CNTRL

Summary

CNTRL (centriolin, HGNC:1858) is a protein-coding gene on chromosome 9q33.2, encoding Centriolin (Q7Z7A1). Involved in cell cycle progression and cytokinesis.

This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1.

Source: NCBI Gene 11064 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 363 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
• MANE Select transcript: NM_007018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1858
Approved symbol	CNTRL
Name	centriolin
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000119397
Ensembl biotype	protein_coding
OMIM	605496
Entrez	11064

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 13 retained_intron, 12 protein_coding, 11 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000373845, ENST00000373847, ENST00000373850, ENST00000373851, ENST00000373855, ENST00000373865, ENST00000431571, ENST00000468952, ENST00000491018, ENST00000685174, ENST00000685839, ENST00000686219, ENST00000686798, ENST00000687076, ENST00000687079, ENST00000687169, ENST00000688065, ENST00000688313, ENST00000688706, ENST00000688832, ENST00000689125, ENST00000689134, ENST00000689304, ENST00000689516, ENST00000689889, ENST00000689934, ENST00000690496, ENST00000690817, ENST00000691066, ENST00000691465, ENST00000692139, ENST00000692226, ENST00000692485, ENST00000693191, ENST00000934490, ENST00000934491, ENST00000963868

RefSeq mRNA: 7 — MANE Select: NM_007018 NM_001330762, NM_001369892, NM_001369893, NM_001369894, NM_001369895, NM_001369896, NM_007018

CCDS: CCDS35118, CCDS83409, CCDS94474

Canonical transcript exons

ENST00000373855 — 44 exons

Exon	Start	End
ENSE00001461781	121080306	121080478
ENSE00001681501	121090275	121090405
ENSE00001692489	121150170	121150483
ENSE00001720540	121096422	121096563
ENSE00001741596	121107802	121107995
ENSE00001802172	121094888	121095018
ENSE00001804444	121098386	121098572
ENSE00002726416	121088296	121088543
ENSE00003461785	121146108	121146256
ENSE00003465997	121168096	121168321
ENSE00003481548	121141381	121141588
ENSE00003483696	121175018	121175224
ENSE00003493946	121148672	121148861
ENSE00003496586	121140641	121140786
ENSE00003497030	121167489	121167677
ENSE00003516896	121138545	121138679
ENSE00003526933	121166107	121166180
ENSE00003531336	121161856	121161971
ENSE00003537043	121118346	121118540
ENSE00003537147	121164943	121165100
ENSE00003555236	121125716	121125936
ENSE00003564867	121112459	121112578
ENSE00003569722	121143903	121144082
ENSE00003581190	121162054	121162271
ENSE00003595297	121142091	121142270
ENSE00003612194	121173243	121173509
ENSE00003635948	121154721	121154913
ENSE00003644213	121157983	121158109
ENSE00003651256	121145244	121145385
ENSE00003651419	121160143	121160302
ENSE00003651985	121177163	121177610
ENSE00003653077	121115091	121115200
ENSE00003676632	121157740	121157880
ENSE00003678578	121169611	121169816
ENSE00003679119	121135806	121135982
ENSE00003682586	121157470	121157600
ENSE00003682921	121113502	121113724
ENSE00003684482	121173675	121173737
ENSE00003685658	121158855	121159019
ENSE00003686705	121123931	121124084
ENSE00003687362	121144843	121144959
ENSE00003688883	121171408	121171548
ENSE00003689830	121152485	121152693
ENSE00003913018	121074955	121075067

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 93.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0011 / max 305.8925, expressed in 1656 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98333	9.3537	1394
98334	4.7816	1197
98332	0.7038	408
98331	0.1158	39
98335	0.0352	16
98336	0.0110	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	93.04	gold quality
secondary oocyte	CL:0000655	92.97	silver quality
ventricular zone	UBERON:0003053	92.37	gold quality
bronchial epithelial cell	CL:0002328	91.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.54	gold quality
left testis	UBERON:0004533	91.51	gold quality
right testis	UBERON:0004534	91.14	gold quality
sural nerve	UBERON:0015488	90.86	gold quality
testis	UBERON:0000473	90.57	gold quality
sperm	CL:0000019	90.44	gold quality
monocyte	CL:0000576	90.33	gold quality
epithelium of bronchus	UBERON:0002031	90.27	gold quality
right uterine tube	UBERON:0001302	90.14	gold quality
mononuclear cell	CL:0000842	90.10	gold quality
bone marrow cell	CL:0002092	89.88	gold quality
bronchus	UBERON:0002185	89.86	gold quality
leukocyte	CL:0000738	89.78	gold quality
oocyte	CL:0000023	89.22	silver quality
lymph node	UBERON:0000029	89.13	gold quality
male germ cell	CL:0000015	88.89	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.71	gold quality
granulocyte	CL:0000094	88.57	gold quality
buccal mucosa cell	CL:0002336	88.51	silver quality
bone marrow	UBERON:0002371	88.42	gold quality
superficial temporal artery	UBERON:0001614	87.20	gold quality
epithelium of nasopharynx	UBERON:0001951	86.96	gold quality
tonsil	UBERON:0002372	86.94	gold quality
ganglionic eminence	UBERON:0004023	86.58	gold quality
colonic epithelium	UBERON:0000397	86.27	gold quality
tendon	UBERON:0000043	86.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting CNTRL, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-1208	99.70	68.28	1533

Literature-anchored findings (GeneRIF, showing 4)

• CEP110 is essential for the reformation of specific aspects of the interphase centrosome architecture following mitosis as well as being required for the centrosome to function as a MTOC. (PMID:11956314)
• We propose that centriolin anchors protein complexes required for vesicle targeting and fusion and integrates membrane-vesicle fusion with abscission. (PMID:16213214)
• CNTRL and FGFR1 have roles in myeloid and lymphoid malignancies in both human and mouse models (PMID:23777766)
• In this study, we present two new cases of CNTRL-FGFR1 fusion (PMID:31250523)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cntrl	ENSDARG00000088492
mus_musculus	Cntrl	ENSMUSG00000057110
rattus_norvegicus	Cntrl	ENSRNOG00000022015

Protein

Protein identifiers

Centriolin — Q7Z7A1 (reviewed: Q7Z7A1)

Alternative names: Centrosomal protein 1, Centrosomal protein of 110 kDa

All UniProt accessions (14): A0A8I5KPU9, A0A8I5KPW8, Q7Z7A1, A0A8I5KQ52, A0A8I5KUC8, A0A8I5KUP5, A0A8I5KVS2, A0A8I5KXL3, A0A8I5KXL5, A0A8I5KY43, A0A8I5QL39, Q5JVD1, Q5JVD3, Q5JVD6

UniProt curated annotations — full annotation on UniProt →

Function. Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.

Subunit / interactions. Interacts with HOOK2. Interacts with EXOC6 and SNAPIN. Associates with the exocyst complex.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody. Midbody ring.

Tissue specificity. Widely expressed with highest levels in testis and trachea.

Disease relevance. A chromosomal aberration involving CEP110 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7Z7A1-1	1	yes
Q7Z7A1-2	2
Q7Z7A1-3	3
Q7Z7A1-4	4
Q7Z7A1-5	5

RefSeq proteins (7): NP_001317691, NP_001356821, NP_001356822, NP_001356823, NP_001356824, NP_001356825, NP_008949* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050836	SDS22/Internalin_LRR	Family

Pfam: PF14580

UniProt features (34 total): region of interest 5, splice variant 5, repeat 4, coiled-coil region 4, compositionally biased region 4, sequence variant 4, sequence conflict 3, modified residue 2, chain 1, site 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z7A1-F1	60.85	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 2139–2140 (breakpoint for translocation to form cep110-fgfr1)

Post-translational modifications (2): 831, 1475

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1839117	Signaling by cytosolic FGFR1 fusion mutants
R-HSA-5655302	Signaling by FGFR1 in disease

MSigDB gene sets: 181 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ARTERY_DEVELOPMENT, GOCC_MICROTUBULE_ORGANIZING_CENTER, PUJANA_CHEK2_PCC_NETWORK, GOBP_AORTA_DEVELOPMENT, GOCC_CENTROSOME, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT, GOBP_VENTRICULAR_SEPTUM_DEVELOPMENT, PARK_HSC_AND_MULTIPOTENT_PROGENITORS, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOCC_SPINDLE

GO Biological Process (6): kidney development (GO:0001822), ventricular septum development (GO:0003281), aorta development (GO:0035904), cell division (GO:0051301), coronary vasculature development (GO:0060976), cardiac septum development (GO:0003279)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (18): Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), microtubule organizing center (GO:0005815), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), perinuclear region of cytoplasm (GO:0048471), Flemming body (GO:0090543), meiotic spindle pole (GO:0090619), mitotic spindle pole (GO:0097431), centriolar subdistal appendage (GO:0120103), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630), meiotic spindle (GO:0072687)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
G2/M Transition	2
Centrosome maturation	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
FGFR1 mutant receptor activation	1
Signaling by FGFR in disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cytoplasm	3
microtubule organizing center	3
intracellular membraneless organelle	2
cilium	2
spindle pole	2
animal organ development	1
renal system development	1
cardiac ventricle development	1
cardiac septum development	1
artery development	1
cellular process	1
blood vessel development	1
heart development	1
cardiac chamber development	1
anatomical structure development	1
binding	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule cytoskeleton	1
membrane	1
cell periphery	1
centrosome	1
midbody	1
meiotic spindle	1
mitotic spindle	1
intracellular protein-containing complex	1
intracellular anatomical structure	1
cytoskeleton	1
spindle	1

Protein interactions and networks

STRING

1330 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CNTRL	NIN	Q8N4C6	962
CNTRL	CEP170	Q5SW79	943
CNTRL	ODF2	Q5BJF6	930
CNTRL	CEP128	Q6ZU80	842
CNTRL	CEP250	Q9BV73	834
CNTRL	TUBE1	Q9UJT0	819
CNTRL	PCNT	O95613	787
CNTRL	FGFR1	P11362	741
CNTRL	CCDC120	Q96HB5	739
CNTRL	CCDC68	Q9H2F9	667
CNTRL	EVI5	O60447	631
CNTRL	NINL	Q9Y2I6	625
CNTRL	CEP164	Q9UPV0	615
CNTRL	CEP89	Q96ST8	602
CNTRL	RAB3IP	Q96QF0	590

IntAct

46 interactions, top by confidence:

A	B	Type	Score
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.530
PACSIN3	COBLL1	psi-mi:“MI:0914”(association)	0.530
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
HSPD1	CNTRL	psi-mi:“MI:0915”(physical association)	0.400
CNTRL	HSPA5	psi-mi:“MI:0915”(physical association)	0.400
CNTRL	H1-2	psi-mi:“MI:0915”(physical association)	0.400
CNTRL	H1-1	psi-mi:“MI:0915”(physical association)	0.400
CNTRL	H1-5	psi-mi:“MI:0915”(physical association)	0.400
H1-0	CNTRL	psi-mi:“MI:0915”(physical association)	0.400
Cntrl	SNAP29	psi-mi:“MI:0915”(physical association)	0.400
CNTRL	TSC1	psi-mi:“MI:0915”(physical association)	0.370
CNTRL	GAMMAHV.ORF20	psi-mi:“MI:0915”(physical association)	0.370
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
	CCDC22	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
MSN	PFDN1	psi-mi:“MI:0914”(association)	0.350
TUBB4B	TUBA1B	psi-mi:“MI:0914”(association)	0.350
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	EXOC5	psi-mi:“MI:0914”(association)	0.350
SYCE3	TRIM24	psi-mi:“MI:0914”(association)	0.350
FOSL1	YEATS4	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350
	PHF20L1	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	ANKRD28	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
TRAF3IP1	CNTRL	psi-mi:“MI:0915”(physical association)	0.000
DISC1	CNTRL	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (227): CNTRL (Proximity Label-MS), ABRACL (Proximity Label-MS), ANKRD26 (Proximity Label-MS), ANKRD28 (Proximity Label-MS), ARHGAP21 (Proximity Label-MS), CEP131 (Proximity Label-MS), TMEM256 (Proximity Label-MS), CALR (Proximity Label-MS), CAMSAP3 (Proximity Label-MS), CC2D1A (Proximity Label-MS), CCDC138 (Proximity Label-MS), CCDC14 (Proximity Label-MS), CCNB1 (Proximity Label-MS), CEP128 (Proximity Label-MS), CEP152 (Proximity Label-MS)

ESM2 similar proteins: A2AIV8, A2AL36, A2AM05, A3KNA5, A6PWD2, B1AJZ9, B2RZ86, B9V5F5, E9Q1U1, O35550, O35551, P0CAP1, P27628, P55937, Q08DR9, Q0IHN7, Q0VF96, Q15276, Q19UN5, Q29RS0, Q4L180, Q5BIX7, Q5R923, Q6AW69, Q6NRC9, Q6P6L0, Q6PHN1, Q6TFL3, Q70FJ1, Q7YS99, Q7Z7A1, Q7Z7B0, Q861Q8, Q86SQ7, Q8BI22, Q8K3K8, Q8K4T4, Q8N998, Q8R5M4, Q95JI9

Diamond homologs: A2AL36, Q7Z7A1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
HOOK2	up-regulates	CNTRL	binding
CNTRL	“down-regulates activity”	CEP290	binding
CNTRL	down-regulates	Cilium_assembly

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
Cell Cycle	6	7.5×	4e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — CSCC, NPC, THYM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	277
Likely benign	31
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

7213 predictions. Top by Δscore:

Variant	Effect	Δscore
9:121075140:G:GT	donor_gain	1.0000
9:121075140:G:T	donor_gain	1.0000
9:121090401:TTAAG:T	donor_loss	1.0000
9:121090402:TAAG:T	donor_loss	1.0000
9:121090403:AAGG:A	donor_loss	1.0000
9:121090404:AGG:A	donor_loss	1.0000
9:121090405:GGTA:G	donor_loss	1.0000
9:121090406:G:GA	donor_loss	1.0000
9:121090407:T:G	donor_loss	1.0000
9:121096412:T:TA	acceptor_gain	1.0000
9:121096419:CAGC:C	acceptor_loss	1.0000
9:121096420:A:AG	acceptor_gain	1.0000
9:121096420:AG:A	acceptor_loss	1.0000
9:121096421:G:GG	acceptor_gain	1.0000
9:121096421:GC:G	acceptor_gain	1.0000
9:121096421:GCA:G	acceptor_gain	1.0000
9:121096421:GCAA:G	acceptor_gain	1.0000
9:121096421:GCAAA:G	acceptor_gain	1.0000
9:121096562:CGG:C	donor_loss	1.0000
9:121096563:GGT:G	donor_loss	1.0000
9:121096564:G:GG	donor_gain	1.0000
9:121096564:G:T	donor_loss	1.0000
9:121096565:T:G	donor_loss	1.0000
9:121098384:A:AG	acceptor_gain	1.0000
9:121098385:G:GG	acceptor_gain	1.0000
9:121107801:GAA:G	acceptor_gain	1.0000
9:121112444:AAATT:A	acceptor_gain	1.0000
9:121113500:A:AG	acceptor_gain	1.0000
9:121113501:G:GG	acceptor_gain	1.0000
9:121113501:GTAT:G	acceptor_gain	1.0000

AlphaMissense

15442 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:121094994:T:C	L152P	0.998
9:121094928:T:C	L130P	0.997
9:121096463:T:C	L174P	0.997
9:121096469:T:C	L176P	0.997
9:121094934:T:C	L132P	0.996
9:121096479:T:A	N179K	0.994
9:121096479:T:G	N179K	0.994
9:121096535:T:C	L198P	0.994
9:121094994:T:A	L152H	0.993
9:121095010:C:A	N157K	0.993
9:121095010:C:G	N157K	0.993
9:121098488:T:C	F242L	0.993
9:121098490:C:A	F242L	0.993
9:121098490:C:G	F242L	0.993
9:121098495:T:C	L244P	0.993
9:121098563:T:C	F267L	0.993
9:121098565:C:A	F267L	0.993
9:121098565:C:G	F267L	0.993
9:121112528:T:C	F358L	0.993
9:121112530:T:A	F358L	0.993
9:121112530:T:G	F358L	0.993
9:121094944:T:A	N135K	0.992
9:121094944:T:G	N135K	0.992
9:121096551:C:A	N203K	0.992
9:121096551:C:G	N203K	0.992
9:121090365:T:C	L103P	0.991
9:121090371:T:C	L105P	0.991
9:121094994:T:G	L152R	0.991
9:121096463:T:A	L174H	0.991
9:121098432:T:C	L223P	0.991

dbSNP variants (sampled 300 via entrez): RS1000035596 (9:121082766 TCGAGA>T), RS1000042231 (9:121165869 C>G,T), RS1000057480 (9:121111471 C>G,T), RS1000080109 (9:121081741 C>A,T), RS1000140158 (9:121127979 C>A), RS1000143965 (9:121107130 A>G), RS1000188592 (9:121129432 C>G,T), RS1000189364 (9:121133112 A>T), RS1000246529 (9:121175778 A>T), RS1000250022 (9:121099105 C>G), RS1000326931 (9:121167107 C>T), RS1000334332 (9:121092132 GC>G), RS1000392379 (9:121075121 G>A), RS1000421363 (9:121114628 T>C), RS1000426287 (9:121135387 A>C,G)

Disease associations

OMIM: gene MIM:605496 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001538_23	Immune reponse to smallpox (secreted IFN-alpha)	4.000000e-08
GCST007096_53	Pulse pressure	6.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0005763	pulse pressure measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	5
trichostatin A	affects cotreatment, decreases expression	2
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Ozone	affects cotreatment, increases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
epigallocatechin gallate	increases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
NSC668394	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Decitabine	decreases expression, affects reaction	1
Sunitinib	decreases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Cadmium	increases expression, increases abundance	1
Cisplatin	decreases expression, affects cotreatment	1
Cytarabine	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diuron	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery