HAS1

Summary

HAS1 (hyaluronan synthase 1, HGNC:4818) is a protein-coding gene on chromosome 19q13.41, encoding Hyaluronan synthase 1 (Q92839). Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer.

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 3036 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_001297436

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4818
Approved symbol	HAS1
Name	hyaluronan synthase 1
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000105509
Ensembl biotype	protein_coding
OMIM	601463
Entrez	3036

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000222115, ENST00000540069, ENST00000594621, ENST00000601667, ENST00000601714, ENST00000964524

RefSeq mRNA: 2 — MANE Select: NM_001297436 NM_001297436, NM_001523

CCDS: CCDS12838, CCDS74436

Canonical transcript exons

ENST00000540069 — 5 exons

Exon	Start	End
ENSE00000723854	51716256	51716388
ENSE00000723871	51716968	51717193
ENSE00002279405	51723925	51723991
ENSE00002502511	51719206	51719895
ENSE00003900488	51713112	51714102

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 98.65.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9398 / max 228.3991, expressed in 222 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182471	1.9398	222

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	98.65	gold quality
parietal pleura	UBERON:0002400	92.56	gold quality
vena cava	UBERON:0004087	90.38	gold quality
germinal epithelium of ovary	UBERON:0001304	88.50	silver quality
pleura	UBERON:0000977	84.91	gold quality
omental fat pad	UBERON:0010414	84.66	gold quality
peritoneum	UBERON:0002358	84.54	gold quality
right ovary	UBERON:0002118	84.47	gold quality
synovial joint	UBERON:0002217	82.90	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.26	gold quality
left ovary	UBERON:0002119	80.50	gold quality
layer of synovial tissue	UBERON:0007616	80.24	gold quality
pericardium	UBERON:0002407	80.01	silver quality
ovary	UBERON:0000992	76.35	gold quality
middle temporal gyrus	UBERON:0002771	75.52	silver quality
left uterine tube	UBERON:0001303	75.41	gold quality
gall bladder	UBERON:0002110	75.13	gold quality
cartilage tissue	UBERON:0002418	74.73	silver quality
visceral pleura	UBERON:0002401	72.82	silver quality
Brodmann (1909) area 23	UBERON:0013554	72.70	silver quality
mucosa of stomach	UBERON:0001199	70.65	gold quality
skin of abdomen	UBERON:0001416	70.56	gold quality
right atrium auricular region	UBERON:0006631	69.65	gold quality
cardiac atrium	UBERON:0002081	68.81	gold quality
right frontal lobe	UBERON:0002810	67.67	gold quality
primary visual cortex	UBERON:0002436	67.57	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.35	gold quality
tendon of biceps brachii	UBERON:0008188	67.06	gold quality
vermiform appendix	UBERON:0001154	66.73	gold quality
prefrontal cortex	UBERON:0000451	66.53	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting HAS1, 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-5680	99.91	69.83	3421
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-3620-3P	97.78	64.88	772
HSA-MIR-6859-3P	97.26	64.69	428
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-151A-5P	95.79	68.73	162
HSA-MIR-151B	95.79	68.73	162
HSA-MIR-4683	95.29	65.98	631

Literature-anchored findings (GeneRIF, showing 40)

• hyaluronan synthase expression in prostate adenocarcinoma cells (PMID:11790779)
• characterization of expression and hyaluronan synthesis in bone marrow mesenchymal progenitor cells: predominant expression of mRNA and up-regulated hyaluronan synthesis in bone marrow cells derived from multiple myeloma patients (PMID:12239172)
• Expression of HAS1 in Waldenstrom’s macroglobulinemia. Variants of HAS1 synthesize the intracellular HA ligand for RHAMM and may contribute to genetic instability in Waldenstrom’s macroglobulinemia. (PMID:12720129)
• Expression of each hyaluronan synthase isoform is regulated differently by growth factors and cytokines in vascular endothelial cells. Expressed in proliferative membranes from proliferative vitreoretinal diseases. May affect progression of diseases. (PMID:14636845)
• hyaluronan synthase 1 variants have a role in progression of multiple myeloma (PMID:15731173)
• Increased HAS1 expression and an increase in serum hyaluronan in endometrial cancer may be associated with disease progression through myometrial invasion and lymph-vascular space involvement (PMID:15870928)
• IkappaB kinase and IkappaBalpha reveal NF-kappaB-dependent as well as NF-kappaB-independent pathways of HAS1 activation (PMID:16258173)
• mRNA for HAS1 is undetectable but HAS3 mRNA can be readily detected in freshly isolated CD133+ as well as in CD133- umbilical cord blood (UCB) cells. mRNA for HAS2 can only be detected in CD133+ progenitor cells. (PMID:16564133)
• Evidence is provided that in type-B synoviocytes (TBS) HAS1 is a gene that depends on the transcription factor nuclear factor kappa B (NF-kappaB) for its activation. (PMID:16723203)
• The aim of this study was to evaluate how TNF-alpha, IFN-gamma,IL-1beta, and exposition to oxidative stress may modulate HAS activities in normal human skin fibroblasts. (PMID:16786194)
• Interleukin-1beta stimulation resulted in induction of HAS1 and HAS2 transcription but did not induce phenotypic differentiation or induce hyaluronan coat assembly (PMID:17611197)
• HAS1 captured in this pull-down approach is readily immunodetected by Western blot analysis using appropriate antibodies. (PMID:17904513)
• Treatment of fibroblasts with growth factors up-regulated HAS gene expression and increased HAS enzymes and HA production. (PMID:17922656)
• HAS1 regulates bladder cancer growth and progression by modulating hyaluronic acid synthesis and hyaluronic acid receptor levels. (PMID:18199543)
• HAS1 is activated by Epstein-Barr virus and synthetic double- and single-stranded viral RNA analogs (PMID:18400745)
• genetic contributions toward aberrant splicing of the HAS1 gene in multiple myeloma and Waldenstrom macroglobulinemia were characterized; 3616 bp in HAS1 exons and introns involved in aberrant splicing, from 17 patients were sequenced (PMID:18815290)
• HAS expression in human articular chondrocytes during the de- and re-differentiation processes. (PMID:19148550)
• By intensive sequencing of the hyaluronan synthase 1 (HAS1) gene in malignant and normal cells from patients with WM, we have identified both types of mutation in HAS1 exons and introns. (PMID:19362966)
• HAS1, HAS2 and HAS3 expression is not consistently elevated in ovarian carcinomas. (PMID:19435493)
• HAS1 (Hyaluronan Synthase 1) splice variants multimerize with and modulate normally spliced HAS1 protein (PMID:19451652)
• Transfection with siHAS2 and siHAS1 showed that mainly HAS1 synthesized high molecular weight HA regulates HT1080 cell motility. (PMID:19577615)
• HAS activity can be modulated by post-translational modification, such as phosphorylation and N-glycosylation (PMID:19737932)
• Data show that a significant in expression levels of HA synthases (HASs) and hyaluronidases (Hyals) was observed in vitro on stimulation of epithelial ovarian carcinoma cells by gonadotropins. (PMID:20072653)
• Hyaluronan synthases (HAS1-3) and hyaluronidases (HYAL1-2) in the accumulation of hyaluronan in endometrioid endometrial carcinoma (PMID:20875124)
• HYAL-1 and HAS1 expression predicted bladder cancer metastasis, and HYAL-1 expression also predicted disease-specific survival. (PMID:20960509)
• this study provides strong evidence that HAS1-driven Hyaluonan-synthesis is a target of estradiol in human vascular smooth muscle cells (PMID:21901291)
• analysis of changes in cervical glycosaminoglycan composition during normal pregnancy and preterm birth: Has1 is expressed in preterm birth, while Has2 is induced at term (PMID:22529214)
• HA chains synthesized by HAS1 and HAS2 contribute to outflow resistance, while hyaluronan produced by HAS3 does not appear to play a significant role. (PMID:22695958)
• Among the genes affected by FAK or HAS3 inhibition were genes, playing role in apoptosis, cell cycle regulation, adhesion, transcription, heatshock and WNT pathways. (PMID:22934709)
• TGF-beta1 up-regulation of HAS1 transcription was mediated via Smad3 but not Smad2, while HAS1 induction by IL-1beta was Sp3, not Sp1, dependent. (PMID:23123404)
• aberrant intronic HAS1 splicing in multiple myeloma patients may rely on intronic HAS1 deletions and mutations that are frequent in MM patients but absent from healthy donors (PMID:23301075)
• Hyaluronan synthase 1 (HAS1) requires higher cellular UDP-GlcNAc concentration than HAS2 and HAS3 (PMID:23303191)
• Inverse expression of hyaluronidase 2 and hyaluronan synthases 1-3 is associated with reduced hyaluronan content in malignant cutaneous melanoma. (PMID:23560496)
• The HAS1-dependent coat is induced by inflammatory agents and glycemic stress, mediated by altered presentation of either CD44 or hyaluronan, and can offer a rapid cellular response to injury and inflammation. (PMID:24099991)
• HAS1 is the main enzyme responsible for hyaluronan production by normal keratinocytes. (PMID:24658508)
• The minor allele genotypes of HAS1 SNPs are significantly more frequent in MM, WM, CLL and in affected members of a monoclonal gammopathy-prone family than they are in breast cancer, sporadic MGUS or healthy donors (PMID:24950197)
• transcriptional regulation of the HAS and HAS2-antisense RNA 1 genes, was analyzed. (PMID:25325984)
• Regulation of Hyaluronan (HA) Metabolism Mediated by HYBID (Hyaluronan-binding Protein Involved in HA Depolymerization, KIAA1199) and HA Synthases in Growth Factor-stimulated Fibroblasts. (PMID:26518873)
• Reduced expression of HAS1 and HAS2 is associated with melanoma progression and suggests that HAS1 and HAS2 have a prognostic significance in cutaneous melanoma. (PMID:27184066)
• hyaluronic acid synthase-1 promotes malignant transformation via epithelial-to-mesenchymal transition, micronucleation and centrosome abnormalities (PMID:29137675)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Has1	ENSMUSG00000003665
rattus_norvegicus	Has1	ENSRNOG00000010994

Paralogs (2): HAS3 (ENSG00000103044), HAS2 (ENSG00000170961)

Protein

Protein identifiers

Hyaluronan synthase 1 — Q92839 (reviewed: Q92839)

Alternative names: Hyaluronate synthase 1, Hyaluronic acid synthase 1

All UniProt accessions (5): Q92839, G3V1S7, M0QXH4, M0R1L3, M0R2V0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential for the synthesis of hyaluronan, a major component of most extracellular matrices that has a structural role in tissue architecture and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito-oligosaccharide depending on the substrate.

Subcellular location. Membrane.

Tissue specificity. Widely expressed. Highly expressed in ovary followed by spleen, thymus, prostate, testes and large intestine. Weakly expressed in small intestine.

Pathway. Glycan biosynthesis; hyaluronan biosynthesis.

Similarity. Belongs to the NodC/HAS family.

RefSeq proteins (2): NP_001284365, NP_001514 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily

Pfam: PF13641

Enzyme classification (BRENDA):

• EC 2.4.1.212 — hyaluronan synthase (BRENDA: 17 organisms, 94 substrates, 53 inhibitors, 81 Km, 9 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-D-GLUCOSAMINE	0.053–1.1	31
UDP-D-GLUCURONATE	0.032–0.93	28
UDP-D-GLUCOSAMINE	0.258–0.84	5
UDP-ALPHA-D-GLUCURONATE	0.014–0.8	2
HYALURONAN OLIGOMER HA4	0.7	1
HYALURONAN OLIGOMER HA5	0.6	1
HYALURONAN OLIGOMER HA6	1	1
HYALURONAN OLIGOMER HA8	0.7	1
HYALURONIC ACID TETRASACCHARIDE	0.91	1
UDP-ALPHA-N-ACETYL-D-GLUCOSAMINE	0.66	1
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	23.4	1

Catalyzed reactions (Rhea), 2 shown:

• N-acetyl-beta-D-glucosaminyl-(1->4)-hyaluronan + UDP-alpha-D-glucuronate = hyaluronan + UDP + H(+) (RHEA:12528)
• hyaluronan + UDP-N-acetyl-alpha-D-glucosamine = N-acetyl-beta-D-glucosaminyl-(1->4)-hyaluronan + UDP + H(+) (RHEA:20465)

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence conflict 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92839-F1	88.79	0.74

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2142845	Hyaluronan metabolism

MSigDB gene sets: 153 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, ATF_B, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_FIBROBLAST_MIGRATION, GOBP_EXTRACELLULAR_MATRIX_ASSEMBLY, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, COUP_01, CREB_Q4, GOBP_HYALURONAN_METABOLIC_PROCESS, ATF1_Q6

GO Biological Process (7): polysaccharide biosynthetic process (GO:0000271), glycosaminoglycan biosynthetic process (GO:0006024), cell adhesion (GO:0007155), negative regulation of fibroblast migration (GO:0010764), hyaluronan biosynthetic process (GO:0030213), cellular response to platelet-derived growth factor stimulus (GO:0036120), extracellular matrix assembly (GO:0085029)

GO Molecular Function (5): identical protein binding (GO:0042802), hyaluronan synthase activity (GO:0050501), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycosaminoglycan metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
polysaccharide metabolic process	1
macromolecule biosynthetic process	1
carbohydrate biosynthetic process	1
aminoglycan biosynthetic process	1
glycosaminoglycan metabolic process	1
cellular process	1
fibroblast migration	1
regulation of fibroblast migration	1
negative regulation of cell migration	1
glycosaminoglycan biosynthetic process	1
hyaluronan metabolic process	1
response to platelet-derived growth factor	1
cellular response to growth factor stimulus	1
cellular component assembly	1
extracellular matrix organization	1
protein binding	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2784 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HAS1	CD44	P16070	761
HAS1	HYAL1	Q12794	725
HAS1	HYAL2	Q12891	684
HAS1	ACAN	P16112	670
HAS1	SPAM1	P38567	636
HAS1	UGDH	O60701	593
HAS1	HABP2	Q14520	547
HAS1	TNFAIP6	P98066	522
HAS1	HMMR	O75330	492
HAS1	VCAN	P13611	468
HAS1	HAPLN4	Q86UW8	450
HAS1	ITIH2	P19823	447
HAS1	HYAL3	O43820	432
HAS1	GAPDH	P00354	417
HAS1	HYAL4	Q2M3T9	410

IntAct

29 interactions, top by confidence:

A	B	Type	Score
HAS2	HAS1	psi-mi:“MI:0915”(physical association)	0.550
HAS1	HAS2	psi-mi:“MI:0403”(colocalization)	0.550
HAS2	HAS1	psi-mi:“MI:2364”(proximity)	0.550
HAS1	HAS2	psi-mi:“MI:2364”(proximity)	0.550
HAS3	HAS1	psi-mi:“MI:0915”(physical association)	0.520
HAS1	HAS1	psi-mi:“MI:0915”(physical association)	0.520
HAS1	HAS1	psi-mi:“MI:0403”(colocalization)	0.520
HAS1	HAS3	psi-mi:“MI:0403”(colocalization)	0.520
HAS1	HAS1	psi-mi:“MI:2364”(proximity)	0.520
HAS3	HAS1	psi-mi:“MI:2364”(proximity)	0.520
HAS1	HAS3	psi-mi:“MI:2364”(proximity)	0.520
VHL	HAS1	psi-mi:“MI:0915”(physical association)	0.000
EIF6	HAS1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Negative Genetic), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Affinity Capture-MS), HAS1 (Co-fractionation), HAS1 (Co-fractionation)

ESM2 similar proteins: A1A4L8, A1A4Q9, A1L134, A2BDX3, A5YM72, A6H707, B0BLZ5, B0JZP3, G3MZR2, O43292, O60831, O89109, P70295, Q11130, Q2TBP5, Q2V8X7, Q32NY4, Q3UPE3, Q4R4E4, Q4R4I9, Q5XIE1, Q5ZIW1, Q66HR0, Q6IQX7, Q6NRK8, Q6P2H8, Q7L1V2, Q80ZW2, Q86VU5, Q8IZ52, Q8N3Y3, Q8NE01, Q8NF37, Q8NI29, Q8TAC2, Q8TCD5, Q8TD43, Q8WUY1, Q92839, Q96DE0

Diamond homologs: B1WB39, G5AY81, O00219, O08650, O35776, O57424, O57425, O57426, O57427, O57428, O97711, P04341, P13563, P17862, P70312, Q07755, Q61647, Q92819, Q92839, P50356, P72334, Q8SSI7, D4GYH3, P04340, P04677, P0C0H0, P0C0H1, P0DB60, P0DB61, P24151, P26024, P50357, P53417, Q4UM29, Q5X9A9, Q8NKX1, Q9VUT6, O13356, P04678, P04679

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	109
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3658 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:51714027:C:A	W379C	1.000
19:51714027:C:G	W379C	1.000
19:51714029:A:G	W379R	1.000
19:51714029:A:T	W379R	1.000
19:51714039:C:A	Q375H	1.000
19:51714039:C:G	Q375H	1.000
19:51716289:G:A	T343I	1.000
19:51716300:G:C	D339E	1.000
19:51716300:G:T	D339E	1.000
19:51716301:T:A	D339V	1.000
19:51716301:T:C	D339G	1.000
19:51716301:T:G	D339A	1.000
19:51716302:C:G	D339H	1.000
19:51716304:T:A	D338V	1.000
19:51716307:C:T	G337E	1.000
19:51716347:A:G	W324R	1.000
19:51716347:A:T	W324R	1.000
19:51717029:G:C	F289L	1.000
19:51717029:G:T	F289L	1.000
19:51717031:A:G	F289L	1.000
19:51717180:T:A	D239V	1.000
19:51717186:T:A	D237V	1.000
19:51717186:T:G	D237A	1.000
19:51719263:C:A	K215N	1.000
19:51719263:C:G	K215N	1.000
19:51713700:C:A	W488C	0.999
19:51713700:C:G	W488C	0.999
19:51714050:A:G	W372R	0.999
19:51714050:A:T	W372R	0.999
19:51714081:G:C	C361W	0.999

dbSNP variants (sampled 300 via entrez): RS1000217056 (19:51723502 A>G), RS1000470620 (19:51722936 G>A), RS1000759585 (19:51723188 G>A), RS1000795865 (19:51718990 T>C), RS1001220062 (19:51724625 C>T), RS1001297598 (19:51712948 C>T), RS1001672773 (19:51717911 T>A), RS1001752958 (19:51724368 C>T), RS1001792241 (19:51717517 G>T), RS1001832541 (19:51714913 C>A), RS1001921382 (19:51723465 C>T), RS1002527379 (19:51724654 A>T), RS1002549274 (19:51713697 G>A,C), RS1002679135 (19:51719351 A>C,G), RS1002763963 (19:51725427 G>A)

Disease associations

OMIM: gene MIM:601463 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myoepithelial tumor (MONDO:0002380)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
bisphenol A	affects cotreatment, decreases expression	1
glycidyl methacrylate	increases expression	1
methylparaben	decreases expression	1
4-phenylenediamine	increases expression	1
puerarin	decreases expression	1
epigallocatechin gallate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
osajin	decreases expression	1
rosavin	decreases expression	1
licochalcone B	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Resveratrol	decreases expression	1
Bee Venoms	increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Chlorogenic Acid	increases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1
Dinitrochlorobenzene	increases expression	1
Estradiol	decreases expression, affects cotreatment	1
Hyaluronic Acid	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lead	affects expression	1
Lovastatin	increases expression	1
Malathion	increases expression	1
Ozone	increases expression	1
Progesterone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis