CENPK

Summary

CENPK (centromere protein K, HGNC:29479) is a protein-coding gene on chromosome 5q12.3, encoding Centromere protein K (Q9BS16). Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. It is a common-essential gene (DepMap: required in 99.4% of cancer cell lines).

CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).

Source: NCBI Gene 64105 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 38 total
• Cancer dependency (DepMap): dependent in 99.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_022145

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29479
Approved symbol	CENPK
Name	centromere protein K
Location	5q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FKSG14, SOLT, CENP-K
Ensembl gene	ENSG00000123219
Ensembl biotype	protein_coding
OMIM	611502
Entrez	64105

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000242872, ENST00000396679, ENST00000502997, ENST00000504508, ENST00000505960, ENST00000506282, ENST00000508311, ENST00000508421, ENST00000509397, ENST00000510354, ENST00000510693, ENST00000510768, ENST00000511841, ENST00000513951, ENST00000514814, ENST00000515497, ENST00000515873, ENST00000893575, ENST00000893576, ENST00000893577, ENST00000893578, ENST00000893579, ENST00000929810, ENST00000929811, ENST00000929812, ENST00000929813, ENST00000929814, ENST00000929815, ENST00000929816

RefSeq mRNA: 5 — MANE Select: NM_022145 NM_001267038, NM_001349367, NM_001349368, NM_001349369, NM_022145

CCDS: CCDS3984, CCDS87299

Canonical transcript exons

ENST00000396679 — 11 exons

Exon	Start	End
ENSE00001250043	65551564	65551636
ENSE00001250053	65552493	65552549
ENSE00001525909	65517766	65518633
ENSE00001525912	65554797	65554946
ENSE00001525913	65561463	65561564
ENSE00002050120	65563098	65563168
ENSE00003489266	65521475	65521528
ENSE00003526521	65542802	65542848
ENSE00003567009	65528919	65529017
ENSE00003606218	65529117	65529199
ENSE00003663415	65528452	65528578

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 95.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4236 / max 930.7114, expressed in 1566 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61951	18.1640	1559
203573	0.1356	57
61950	0.1240	49

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.71	gold quality
ventricular zone	UBERON:0003053	95.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.35	gold quality
secondary oocyte	CL:0000655	93.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.96	gold quality
embryo	UBERON:0000922	91.36	gold quality
ganglionic eminence	UBERON:0004023	91.36	gold quality
thymus	UBERON:0002370	86.52	gold quality
rectum	UBERON:0001052	86.20	gold quality
vermiform appendix	UBERON:0001154	84.39	gold quality
bone marrow	UBERON:0002371	83.34	gold quality
stromal cell of endometrium	CL:0002255	81.49	gold quality
right testis	UBERON:0004534	80.98	gold quality
testis	UBERON:0000473	80.74	gold quality
trabecular bone tissue	UBERON:0002483	80.65	gold quality
epithelium of nasopharynx	UBERON:0001951	79.90	gold quality
nasopharynx	UBERON:0001728	79.89	gold quality
left testis	UBERON:0004533	79.87	gold quality
lymph node	UBERON:0000029	79.22	gold quality
adrenal tissue	UBERON:0018303	79.19	gold quality
granulocyte	CL:0000094	79.08	gold quality
mucosa of transverse colon	UBERON:0004991	79.06	gold quality
bone marrow cell	CL:0002092	78.68	gold quality
caecum	UBERON:0001153	78.59	gold quality
esophagus mucosa	UBERON:0002469	78.23	gold quality
right uterine tube	UBERON:0001302	77.45	gold quality
ileal mucosa	UBERON:0000331	77.00	gold quality
tonsil	UBERON:0002372	75.59	gold quality
smooth muscle tissue	UBERON:0001135	75.57	gold quality
calcaneal tendon	UBERON:0003701	75.24	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	197.57
E-GEOD-125970	yes	21.14
E-MTAB-6678	yes	9.20
E-ANND-3	yes	7.75
E-MTAB-10553	yes	7.04
E-MTAB-10596	no	277.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting CENPK, 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-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-551B-5P	99.96	71.28	3493
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-144-3P	99.94	73.98	2698
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-4307	99.82	70.45	3374

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• the vertebrate KNL1 counterpart is essential for chromosome segregation and is required to localize a subset of outer kinetochore proteins. (PMID:18045986)
• Overexpression of centromere protein K (CENPK) gene in Differentiated Thyroid Carcinoma promote cell Proliferation and Migration. (PMID:33904381)
• N(6)-methyladenosine modification of CENPK mRNA by ZC3H13 promotes cervical cancer stemness and chemoresistance. (PMID:35418160)
• Centromeric protein K (CENPK) promotes gastric cancer proliferation and migration via interacting with XRCC5. (PMID:35715658)
• Lentivirus-mediated short hairpin RNA interference of CENPK inhibits growth of colorectal cancer cells with overexpression of Cullin 4A. (PMID:36312839)
• CENPK orchestrates ovarian cancer progression via GOLPH3-Mediated activation of mTOR signaling. (PMID:38670220)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cenpk	ENSDARG00000039616
mus_musculus	Cenpk	ENSMUSG00000021714
rattus_norvegicus	Cenpk	ENSRNOG00000039740

Protein

Protein identifiers

Centromere protein K — Q9BS16 (reviewed: Q9BS16)

Alternative names: Interphase centromere complex protein 37, Protein AF-5alpha, p33

All UniProt accessions (8): D6R984, D6RAX0, D6RBN6, D6RC76, D6RHD3, D6RJF0, Q9BS16, H0Y9K8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with KNL1 to recruit the NDC80 complex to the outer kinetochore.

Subunit / interactions. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. Interacts directly with CENPH.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.

Tissue specificity. Detected in several fetal organs with highest levels in fetal liver. In adults, it is weakly expressed in lung and placenta.

Disease relevance. Chromosomal aberrations involving CENPK are a cause of acute leukemias. Translocation t(5;11)(q12;q23) with KMT2A/MLL1.

Similarity. Belongs to the CENP-K/MCM22 family.

RefSeq proteins (5): NP_001253967, NP_001336296, NP_001336297, NP_001336298, NP_071428* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020993	Centromere_CenpK	Family

Pfam: PF11802

UniProt features (22 total): helix 6, sequence conflict 5, strand 5, coiled-coil region 2, chain 1, region of interest 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
7PB4	X-RAY DIFFRACTION	2.49
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7PKN	ELECTRON MICROSCOPY	3.2
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
7R5V	ELECTRON MICROSCOPY	4.55
7QOO	ELECTRON MICROSCOPY	4.6
7YYH	ELECTRON MICROSCOPY	8.9
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BS16-F1	81.57	0.38

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): 96–97 (breakpoint for translocation to form kmt2a/mll1-cenpk oncogene)

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-69618	Mitotic Spindle Checkpoint
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 236 (showing top): GOBP_CHROMOSOME_ORGANIZATION, KONG_E2F3_TARGETS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_ORGANELLE_FISSION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ORGANELLE_ASSEMBLY, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_MITOTIC_CELL_CYCLE, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, FUJII_YBX1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS

GO Biological Process (3): mitotic sister chromatid segregation (GO:0000070), chromosome segregation (GO:0007059), kinetochore assembly (GO:0051382)

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

GO Cellular Component (7): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cell Cycle	3
Mitotic Prometaphase	2
M Phase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
Nucleosome assembly	1
Mitotic Spindle Checkpoint	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1
Cell Cycle Checkpoints	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular membraneless organelle	2
sister chromatid segregation	1
mitotic nuclear division	1
mitotic cell cycle process	1
cell cycle process	1
kinetochore organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
binding	1
kinetochore	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
chromosomal region	1
condensed chromosome, centromeric region	1
supramolecular complex	1

Protein interactions and networks

STRING

1226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPK	CENPH	Q9H3R5	999
CENPK	CENPI	Q92674	999
CENPK	CENPM	Q9NSP4	998
CENPK	CENPL	Q8N0S6	993
CENPK	CENPN	Q96H22	988
CENPK	CENPO	Q9BU64	983
CENPK	CENPQ	Q7L2Z9	964
CENPK	CENPA	P49450	960
CENPK	CENPU	Q71F23	955
CENPK	CENPP	Q6IPU0	950
CENPK	CENPS	Q8N2Z9	943
CENPK	ITGB3BP	Q13352	941
CENPK	CENPT	Q96BT3	929
CENPK	CENPC	Q03188	917
CENPK	CENPX	A8MT69	905

IntAct

48 interactions, top by confidence:

A	B	Type	Score
CENPK	CENPH	psi-mi:“MI:0915”(physical association)	0.870
CENPH	CENPK	psi-mi:“MI:0915”(physical association)	0.870
CENPH	NDC80	psi-mi:“MI:0914”(association)	0.800
CENPK	CENPI	psi-mi:“MI:0915”(physical association)	0.670
	CENPK	psi-mi:“MI:0915”(physical association)	0.560
CENPK	MRFAP1L1	psi-mi:“MI:0915”(physical association)	0.560
MRFAP1L1	CENPK	psi-mi:“MI:0915”(physical association)	0.560
RTN4IP1	CENPK	psi-mi:“MI:0915”(physical association)	0.560
PEX14	CENPK	psi-mi:“MI:0915”(physical association)	0.560
CENPK	WASHC3	psi-mi:“MI:0915”(physical association)	0.560
CENPH	ITGB3BP	psi-mi:“MI:0914”(association)	0.530
CENPK	DHRS12	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
CENPK	NOP2	psi-mi:“MI:0915”(physical association)	0.400
CENPK	PCBD2	psi-mi:“MI:0915”(physical association)	0.370
HSPB1	CENPK	psi-mi:“MI:0915”(physical association)	0.370
KDM5C	CSNK2A1	psi-mi:“MI:0914”(association)	0.350
Cenpi	CENPK	psi-mi:“MI:0914”(association)	0.350
Cenph	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPO	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPQ	CENPX	psi-mi:“MI:0914”(association)	0.350
ITGB3BP	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
CENPU	CENPX	psi-mi:“MI:0914”(association)	0.350

BioGRID (92): CENPK (Two-hybrid), CENPH (Two-hybrid), MRFAP1L1 (Two-hybrid), CENPK (Two-hybrid), ASS1 (Co-fractionation), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPK (Affinity Capture-Western), CENPK (Negative Genetic)

ESM2 similar proteins: A0A571BF63, A2BF66, A6QQY4, B0BN28, D3ZWE7, E2QXH7, F6RRD7, O02799, O60566, O70481, O95905, P52630, Q05B18, Q0V7M7, Q13257, Q28IH8, Q2KIY6, Q2TB18, Q3B7T8, Q3U1T9, Q3UB74, Q4R8B9, Q5JTW2, Q5M7C8, Q5PQQ9, Q5RA37, Q5RCY5, Q5SQP1, Q5XGL1, Q5XIZ9, Q6IQY5, Q7T0S7, Q86VD1, Q86VS3, Q86X24, Q8C5W4, Q8CDK3, Q8IWV7, Q8IXW5, Q8N7B1

Diamond homologs: Q1T7C1, Q5XGL1, Q9BS16, Q9ESN5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CENPK	“form complex”	“CCAN complex”	binding
CENPK	“up-regulates activity”	SOX6	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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
Nucleosome assembly	8	165.5×	1e-14
Amplification of signal from the kinetochores	9	77.0×	9e-14
Chromosome Maintenance	8	73.6×	3e-12
Mitotic Spindle Checkpoint	9	62.1×	5e-13
Deposition of new CENPA-containing nucleosomes at the centromere	8	55.2×	2e-11
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	9	45.6×	5e-12
Mitotic Metaphase and Anaphase	9	37.9×	2e-11
Mitotic Anaphase	9	37.9×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
chromosome segregation	10	62.0×	7e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1743 predictions. Top by Δscore:

Variant	Effect	Δscore
5:65528577:TT:T	acceptor_gain	1.0000
5:65528579:C:CC	acceptor_gain	1.0000
5:65528587:T:TC	acceptor_gain	1.0000
5:65529022:CGACA:C	acceptor_gain	1.0000
5:65529026:A:AC	acceptor_gain	1.0000
5:65529026:A:C	acceptor_gain	1.0000
5:65529112:CAAA:C	donor_loss	1.0000
5:65529113:AAACC:A	donor_loss	1.0000
5:65529114:AACCT:A	donor_loss	1.0000
5:65529115:A:C	donor_loss	1.0000
5:65529116:C:CT	donor_loss	1.0000
5:65529129:T:TA	donor_gain	1.0000
5:65529200:C:CC	acceptor_gain	1.0000
5:65542845:ATTG:A	acceptor_gain	1.0000
5:65542846:TTG:T	acceptor_gain	1.0000
5:65542847:TG:T	acceptor_gain	1.0000
5:65542849:C:CC	acceptor_gain	1.0000
5:65551562:A:AC	donor_gain	1.0000
5:65551563:C:CC	donor_gain	1.0000
5:65551566:T:A	donor_gain	1.0000
5:65552556:T:C	acceptor_gain	1.0000
5:65552556:T:TC	acceptor_gain	1.0000
5:65527294:G:C	donor_gain	0.9900
5:65528445:AACTT:A	donor_loss	0.9900
5:65528446:ACTTA:A	donor_loss	0.9900
5:65528447:CTT:C	donor_loss	0.9900
5:65528448:TTA:T	donor_loss	0.9900
5:65528449:TACCT:T	donor_loss	0.9900
5:65528450:ACC:A	donor_loss	0.9900
5:65528451:C:CT	donor_loss	0.9900

AlphaMissense

1786 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:65518484:G:C	F267L	0.991
5:65518484:G:T	F267L	0.991
5:65518486:A:G	F267L	0.991
5:65518530:G:T	A252D	0.989
5:65518542:C:G	R248P	0.988
5:65518570:A:G	W239R	0.988
5:65518570:A:T	W239R	0.988
5:65518494:A:G	L264S	0.983
5:65518551:A:G	L245P	0.983
5:65518545:A:G	L247P	0.978
5:65518548:A:C	L246R	0.978
5:65518548:A:T	L246Q	0.978
5:65518548:A:G	L246P	0.973
5:65518568:C:A	W239C	0.970
5:65518568:C:G	W239C	0.970
5:65518523:T:A	R254S	0.967
5:65518523:T:G	R254S	0.967
5:65518629:A:G	L219P	0.961
5:65518531:C:G	A252P	0.958
5:65518543:G:T	R248S	0.958
5:65518500:A:T	I262K	0.957
5:65528498:A:G	L184P	0.957
5:65518496:T:A	R263S	0.956
5:65518496:T:G	R263S	0.956
5:65518500:A:G	I262T	0.955
5:65518520:A:C	H255Q	0.950
5:65518520:A:T	H255Q	0.950
5:65518521:T:C	H255R	0.950
5:65518503:C:G	R261P	0.949
5:65518485:A:G	F267S	0.948

dbSNP variants (sampled 300 via entrez): RS1000008039 (5:65543873 T>C), RS1000045031 (5:65541946 G>C), RS1000045914 (5:65532005 T>C), RS1000112355 (5:65496026 G>A), RS1000189265 (5:65553849 A>G), RS1000211472 (5:65512939 A>C), RS1000244297 (5:65513182 A>C), RS1000305237 (5:65524912 AC>A), RS1000320716 (5:65559974 G>A,T), RS1000368909 (5:65519292 T>C), RS1000397261 (5:65531745 G>A), RS1000438290 (5:65498220 T>A,C), RS1000450375 (5:65517981 G>A,C), RS1000480182 (5:65560483 A>G), RS1000529670 (5:65548273 G>A,C)

Disease associations

OMIM: gene MIM:611502 | 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

4 associations (top):

Study	Trait	p-value
GCST006479_81	Diverticular disease	1.000000e-06
GCST010701_121	Cortical surface area (MOSTest)	6.000000e-11
GCST010702_62	Subcortical volume (MOSTest)	6.000000e-12
GCST010703_77	Brain morphology (MOSTest)	2.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease
EFO:0004346	neuroimaging 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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	5
Cyclosporine	decreases expression	3
(+)-JQ1 compound	decreases expression	2
Arsenic	increases expression, decreases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	decreases expression, increases expression	2
Cisplatin	decreases expression, increases expression	2
Estradiol	increases expression	2
Testosterone	affects cotreatment, decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
SP2509	affects binding, decreases reaction	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium chromate(VI)	decreases expression	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
pyrachlostrobin	decreases expression	1
incobotulinumtoxinA	decreases expression	1
picoxystrobin	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Dasatinib	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	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