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.

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.

Source: NCBI Gene 54906 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 380 total (top 9% of genes corpus-wide)
• Regional missense constraint (gnomAD): 1 of 3 regions constrained (≈1% of expected missense variation)
• GTEx eGene: eQTL in 9 tissues, sQTL in 4 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.46 (moderately constrained)
• MANE Select transcript: NM_001321783
• Notable: 380 clinical variants but no curated precision-oncology (CIViC) evidence yet

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: 32 — 22 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay

MANE Select: ENST00000695737

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 3, TSL 3: 5, TSL 5: 2

ENST00000695737, ENST00000328090, ENST00000380270, ENST00000459693, ENST00000463468, ENST00000473789, ENST00000477043, ENST00000480839, ENST00000482419, ENST00000487196, ENST00000496681, ENST00000527124, ENST00000532080, ENST00000645567, ENST00000695832, ENST00000695833, ENST00000695834, ENST00000695835, ENST00000695836, ENST00000695837, ENST00000699050, ENST00000699051, ENST00000873841, ENST00000914613, ENST00000914614, ENST00000914615, ENST00000914616, ENST00000914617, ENST00000914618, ENST00000914619, ENST00000914620, ENST00001143089

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.

Highest expression (Bgee): secondary oocyte, oocyte, sural nerve, calcaneal tendon, tibia.

Genetic regulation across tissues (GTEx eQTL / sQTL)

TASOR2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 9 tissues and its splicing (sQTL) in 4 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	sqtl	1.0e-08	-0.36	10:5806875:T:C
Skin Not Sun Exposed Suprapubic	sqtl	1.0e-07	-0.38	10:5713869:C:T
Cells Cultured fibroblasts	eqtl	3.3e-07	+0.15	10:5684858:G:A
Testis	sqtl	7.6e-06	+0.39	10:5762492:A:G
Nerve Tibial	eqtl	9.9e-04	-0.23	10:5752512:A:G
Brain Cerebellum	eqtl	1.4e-03	+0.25	10:5684858:G:A
Skin Not Sun Exposed Suprapubic	eqtl	2.7e-03	+0.12	10:5664513:C:CAT
Brain Nucleus accumbens basal ganglia	eqtl	4.8e-03	+0.16	10:5524306:G:T
Adipose Subcutaneous	eqtl	1.0e-02	+0.15	10:5684858:G:A
Brain Amygdala	sqtl	1.2e-02	-3.19	10:4945507:A:G
Artery Tibial	eqtl	2.7e-02	-0.10	10:5305418:G:A
Esophagus Muscularis	eqtl	3.6e-02	-0.43	10:5111482:T:G
Thyroid	eqtl	5.0e-02	-0.23	10:6213854:T:C

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

showing 100 of 287 tissues 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
endometrium	UBERON:0001295	89.92	gold quality
seminal vesicle	UBERON:0000998	89.74	gold quality
cervix epithelium	UBERON:0004801	89.71	gold quality
parietal pleura	UBERON:0002400	89.65	gold quality
male germ cell	CL:0000015	89.53	gold quality
germinal epithelium of ovary	UBERON:0001304	89.43	gold quality
fallopian tube	UBERON:0003889	89.03	gold quality
lower lobe of lung	UBERON:0008949	88.99	gold quality
colonic mucosa	UBERON:0000317	88.94	gold quality
palpebral conjunctiva	UBERON:0001812	88.94	gold quality
uterine cervix	UBERON:0000002	88.84	gold quality
tendon	UBERON:0000043	88.83	gold quality
trigeminal ganglion	UBERON:0001675	88.66	gold quality
superior surface of tongue	UBERON:0007371	88.60	gold quality
uterus	UBERON:0000995	88.44	gold quality
cervix squamous epithelium	UBERON:0006922	88.24	gold quality
bronchial epithelial cell	CL:0002328	88.20	gold quality
oral cavity	UBERON:0000167	88.18	gold quality
urinary bladder	UBERON:0001255	88.18	gold quality
synovial joint	UBERON:0002217	88.00	gold quality
thyroid gland	UBERON:0002046	87.99	gold quality
adenohypophysis	UBERON:0002196	87.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.86	gold quality
left lobe of thyroid gland	UBERON:0001120	87.75	gold quality
pituitary gland	UBERON:0000007	87.73	gold quality
body of pancreas	UBERON:0001150	87.72	gold quality
gingival epithelium	UBERON:0001949	87.72	gold quality
esophagus squamous epithelium	UBERON:0006920	87.59	gold quality
testis	UBERON:0000473	87.57	gold quality
jejunum	UBERON:0002115	87.56	gold quality
gingiva	UBERON:0001828	87.52	gold quality
periodontal ligament	UBERON:0008266	87.50	gold quality
female reproductive system	UBERON:0000474	87.44	gold quality
squamous epithelium	UBERON:0006914	87.34	gold quality
pylorus	UBERON:0001166	87.33	gold quality
pancreas	UBERON:0001264	87.25	gold quality
lymph node	UBERON:0000029	87.19	gold quality
embryo	UBERON:0000922	87.17	gold quality
myometrium	UBERON:0001296	87.17	gold quality
ovary	UBERON:0000992	87.05	gold quality
right lobe of thyroid gland	UBERON:0001119	86.92	gold quality
islet of Langerhans	UBERON:0000006	86.90	gold quality
placenta	UBERON:0001987	86.88	gold quality
mammalian vulva	UBERON:0000997	86.86	gold quality
mucosa of urinary bladder	UBERON:0001259	86.81	gold quality
parotid gland	UBERON:0001831	86.66	gold quality
lung	UBERON:0002048	86.62	gold quality
right testis	UBERON:0004534	86.60	gold quality
primary visual cortex	UBERON:0002436	86.51	gold quality
rectum	UBERON:0001052	86.50	gold quality
jejunal mucosa	UBERON:0000399	86.49	gold quality
vermiform appendix	UBERON:0001154	86.49	gold quality
thoracic mammary gland	UBERON:0005200	86.49	gold quality
caecum	UBERON:0001153	86.46	gold quality
mammary gland	UBERON:0001911	86.46	gold quality
endothelial cell	CL:0000115	86.43	gold quality
left uterine tube	UBERON:0001303	86.42	gold quality
left testis	UBERON:0004533	86.41	gold quality
epithelium of esophagus	UBERON:0001976	86.40	gold quality
cardia of stomach	UBERON:0001162	86.37	gold quality
prostate gland	UBERON:0002367	86.31	gold quality
penis	UBERON:0000989	86.28	gold quality
body of uterus	UBERON:0009853	86.28	gold quality
stromal cell of endometrium	CL:0002255	86.23	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.20	gold quality
tongue	UBERON:0001723	86.14	gold quality
descending thoracic aorta	UBERON:0002345	86.14	gold quality
upper leg skin	UBERON:0004262	86.09	gold quality
large intestine	UBERON:0000059	85.99	gold quality
colon	UBERON:0001155	85.98	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	59.9
Postcentral gyrus	tissue	58.8
Nucleus accumbens	tissue	49.8
Locus coeruleus	tissue	44.5
Hippocampus	tissue	44.4	low
Testis	tissue	21.3	medium
Tonsil	tissue	15.2	medium
Urinary bladder	tissue	14.3	medium
Thyroid gland	tissue	14.2	medium
Lymph node	tissue	14.0	medium
Cerebellum	tissue	13.6	medium
Tongue	tissue	13.0
Thymus	tissue	12.4
Parathyroid gland	tissue	12.3	medium
Epididymis	tissue	12.2	medium
Bone marrow	tissue	12.1	medium
Retina	tissue	11.9
Cervix	tissue	11.3	medium
Cerebral cortex	tissue	11.3	medium
Somatosensory cortex	tissue	11.3
Occipital cortex	tissue	11.3
Motor cortex	tissue	11.2
Insular cortex	tissue	11.2
Smooth muscle	tissue	11.1	not detected
Olfactory bulb	tissue	11.1
Temporal cortex	tissue	10.8
Placenta	tissue	10.7	medium
Prefrontal cortex	tissue	10.6
Retrosplenial and cingulate cortex	tissue	10.6
Retrosplenial cortex	tissue	10.6
Hippocampal formation	tissue	10.5
Entorhinal cortex	tissue	10.5
Breast	tissue	10.4	medium
Endometrium 1	tissue	10.4	medium
Rectum	tissue	10.1	medium
Appendix	tissue	10.1	medium
Basal ganglia	tissue	9.7	medium
Ventral forebrain	tissue	9.7
Pituitary gland	tissue	9.6
Amygdala	tissue	9.6
Seminal vesicle	tissue	9.3	medium
Putamen	tissue	9.3
Fallopian tube	tissue	9.3	medium
Ovary	tissue	9.2	not detected
Liver	tissue	9.1	medium
Colon	tissue	9.0	medium
Pancreas	tissue	9.0	medium
Gallbladder	tissue	8.7	medium
Septum	tissue	8.6
Spleen	tissue	8.4	medium
Stomach 1	tissue	8.2	low
Superior colliculi	tissue	8.2
Adipose tissue	tissue	8.1	low
Corpus callosum	tissue	8.1
Prostate	tissue	8.1	medium
Esophagus	tissue	8.0	medium
Midbrain	tissue	8.0
Hypothalamus	tissue	8.0
Heart muscle	tissue	7.9	medium
Thalamus	tissue	7.9

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Vermis (79.7), Flocculonodular lobe (77.8), Cerebellar cortex (77.2), Somatomor cortex, precentral gyrus (white matter) (61.2), Somatosensory cortex, postcentral gyrus, ventral (white matter) (61.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting TASOR2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 54 miRNAs:

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

Functional genomics

gnomAD constraint: pLI 0.995, LOEUF 0.463, missense Z 1.21 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000328090 splits into 3 regions with different missense tolerance; 1 is missense-constrained (≈1% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
10:5,720,643–5,740,466	847 / 887.4	0.95	no
10:5,740,467–5,742,126	8 / 23.6	0.34	yes (p 1.3e-03)
10:5,742,127–5,763,029	1941 / 1924.9	1.01	no

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)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2145274) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal vocalization	1
abnormal coat/hair pigmentation	1
increased vertical activity	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Xenopus laevis	Q2T9I9	43.0%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
TRV-TAC3-1	tRNA	100189342
GDI2	protein-coding	2665
ASB13	protein-coding	79754
LINC02677	ncRNA	102723629
LINC02678	ncRNA	105376383
ANKRD16	protein-coding	54522

Protein

Protein identifiers

Protein TASOR 2 — Q5VWN6 (reviewed: Q5VWN6)

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

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

Predicted structure (AlphaFold)

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

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol

Antibody reliability (HPA): IH uncertain · IF enhanced

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)

Type	Positions
Phosphoserine	219, 384, 685, 1025, 1087, 1172, 1541, 1848, 2009, 2037, 2062, 2066, 19
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	2007

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

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 (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), HUSH2 complex (GO:0140286), chromosome (GO:0005694)

GO top-level categories

15 GO namespaces:

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
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 8 of 10 annotations. The rest are phylogenetic / computational / electronic (IEA).

8 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of gene expression, epigenetic	BP	direct assay
negative regulation of type I interferon production	BP	direct assay
HUSH2 complex	CC	direct assay
chromatin	CC	direct assay
cytosol	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay
protein-macromolecule adaptor activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 582 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TASOR2	URB1	O60287	407
TASOR2	ASB13	Q8WXK3	403
TASOR2	ARL9	Q6T311	400
TASOR2	ZZZ3	Q8IYH5	394
TASOR2	SLC23A2	Q9UGH3	379
TASOR2	LSMEM2	Q8N112	357
TASOR2	TMEM208	Q9BTX3	356
TASOR2	SLC66A1	Q6ZP29	341
TASOR2	TEX15	Q9BXT5	330
TASOR2	PCNX3	Q9H6A9	324
TASOR2	NOAZFP	Q9Y3S2	312
TASOR2	SYNE2	Q8WXH0	306
TASOR2	ZNF599	Q96NL3	306
TASOR2	DOCK10	Q96BY6	301
TASOR2	RBM48	Q5RL73	285

IntAct

Human interaction partners of TASOR2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 61 partners by confidence:

Partner	Interaction type	MIscore	Records
ERH	physical association	0.800	6
MLH1	physical association	0.720	6
COX5B	physical association	0.670	4
AIRIM	physical association	0.670	3
ZNF597	association	0.640	1
IRF2	physical association	0.620	1
HTT	physical association	0.560	12
KIFC3	physical association	0.560	6
TARDBP	physical association	0.560	6
PIH1D2	physical association	0.560	5
PIK3R3	physical association	0.560	5
NEK6	physical association	0.560	4
ARMC7	physical association	0.560	3
BTN2	physical association	0.560	3
CARD9	physical association	0.560	3
CFAP206	physical association	0.560	3
CTNNA3	physical association	0.560	3
CTR9	physical association	0.560	3
DMWD	physical association	0.560	3
GFAP	physical association	0.560	3
GPRASP3	physical association	0.560	3
GPSM1	physical association	0.560	3
GRN	physical association	0.560	3
HGS	physical association	0.560	3
HSF2BP	physical association	0.560	3
HSPB1	physical association	0.560	3
HTRA2	physical association	0.560	3
JPH3	physical association	0.560	3
KCTD9	physical association	0.560	3
KIF1B	physical association	0.560	3

Disease & clinical

Genetic variants

Variant evidence for TASOR2: 380 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

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

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 2,216):

Position(s)	Effect	Δscore	Sites
10:5685176–5685177	donor_loss	1.0000	3
10:5714133	acceptor_gain	1.0000
10:5714133–5714134	acceptor_loss	1.0000	3
10:5720258–5720259	acceptor_loss	1.0000	5
10:5720398–5720399	donor_loss	1.0000	6
10:5720669–5720670	donor_loss	1.0000	5
10:5720749	acceptor_gain	1.0000
10:5720862	acceptor_gain	1.0000
10:5720971–5720972	donor_loss	1.0000	5
10:5723675–5723676	acceptor_loss	1.0000	6

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Glioblastoma Multiforme (validation)	favorable	5.61e-06
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000491
Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA)	unfavorable	0.000903

Disease associations

OMIM: gene MIM:621243 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST010303_47	Nevus count or cutaneous melanoma	8e-11
GCST007505_20	Nevus count or cutaneous melanoma	2e-8
GCST006624_101	Systolic blood pressure	3e-8
GCST002056_5	Osteosarcoma	8e-6

EFO canonical traits (from GWAS)

2 canonical traits:

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 (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases 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	affects binding, decreases reaction	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	increases expression, affects cotreatment	1
Silicon Dioxide	increases expression	1
Thimerosal	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.