TAGLN2

Summary

TAGLN2 (transgelin 2, HGNC:11554) is a protein-coding gene on chromosome 1q23.2, encoding Transgelin-2 (P37802).

The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 8407 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 34 total
• Druggable target: yes
• MANE Select transcript: NM_003564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11554
Approved symbol	TAGLN2
Name	transgelin 2
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0120, HA1756
Ensembl gene	ENSG00000158710
Ensembl biotype	protein_coding
OMIM	604634
Entrez	8407

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 21 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000320307, ENST00000368096, ENST00000368097, ENST00000397334, ENST00000478033, ENST00000854582, ENST00000854583, ENST00000854584, ENST00000854585, ENST00000854586, ENST00000854587, ENST00000854588, ENST00000854589, ENST00000854590, ENST00000854591, ENST00000854592, ENST00000854593, ENST00000915454, ENST00000915455, ENST00000956569, ENST00000956570, ENST00000956571

RefSeq mRNA: 3 — MANE Select: NM_003564 NM_001277223, NM_001277224, NM_003564

CCDS: CCDS1189, CCDS60314

Canonical transcript exons

ENST00000368097 — 5 exons

Exon	Start	End
ENSE00000000171	159918111	159918941
ENSE00000789040	159919274	159919376
ENSE00001942932	159925450	159925507
ENSE00003645512	159920330	159920537
ENSE00003672715	159919661	159919835

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 532.5898 / max 5592.6390, expressed in 1827 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15444	477.4008	1827
15443	37.6861	1803
15445	4.7236	1636
15438	3.3481	886
15440	2.7621	415
15432	2.6676	1252
15442	2.0330	1051
15431	1.7762	969
15439	0.0795	33
201777	0.0647	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper lobe of left lung	UBERON:0008952	99.64	gold quality
monocyte	CL:0000576	99.59	gold quality
right lung	UBERON:0002167	99.59	gold quality
granulocyte	CL:0000094	99.56	gold quality
leukocyte	CL:0000738	99.53	gold quality
mononuclear cell	CL:0000842	99.53	gold quality
islet of Langerhans	UBERON:0000006	99.52	gold quality
ventricular zone	UBERON:0003053	99.45	gold quality
upper lobe of lung	UBERON:0008948	99.43	gold quality
skin of abdomen	UBERON:0001416	99.41	gold quality
mucosa of transverse colon	UBERON:0004991	99.41	gold quality
minor salivary gland	UBERON:0001830	99.35	gold quality
gall bladder	UBERON:0002110	99.33	gold quality
ascending aorta	UBERON:0001496	99.32	gold quality
skin of leg	UBERON:0001511	99.32	gold quality
thoracic aorta	UBERON:0001515	99.31	gold quality
body of stomach	UBERON:0001161	99.29	gold quality
descending thoracic aorta	UBERON:0002345	99.27	gold quality
metanephros cortex	UBERON:0010533	99.27	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.26	gold quality
omental fat pad	UBERON:0010414	99.26	gold quality
peritoneum	UBERON:0002358	99.24	gold quality
endocervix	UBERON:0000458	99.23	gold quality
left coronary artery	UBERON:0001626	99.23	gold quality
spleen	UBERON:0002106	99.23	gold quality
apex of heart	UBERON:0002098	99.21	gold quality
lower esophagus mucosa	UBERON:0035834	99.21	gold quality
right uterine tube	UBERON:0001302	99.20	gold quality
right coronary artery	UBERON:0001625	99.20	gold quality
left uterine tube	UBERON:0001303	99.16	gold quality

Single-cell (SCXA)

Detected in 36 experiment(s), a significant marker in 27.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	5011.53
E-MTAB-10432	yes	4972.17
E-HCAD-4	yes	2908.81
E-CURD-112	yes	1837.09
E-MTAB-7407	yes	1702.70
E-MTAB-9067	yes	1289.52
E-CURD-98	yes	1252.47
E-CURD-6	yes	1117.85
E-MTAB-9388	yes	1082.72
E-GEOD-93593	yes	450.87
E-MTAB-6701	yes	80.88
E-MTAB-10287	yes	79.75
E-HCAD-1	yes	41.10
E-GEOD-134144	yes	38.91
E-HCAD-6	yes	29.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting TAGLN2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-7159-5P	99.53	72.12	2472

Literature-anchored findings (GeneRIF, showing 35)

• in pulmonary adenocarcinoma, overexpression of TAGLN was strictly localized to the tumor-induced reactive myofibroblastic stromal tissue compartment, whereas overexpression of TAGLN2 was exclusively localized to the neoplastic glandular compartment (PMID:19848416)
• Data indicate that TAGLN2 may have an oncogenic function and may be regulated by miR-1, a tumor suppressive miRNA in HNSCC. (PMID:21378409)
• our data propose a novel, oncogene-tumor suppressor interplay, where oncogenic PFTK1 confers HCC cell motility through inactivating the actin-binding motile suppressing function of TAGLN2 via phosphorylation. (PMID:21577206)
• PTTG1 and TAGLN2 are highly expressed in human pancreatic cancer, and the positive expression of PTTG1 is associated with the gender of cancer patients, suggesting that it may represent a potential therapeutic target for the treatment of pancreatic cancer (PMID:23527717)
• Transgelin-2, a sequence homolog of transgelin, whose role in the tumor development might be contradictory to the role of transgelin. (PMID:24476357)
• TAGLN2 modulates hypoxia-induced apoptosis via caspase-8 apoptotic pathway. Taken together, our data demonstrated the roles of miR-133a in hypoxia-induced apoptotic and implicate its potential in cardiac dysfunctions therapy. (PMID:25421410)
• Proteomics result showed TAGLN2 as the most significant overexpression in individual bladder cancer tissues and urine specimens, and thus represents a potential biomarker for noninvasive screening for bladder cancer. (PMID:26081836)
• Salvianolic acid A can reverse the paclitaxel resistance and inhibit the migration and invasion abilities of human breast cancer cells by down-regulating the expression of transgelin 2. (PMID:26176734)
• It is a target gene of miR-1. (PMID:26414725)
• Transgelin-2 plays functional roles in the progression of cervical squamous cell carcinoma. Suppression of Transgelin-2 may be a new strategy for the treatment of cervical squamous cell carcinoma. (PMID:26891454)
• Our data demonstrated that TAGLN2 might be an HBx induced positive host factor involved in HBV transcription and replication and HBx related liver fibrosis and tumorigenesis (PMID:27402267)
• Our data support a novel mechanism in diabetes-associated PDAC by which transgelin-2 mediates proliferation of PDAC cells upon insulin stimulation. (PMID:28521289)
• we reviewed the basic characteristics and function of Transgelin-2 and its biological role in various types of diseases in order to provide the theoretical basis for further research and new perspectives on cancer development. (PMID:28639888)
• Results suggest that TAGLN2 might regulate activation and migration of B-cells, in particular, the entry of activated B-cells into the follicle. (PMID:28910360)
• Results show that Increased expression of TAGLN2 is associated with increasing tumor grade in glioma and poor patient survival. Knockdown experiments highlighted the function of TAGLN2 in promoting glioma cell invasion, the EMT phenotype, and tumor growth. (PMID:29110682)
• dual functional nature of TAGLN2-G-actin polymerization and Arp2/3 complex inhibition-may account for the mechanisms of filopodia development at the edge of Arp2/3-rich lamellipodia in various cell types (PMID:29615809)
• Authors found transgelin-2 expression was induced by KRAS mutation. In the case of KRAS mutation, ERK2 interacted with 29-31 amino acids of transgelin-2 and subsequently phosphorylated the S145 residue of transgelin-2. (PMID:30041673)
• Study provides important evidence that hypoxia-inducible TAGLN2 is involved in the selection of cancer cells with enhanced EMT properties to overcome the detrimental environment of cancer cells as gamma radiation. (PMID:30191639)
• TAGLN 2 overexpression in HeLa cells could inhibit cell viability, migration and invasion, and it was suggested that this may occur via upregulation of the expression levels of E cadherin and inhibitor of nuclear factor kappalightchainenhancer of activated B cells (NFkappaB) (IkappaB), and downregulation of C XC chemokine receptor type 4, matrix metalloproteinase (MMP)2, MMP9, p50 and transcription factor p65. (PMID:30942422)
• Transgelin-2 was highly overexpressed in breast cancer and relevant to progression. High transgelin-2 expression might predict poor outcome in patients with ER-negative tumors. (PMID:31144206)
• REVIEW: Biochemical and Clinical Implications in Cancer and Asthma (PMID:31256982)
• The present study proposed TAGLN2 to function as a tumor suppressor and that loss of TAGLN2 may promote the metastasis of breast cancer by activating the ROS/NFkappaB signaling pathway. (PMID:31485630)
• Transgelin-2 contributes to proliferation and progression of hepatocellular carcinoma via regulating Annexin A2. (PMID:31941608)
• Transgelin-2 and phosphoregulation of the LIC2 subunit of dynein govern mitotic spindle orientation. (PMID:32467330)
• Quercetin Antagonizes Esophagus Cancer by Modulating miR-1-3p/TAGLN2 Pathway-Dependent Growth and Metastasis. (PMID:34498538)
• Transgelin-2 interacts with CD44 to regulate Notch1 signaling pathway and participates in colorectal cancer proliferation and migration. (PMID:34553339)
• Transgelin-2 in Multiple Myeloma: A New Marker of Renal Impairment? (PMID:35011306)
• Mechanisms of Transgelin-2 in Tumorigenesis. (PMID:35219353)
• Variations in Blood Platelet Proteome and Transcriptome Revealed Altered Expression of Transgelin-2 in Acute Coronary Syndrome Patients. (PMID:35683019)
• TAGLN2 promotes papillary thyroid carcinoma invasion via the Rap1/PI3K/AKT axis. (PMID:36222755)
• TAGLN2 Promotes the Proliferation, Migration, Invasion, and EMT of Clear Cell Renal Cell Carcinoma Through the PI3K/Akt Signaling Pathway. (PMID:36547768)
• Single-cell RNA sequencing reveals the lineage of malignant epithelial cells and upregulation of TAGLN2 promotes peritoneal metastasis in gastric cancer. (PMID:37247132)
• TAGLN2 targeted control of ARPC5-mediated activation of the MEK/ERK signaling pathway influences the proliferation, invasion, and metastasis of pancreatic cancer cells. (PMID:38744388)
• Unveiling the role of TAGLN2 in glioblastoma: From proneural-mesenchymal transition to Temozolomide resistance. (PMID:38992489)
• TAGLN2 induces resistance signature ISGs by activating AKT-YBX1 signal with dual pathways and mediates the IFN-related DNA damage resistance in gastric cancer. (PMID:39168971)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tagln2	ENSMUSG00000026547
rattus_norvegicus	Tagln2	ENSRNOG00000008301
drosophila_melanogaster	Mp20	FBGN0002789
drosophila_melanogaster	Chd64	FBGN0035499
caenorhabditis_elegans	cpn-1	WBGENE00000777
caenorhabditis_elegans		WBGENE00000778
caenorhabditis_elegans	cpn-3	WBGENE00000779
caenorhabditis_elegans	cpn-4	WBGENE00000780

Paralogs (5): CNN2 (ENSG00000064666), CNN3 (ENSG00000117519), CNN1 (ENSG00000130176), TAGLN3 (ENSG00000144834), TAGLN (ENSG00000149591)

Protein

Protein identifiers

Transgelin-2 — P37802 (reviewed: P37802)

Alternative names: Epididymis tissue protein Li 7e, SM22-alpha homolog

All UniProt accessions (3): A0A384MTL2, P37802, X6RJP6

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in epididymis (at protein level).

Similarity. Belongs to the calponin family.

Isoforms (2)

UniProt ID	Names	Canonical?
P37802-1	1	yes
P37802-2	2

RefSeq proteins (3): NP_001264152, NP_001264153, NP_003555* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000557	Calponin_repeat	Repeat
IPR001715	CH_dom	Domain
IPR003096	SM22_calponin	Family
IPR036872	CH_dom_sf	Homologous_superfamily
IPR050606	Calponin-like	Family

Pfam: PF00307, PF00402

UniProt features (26 total): modified residue 8, helix 6, strand 3, turn 2, initiator methionine 1, chain 1, cross-link 1, splice variant 1, sequence variant 1, domain 1, repeat 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1WYM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P37802-F1	88.52	0.66

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 (9): 182, 196, 171, 2, 11, 17, 20, 163, 180

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-109582	Hemostasis
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 332 (showing top): GGGACCA_MIR133A_MIR133B, AP1_01, GOBP_EPITHELIUM_DEVELOPMENT, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, HSIAO_HOUSEKEEPING_GENES, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_UP, TGACCTY_ERR1_Q2, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, RICKMAN_METASTASIS_DN, ONKEN_UVEAL_MELANOMA_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_ACTIN_FILAMENT_ORGANIZATION

GO Biological Process (2): actin filament organization (GO:0007015), epithelial cell differentiation (GO:0030855)

GO Molecular Function (3): cadherin binding (GO:0045296), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), vesicle (GO:0031982), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
cell differentiation	1
epithelium development	1
cell adhesion molecule binding	1
actin binding	1
protein-containing complex binding	1
binding	1
cytoplasm	1
cytoskeleton	1
membrane-bounded organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

3868 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAGLN2	FCGR2B	P31994	648
TAGLN2	CALD1	Q05682	640
TAGLN2	CFL1	P23528	630
TAGLN2	PFN1	P07737	625
TAGLN2	FCGR2A	P12318	595
TAGLN2	GSN	P06396	580
TAGLN2	MYH11	P35749	574
TAGLN2	SCIN	Q9Y6U3	570
TAGLN2	MYL9	P24844	557
TAGLN2	TPM1	P09493	552
TAGLN2	YWHAZ	P29213	539
TAGLN2	SMTN	P53814	518
TAGLN2	ACTA2	P03996	517
TAGLN2	LUM	P51884	501
TAGLN2	FLNB	O75369	496

IntAct

127 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TAGLN2	TAGLN3	psi-mi:“MI:0915”(physical association)	0.640
TAGLN2	DNM2	psi-mi:“MI:0915”(physical association)	0.560
TAGLN2	SMN1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	TAGLN2	psi-mi:“MI:0915”(physical association)	0.560
TAGLN2	HTT	psi-mi:“MI:0915”(physical association)	0.560
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480

BioGRID (276): TAGLN2 (Affinity Capture-RNA), TAGLN2 (Affinity Capture-RNA), TAGLN2 (Affinity Capture-MS), TAGLN2 (Affinity Capture-MS), TAGLN2 (Affinity Capture-MS), ACAA2 (Co-fractionation), ALDOA (Co-fractionation), ALDOC (Co-fractionation), ARL8A (Co-fractionation), ATOX1 (Co-fractionation), CARKD (Co-fractionation), CLIC3 (Co-fractionation), CLIC4 (Co-fractionation), CRIP1 (Co-fractionation), DUT (Co-fractionation)

ESM2 similar proteins: A5E121, A6H742, A7E3Q8, O13728, O14134, O14185, O59945, O88818, P05095, P05165, P13796, P13797, P19179, P19966, P31232, P32599, P37802, P37803, P37804, P37805, P53585, P54680, Q01995, Q08873, Q14651, Q3V0K9, Q3ZBY2, Q4R5J4, Q550R2, Q5E9F5, Q5R6R2, Q5XFX0, Q61233, Q63598, Q6DG81, Q6P698, Q7XJ60, Q8R491, Q91ZA3, Q99K51

Diamond homologs: B9EUM5, O14185, O14188, P14318, P19966, P26932, P31232, P37397, P37802, P37803, P37804, P37805, P46940, P51911, Q01995, Q08091, Q08092, Q08093, Q08094, Q08290, Q08873, Q12280, Q15052, Q15417, Q24799, Q2HJ38, Q32L92, Q3SYU6, Q3ZBY2, Q4R5J4, Q54TK8, Q55E26, Q55GV9, Q5AH02, Q5E9F5, Q5R6R2, Q5RFN6, Q5XFX0, Q5XXR3, Q5ZLR6

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
MAPK1	“up-regulates quantity by stabilization”	TAGLN2	phosphorylation
CDK14	“down-regulates activity”	TAGLN2	phosphorylation
TAGLN2	“down-regulates activity”	ACTB	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Oncogenic MAPK signaling	5	14.4×	5e-03
Signaling by NTRK1 (TRKA)	5	11.4×	9e-03
Signaling by NTRKs	5	10.5×	1e-02
Transcriptional regulation of granulopoiesis	6	8.8×	8e-03
Diseases of signal transduction by growth factor receptors and second messengers	9	6.0×	5e-03
Signaling by Receptor Tyrosine Kinases	9	5.4×	7e-03
Infectious disease	14	4.0×	3e-03
Viral Infection Pathways	11	3.9×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

641 predictions. Top by Δscore:

Variant	Effect	Δscore
1:159918940:TCC:T	acceptor_loss	1.0000
1:159918942:C:CA	acceptor_loss	1.0000
1:159918942:C:CC	acceptor_gain	1.0000
1:159918943:T:C	acceptor_loss	1.0000
1:159918946:G:GC	acceptor_gain	1.0000
1:159919268:ACTT:A	donor_loss	1.0000
1:159919269:CTT:C	donor_loss	1.0000
1:159919270:TTAC:T	donor_loss	1.0000
1:159919272:A:AC	donor_gain	1.0000
1:159919273:C:CA	donor_gain	1.0000
1:159919273:CT:C	donor_gain	1.0000
1:159919273:CTT:C	donor_gain	1.0000
1:159919273:CTTA:C	donor_gain	1.0000
1:159919273:CTTAG:C	donor_gain	1.0000
1:159919372:CTTTC:C	acceptor_gain	1.0000
1:159919373:TTTC:T	acceptor_gain	1.0000
1:159919374:TTC:T	acceptor_gain	1.0000
1:159919375:TC:T	acceptor_gain	1.0000
1:159919376:CC:C	acceptor_gain	1.0000
1:159919377:C:CA	acceptor_loss	1.0000
1:159919377:C:CC	acceptor_gain	1.0000
1:159919663:T:TA	donor_gain	1.0000
1:159919664:C:A	donor_gain	1.0000
1:159919673:C:CT	donor_gain	1.0000
1:159919717:G:C	donor_gain	1.0000
1:159920324:TCTCA:T	donor_loss	1.0000
1:159920325:CTCA:C	donor_loss	1.0000
1:159920326:TCAC:T	donor_loss	1.0000
1:159920327:CAC:C	donor_loss	1.0000
1:159920328:A:AC	donor_gain	1.0000

AlphaMissense

1311 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:159919755:G:C	F87L	1.000
1:159919755:G:T	F87L	1.000
1:159919757:A:G	F87L	1.000
1:159919683:G:C	F111L	0.999
1:159919683:G:T	F111L	0.999
1:159919685:A:G	F111L	0.999
1:159920334:C:A	G59V	0.999
1:159920413:A:G	W33R	0.999
1:159920413:A:T	W33R	0.999
1:159918865:C:G	G179R	0.998
1:159918914:G:C	F162L	0.998
1:159918914:G:T	F162L	0.998
1:159918916:A:G	F162L	0.998
1:159919669:A:G	L116P	0.998
1:159919669:A:T	L116H	0.998
1:159919726:A:G	L97P	0.998
1:159919728:G:C	F96L	0.998
1:159919728:G:T	F96L	0.998
1:159919730:A:G	F96L	0.998
1:159919756:A:G	F87S	0.998
1:159918814:G:T	R196S	0.997
1:159918822:C:T	G193E	0.997
1:159918865:C:A	G179C	0.997
1:159919334:C:T	G133D	0.997
1:159919346:A:G	L129P	0.997
1:159919684:A:G	F111S	0.997
1:159919747:A:G	M90T	0.997
1:159919756:A:C	F87C	0.997
1:159919822:A:G	L65P	0.997
1:159920334:C:T	G59D	0.997

dbSNP variants (sampled 300 via entrez): RS1000474536 (1:159921560 A>C), RS1000695898 (1:159917796 T>C), RS1000891252 (1:159924596 G>GC), RS1001755834 (1:159920958 C>T), RS1001856821 (1:159926129 G>A), RS1001925907 (1:159926385 G>T), RS1002558919 (1:159923511 G>A), RS1003696091 (1:159922360 T>A,C), RS1004166313 (1:159919009 G>A,C), RS1004218482 (1:159918536 T>G), RS1004740088 (1:159924060 T>A,C), RS1004873983 (1:159921979 G>A), RS1004949800 (1:159922204 C>A,T), RS1005111047 (1:159923717 G>A,C,T), RS1005784834 (1:159926845 G>A)

Disease associations

OMIM: gene MIM:604634 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002729_6	Crohn’s disease-related phenotypes	1.000000e-06
GCST004599_253	Mean platelet volume	6.000000e-17
GCST004616_115	Platelet distribution width	2.000000e-11
GCST008103_100	Bipolar disorder	3.000000e-06
GCST010697_46	Cortical surface area (min-P)	1.000000e-14
GCST010698_86	Subcortical volume (min-P)	6.000000e-19
GCST010699_11	Brain morphology (min-P)	2.000000e-10
GCST010700_45	Cortical thickness (MOSTest)	5.000000e-08
GCST010701_14	Cortical surface area (MOSTest)	3.000000e-08
GCST010702_133	Subcortical volume (MOSTest)	9.000000e-15
GCST010703_148	Brain morphology (MOSTest)	2.000000e-09
GCST90002395_537	Mean platelet volume	6.000000e-42
GCST90002401_364	Platelet distribution width	2.000000e-24

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006820	complicated disease course
EFO:0007984	platelet component distribution width
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066364 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.99	Kd	102.2	nM	CHEMBL5653589
6.99	ED50	102.2	nM	CHEMBL5653589
5.50	Kd	3153	nM	CHEMBL3752910
5.50	ED50	3153	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149538: Binding affinity to human TAGLN2 incubated for 45 mins by Kinobead based pull down assay	kd	0.1022	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149538: Binding affinity to human TAGLN2 incubated for 45 mins by Kinobead based pull down assay	kd	3.1533	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, increases expression, affects expression, decreases expression	8
trichostatin A	affects cotreatment, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Atrazine	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
Doxorubicin	affects expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
arsenite	affects binding, increases reaction	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	decreases expression	1
ochratoxin A	affects expression	1
cupric oxide	increases expression	1
artenimol	affects binding	1
diallyl trisulfide	increases expression	1
beta-methylcholine	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
tanespimycin	affects cotreatment, increases expression	1
entinostat	increases expression	1
7,3’-dihydroxy-4’-methoxyisoflavone	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652580	Binding	Binding affinity to human TAGLN2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3IZ	Abcam HEK293T TAGLN2 KO	Transformed cell line	Female
CVCL_TR51	HAP1 TAGLN2 (-) 1	Cancer cell line	Male
CVCL_XU06	HAP1 TAGLN2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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