CDC26

Summary

CDC26 (cell division cycle 26, HGNC:17839) is a protein-coding gene on chromosome 9q32, encoding Anaphase-promoting complex subunit CDC26 (Q8NHZ8). Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. It is a selective cancer dependency (DepMap: 86.9% of cell lines).

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins.

Source: NCBI Gene 246184 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• Cancer dependency (DepMap): dependent in 86.9% of screened cell lines
• MANE Select transcript: NM_139286

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17839
Approved symbol	CDC26
Name	cell division cycle 26
Location	9q32
Locus type	gene with protein product
Status	Approved
Aliases	APC12, ANAPC12
Ensembl gene	ENSG00000176386
Ensembl biotype	protein_coding
OMIM	614533
Entrez	246184

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 36 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000374206, ENST00000490408, ENST00000868464, ENST00000868465, ENST00000868466, ENST00000868467, ENST00000868468, ENST00000868469, ENST00000868470, ENST00000868471, ENST00000868472, ENST00000868473, ENST00000868474, ENST00000868475, ENST00000868476, ENST00000868477, ENST00000868478, ENST00000868479, ENST00000868480, ENST00000914917, ENST00000914918, ENST00000914919, ENST00000914920, ENST00000914921, ENST00000914922, ENST00000914923, ENST00000914924, ENST00000914925, ENST00000914926, ENST00000914927, ENST00000914928, ENST00000914929, ENST00000914930, ENST00000914931, ENST00000954020, ENST00000954021, ENST00000954022

RefSeq mRNA: 1 — MANE Select: NM_139286 NM_139286

CCDS: CCDS6790

Canonical transcript exons

ENST00000374206 — 4 exons

Exon	Start	End
ENSE00001254160	113273329	113273438
ENSE00001254166	113275382	113275572
ENSE00001462777	113266992	113267439
ENSE00003631829	113272427	113272548

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1288 / max 221.5980, expressed in 1782 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102094	12.1288	1782

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.66	gold quality
mucosa of transverse colon	UBERON:0004991	95.11	gold quality
monocyte	CL:0000576	95.04	gold quality
leukocyte	CL:0000738	94.99	gold quality
islet of Langerhans	UBERON:0000006	94.63	gold quality
granulocyte	CL:0000094	94.03	gold quality
apex of heart	UBERON:0002098	94.00	gold quality
lymph node	UBERON:0000029	93.86	gold quality
omental fat pad	UBERON:0010414	93.48	gold quality
heart left ventricle	UBERON:0002084	93.47	gold quality
rectum	UBERON:0001052	93.43	gold quality
right lung	UBERON:0002167	93.39	gold quality
endometrium	UBERON:0001295	93.36	gold quality
left coronary artery	UBERON:0001626	93.05	gold quality
heart	UBERON:0000948	92.86	gold quality
adult mammalian kidney	UBERON:0000082	92.85	gold quality
vermiform appendix	UBERON:0001154	92.79	gold quality
adipose tissue	UBERON:0001013	92.72	gold quality
spleen	UBERON:0002106	92.66	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.61	gold quality
gastrocnemius	UBERON:0001388	92.57	gold quality
muscle of leg	UBERON:0001383	92.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.49	gold quality
lower esophagus	UBERON:0013473	92.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.46	gold quality
skin of abdomen	UBERON:0001416	92.43	gold quality
endocervix	UBERON:0000458	92.42	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.38	gold quality
right lobe of liver	UBERON:0001114	92.36	gold quality
pancreas	UBERON:0001264	92.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting CDC26, 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-6715A-3P	99.83	68.05	1473
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-1288-5P	98.85	67.01	734
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913
HSA-MIR-217-3P	95.67	68.42	1000
HSA-MIR-5586-3P	95.51	67.00	805

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 86.9% of screened cell lines.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdc26	ENSDARG00000077815
mus_musculus	Cdc26	ENSMUSG00000066149
rattus_norvegicus	LOC103692897	ENSRNOG00000070941
rattus_norvegicus	Cdc26	ENSRNOG00000090496

Protein

Protein identifiers

Anaphase-promoting complex subunit CDC26 — Q8NHZ8 (reviewed: Q8NHZ8)

Alternative names: Anaphase-promoting complex subunit 12, Cell division cycle protein 26 homolog

All UniProt accessions (1): Q8NHZ8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of ‘Lys-11’-linked polyubiquitin chains and, to a lower extent, the formation of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains. The APC/C complex catalyzes assembly of branched ‘Lys-11’-/‘Lys-48’-linked branched ubiquitin chains on target proteins. May recruit the E2 ubiquitin-conjugating enzymes to the complex.

Subunit / interactions. V-shaped homodimer. Interacts with CDC16. The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5. Interacts with FBXO43.

Subcellular location. Nucleus.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the CDC26 family.

RefSeq proteins (1): NP_644815* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018860	APC_suCDC26	Family

Pfam: PF10471

UniProt features (8 total): modified residue 2, helix 2, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
3HYM	X-RAY DIFFRACTION	2.8
9GAW	ELECTRON MICROSCOPY	2.9
6Q6G	ELECTRON MICROSCOPY	3.2
6Q6H	ELECTRON MICROSCOPY	3.2
8PKP	ELECTRON MICROSCOPY	3.2
5G05	ELECTRON MICROSCOPY	3.4
8TAU	ELECTRON MICROSCOPY	3.5
4UI9	ELECTRON MICROSCOPY	3.6
6TNT	ELECTRON MICROSCOPY	3.78
6TLJ	ELECTRON MICROSCOPY	3.8
5G04	ELECTRON MICROSCOPY	3.9
6TM5	ELECTRON MICROSCOPY	3.9
9N9R	ELECTRON MICROSCOPY	3.9
9N9S	ELECTRON MICROSCOPY	3.9
8TAR	ELECTRON MICROSCOPY	4
5LCW	ELECTRON MICROSCOPY	4.2
5A31	ELECTRON MICROSCOPY	4.3
5KHU	ELECTRON MICROSCOPY	4.8
5KHR	ELECTRON MICROSCOPY	6.1
5L9T	ELECTRON MICROSCOPY	6.4
5L9U	ELECTRON MICROSCOPY	6.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHZ8-F1	75.13	0.37

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 (2): 42, 82

Function

Pathways and Gene Ontology

Reactome pathways

47 pathways

ID	Pathway
R-HSA-141430	Inactivation of APC/C via direct inhibition of the APC/C complex
R-HSA-174048	APC/C:Cdc20 mediated degradation of Cyclin B
R-HSA-174084	Autodegradation of Cdh1 by Cdh1:APC/C
R-HSA-174154	APC/C:Cdc20 mediated degradation of Securin
R-HSA-174178	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
R-HSA-174184	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-176407	Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
R-HSA-176408	Regulation of APC/C activators between G1/S and early anaphase
R-HSA-176409	APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-176412	Phosphorylation of the APC/C
R-HSA-179409	APC-Cdc20 mediated degradation of Nek2A
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2559582	Senescence-Associated Secretory Phenotype (SASP)
R-HSA-68867	Assembly of the pre-replicative complex
R-HSA-69017	CDK-mediated phosphorylation and removal of Cdc6
R-HSA-8853884	Transcriptional Regulation by VENTX
R-HSA-9687136	Aberrant regulation of mitotic exit in cancer due to RB1 defects
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-141405	Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease
R-HSA-168256	Immune System
R-HSA-174143	APC/C-mediated degradation of cell cycle proteins
R-HSA-176814	Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-179419	APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
R-HSA-212436	Generic Transcription Pathway
R-HSA-2262752	Cellular responses to stress
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-2559583	Cellular Senescence

MSigDB gene sets: 166 (showing top): REACTOME_DNA_REPLICATION, REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1, REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_CYCLIN_B, REACTOME_CONVERSION_FROM_APC_C_CDC20_TO_APC_C_CDH1_IN_LATE_ANAPHASE, REACTOME_PHOSPHORYLATION_OF_THE_APC_C, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_ANAPHASE_PROMOTING_COMPLEX_DEPENDENT_CATABOLIC_PROCESS, REACTOME_APC_CDC20_MEDIATED_DEGRADATION_OF_NEK2A, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_PROTEIN_K11_LINKED_UBIQUITINATION, GOBP_REGULATION_OF_CELL_CYCLE, WTGAAAT_UNKNOWN

GO Biological Process (8): regulation of mitotic cell cycle (GO:0007346), anaphase-promoting complex-dependent catabolic process (GO:0031145), cell division (GO:0051301), regulation of meiotic cell cycle (GO:0051445), protein K48-linked ubiquitination (GO:0070936), protein K11-linked ubiquitination (GO:0070979), protein branched polyubiquitination (GO:0141198), protein ubiquitination (GO:0016567)

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

GO Cellular Component (4): nucleoplasm (GO:0005654), anaphase-promoting complex (GO:0005680), cytosol (GO:0005829), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
APC/C-mediated degradation of cell cycle proteins	4
APC/C:Cdc20 mediated degradation of mitotic proteins	2
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	2
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	2
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	1
Mitotic Anaphase	1
Cellular Senescence	1
DNA Replication Pre-Initiation	1
Switching of origins to a post-replicative state	1
Generic Transcription Pathway	1
Aberrant regulation of mitotic cell cycle due to RB1 defects	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Regulation of APC/C activators between G1/S and early anaphase	1
Mitotic Spindle Checkpoint	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein polyubiquitination	3
regulation of cell cycle	2
cellular anatomical structure	2
mitotic cell cycle	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
cellular process	1
meiotic cell cycle	1
regulation of reproductive process	1
protein modification by small protein conjugation	1
binding	1
nuclear lumen	1
nuclear ubiquitin ligase complex	1
cullin-RING ubiquitin ligase complex	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDC26	CDC16	Q13042	990
CDC26	CDC23	Q9UJX2	973
CDC26	ANAPC13	Q9BS18	965
CDC26	ANAPC10	Q9UM13	959
CDC26	ANAPC11	Q9NYG5	923
CDC26	ANAPC16	Q96DE5	906
CDC26	CDC27	P30260	873
CDC26	ANAPC15	P60006	852
CDC26	ANAPC5	Q9UJX4	814
CDC26	CDC20	Q12834	703
CDC26	ANAPC1	Q9H1A4	587
CDC26	CDC6	Q99741	564
CDC26	KRT23	Q9C075	462
CDC26	MAGEA6	P43360	437
CDC26	ANAPC7	Q9UJX3	432

IntAct

112 interactions, top by confidence:

A	B	Type	Score
CDC20	BUB1B	psi-mi:“MI:0914”(association)	0.980
CDC16	CDC26	psi-mi:“MI:0915”(physical association)	0.940
CDC26	CDC16	psi-mi:“MI:0915”(physical association)	0.940
CDC16	CDC26	psi-mi:“MI:0914”(association)	0.940
ANAPC2	CDC27	psi-mi:“MI:0915”(physical association)	0.910
ANAPC4	CDC27	psi-mi:“MI:0914”(association)	0.860
CDC16	BUB1B	psi-mi:“MI:0914”(association)	0.790
CDC23	BUB1B	psi-mi:“MI:0914”(association)	0.790
ANAPC16	BUB1B	psi-mi:“MI:0914”(association)	0.730
ANAPC2	BUB1B	psi-mi:“MI:0914”(association)	0.730
CDC26	CDC16	psi-mi:“MI:0407”(direct interaction)	0.650
CDC26	CDC16	psi-mi:“MI:0915”(physical association)	0.650
ANAPC13	CDC27	psi-mi:“MI:0914”(association)	0.640

BioGRID (146): CDC26 (Affinity Capture-MS), CDC26 (Affinity Capture-Western), CDC26 (Two-hybrid), CDC26 (Affinity Capture-MS), CDC26 (Affinity Capture-Western), CDC26 (Reconstituted Complex), CDC26 (Affinity Capture-Western), CDC26 (Protein-peptide), CDC26 (Affinity Capture-MS), CDC26 (Affinity Capture-MS), CDC26 (Co-purification), CDC26 (Affinity Capture-Western), ANAPC7 (Co-fractionation), CDC26 (Co-fractionation), CDC26 (Co-fractionation)

ESM2 similar proteins: A0A1B0GTZ2, A0A1L8H579, A0A1L8HCK2, A1CMP1, A1DL98, A5PN52, A6R5Z3, A6S6B0, A6ZR60, A7F9B8, A7S3I2, B0BK70, B6KG46, B6LI37, G5EG14, O13916, O59835, P20290, P33716, P34287, P34399, P38302, P40063, P57076, P93779, Q06616, Q0IHJ3, Q0ULD0, Q18012, Q1DI23, Q1L8Y6, Q3SZT7, Q4R8E8, Q54TR8, Q5I0J4, Q5RAQ7, Q5U3Z0, Q64152, Q68EK9, Q6PI97

Diamond homologs: Q3SZT7, Q5RAQ7, Q68EK9, Q6YDN7, Q8NHZ8, Q99JP4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDC26	“form complex”	APC-c	binding
LATS1	“up-regulates activity”	CDC26	phosphorylation
LATS2	“up-regulates activity”	CDC26	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	14	148.0×	3e-27
Inactivation of APC/C via direct inhibition of the APC/C complex	14	121.1×	5e-26
APC-Cdc20 mediated degradation of Nek2A	15	105.7×	2e-26
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	15	105.7×	2e-26
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase	12	103.8×	3e-21
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	15	102.0×	3e-26
Aberrant regulation of mitotic exit in cancer due to RB1 defects	11	95.2×	6e-19
Phosphorylation of the APC/C	10	90.6×	5e-17

GO biological processes:

GO term	Partners	Fold	FDR
regulation of meiotic cell cycle	13	148.6×	5e-24
protein branched polyubiquitination	11	138.3×	5e-20
anaphase-promoting complex-dependent catabolic process	13	136.2×	1e-23
protein K11-linked ubiquitination	12	70.2×	7e-18
regulation of mitotic cell cycle	14	50.3×	1e-18
mitotic spindle assembly checkpoint signaling	6	50.3×	1e-07
protein K48-linked ubiquitination	11	27.7×	1e-11
cell division	22	15.2×	2e-18

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1509 predictions. Top by Δscore:

Variant	Effect	Δscore
9:113256274:GATG:G	donor_gain	1.0000
9:113257107:T:A	acceptor_gain	1.0000
9:113257111:A:AG	acceptor_gain	1.0000
9:113257112:G:GG	acceptor_gain	1.0000
9:113257112:GC:G	acceptor_gain	1.0000
9:113257112:GCC:G	acceptor_gain	1.0000
9:113257112:GCCT:G	acceptor_gain	1.0000
9:113257112:GCCTA:G	acceptor_gain	1.0000
9:113257184:AGGT:A	donor_loss	1.0000
9:113257185:GGTG:G	donor_loss	1.0000
9:113257187:TGAG:T	donor_loss	1.0000
9:113258687:T:G	acceptor_gain	1.0000
9:113272421:TCATA:T	donor_loss	1.0000
9:113272422:CATA:C	donor_loss	1.0000
9:113272423:ATAC:A	donor_loss	1.0000
9:113272424:TAC:T	donor_loss	1.0000
9:113272425:A:C	donor_loss	1.0000
9:113272549:C:CC	acceptor_gain	1.0000
9:113273324:CTCA:C	donor_loss	1.0000
9:113273325:TCAC:T	donor_loss	1.0000
9:113273326:CA:C	donor_loss	1.0000
9:113273327:A:AC	donor_gain	1.0000
9:113273327:A:AG	donor_loss	1.0000
9:113273328:C:CC	donor_gain	1.0000
9:113273435:TAAT:T	acceptor_gain	1.0000
9:113275464:T:TA	donor_gain	1.0000
9:113275465:C:A	donor_gain	1.0000
9:113256109:A:AG	acceptor_gain	0.9900
9:113256111:A:AG	acceptor_gain	0.9900
9:113256112:A:G	acceptor_gain	0.9900

AlphaMissense

558 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:113267330:C:G	R64P	0.999
9:113272451:A:C	F19L	0.999
9:113272451:A:T	F19L	0.999
9:113272453:A:G	F19L	0.999
9:113272476:A:G	L11P	0.999
9:113272452:A:C	F19C	0.998
9:113272452:A:G	F19S	0.998
9:113272464:T:A	D15V	0.998
9:113272464:T:C	D15G	0.998
9:113272465:C:G	D15H	0.998
9:113272486:G:T	R8S	0.998
9:113272491:G:T	P6Q	0.998
9:113272492:G:A	P6S	0.998
9:113272499:T:A	R3S	0.998
9:113272499:T:G	R3S	0.998
9:113272500:C:G	R3T	0.998
9:113272464:T:G	D15A	0.997
9:113272482:A:G	L9P	0.997
9:113272486:G:C	R8G	0.997
9:113272488:G:A	T7I	0.997
9:113267331:G:C	R64G	0.996
9:113272492:G:T	P6T	0.996
9:113267327:A:T	I65N	0.995
9:113272463:G:C	D15E	0.995
9:113272463:G:T	D15E	0.995
9:113272465:C:A	D15Y	0.995
9:113272480:C:T	E10K	0.995
9:113272491:G:C	P6R	0.995
9:113272497:C:G	R4P	0.995
9:113272500:C:A	R3I	0.995

dbSNP variants (sampled 300 via entrez): RS1000019573 (9:113270344 T>C), RS1000147463 (9:113276459 T>C), RS1000480157 (9:113276111 C>T), RS1000746389 (9:113270846 A>G,T), RS1000842150 (9:113275549 T>C), RS1001024197 (9:113271816 G>A), RS1001399155 (9:113275666 C>G,T), RS1001730509 (9:113276006 T>G), RS1001776018 (9:113270307 G>A,C), RS1001806473 (9:113275354 C>G,T), RS1001962837 (9:113268454 C>A,T), RS1002076519 (9:113276236 C>G,T), RS1002092558 (9:113275006 C>T), RS1002111333 (9:113268756 C>A,T), RS1002680442 (9:113275122 G>A,T)

Disease associations

OMIM: gene MIM:614533 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases abundance, affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
ochratoxin A	decreases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
jinfukang	decreases expression, increases reaction	1
7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one	decreases expression	1
picoxystrobin	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Cadmium	decreases expression, affects reaction	1
Caffeine	decreases phosphorylation	1
Chelating Agents	affects binding, decreases expression	1
Cisplatin	decreases expression, increases reaction	1
Citrinin	affects cotreatment, decreases expression	1
Copper	affects binding, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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