CSTF3

Summary

CSTF3 (cleavage stimulation factor subunit 3, HGNC:2485) is a protein-coding gene on chromosome 11p13, encoding Cleavage stimulation factor subunit 3 (Q12996). One of the multiple factors required for polyadenylation and 3’-end cleavage of mammalian pre-mRNAs. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).

The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3’ end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 1479 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 47 total
• Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_001326

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2485
Approved symbol	CSTF3
Name	cleavage stimulation factor subunit 3
Location	11p13
Locus type	gene with protein product
Status	Approved
Aliases	CstF-77
Ensembl gene	ENSG00000176102
Ensembl biotype	protein_coding
OMIM	600367
Entrez	1479

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000323959, ENST00000431742, ENST00000438862, ENST00000524556, ENST00000524775, ENST00000524827, ENST00000526480, ENST00000528865, ENST00000909242, ENST00000911852, ENST00000911853, ENST00000954368

RefSeq mRNA: 3 — MANE Select: NM_001326 NM_001033505, NM_001033506, NM_001326

CCDS: CCDS44563, CCDS44564, CCDS7883

Canonical transcript exons

ENST00000323959 — 21 exons

Exon	Start	End
ENSE00001285038	33085713	33085773
ENSE00001285043	33085895	33085989
ENSE00001285048	33086988	33087141
ENSE00001285051	33090532	33090727
ENSE00001285058	33092271	33092340
ENSE00001285066	33096306	33096408
ENSE00001285072	33096835	33096978
ENSE00001285079	33098690	33098764
ENSE00001285084	33099034	33099150
ENSE00001285090	33099608	33099717
ENSE00001285098	33102177	33102339
ENSE00001285104	33103107	33103184
ENSE00001285112	33105567	33105693
ENSE00001285118	33105883	33105917
ENSE00001285122	33105998	33106064
ENSE00001285129	33107903	33108000
ENSE00001285134	33108386	33108418
ENSE00001432751	33084584	33085289
ENSE00002157535	33161299	33161480
ENSE00003608092	33141885	33141986
ENSE00003688079	33141667	33141762

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 95.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.0781 / max 907.6547, expressed in 1814 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119196	27.0483	1810
119197	2.1620	1229
119195	1.6141	896
119194	0.2351	97
119193	0.0104	5
119192	0.0082	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	95.88	gold quality
cortical plate	UBERON:0005343	95.80	gold quality
pituitary gland	UBERON:0000007	95.18	gold quality
tendon of biceps brachii	UBERON:0008188	95.12	gold quality
ganglionic eminence	UBERON:0004023	94.98	gold quality
corpus epididymis	UBERON:0004359	94.70	gold quality
ventricular zone	UBERON:0003053	93.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.90	gold quality
cerebellar hemisphere	UBERON:0002245	92.75	gold quality
cerebellar cortex	UBERON:0002129	92.59	gold quality
right uterine tube	UBERON:0001302	92.40	gold quality
embryo	UBERON:0000922	91.96	gold quality
buccal mucosa cell	CL:0002336	91.91	gold quality
right testis	UBERON:0004534	91.71	gold quality
sperm	CL:0000019	91.61	gold quality
right frontal lobe	UBERON:0002810	91.56	gold quality
left testis	UBERON:0004533	91.50	gold quality
tendon	UBERON:0000043	91.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.26	gold quality
male germ cell	CL:0000015	91.24	gold quality
hair follicle	UBERON:0002073	91.12	gold quality
cerebellum	UBERON:0002037	91.07	gold quality
cingulate cortex	UBERON:0003027	90.99	gold quality
lower esophagus mucosa	UBERON:0035834	90.95	gold quality
anterior cingulate cortex	UBERON:0009835	90.89	gold quality
left lobe of thyroid gland	UBERON:0001120	90.86	gold quality
nucleus accumbens	UBERON:0001882	90.75	gold quality
testis	UBERON:0000473	90.66	gold quality
hypothalamus	UBERON:0001898	90.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting CSTF3, 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-4282	99.99	75.36	6408
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-1827	99.63	68.57	3265

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• chimeric human CstF-77/Drosophila suppressor of forked proteins rescue suppressor of forked mutant lethality and mrna 3’ end processing in Drosophila (PMID:12149458)
• The Hinge domain is necessary for CstF-64 interaction with CstF-77 and consequent nuclear localization. (PMID:19887456)
• nuclear accumulation of CstF-64 depends on binding to CstF-77 not symplekin; interaction between CstF-64/CstF-64Tau and CstF-77 are important for maintenance of nuclear levels of CstF complex components and intracellular localization, stability, function (PMID:21119002)
• Thus, the conserved intronic pA of the CstF-77 gene may function as a sensor for cellular C/P and splicing activities, controlling the homeostasis of CstF-77 and C/P activity and impacting cell proliferation and differentiation. (PMID:23874216)
• Results from a study on gene variability markers in early-stage human embryos shows that CSTF3 is a putative variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• Data show that the recruitment of CstF subunit CstF-50 to CstF via interaction with cleavage stimulation factor, 3’ pre-RNA, subunit 3, 77kDa protein (CstF-77) and establish that the hexameric assembly of CstF. (PMID:29186539)
• Reverse genetics and nuclear magnetic resonance studies of recombinant CstF-64 (RRM-Hinge) and CstF-77 (monkeytail-carboxy-terminal domain) indicate that the last 30 amino acids of CstF-77 increases the stability of the RRM, thus altering the affinity of the complex for RNA. These results provide new insights into the mechanism by which CstF regulates the location of the RNA cleavage site during Cleavage/polyadenylation. (PMID:30257008)
• CSTF3 contributes to platinum resistance in ovarian cancer through alternative polyadenylation of lncRNA NEAT1 and generating the short isoform NEAT1_1. (PMID:38898019)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	cstf3	ENSDARG00000018904
mus_musculus	Cstf3	ENSMUSG00000027176
rattus_norvegicus	Cstf3	ENSRNOG00000012089
drosophila_melanogaster	su(f)	FBGN0003559
caenorhabditis_elegans		WBGENE00006307

Protein

Protein identifiers

Cleavage stimulation factor subunit 3 — Q12996 (reviewed: Q12996)

Alternative names: CF-1 77 kDa subunit, Cleavage stimulation factor 77 kDa subunit

All UniProt accessions (5): E9PJ06, E9PLP8, E9PNK2, Q12996, H0YE74

UniProt curated annotations — full annotation on UniProt →

Function. One of the multiple factors required for polyadenylation and 3’-end cleavage of mammalian pre-mRNAs.

Subunit / interactions. Homodimer. The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit). CSTF3 directly interacts with CSTF1 and CSTF2. Interacts with FIP1L1.

Subcellular location. Nucleus.

Isoforms (3)

UniProt ID	Names	Canonical?
Q12996-1	1	yes
Q12996-2	2
Q12996-3	3

RefSeq proteins (3): NP_001028677, NP_001028678, NP_001317* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003107	HAT	Repeat
IPR008847	Suf	Domain
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR045243	Rna14-like	Family

Pfam: PF05843

UniProt features (40 total): helix 18, repeat 9, splice variant 4, strand 3, modified residue 2, initiator methionine 1, chain 1, region of interest 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6B3X	X-RAY DIFFRACTION	2.3
7ZY4	X-RAY DIFFRACTION	2.55
6URO	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12996-F1	86.85	0.69

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): 2, 691

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-72187	mRNA 3’-end processing
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-77595	Processing of Intronless Pre-mRNAs
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA

MSigDB gene sets: 231 (showing top): RNGTGGGC_UNKNOWN, GGGNRMNNYCAT_UNKNOWN, PAL_PRMT5_TARGETS_UP, TTTGTAG_MIR520D, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_16, BILD_SRC_ONCOGENIC_SIGNATURE, AAAYRNCTG_UNKNOWN, CREB_Q4, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_REGULATION_OF_MRNA_3_END_PROCESSING, MORF_PPP5C

GO Biological Process (5): RNA 3’-end processing (GO:0031123), co-transcriptional mRNA 3’-end processing, cleavage and polyadenylation pathway (GO:0180010), RNA processing (GO:0006396), mRNA processing (GO:0006397), mRNA 3’-end processing (GO:0031124)

GO Molecular Function (3): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), mRNA cleavage stimulating factor complex (GO:0005848)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Processing of Capped Intron-Containing Pre-mRNA	1
RNA Polymerase II Transcription	1
Processing of Capped Intronless Pre-mRNA	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
mRNA 3’-end processing	1
co-transcriptional RNA 3’-end processing, cleavage and polyadenylation pathway	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
mRNA metabolic process	1
mRNA processing	1
RNA 3’-end processing	1
nucleic acid binding	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
mRNA cleavage factor complex	1

Protein interactions and networks

STRING

3414 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSTF3	CSTF1	Q05048	999
CSTF3	CSTF2	P33240	999
CSTF3	CPSF1	Q10570	998
CSTF3	SYMPK	Q92797	960
CSTF3	CPSF3	Q9UKF6	944
CSTF3	DEPDC7	Q96QD5	928
CSTF3	PAPOLA	P51003	915
CSTF3	WDR33	Q9C0J8	915
CSTF3	KIAA1549L	Q6ZVL6	909
CSTF3	CPSF2	Q9P2I0	904
CSTF3	CPSF4	O95639	903
CSTF3	PCF11	O94913	897
CSTF3	EIF3M	Q7L2H7	816
CSTF3	CPSF7	Q8N684	796
CSTF3	PABPN1	Q86U42	763

IntAct

80 interactions, top by confidence:

A	B	Type	Score
HSPA8	GAK	psi-mi:“MI:0914”(association)	0.760
CDC73	CSTF2	psi-mi:“MI:0914”(association)	0.580
CDC73	CSTF2	psi-mi:“MI:0915”(physical association)	0.580
SYMPK	CPSF4	psi-mi:“MI:0914”(association)	0.530
CCNL2	ZBTB43	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
CSTF2T	CRTAP	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
CDC73	CPSF4	psi-mi:“MI:0914”(association)	0.500
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
NPM1	CPSF4	psi-mi:“MI:0914”(association)	0.480
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
DAPK3	CSTF3	psi-mi:“MI:0915”(physical association)	0.400
DST	CSTF3	psi-mi:“MI:0915”(physical association)	0.400
MYO6	CSTF3	psi-mi:“MI:0915”(physical association)	0.400
CPSF3	P4HA2	psi-mi:“MI:0914”(association)	0.350
CEP170P1	PCYT1A	psi-mi:“MI:0914”(association)	0.350
Myh9	GOSR1	psi-mi:“MI:0914”(association)	0.350
FIP1L1	WWP2	psi-mi:“MI:0914”(association)	0.350
RNPS1	CSNK2A1	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
NS1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350
DLD	IRS4	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (184): CSTF3 (Affinity Capture-Western), CSTF3 (Affinity Capture-MS), CSTF3 (Affinity Capture-MS), CSTF3 (Affinity Capture-MS), CSTF3 (Affinity Capture-RNA), CSTF3 (Affinity Capture-MS), CSTF2T (Co-fractionation), CSTF3 (Co-fractionation), CSTF3 (Co-fractionation), CSTF3 (Co-fractionation), CSTF3 (Co-fractionation), PABPC1 (Co-fractionation), PABPC3 (Co-fractionation), PAPOLB (Co-fractionation), CSTF3 (Affinity Capture-RNA)

ESM2 similar proteins: A1A4R8, B0BNG0, B3DNN5, E7F590, F8VPK0, O89079, P45432, P49754, P62944, P63009, P63010, Q12996, Q15006, Q28G25, Q2KJ25, Q4QR29, Q5E993, Q5F3K0, Q5KU39, Q5M7J9, Q5R4J9, Q5R882, Q5RBI3, Q5RDW9, Q60445, Q62018, Q6DEU9, Q6DFB8, Q6INS3, Q6N069, Q6PD62, Q6PGP7, Q6TGY8, Q80UM3, Q8AVU9, Q8BGZ4, Q8TAM2, Q8VD72, Q8VY89, Q8VZM1

Diamond homologs: O14233, P0CO12, P0CO13, Q12996, Q2UKV8, Q4IR09, Q4PCV8, Q4WXX4, Q5B3I8, Q5RDW9, Q6C8L8, Q759Y6, Q7S1Y0, Q8GUP1, Q99LI7, P25991, F4J8K6, Q54XP4, P0CO10, P0CO11, P17886, P63154, P63155, P87312, Q12309, Q4PB37, Q4WT84, Q527H0, Q5AED6, Q5BDX1, Q5K654, Q6BSP7, Q6C186, Q6CJK2, Q750X3, Q7SGD2, Q9BZJ0, Q9HF03, Q5AM44, Q6BJD8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CSTF3	“form complex”	“CSTF complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 96 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
Processing of Intronless Pre-mRNAs	7	51.2×	2e-08
mRNA 3’-end processing	9	22.7×	4e-08
RNA Polymerase II Transcription Termination	8	22.5×	3e-07
Collagen biosynthesis and modifying enzymes	5	10.9×	6e-03
mRNA Polyadenylation	8	9.0×	3e-04
Dengue Virus-Host Interactions	13	7.6×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
mRNA 3’-end processing	5	31.9×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2817 predictions. Top by Δscore:

Variant	Effect	Δscore
11:33085285:AACAG:A	acceptor_gain	1.0000
11:33085286:ACAG:A	acceptor_gain	1.0000
11:33085287:CAG:C	acceptor_gain	1.0000
11:33085287:CAGC:C	acceptor_gain	1.0000
11:33085288:AG:A	acceptor_gain	1.0000
11:33085289:GCTA:G	acceptor_loss	1.0000
11:33085290:C:CC	acceptor_gain	1.0000
11:33085291:T:A	acceptor_loss	1.0000
11:33085292:A:C	acceptor_gain	1.0000
11:33085293:T:C	acceptor_gain	1.0000
11:33085293:T:TC	acceptor_gain	1.0000
11:33085299:C:CT	acceptor_gain	1.0000
11:33085300:A:T	acceptor_gain	1.0000
11:33086986:A:AC	donor_gain	1.0000
11:33086987:C:CC	donor_gain	1.0000
11:33086987:CGTG:C	donor_gain	1.0000
11:33087138:CATC:C	acceptor_gain	1.0000
11:33087140:TC:T	acceptor_gain	1.0000
11:33087141:CC:C	acceptor_gain	1.0000
11:33087142:C:CC	acceptor_gain	1.0000
11:33087142:CTG:C	acceptor_loss	1.0000
11:33087143:T:C	acceptor_loss	1.0000
11:33092349:T:TC	acceptor_gain	1.0000
11:33096304:A:AC	donor_gain	1.0000
11:33096305:C:CC	donor_gain	1.0000
11:33096832:TA:T	donor_loss	1.0000
11:33096833:ACCT:A	donor_loss	1.0000
11:33096834:C:CT	donor_loss	1.0000
11:33096974:TATAC:T	acceptor_gain	1.0000
11:33096975:ATAC:A	acceptor_gain	1.0000

AlphaMissense

4727 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:33090569:G:T	P535H	1.000
11:33090592:T:A	R527S	1.000
11:33090592:T:G	R527S	1.000
11:33090650:C:G	R508P	1.000
11:33090652:T:A	R507S	1.000
11:33090652:T:G	R507S	1.000
11:33090653:C:G	R507T	1.000
11:33090673:A:C	S500R	1.000
11:33090673:A:T	S500R	1.000
11:33090675:T:G	S500R	1.000
11:33090686:C:A	G496V	1.000
11:33090686:C:T	G496D	1.000
11:33090687:C:G	G496R	1.000
11:33090697:T:A	E492D	1.000
11:33090697:T:G	E492D	1.000
11:33090699:C:T	E492K	1.000
11:33090700:A:C	F491L	1.000
11:33090700:A:T	F491L	1.000
11:33090701:A:G	F491S	1.000
11:33090702:A:G	F491L	1.000
11:33090707:A:G	L489P	1.000
11:33090709:A:C	F488L	1.000
11:33090709:A:T	F488L	1.000
11:33090711:A:G	F488L	1.000
11:33090720:A:G	W485R	1.000
11:33090720:A:T	W485R	1.000
11:33092304:A:G	L471S	1.000
11:33092310:C:G	R469P	1.000
11:33092312:T:A	E468D	1.000
11:33092312:T:G	E468D	1.000

dbSNP variants (sampled 300 via entrez): RS1000034650 (11:33116607 G>A), RS1000108214 (11:33109379 T>C), RS1000115825 (11:33129754 T>G), RS1000206325 (11:33124145 G>A), RS1000237741 (11:33136056 C>T), RS1000248264 (11:33087952 C>G), RS1000268411 (11:33123633 A>G), RS1000338648 (11:33161950 A>T), RS1000402253 (11:33131090 G>A,T), RS1000466980 (11:33092894 G>A), RS1000473666 (11:33142950 G>A,C,T), RS1000554191 (11:33155312 C>T), RS1000621025 (11:33163309 G>T), RS1000654872 (11:33125553 C>G), RS1000765548 (11:33118394 T>C)

Disease associations

OMIM: gene MIM:600367 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002324_8	Anger	2.000000e-06
GCST003810_3	Non-response to citalopram or escitalopram and depression	8.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003015	aggressive behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	3
Benzo(a)pyrene	affects methylation, increases expression	2
Carbamazepine	affects expression	2
Tobacco Smoke Pollution	increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cadmium sulfate	increases expression	1
beta-methylcholine	affects expression	1
bisphenol S	decreases methylation	1
NSC 689534	affects binding, decreases expression	1
Oxaliplatin	increases expression	1
Troglitazone	decreases expression	1
Air Pollutants, Occupational	affects expression	1
Ethanol	increases abundance, affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diclofenac	affects expression	1
Fluorouracil	affects response to substance, increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Indomethacin	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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