	1
coumarin	increases phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
jinfukang	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Bortezomib	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Thimerosal	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.