TAGLN

Summary

TAGLN (transgelin, HGNC:11553) is a protein-coding gene on chromosome 11q23.3, encoding Transgelin (Q01995). Actin cross-linking/gelling protein.

This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization.

Source: NCBI Gene 6876 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_003186

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11553
Approved symbol	TAGLN
Name	transgelin
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128, TGLN
Ensembl gene	ENSG00000149591
Ensembl biotype	protein_coding
OMIM	600818
Entrez	6876

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 49 protein_coding, 1 retained_intron

ENST00000278968, ENST00000392951, ENST00000525531, ENST00000529622, ENST00000529792, ENST00000530649, ENST00000532870, ENST00000533863, ENST00000902402, ENST00000902403, ENST00000902404, ENST00000902405, ENST00000902406, ENST00000902407, ENST00000902408, ENST00000902409, ENST00000902410, ENST00000902411, ENST00000902412, ENST00000931919, ENST00000931920, ENST00000931921, ENST00000931922, ENST00000931923, ENST00000943133, ENST00000943134, ENST00000943135, ENST00000943136, ENST00000943137, ENST00000943138, ENST00000943139, ENST00000943140, ENST00000943141, ENST00000943142, ENST00000943143, ENST00000943144, ENST00000943145, ENST00000943146, ENST00000943147, ENST00000943148, ENST00000943149, ENST00000943150, ENST00000943151, ENST00000943152, ENST00000943153, ENST00000943154, ENST00000943155, ENST00000943156, ENST00000943157, ENST00000943158

RefSeq mRNA: 2 — MANE Select: NM_003186 NM_001001522, NM_003186

CCDS: CCDS8381

Canonical transcript exons

ENST00000392951 — 5 exons

Exon	Start	End
ENSE00000991541	117203002	117203193
ENSE00000991542	117203307	117203484
ENSE00000991543	117203782	117203884
ENSE00002184793	117204215	117207464
ENSE00002190369	117199370	117199432

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 100.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 569.4742 / max 11227.6715, expressed in 1262 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116882	563.4527	1257
116906	2.2039	563
116888	1.3392	430
116885	0.9065	328
116883	0.3097	185
116886	0.3079	166
116905	0.2653	130
116884	0.2182	124
206456	0.1582	106
116907	0.1568	83

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	100.00	gold quality
aorta	UBERON:0000947	99.99	gold quality
ascending aorta	UBERON:0001496	99.99	gold quality
thoracic aorta	UBERON:0001515	99.99	gold quality
right coronary artery	UBERON:0001625	99.99	gold quality
artery	UBERON:0001637	99.99	gold quality
popliteal artery	UBERON:0002250	99.99	gold quality
blood vessel layer	UBERON:0004797	99.99	gold quality
tibial artery	UBERON:0007610	99.99	gold quality
coronary artery	UBERON:0001621	99.98	gold quality
left coronary artery	UBERON:0001626	99.98	gold quality
vein	UBERON:0001638	99.98	gold quality
descending thoracic aorta	UBERON:0002345	99.98	gold quality
cauda epididymis	UBERON:0004360	99.97	gold quality
urethra	UBERON:0000057	99.96	gold quality
myometrium	UBERON:0001296	99.96	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.96	gold quality
vena cava	UBERON:0004087	99.95	gold quality
body of uterus	UBERON:0009853	99.95	gold quality
lower esophagus	UBERON:0013473	99.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.95	gold quality
mucosa of stomach	UBERON:0001199	99.93	gold quality
left uterine tube	UBERON:0001303	99.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.93	gold quality
nipple	UBERON:0002030	99.91	gold quality
smooth muscle tissue	UBERON:0001135	99.90	gold quality
pericardium	UBERON:0002407	99.86	gold quality
superficial temporal artery	UBERON:0001614	99.85	gold quality
endocervix	UBERON:0000458	99.84	gold quality
fundus of stomach	UBERON:0001160	99.84	gold quality

Single-cell (SCXA)

Detected in 44 experiment(s), a significant marker in 40.

Experiment	Marker?	Max mean expression
E-CURD-126	yes	20100.83
E-MTAB-10885	yes	19855.61
E-HCAD-1	yes	18108.44
E-MTAB-8410	yes	17104.57
E-MTAB-10287	yes	15989.02
E-MTAB-9906	yes	13910.44
E-MTAB-9841	yes	13891.37
E-MTAB-8381	yes	12974.28
E-GEOD-135922	yes	12943.55
E-HCAD-36	yes	12859.19
E-MTAB-8322	yes	12131.01
E-ANND-2	yes	11352.76
E-CURD-46	yes	10242.20
E-HCAD-15	yes	9496.03
E-HCAD-11	yes	9152.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, CTNNB1, EGR2, ELK1, EPAS1, FOXC1, FOXQ1, GATA6, HES1, HHEX, HMGXB4, HOXB8, KLF13, KLF4, KLF5, MRTFA, MSX1, MSX2, MYOCD, NFE2L3, NOTCH1, PDGFB, RBPJ, SIRT1, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD7, SP1, SRF, TCF21, TCF3, TCF7, TCF7L2, TGFB1, TGFB2, YY1

miRNA regulators (miRDB)

30 targeting TAGLN, 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-6748-5P	100.00	65.81	1057
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-4675	97.69	64.82	774
HSA-MIR-4741	97.69	64.14	883
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-1587	96.95	64.03	932
HSA-MIR-4632-3P	96.26	58.52	123
HSA-MIR-6805-5P	95.79	64.86	670

Literature-anchored findings (GeneRIF, showing 40)

• loss of transgelin gene expression may be an important early event in tumor progression and a diagnostic marker for breast and colon cancer development. (PMID:11773051)
• Transgelin functions as a suppressor to inhibit prostate cancer cell growth (PMID:17082327)
• crystallization and X-ray diffraction of transgelin. (PMID:17305610)
• SM22 expression in SMCs was dramatically higher than in GC cells, which indicates that SM22 is unlikely to be a proper biomarker for GC. (PMID:17629319)
• tagln is a novel target of TGF-beta/Smad3-dependent gene expression in alveolar epithelial type II cells (PMID:18245174)
• 2.3 A resolution crystal structure of full length human transgelin, whose main structural feature is confirmed to be a CH domain. (PMID:18291675)
• acts as a tumour suppressor; expression is lost in prostate, breast and colon cancers (PMID:18378184)
• Identificaton of transgelin a novel biomarker for gastric adenocarcinoma. (PMID:18446369)
• Selective overexpression of airway smooth muscle genes in asthmatic airways leads to increased Vmax, thus contributing to the airway hyperresponsiveness observed in asthma. (PMID:19011151)
• Transgelin was expressed in pulmonary artery smooth myocytes under hypoxia compared with normoxia via and HIF-1alpha-independent pathway. Reducting transgelin expression by RNA interference impaired migration especially under hypoxia. (PMID:19188659)
• Loss of transgelin involves gene promoter hypermethylation and is closely associated with poor overall survival in colorectal cancer patients. (PMID:19329940)
• studies in colorectal cancer cell lines demonstrated roles for transgelin in promoting invasion, survival, and resistance to anoikis (PMID:19724680)
• Results demonstrate that SM22alpha can induce blockage of cell proliferation and cellular resistance to overcome the detrimental effects of damaging agents. (PMID:19796641)
• 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)
• Expression of the actin-associated protein transgelin (SM22) is decreased in prostate cancer (PMID:20012321)
• results are indicative of p53-mediated mitochondria-associated apoptotic effects of transgelin on LNCaP cells in addition to its known suppressive effects on the AR pathway (PMID:20098441)
• Loss of SM22 is a molecular signature of colon cancer and is closely associated with progression, differentiation, and metastasis of colon cancer. (PMID:20336793)
• these findings provide the first demonstration that SM22alpha modulates cellular senescence caused by damaging agents via regulation of the p16(INK4a)/pRB pathway in HepG2 cells and that these effects of SM22alpha are partially mediated by MT-1G. (PMID:20705054)
• Results indicate that the metastatic potential of CSCs arises from highly expressed Transgelin. (PMID:20707403)
• The expression of Transgelin in the uterine body smooth muscle tissue of pregnant women during labor was higher than in non-labor. (PMID:21051832)
• Down-regulation of SM22alpha in breast cancer is correlated with lymph node metastasis. (PMID:21092460)
• Strong transgelin expression is observed in renal tissue of patients with glomerulonephritis; its distribution is comparable to that of alpha-smooth muscle actin (alpha-SMA), a marker of myofibroblast activation in the kidney. (PMID:21677441)
• We found an increased expression of the TAGLN gene in endometriotic lesions compared with the eutopic endometrium of the same patients by real-time polymerase chain reaction. (PMID:21763649)
• SM22alpha overexpression enhances tumor cell growth and activates the IGF1R/PI3K/Akt pathway via direct interaction with IGF1Rbeta. (PMID:22245152)
• Depletion of SM22 could contribute to tumourigenic properties of cells. Reduction in SM22 would tend to promote cell survival when cells are under hypoxic stress, and may also contribute to increases in actin dynamics that favour metastatic potential. (PMID:22257561)
• COX7A2, TAGLN2 and S100-A10 as novel prognostic markers in Barrett’s adenocarcinoma. (PMID:22365974)
• the expressions of TAGLN were significantly reduced in colorectal carcinoma tissues and cells, and overexpression of TAGLN could decrease the proliferation and invasion and increase the apoptosis of LoVo cells (PMID:23138394)
• In leiomyosarcomas versus all other sarcomas transgelin emerged as the best diagnostic marker (PMID:23174934)
• Our results indicate that transgelin plays a promoting role in tumor progression, and appears to be a novel prognostic marker for advanced pancreatic cancer. (PMID:23331552)
• Expression of SM22 is inhibited in human CRC, and SM22 may act as a positive regulator of the processes of autophagy. (PMID:23538046)
• HIF-2alpha upregulates transgelin indirectly and accumulated TGF-beta1 is a mediator in the upregulation of transgelin by HIF-2alpha under hypoxia. (PMID:24464808)
• The expression and biological role of transgelin seem to differ among various types of tumor cells and stroma, and possibly change during tumor progression. (PMID:24476357)
• Downregulated proteins in gallbladder cancer included serine protease HTRA1 and transgelin, which have been reported to be downregulated in several other cancers. (PMID:24657443)
• They also antagonized the TGF-beta1 induced up-regulation of CTGF and transgelin. (PMID:24828686)
• our data suggest that TAGLN may be a viable therapeutic target and a potential biomarker for predicting the prognosis of patients with lung adenocarcinoma. (PMID:24938684)
• TAGLN was highly expressed in NF1-deficient malignant peripheral nerve sheath tumors compared to NF1-deficient plexiform neurofibromas. Upregulation was caused by increased transcriptional expression. The TAGLN gene was hypomethylated in the MPNST cells. (PMID:25109740)
• Results indicate that miR-144 may regulate osteosarcoma cell proliferation and invasion by downregulating its target gene, transgelin protein (TAGLN), suggesting that miR-144 may be a potential therapeutic target for the treatment of osteosarcoma. (PMID:25318625)
• Transgelin may be an excellent diagnostic marker of Triple negative tumors and could be useful in stratification of patients (PMID:25841305)
• EZH2 regulates the chromatin structure at the TAGLN promoter through tri-methylation of H3K27, acting as an epigenetic integrator of IL-1beta and TGFbeta2 signaling. (PMID:25917318)
• SM22alpha is a phosphorylation-regulated suppressor of IKK-IkappaBalpha-NF-kappaB signaling cascades. (PMID:25937534)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	tagln2	ENSDARG00000033466
danio_rerio	tagln	ENSDARG00000045408
mus_musculus	Tagln	ENSMUSG00000032085
rattus_norvegicus	Tagln	ENSRNOG00000017628
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), TAGLN2 (ENSG00000158710)

Protein

Protein identifiers

Transgelin — Q01995 (reviewed: Q01995)

Alternative names: 22 kDa actin-binding protein, Protein WS3-10, Smooth muscle protein 22-alpha

All UniProt accessions (4): Q01995, E9PJ32, H0YCU9, Q5U0D2

UniProt curated annotations — full annotation on UniProt →

Function. Actin cross-linking/gelling protein. Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence.

Subcellular location. Cytoplasm.

Induction. Overexpressed in senescent human fibroblasts.

Similarity. Belongs to the calponin family.

RefSeq proteins (2): NP_001001522, NP_003177* (*=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 (15 total): sequence conflict 5, modified residue 5, initiator methionine 1, chain 1, domain 1, repeat 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01995-F1	88.63	0.67

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 (5): 2, 166, 172, 181, 183

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 237 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_EPITHELIUM_DEVELOPMENT, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, HARRIS_HYPOXIA, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, KAAB_FAILED_HEART_ATRIUM_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, BECKER_TAMOXIFEN_RESISTANCE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, SRF_Q5_01, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CHANG_IMMORTALIZED_BY_HPV31_DN, BROWNE_HCMV_INFECTION_48HR_DN, SMITH_TERT_TARGETS_DN

GO Biological Process (2): muscle organ development (GO:0007517), epithelial cell differentiation (GO:0030855)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
animal organ development	1
muscle structure development	1
cell differentiation	1
epithelium development	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

4876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAGLN	ACTA2	P03996	911
TAGLN	MYH11	P35749	878
TAGLN	MYOCD	Q8IZQ8	876
TAGLN	SRF	P11831	803
TAGLN	MYL9	P24844	780
TAGLN	SMTN	P53814	763
TAGLN	CALD1	Q05682	727
TAGLN	COL1A1	P02452	716
TAGLN	PDGFRB	P09619	715
TAGLN	CDH5	P33151	699
TAGLN	MRTFA	Q969V6	677
TAGLN	TPM1	P09493	649
TAGLN	VIM	P08670	646
TAGLN	RGCC	Q9H4X1	644
TAGLN	LIM2	P55344	640

IntAct

46 interactions, top by confidence:

A	B	Type	Score
AKR7A3	AKR7A2	psi-mi:“MI:0914”(association)	0.890
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
TAGLN	GORASP2	psi-mi:“MI:0915”(physical association)	0.600
GORASP2	TAGLN	psi-mi:“MI:0915”(physical association)	0.600
TINF2	TAGLN	psi-mi:“MI:0915”(physical association)	0.510
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
TAGLN	PARP1	psi-mi:“MI:0915”(physical association)	0.400
IGF1R	TAGLN	psi-mi:“MI:0915”(physical association)	0.400
TAGLN	ACD	psi-mi:“MI:0915”(physical association)	0.370
TAGLN	POT1	psi-mi:“MI:0915”(physical association)	0.370
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
ARL16	YKT6	psi-mi:“MI:0914”(association)	0.350
CDKN1B	YKT6	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350
CDH23	SGTA	psi-mi:“MI:0914”(association)	0.350
DND1	UBA6	psi-mi:“MI:0914”(association)	0.350
LGALS9	CYB5A	psi-mi:“MI:0914”(association)	0.350
NPPB	ACOT7	psi-mi:“MI:0914”(association)	0.350
SSBP2	TPD52L2	psi-mi:“MI:0914”(association)	0.350
TTC9C		psi-mi:“MI:0914”(association)	0.350

BioGRID (87): DUSP6 (Affinity Capture-Western), TAGLN (Affinity Capture-Western), ACAA2 (Co-fractionation), ALDOA (Co-fractionation), ALDOC (Co-fractionation), EEF2 (Co-fractionation), ENO1 (Co-fractionation), ENO2 (Co-fractionation), ENO3 (Co-fractionation), FABP3 (Co-fractionation), FABP5 (Co-fractionation), FABP7 (Co-fractionation), FKBP1A (Co-fractionation), FKBP1B (Co-fractionation), GPX4 (Co-fractionation)

ESM2 similar proteins: A6H742, A7E3Q8, O13728, O14134, O14185, O59945, O88818, P05095, P13796, P13797, P19179, P19966, P32599, P37803, P37804, P37805, P41810, P53585, P53978, P54680, P78820, P87078, Q00955, Q01995, Q08873, Q14651, Q3V0K9, Q3ZBY2, Q4R5J4, Q54BC6, Q54HG2, Q550R2, Q55BP5, Q5R6R2, Q61233, Q63598, Q6DG81, Q6FIR8, Q6FM46, Q6P698

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
SRF	“up-regulates quantity by expression”	TAGLN	“transcriptional regulation”
TGFB1	“up-regulates quantity by expression”	TAGLN	“transcriptional regulation”
HOXB8	“down-regulates quantity by repression”	TAGLN	“transcriptional regulation”
PRKCD	“down-regulates activity”	TAGLN	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Signaling by Interleukins	5	9.2×	7e-03
Cytokine Signaling in Immune system	6	7.0×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
DNA damage response	7	9.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	0
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1273 predictions. Top by Δscore:

Variant	Effect	Δscore
11:117199425:G:GT	donor_gain	1.0000
11:117199428:GCCTT:G	donor_gain	1.0000
11:117199433:G:GG	donor_gain	1.0000
11:117202985:ACCCT:A	acceptor_gain	1.0000
11:117202989:T:TA	acceptor_gain	1.0000
11:117203000:A:AG	acceptor_gain	1.0000
11:117203001:G:GG	acceptor_gain	1.0000
11:117203037:T:TA	acceptor_gain	1.0000
11:117203041:AT:A	acceptor_gain	1.0000
11:117203042:T:G	acceptor_gain	1.0000
11:117203189:GCGTG:G	donor_gain	1.0000
11:117203191:GTG:G	donor_gain	1.0000
11:117203195:T:A	donor_loss	1.0000
11:117203196:GAGTG:G	donor_loss	1.0000
11:117203297:T:G	acceptor_gain	1.0000
11:117203297:T:TA	acceptor_gain	1.0000
11:117203301:T:A	acceptor_gain	1.0000
11:117203302:GGTA:G	acceptor_loss	1.0000
11:117203304:TA:T	acceptor_loss	1.0000
11:117203305:A:AG	acceptor_gain	1.0000
11:117203305:A:C	acceptor_loss	1.0000
11:117203306:G:GA	acceptor_gain	1.0000
11:117203306:GA:G	acceptor_gain	1.0000
11:117203306:GATT:G	acceptor_gain	1.0000
11:117203306:GATTC:G	acceptor_gain	1.0000
11:117203424:GCGGC:G	donor_gain	1.0000
11:117203443:TCATC:T	donor_gain	1.0000
11:117203482:AAGG:A	donor_loss	1.0000
11:117203483:AGGT:A	donor_loss	1.0000
11:117203485:G:GA	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000988515 (11:117204965 A>G), RS1000992923 (11:117200462 C>T), RS1002998544 (11:117198526 A>G), RS1003024284 (11:117201730 C>G,T), RS1003877206 (11:117201818 C>T), RS1004317251 (11:117200942 T>C), RS1004373499 (11:117197314 G>C), RS1004454694 (11:117201192 G>A), RS1004661161 (11:117199950 C>T), RS1004979144 (11:117205528 G>A), RS1005236527 (11:117197670 C>T), RS1005291089 (11:117205301 G>C), RS1005459831 (11:117202303 G>A), RS1005565131 (11:117203947 C>A,G,T), RS1005780043 (11:117202183 G>A)

Disease associations

OMIM: gene MIM:600818 | 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
GCST005112_3	Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy	6.000000e-08
GCST007929_26	Medication use (calcium channel blockers)	1.000000e-12
GCST010002_199	Refractive error	3.000000e-34
GCST010243_141	Apolipoprotein B levels	8.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009930	Calcium channel blocker use measurement
EFO:0004615	apolipoprotein B measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	7
sodium arsenite	affects cotreatment, increases expression, decreases expression, increases abundance	6
methylmercuric chloride	decreases expression, increases expression, affects cotreatment	5
bisphenol A	decreases expression, increases expression	5
Cyclosporine	affects expression, decreases expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Amitriptyline	decreases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
Doxorubicin	affects expression, decreases expression, increases expression	3
Estradiol	affects cotreatment, decreases expression, increases expression, affects expression	3
Fluoxetine	decreases expression	3
Tamoxifen	decreases expression	3
Tretinoin	affects cotreatment, increases expression, affects expression	3
entinostat	decreases expression, affects cotreatment	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
Arsenic Trioxide	increases reaction, affects binding, decreases reaction, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression	2
Ethanol	increases expression, decreases expression, affects cotreatment, increases abundance	2
Amiodarone	decreases expression	2
Arsenic	increases expression, affects expression, affects cotreatment, increases abundance	2
trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	decreases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Clozapine	decreases expression	2
Fluorouracil	decreases expression, affects response to substance	2
Folic Acid	affects expression, decreases expression	2
Hydrogen Peroxide	increases expression	2
Imipramine	decreases expression	2
Perhexiline	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2

Clinical trials (associated diseases)

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