MYBL1

Summary

MYBL1 (MYB proto-oncogene like 1, HGNC:7547) is a protein-coding gene on chromosome 8q13.1, encoding Myb-related protein A (P10243). Transcription factor that specifically recognizes the sequence 5’-YAAC[GT]G-3'.

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm.

Source: NCBI Gene 4603 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 81 total — 1 pathogenic
• Transcription factor: yes — 13 downstream targets (CollecTRI)
• MANE Select transcript: NM_001080416

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7547
Approved symbol	MYBL1
Name	MYB proto-oncogene like 1
Location	8q13.1
Locus type	gene with protein product
Status	Approved
Aliases	AMYB, A-myb
Ensembl gene	ENSG00000185697
Ensembl biotype	protein_coding
OMIM	159405
Entrez	4603

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000517885, ENST00000518079, ENST00000522419, ENST00000522677, ENST00000523304, ENST00000524176, ENST00000905220, ENST00000905221, ENST00000917736, ENST00000970629, ENST00000970630, ENST00000970631, ENST00000970632, ENST00000970633

RefSeq mRNA: 3 — MANE Select: NM_001080416 NM_001080416, NM_001144755, NM_001294282

CCDS: CCDS47867, CCDS55241

Canonical transcript exons

ENST00000522677 — 16 exons

Exon	Start	End
ENSE00001291159	66566876	66566992
ENSE00001303888	66573364	66573506
ENSE00001307573	66576007	66576375
ENSE00001309632	66595583	66595757
ENSE00001311640	66580133	66580366
ENSE00001319101	66592440	66592544
ENSE00001324472	66593120	66593194
ENSE00001332272	66572482	66572596
ENSE00001412931	66562175	66564825
ENSE00001414765	66566064	66566243
ENSE00001696397	66597330	66597550
ENSE00002118491	66612819	66613218
ENSE00003487718	66566684	66566788
ENSE00003560967	66602418	66602523
ENSE00003644791	66601698	66601769
ENSE00003683894	66599050	66599142

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 96.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9409 / max 199.4382, expressed in 1179 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93407	2.3982	606
93409	2.3084	890
93410	1.0347	560
93408	0.1563	54
93411	0.0345	14
93412	0.0087	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.07	gold quality
vena cava	UBERON:0004087	94.44	gold quality
sperm	CL:0000019	90.98	gold quality
body of tongue	UBERON:0011876	90.52	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.82	silver quality
pons	UBERON:0000988	89.68	gold quality
granulocyte	CL:0000094	89.63	gold quality
blood vessel layer	UBERON:0004797	88.80	gold quality
male germ cell	CL:0000015	88.67	gold quality
tendon	UBERON:0000043	88.67	gold quality
parotid gland	UBERON:0001831	88.57	silver quality
pericardium	UBERON:0002407	87.60	gold quality
superior surface of tongue	UBERON:0007371	87.40	gold quality
pylorus	UBERON:0001166	87.32	gold quality
cardia of stomach	UBERON:0001162	87.03	gold quality
tongue	UBERON:0001723	86.87	silver quality
pharyngeal mucosa	UBERON:0000355	86.62	silver quality
subthalamic nucleus	UBERON:0001906	85.26	gold quality
ventral tegmental area	UBERON:0002691	85.17	silver quality
inferior vagus X ganglion	UBERON:0005363	85.14	gold quality
heart right ventricle	UBERON:0002080	85.08	silver quality
nipple	UBERON:0002030	85.07	gold quality
saphenous vein	UBERON:0007318	84.45	silver quality
lateral globus pallidus	UBERON:0002476	84.18	silver quality
substantia nigra pars compacta	UBERON:0001965	83.80	gold quality
superior vestibular nucleus	UBERON:0007227	83.56	gold quality
tibia	UBERON:0000979	83.39	gold quality
substantia nigra pars reticulata	UBERON:0001966	83.20	silver quality
lymph node	UBERON:0000029	83.18	gold quality
globus pallidus	UBERON:0001875	82.96	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.04
E-MTAB-8911	no	299.08

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

13 targets.

Target	Regulation
ACOT11
BCL2
CD34
CDX1
CREBBP
DHRS2	Unknown
GATA1	Activation
GNAS
LDHC
MIMT1
MYC	Activation
NCL	Unknown
NLK

JASPAR motifs

Motif	Name	Family
MA0776.1	MYBL1	Myb/SANT domain factors

JASPAR matrix evidence (PMIDs): PMID:21998171

Upstream regulators (CollecTRI, top): CEBPA, MYC, SP1

miRNA regulators (miRDB)

260 targeting MYBL1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-103A-3P	99.98	69.14	1595

Literature-anchored findings (GeneRIF, showing 16)

• analysis of genetic alterations in MYBL1 in diffuse pediatric low-grade gliomas (PMID:23633565)
• Thus, the LIMD1-MYBL1 Index had considerable clinical value for DLBCL subtype classification and prognosis. (PMID:25940947)
• Our study defines new molecular subclasses of ACC characterized by MYBL1 rearrangements and 5’-NFIB gene fusions. (PMID:26631609)
• Low MYBL1 expression is associated with colon cancer. (PMID:28096468)
• Breast adenoid cystic carcinomas probably constitute a convergent phenotype, whereby activation of MYB and MYBL1 and their downstream targets can be driven by the MYB-NFIB fusion gene, MYBL1 rearrangements, MYB amplification, or other yet to be identified mechanisms. (PMID:29149504)
• In the present study, MYB or MYBL1 locus rearrangement was detected in nearly all adenoid cystic carcinoma cases, and therefore it would be a good diagnostic marker for adenoid cystic carcinoma. (PMID:29410490)
• MYBL1 alterations are detected in primary cutaneous adenoid cystic carcinoma but are apparently less common compared with MYB and NFIB alterations. (PMID:29570128)
• These findings suggest that rearrangement involving MYB or MYBL1 is a hallmark of tracheobronchial adenoid cystic carcinoma. (PMID:31028361)
• Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. (PMID:31563982)
• A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration. (PMID:31595312)
• MYBL1 induces transcriptional activation of ANGPT2 to promote tumor angiogenesis and confer sorafenib resistance in human hepatocellular carcinoma. (PMID:35987690)
• Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases. (PMID:36074655)
• Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments. (PMID:36591240)
• Adenoid cystic carcinoma of the Bartholin’s gland is underpinned by MYB- and MYBL1- rearrangements. (PMID:38368814)
• Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes’ Relationship to Alterations Identified at the Chromosome 8q Loci. (PMID:38473786)
• Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy. (PMID:38797732)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mybl1	ENSDARG00000030999
danio_rerio	mybl2a	ENSDARG00000095241
mus_musculus	Mybl1	ENSMUSG00000025912
rattus_norvegicus	Mybl1	ENSRNOG00000021669
drosophila_melanogaster	Myb	FBGN0002914

Paralogs (6): CDC5L (ENSG00000096401), MYBL2 (ENSG00000101057), MYB (ENSG00000118513), TTF1 (ENSG00000125482), DMTF1 (ENSG00000135164), SNAPC4 (ENSG00000165684)

Protein

Protein identifiers

Myb-related protein A — P10243 (reviewed: P10243)

Alternative names: Myb-like protein 1

All UniProt accessions (3): E7EWZ1, P10243, Q495G0

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that specifically recognizes the sequence 5’-YAAC[GT]G-3’. Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Transcriptional activator of SOX30.

Subunit / interactions. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2.

Subcellular location. Nucleus.

Tissue specificity. Expressed in a variety of lymphoid and solid tumor lines cultured in vitro.

Isoforms (2)

UniProt ID	Names	Canonical?
P10243-1	1	yes
P10243-2	2

RefSeq proteins (3): NP_001073885, NP_001138227, NP_001281211 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR012642	Tscrpt_reg_Wos2-domain	Domain
IPR015395	C-myb_C	Domain
IPR017930	Myb_dom	Domain
IPR050560	MYB_TF	Family

Pfam: PF00249, PF07988, PF09316, PF13921

UniProt features (16 total): region of interest 4, domain 3, cross-link 3, DNA-binding region 3, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10243-F1	58.19	0.21

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 (4): 394, 199, 592, 602

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5601884	PIWI-interacting RNA (piRNA) biogenesis
R-HSA-211000	Gene Silencing by RNA
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 306 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, WALLACE_PROSTATE_CANCER_RACE_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MODULE_169, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_MALE_GAMETE_GENERATION, GNF2_ZAP70, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_ORGANELLE_FISSION, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN

GO Biological Process (8): mitotic cell cycle (GO:0000278), male meiosis I (GO:0007141), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of piRNA transcription (GO:0140543), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Gene Silencing by RNA	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
male gamete generation	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
cell cycle	1
mitotic nuclear division	1
meiosis I	1
male meiotic nuclear division	1
meiotic cell cycle	1
developmental process involved in reproduction	1
cellular developmental process	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
piRNA transcription	1
regulation of piRNA transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2046 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYBL1	LIN9	Q5TKA1	679
MYBL1	BCL7A	Q4VC05	622
MYBL1	NFIB	O00712	598
MYBL1	LMO2	P25791	563
MYBL1	TP53	P04637	546
MYBL1	KIAA1549	Q9HCM3	542
MYBL1	CCND2	P30279	526
MYBL1	ARFGEF1	Q9Y6D6	512
MYBL1	PDCD2	Q16342	510
MYBL1	BCL6	P41182	509
MYBL1	GPR183	P32249	491
MYBL1	MME	P08473	460
MYBL1	LIN54	Q6MZP7	435
MYBL1	MOV10L1	Q9BXT6	432
MYBL1	FGFR1	P11362	432

IntAct

15 interactions, top by confidence:

A	B	Type	Score
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
LIN37	MYBL1	psi-mi:“MI:0914”(association)	0.640
LIN9	MYBL1	psi-mi:“MI:0914”(association)	0.530
MYBL1	LIN52	psi-mi:“MI:0914”(association)	0.530
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
MYBL1	ATP5PO	psi-mi:“MI:0915”(physical association)	0.400
MYBL1	HID1	psi-mi:“MI:0915”(physical association)	0.400
Lin54	MYBL1	psi-mi:“MI:0915”(physical association)	0.400
LIN37	RPLP1	psi-mi:“MI:0914”(association)	0.350
LIN54	HDAC3	psi-mi:“MI:0914”(association)	0.350
LIN37	SCGB1D2	psi-mi:“MI:0914”(association)	0.350
LIN37	LYPLA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): MYBL1 (Affinity Capture-MS), LIN9 (Affinity Capture-MS), MYBL1 (Affinity Capture-MS), LIN52 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), NCL (Affinity Capture-Western), NCL (Far Western), HID1 (Proximity Label-MS), ATP5O (Proximity Label-MS), LIN9 (Affinity Capture-MS), MYBL1 (Affinity Capture-MS), MYBL1 (Affinity Capture-MS), LIN54 (Affinity Capture-MS), LIN52 (Affinity Capture-MS), MYBL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4GMU2, A0A2K1J5A5, A3GGG8, B4GBA9, B4QC10, C4R5N0, H2KZ49, K8ERR8, O74986, P10243, P25028, P34427, P34469, P34518, P46012, P46946, P48437, P51960, P52550, P59597, Q03237, Q05935, Q08729, Q08981, Q09599, Q0P5H2, Q10932, Q18412, Q24141, Q290S5, Q69Z38, Q6FU75, Q6FUD9, Q6FWU4, Q7JXA8, Q7KW09, Q8R2M2, Q91018, Q9GSR1, Q9H792

Diamond homologs: A0A1U8QIH0, A0A1U8QVN4, A0A6S6AAU0, A2WW87, A7SD85, B0G0Y5, B4FNX4, C8VBH3, E0CJS3, F1B281, F4IRB4, K7UPS5, O04192, O13493, O49608, O49782, O80883, P01103, P01104, P04197, P06876, P0CO94, P10242, P10243, P10244, P20025, P22035, P34127, P39964, P46200, P48972, P51960, P52550, P52551, P81393, P81394, P92948, P9WEF9, Q03237, Q05935

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NCL	“down-regulates activity”	MYBL1	binding
CREBBP	“up-regulates activity”	MYBL1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 14 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
Polo-like kinase mediated events	5	317.2×	8e-11
Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1	5	300.5×	8e-11
Transcription of E2F targets under negative control by DREAM complex	5	271.9×	9e-11
G0 and Early G1	5	219.6×	2e-10
G1/S-Specific Transcription	5	178.4×	5e-10
Cyclin E associated events during G1/S transition	5	142.8×	1e-09
Cyclin A:Cdk2-associated events at S phase entry	5	132.8×	2e-09

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	59
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
495136	t(8;9)(q13.1;p22.3)	Pathogenic

SpliceAI

2760 predictions. Top by Δscore:

Variant	Effect	Δscore
8:66564722:C:CT	donor_gain	1.0000
8:66564723:T:TT	donor_gain	1.0000
8:66566244:C:CC	acceptor_gain	1.0000
8:66566972:C:CT	acceptor_gain	1.0000
8:66566993:C:CC	acceptor_gain	1.0000
8:66566998:T:TC	acceptor_gain	1.0000
8:66573362:AC:A	donor_gain	1.0000
8:66573363:CC:C	donor_gain	1.0000
8:66573363:CCCTA:C	donor_gain	1.0000
8:66573507:C:CC	acceptor_gain	1.0000
8:66580127:ACT:A	donor_loss	1.0000
8:66580130:T:TG	donor_loss	1.0000
8:66580131:A:AC	donor_gain	1.0000
8:66580131:A:AG	donor_loss	1.0000
8:66580132:C:CA	donor_gain	1.0000
8:66580132:CA:C	donor_gain	1.0000
8:66580132:CAG:C	donor_gain	1.0000
8:66580132:CAGA:C	donor_gain	1.0000
8:66580132:CAGAT:C	donor_gain	1.0000
8:66580364:CTG:C	acceptor_gain	1.0000
8:66592431:A:AC	donor_gain	1.0000
8:66592432:T:C	donor_gain	1.0000
8:66592436:TTA:T	donor_loss	1.0000
8:66592437:TACTG:T	donor_loss	1.0000
8:66592438:A:AC	donor_gain	1.0000
8:66592438:A:T	donor_loss	1.0000
8:66592439:C:A	donor_loss	1.0000
8:66592439:C:CT	donor_gain	1.0000
8:66592439:CT:C	donor_gain	1.0000
8:66592439:CTG:C	donor_gain	1.0000

AlphaMissense

4988 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:66564794:C:A	G721V	1.000
8:66564794:C:T	G721E	1.000
8:66564795:C:A	G721W	1.000
8:66595712:T:A	R186S	1.000
8:66595712:T:G	R186S	1.000
8:66595713:C:G	R186T	1.000
8:66595716:C:G	R185P	1.000
8:66595719:A:C	M184R	1.000
8:66595719:A:G	M184T	1.000
8:66595719:A:T	M184K	1.000
8:66595722:G:A	T183I	1.000
8:66595725:G:A	S182F	1.000
8:66595726:A:G	S182P	1.000
8:66595727:A:C	N181K	1.000
8:66595727:A:T	N181K	1.000
8:66595728:T:A	N181I	1.000
8:66595728:T:G	N181T	1.000
8:66595729:T:C	N181D	1.000
8:66595730:C:A	W180C	1.000
8:66595730:C:G	W180C	1.000
8:66595731:C:A	W180L	1.000
8:66595731:C:G	W180S	1.000
8:66595732:A:C	W180G	1.000
8:66595732:A:G	W180R	1.000
8:66595732:A:T	W180R	1.000
8:66595733:A:C	H179Q	1.000
8:66595733:A:T	H179Q	1.000
8:66595734:T:A	H179L	1.000
8:66595734:T:C	H179R	1.000
8:66595734:T:G	H179P	1.000

dbSNP variants (sampled 300 via entrez): RS1000015223 (8:66592126 C>T), RS1000049764 (8:66575886 A>G), RS1000091248 (8:66610861 C>A,T), RS1000210720 (8:66613414 T>C), RS1000223409 (8:66569219 T>C), RS1000310745 (8:66583521 G>T), RS1000410876 (8:66562552 T>A), RS1000437946 (8:66610837 C>T), RS1000523170 (8:66600094 A>G), RS1000533313 (8:66569132 G>A), RS1000599966 (8:66571128 T>C,G), RS1000634741 (8:66570492 C>A,T), RS1000660809 (8:66570361 G>A), RS1000755844 (8:66563243 T>C), RS1000761308 (8:66613618 C>A,G,T)

Disease associations

OMIM: gene MIM:159405 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): adenoid cystic carcinoma (MONDO:0004971)

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
D003528	Carcinoma, Adenoid Cystic	C04.557.470.200.025.220

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects reaction, increases expression, affects cotreatment, decreases expression, decreases reaction	11
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Cyclosporine	decreases expression, increases expression	4
sodium arsenite	decreases expression, increases abundance, increases expression, affects cotreatment	3
Arsenic Trioxide	decreases expression	3
Benzo(a)pyrene	increases expression	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	3
bisphenol A	decreases expression, increases expression	2
trichostatin A	affects expression, increases expression	2
Fulvestrant	decreases reaction, increases expression, decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Silicon Dioxide	decreases expression, increases expression	2
Aflatoxin B1	affects expression, increases expression	2
Genistein	decreases expression, increases expression	2
Raloxifene Hydrochloride	affects cotreatment, decreases expression	2
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
daidzein	increases expression, decreases reaction	1
oxybenzone	decreases reaction, increases expression	1
triphenyl phosphate	affects expression	1
kaempferol	increases expression, decreases reaction	1
geraniol	decreases expression	1
methylparaben	decreases expression	1
afimoxifene	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
cupric oxide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00581360	PHASE2	COMPLETED	Phase II Trial of Doxorubicin and Bortezomib in Patients With Incurable Adenoid Cystic Carcinoma of the Head and Neck
NCT00886132	PHASE2	COMPLETED	A Study of Sunitinib in Recurrent and/or Metastatic Adenoid Cystic Carcinoma of the Salivary Glands
NCT01152840	PHASE2	COMPLETED	Study of RAD001 in Adenoid Cystic Carcinoma
NCT01417143	PHASE2	COMPLETED	Dovitinib in Adenoid Cystic Carcinoma
NCT01524692	PHASE2	COMPLETED	Study of Dovitinib (TKI258) in Adenoid Cystic Carcinoma
NCT01558661	PHASE2	COMPLETED	Axitinib (AG-013736) in Patients With Progressive, Recurrent/Metastatic Adenoid Cystic Carcinoma
NCT02098538	PHASE2	COMPLETED	Regorafenib in Patients With Progressive, Recurrent/Metastatic Adenoid Cystic Carcinoma
NCT02775370	PHASE2	UNKNOWN	A Study of Apatinib in Recurrent/Metastatic Adenoid Cystic Carcinoma of the Head and Neck
NCT02780310	PHASE2	ACTIVE_NOT_RECRUITING	Testing Lenvatinib in Patients With Adenoid Cystic Carcinoma
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT02883374	PHASE2	UNKNOWN	Chidamide for Advanced Cephalic and Cervical Adenocystic Carcinoma: Evaluation of Efficiency and Safety
NCT02942693	PHASE2	UNKNOWN	Trail Evaluating Particle Therapy With or Without Apatinib for H&N Adenoid Cystic Carcinoma
NCT03087019	PHASE2	COMPLETED	Pembrolizumab With or Without Radiation in Patients With Recurrent or Metastatic Adenoid Cystic Carcinoma
NCT03639168	PHASE2	COMPLETED	Chidamide Combined With Cisplatin in Head and Neck Adenoid Cystic Carcinoma (HNACC)
NCT03691207	PHASE2	COMPLETED	A Study Of AL101In Patients With Adenoid Cystic Carcinoma (ACC) Bearing Activating Notch Mutations
NCT03990571	PHASE2	COMPLETED	Axitinib and Avelumab in Treating Patients With Recurrent or Metastatic Adenoid Cystic Carcinoma
NCT03999684	PHASE2	COMPLETED	A Trial of All-trans Retinoic Acid (ATRA) in Advanced Adenoid Cystic Carcinoma
NCT04119453	PHASE2	TERMINATED	A Study to Evaluate the Efficacy and Safety of Rivoceranib in Participants With Recurrent or Metastatic Adenoid Cystic Carcinoma (ACC)
NCT04209660	PHASE2	ACTIVE_NOT_RECRUITING	Lenvatinib and Pembrolizumab in People With Advanced Adenoid Cystic Carcinoma and Other Salivary Gland Cancers
NCT04214366	PHASE2	RECRUITING	Adenoid Cystic Carcinoma and Carbon Ion Only Irradiation
NCT04291300	PHASE2	COMPLETED	Lutetium-177-PSMA Radioligand Therapy in Advanced Salivary Gland Cancer Patients
NCT04832438	PHASE2	WITHDRAWN	9-ING-41 Plus Carboplatin in Patients With Advanced, Metastatic Salivary Gland Carcinoma
NCT04895735	PHASE2	ACTIVE_NOT_RECRUITING	MC200708 Pemetrexed and Pembrolizumab for the Treatment of Recurrent and/or Metastatic Salivary Gland Cancer
NCT05010629	PHASE2	ACTIVE_NOT_RECRUITING	9-ING-41 Plus Carboplatin in Salivary Gland Carcinoma
NCT06199453	PHASE2	WITHDRAWN	The Evaluation of the Effectiveness, Safety and Tolerability of Treatment, Using a PSMA-Lu177, in Patients with ACC- an Open, Non-commercial Clinical Trial
NCT06322576	PHASE2	TERMINATED	177Lu-PSMA (177Lu-PNT2002) in PSMA-Positive Adenoid Cystic Carcinoma
NCT06521775	PHASE2	COMPLETED	An Investigational Scan (Ga-68 PSMA-11 PET/CT) for the Detection of Therapy Response in Patients With Metastatic Adenoid Cystic Carcinoma
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT06781567	PHASE2	RECRUITING	Clinical Trial of HG146 Administered to Participants with Adenoid Cystic Carcinoma
NCT06805617	PHASE2	RECRUITING	A Phase 2 Trial of Ivonescimab for Patients With Advanced, Metastatic Salivary Gland Cancers
NCT06891560	PHASE2	RECRUITING	A Study of Enfortumab Vedotin in People With Adenoid Cystic Carcinoma
NCT07162480	PHASE2	RECRUITING	Phase II Trial of Puxitatug Samrotecan (AZD8205) in Advanced, Recurrent or Metastatic (R/M) Aggressive Adenoid Cystic Carcinoma Subtype I (ACC-I)
NCT07320508	PHASE2	RECRUITING	Epirubicin Interventional Chemotherapy for Sinonasal Adenoid Cystic Carcinoma (SNACC): A Prospective Study
NCT07521670	PHASE2	NOT_YET_RECRUITING	Sacituzumab Tirumotecan in Recurrent/Metastatic Adenoid Cystic Carcinoma and Papillary Thyroid Carcinoma (STRAP)
NCT07522879	PHASE2	RECRUITING	A Study of Becotatug Vedotin (MRG003) Combined With Epirubicin as Neoadjuvant Therapy for EGFR-Positive, Unresectable Recurrent Sinonasal Adenoid Cystic Carcinoma
NCT03287427	PHASE1	COMPLETED	MYPHISMO: MYB and PD-1 Immunotherapies Against Multiple Oncologies Trial
NCT03886831	PHASE1	COMPLETED	A Study of PRT543 in Participants With Advanced Solid Tumors and Hematologic Malignancies
NCT04249947	PHASE1	TERMINATED	P-PSMA-101 CAR-T Cells in the Treatment of Subjects With Metastatic Castration-Resistant Prostate Cancer (mCRPC) and Advanced Salivary Gland Cancers (SGC)
NCT04973683	PHASE1	ACTIVE_NOT_RECRUITING	AL101 Before Surgery for the Treatment of Notch Activated Adenoid Cystic Cancer
NCT05194072	PHASE1	TERMINATED	A Study of Felmetatug Vedotin/SGN-B7H4V in Advanced Solid Tumors