TFDP2

Summary

TFDP2 (transcription factor Dp-2, HGNC:11751) is a protein-coding gene on chromosome 3q23, encoding Transcription factor Dp-2 (Q14188). Can stimulate E2F-dependent transcription.

The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7029 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 61 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001178139

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11751
Approved symbol	TFDP2
Name	transcription factor Dp-2
Location	3q23
Locus type	gene with protein product
Status	Approved
Aliases	Dp-2
Ensembl gene	ENSG00000114126
Ensembl biotype	protein_coding
OMIM	602160
Entrez	7029

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 20 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000464782, ENST00000467072, ENST00000467634, ENST00000467667, ENST00000471095, ENST00000474279, ENST00000475734, ENST00000476617, ENST00000477292, ENST00000478006, ENST00000479040, ENST00000486111, ENST00000487734, ENST00000488107, ENST00000489671, ENST00000491667, ENST00000492919, ENST00000493204, ENST00000494358, ENST00000494656, ENST00000495095, ENST00000495310, ENST00000497579, ENST00000499676, ENST00000874024, ENST00000874025, ENST00000931342, ENST00000944546

RefSeq mRNA: 14 — MANE Select: NM_001178139 NM_001178138, NM_001178139, NM_001178140, NM_001178141, NM_001178142, NM_001375756, NM_001375773, NM_001375774, NM_001375775, NM_001375776, NM_001375778, NM_001375779, NM_001375780, NM_006286

CCDS: CCDS43159, CCDS54647, CCDS54648, CCDS54649, CCDS54650, CCDS93401

Canonical transcript exons

ENST00000489671 — 13 exons

Exon	Start	End
ENSE00001829733	142149183	142149544
ENSE00003351069	141944428	141952696
ENSE00003494551	142005441	142005544
ENSE00003618195	142093061	142093127
ENSE00003680631	142101735	142101841
ENSE00003760788	141952911	141953016
ENSE00003762738	141963812	141963963
ENSE00003762781	141974048	141974191
ENSE00003764619	141995020	141995141
ENSE00003767374	141993538	141993585
ENSE00003769425	141978520	141978682
ENSE00003774745	141970073	141970141
ENSE00003775216	141959674	141959840

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 97.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.6334 / max 828.2257, expressed in 1807 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44828	13.9347	1674
44836	8.9812	1707
44837	5.9877	1635
44827	1.3024	471
44832	1.0160	553
44835	0.4494	253
44830	0.3094	45
44829	0.2961	88
44833	0.1822	65
44834	0.0938	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.16	gold quality
left testis	UBERON:0004533	95.78	gold quality
right testis	UBERON:0004534	95.73	gold quality
testis	UBERON:0000473	94.90	gold quality
adrenal tissue	UBERON:0018303	94.39	gold quality
ventricular zone	UBERON:0003053	93.61	gold quality
bone marrow cell	CL:0002092	93.08	gold quality
bone marrow	UBERON:0002371	92.76	gold quality
thymus	UBERON:0002370	92.70	gold quality
ganglionic eminence	UBERON:0004023	92.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.46	gold quality
colonic epithelium	UBERON:0000397	92.29	gold quality
tendon	UBERON:0000043	92.26	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.99	gold quality
sperm	CL:0000019	91.86	gold quality
male germ cell	CL:0000015	91.47	gold quality
embryo	UBERON:0000922	90.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.56	gold quality
trabecular bone tissue	UBERON:0002483	90.02	gold quality
adult organism	UBERON:0007023	89.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.47	gold quality
gall bladder	UBERON:0002110	89.08	gold quality
sural nerve	UBERON:0015488	88.57	gold quality
placenta	UBERON:0001987	88.09	gold quality
muscle of leg	UBERON:0001383	88.08	gold quality
renal medulla	UBERON:0000362	87.56	gold quality
gastrocnemius	UBERON:0001388	87.51	gold quality
stromal cell of endometrium	CL:0002255	87.40	gold quality
myocardium	UBERON:0002349	87.39	gold quality
heart left ventricle	UBERON:0002084	87.10	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	507.41
E-GEOD-93593	yes	482.82
E-CURD-112	yes	39.20
E-MTAB-8271	yes	10.51
E-ANND-3	yes	10.03
E-CURD-122	yes	5.59
E-GEOD-75367	no	704.65
E-HCAD-6	no	30.10

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

8 targets.

Target	Regulation
ADAM2
HMOX1	Activation
HRK
MIR122
MYC	Unknown
PCNA	Activation
RFC3	Activation
TFDP2

Upstream regulators (CollecTRI, top): AHR, TFDP2

miRNA regulators (miRDB)

329 targeting TFDP2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819

Literature-anchored findings (GeneRIF, showing 3)

• DP2 is expressed by the bronchial epithelium, and its activation drives epithelial differentiation, suggesting that in addition to its well-characterized role in inflammatory cell migration, DP2 might contribute to airway remodeling in asthmatic patients. (PMID:25312757)
• GAB2, GSPT1, TFDP2 and ZFPM1 are four new susceptibility loci for testicular germ cell tumor. (PMID:26503584)
• This study demonstrates translation from an internal methionine. (PMID:8755520)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfdp2	ENSDARG00000042835
mus_musculus	Tfdp2	ENSMUSG00000032411
rattus_norvegicus	Tfdp2	ENSRNOG00000011241
drosophila_melanogaster	Dp	FBGN0011763
caenorhabditis_elegans		WBGENE00001061

Paralogs (2): TFDP3 (ENSG00000183434), TFDP1 (ENSG00000198176)

Protein

Protein identifiers

Transcription factor Dp-2 — Q14188 (reviewed: Q14188)

Alternative names: E2F dimerization partner 2

All UniProt accessions (11): Q14188, C9J461, C9J5D5, C9J872, C9J977, C9JCY5, C9JNB6, C9JTZ9, F8WAY9, H7C5C2, R4GN09

UniProt curated annotations — full annotation on UniProt →

Function. Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5’-TTTC[CG]CGC-3’, found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters.

Subunit / interactions. Component of the DRTF1/E2F transcription factor complex. Forms heterodimers with E2F family members. The complex can interact with hypophosphorylated retinoblastoma protein RB1 and related proteins (RBL1 and RBL2) that inhibit the E2F transactivation domain. During the cell cycle, RB becomes phosphorylated in mid-to-late G1 phase, detaches from the DRTF1/E2F complex rendering E2F transcriptionally active. Viral oncoproteins, notably E1A, T-antigen and HPV E7, are capable of sequestering RB protein, thus releasing the active complex. Interacts with GMCL. 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. The complex TFDP2:E2F1 interacts with CEBPA; the interaction prevents CEBPA binding to target genes promoters and represses its transcriptional activity.

Subcellular location. Nucleus.

Tissue specificity. High levels in heart and skeletal muscle. Also found in placenta, kidney, brain, lung and liver. The presence as well as the abundance of the different transcripts appear to vary significantly in different tissues and cell lines.

Post-translational modifications. Ser-24 is probably phosphorylated by CDK2.

Similarity. Belongs to the E2F/DP family.

Isoforms (8)

UniProt ID	Names	Canonical?
Q14188-1	Alpha, 49 kDa	yes
Q14188-2	Beta, 43 kDa
Q14188-3	Gamma
Q14188-4	Delta, 48 kDa
Q14188-5	Epsilon
Q14188-6	6
Q14188-7	7
Q14188-8	8

RefSeq proteins (14): NP_001171609, NP_001171610, NP_001171611, NP_001171612, NP_001171613, NP_001362685, NP_001362702, NP_001362703, NP_001362704, NP_001362705, NP_001362707, NP_001362708, NP_001362709, NP_006277 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003316	E2F_WHTH_DNA-bd_dom	Domain
IPR014889	Transc_factor_DP_C	Domain
IPR015648	Transcrpt_fac_DP	Family
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR037241	E2F-DP_heterodim	Homologous_superfamily
IPR038168	TF_DP_C_sf	Homologous_superfamily

Pfam: PF02319, PF08781

UniProt features (31 total): splice variant 7, region of interest 5, helix 4, modified residue 3, compositionally biased region 2, sequence variant 2, strand 2, short sequence motif 2, initiator methionine 1, chain 1, DNA-binding region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1CF7	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14188-F1	66.53	0.41

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 (3): 2, 24, 122

Function

Pathways and Gene Ontology

Reactome pathways

48 pathways

ID	Pathway
R-HSA-111448	Activation of NOXA and translocation to mitochondria
R-HSA-113501	Inhibition of replication initiation of damaged DNA by RB1/E2F1
R-HSA-1362277	Transcription of E2F targets under negative control by DREAM complex
R-HSA-1362300	Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
R-HSA-139915	Activation of PUMA and translocation to mitochondria
R-HSA-1538133	G0 and Early G1
R-HSA-1912408	Pre-NOTCH Transcription and Translation
R-HSA-2173796	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-2559585	Oncogene Induced Senescence
R-HSA-6804114	TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-69202	Cyclin E associated events during G1/S transition
R-HSA-69205	G1/S-Specific Transcription
R-HSA-69231	Cyclin D associated events in G1
R-HSA-69656	Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8953750	Transcriptional Regulation by E2F6
R-HSA-9616222	Transcriptional regulation of granulopoiesis
R-HSA-9661069	Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
R-HSA-109581	Apoptosis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-113510	E2F mediated regulation of DNA replication
R-HSA-114452	Activation of BH3-only proteins
R-HSA-1266738	Developmental Biology
R-HSA-157118	Signaling by NOTCH
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease
R-HSA-170834	Signaling by TGF-beta Receptor Complex
R-HSA-1912422	Pre-NOTCH Expression and Processing
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 384 (showing top): REACTOME_INHIBITION_OF_REPLICATION_INITIATION_OF_DAMAGED_DNA_BY_RB1_E2F1, REACTOME_SIGNALING_BY_NOTCH, MULLIGHAN_NPM1_SIGNATURE_3_UP, MORF_FLT1, REACTOME_G1_S_SPECIFIC_TRANSCRIPTION, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, HNF3ALPHA_Q6, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_MSH3, CHIARETTI_T_ALL_REFRACTORY_TO_THERAPY, HOFMANN_CELL_LYMPHOMA_UP, MORF_BRCA1, IVANOVA_HEMATOPOIESIS_MATURE_CELL, TAL1ALPHAE47_01, MORF_ESR1

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of cell cycle (GO:0051726), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), transcription factor binding (GO:0008134), protein domain specific binding (GO:0019904), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitotic spindle (GO:0072686), RNA polymerase II transcription regulator complex (GO:0090575), transcription regulator complex (GO:0005667)

Reactome top-level categories

Rollup of top-16 pathways:

Category	Pathways
Activation of BH3-only proteins	2
G0 and Early G1	2
Cellular Senescence	2
G1/S Transition	2
E2F mediated regulation of DNA replication	1
Mitotic G1 phase and G1/S transition	1
Pre-NOTCH Expression and Processing	1
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer	1
TP53 Regulates Transcription of Cell Cycle Genes	1
G1 Phase	1
S Phase	1
Generic Transcription Pathway	1
Developmental Biology	1
Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects	1
Programmed Cell Death	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
protein binding	2
cellular anatomical structure	2
negative regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
cell cycle	1
regulation of cellular process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chromatin	1
DNA-binding transcription factor activity	1
nucleic acid binding	1
transcription cis-regulatory region binding	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
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
spindle	1
transcription regulator complex	1
nuclear protein-containing complex	1
protein-containing complex	1

Protein interactions and networks

STRING

1146 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFDP2	E2F1	Q01094	901
TFDP2	E2F5	Q15329	841
TFDP2	E2F4	Q16254	743
TFDP2	E2F3	O00716	641
TFDP2	CCNE2	O96020	535
TFDP2	CCNE1	P24864	534
TFDP2	CCND1	P24385	509
TFDP2	CDK6	Q00534	506
TFDP2	TOPBP1	Q92547	485
TFDP2	E2F2	Q14209	477
TFDP2	CHEK1	O14757	453
TFDP2	E2F7	Q96AV8	445
TFDP2	E2F8	A0AVK6	444
TFDP2	CDK7	P50613	424
TFDP2	TMEM60	Q9H2L4	412

IntAct

57 interactions, top by confidence:

A	B	Type	Score
E2F1	RB1	psi-mi:“MI:0914”(association)	0.980
CDK2	CCNE2	psi-mi:“MI:0914”(association)	0.940
TFDP2	E2F6	psi-mi:“MI:0915”(physical association)	0.910
E2F6	TFDP2	psi-mi:“MI:0915”(physical association)	0.910
CDKN1A	CCNE2	psi-mi:“MI:0914”(association)	0.890
RYBP	BMI1	psi-mi:“MI:0914”(association)	0.850
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
E2F4	TFDP2	psi-mi:“MI:0407”(direct interaction)	0.770
E2F4	RB1	psi-mi:“MI:0915”(physical association)	0.760
RB1	TFDP2	psi-mi:“MI:0915”(physical association)	0.740
E2F6	WDR5	psi-mi:“MI:0914”(association)	0.730
L3MBTL2	E2F6	psi-mi:“MI:0914”(association)	0.730
RNF2	E2F6	psi-mi:“MI:0914”(association)	0.730
PCGF6	CBX4	psi-mi:“MI:0914”(association)	0.640
COMMD8	VPS26C	psi-mi:“MI:0914”(association)	0.640
PCGF6	E2F6	psi-mi:“MI:0914”(association)	0.640
CCNA2	GMNN	psi-mi:“MI:0914”(association)	0.640
LIN37	MYBL1	psi-mi:“MI:0914”(association)	0.640
E7	TFDP2	psi-mi:“MI:0915”(physical association)	0.560
LIN9	MYBL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (109): TFDP2 (Two-hybrid), TFDP2 (Affinity Capture-MS), E2F4 (Affinity Capture-MS), E2F5 (Affinity Capture-MS), RB1 (Affinity Capture-MS), E2F2 (Affinity Capture-MS), E2F3 (Affinity Capture-MS), E2F1 (Affinity Capture-MS), TFDP2 (Two-hybrid), TFDP2 (Affinity Capture-Western), TFDP2 (Affinity Capture-Western), TFDP2 (Affinity Capture-Western), TFDP2 (Two-hybrid), E2F2 (Affinity Capture-MS), TFDP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8H0H2, A0JN51, A0JNE3, A4IFD2, A4QP16, D4A4D7, F8VPJ6, O13186, O15060, O46567, O57415, O73590, P13056, P59759, P79269, P79686, Q14188, Q1LVF3, Q2T9I9, Q3UH06, Q505F1, Q5HZN1, Q5R7F2, Q5RCZ5, Q5ZIX8, Q6DJS0, Q6IQ32, Q6IRB8, Q6P4L9, Q6P4R8, Q6PIJ4, Q6S7F2, Q6XLJ0, Q6ZPK0, Q7ZXG4, Q80VX4, Q8AYC1, Q8AYC2, Q8C0C0, Q8C966

Diamond homologs: Q08639, Q14186, Q14188, Q17QZ4, Q22703, Q24318, Q5H9I0, Q64163, Q9FNY2, Q9FNY3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 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
Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1	8	133.6×	3e-14
G0 and Early G1	9	109.8×	3e-15
Transcription of E2F targets under negative control by DREAM complex	7	105.7×	1e-11
Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)	6	105.7×	4e-10
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest	5	99.1×	2e-08
Cyclin E associated events during G1/S transition	12	95.2×	2e-19
Cyclin A:Cdk2-associated events at S phase entry	12	88.5×	3e-19
G1/S-Specific Transcription	8	79.3×	3e-12

GO biological processes:

GO term	Partners	Fold	FDR
G1/S transition of mitotic cell cycle	8	41.1×	5e-09
regulation of mitotic cell cycle	6	37.0×	1e-06
chromatin remodeling	8	15.0×	4e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	39
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2671581	Single allele	Pathogenic

SpliceAI

1314 predictions. Top by Δscore:

Variant	Effect	Δscore
3:141959670:ATAC:A	donor_loss	1.0000
3:141959671:TA:T	donor_loss	1.0000
3:141959673:C:CT	donor_loss	1.0000
3:141959836:CAAAC:C	acceptor_gain	1.0000
3:141959837:AAACC:A	acceptor_loss	1.0000
3:141959838:AACCT:A	acceptor_loss	1.0000
3:141959839:ACCT:A	acceptor_loss	1.0000
3:141959840:CCTG:C	acceptor_loss	1.0000
3:141959841:CTG:C	acceptor_loss	1.0000
3:141959842:T:A	acceptor_loss	1.0000
3:141959847:C:CT	acceptor_gain	1.0000
3:141959848:A:T	acceptor_gain	1.0000
3:141963808:TCACT:T	donor_loss	1.0000
3:141963809:CACTT:C	donor_loss	1.0000
3:141963810:A:AC	donor_gain	1.0000
3:141963810:ACTTG:A	donor_loss	1.0000
3:141963811:C:CA	donor_gain	1.0000
3:141963959:ATTTG:A	acceptor_gain	1.0000
3:141963960:TTTG:T	acceptor_gain	1.0000
3:141963961:TTG:T	acceptor_gain	1.0000
3:141963961:TTGC:T	acceptor_loss	1.0000
3:141963962:TG:T	acceptor_gain	1.0000
3:141963963:GCTG:G	acceptor_loss	1.0000
3:141963964:C:CC	acceptor_gain	1.0000
3:141963964:CT:C	acceptor_loss	1.0000
3:141963969:A:AC	acceptor_gain	1.0000
3:141974044:TTACC:T	donor_loss	1.0000
3:141974045:TA:T	donor_loss	1.0000
3:141974046:A:AC	donor_gain	1.0000
3:141974046:ACCT:A	donor_gain	1.0000

AlphaMissense

2919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:141959781:A:G	L315P	1.000
3:141959807:A:C	F306L	1.000
3:141959807:A:T	F306L	1.000
3:141959809:A:G	F306L	1.000
3:141963831:A:G	C289R	1.000
3:141963944:A:G	L251P	1.000
3:141970083:A:G	L241P	1.000
3:141970092:A:G	L238P	1.000
3:141974052:A:G	L220P	1.000
3:141974082:G:T	P210H	1.000
3:141974083:G:A	P210S	1.000
3:141974085:A:G	L209P	1.000
3:141974085:A:T	L209Q	1.000
3:141974088:C:A	G208V	1.000
3:141974088:C:T	G208D	1.000
3:141974089:C:A	G208C	1.000
3:141974089:C:G	G208R	1.000
3:141974093:C:A	W206C	1.000
3:141974093:C:G	W206C	1.000
3:141974094:C:A	W206L	1.000
3:141974094:C:G	W206S	1.000
3:141974095:A:G	W206R	1.000
3:141974095:A:T	W206R	1.000
3:141974100:A:C	I204S	1.000
3:141974100:A:G	I204T	1.000
3:141974100:A:T	I204N	1.000
3:141974106:T:A	K202I	1.000
3:141974114:C:A	K199N	1.000
3:141974114:C:G	K199N	1.000
3:141974115:T:A	K199M	1.000

dbSNP variants (sampled 300 via entrez): RS1000005048 (3:142108023 T>C), RS1000011291 (3:142006935 C>T), RS1000022269 (3:141961852 C>T), RS1000056051 (3:142013723 G>A), RS1000084554 (3:142057476 T>C), RS1000106562 (3:142013413 G>A,T), RS1000108370 (3:142101032 T>C), RS1000109347 (3:142059200 T>C), RS1000111515 (3:142131382 C>A,T), RS1000116966 (3:142005643 A>G), RS1000135469 (3:142094971 C>T), RS1000136610 (3:142149821 C>T), RS1000170318 (3:141986552 C>T), RS1000183284 (3:142125836 T>C), RS1000208934 (3:141956086 G>C)

Disease associations

OMIM: gene MIM:602160 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST000649_6	Chronic kidney disease	3.000000e-11
GCST003246_1	Testicular germ cell tumor	2.000000e-09
GCST003372_13	Glomerular filtration rate (creatinine)	9.000000e-14
GCST003401_21	Glomerular filtration rate in non diabetics (creatinine)	2.000000e-14
GCST003790_26	Glomerular filtration rate	4.000000e-08
GCST004292_12	Glomerular filtration rate (creatinine)	5.000000e-11
GCST004602_137	Mean corpuscular volume	1.000000e-12
GCST004630_127	Mean corpuscular hemoglobin	6.000000e-09
GCST004635_6	Testicular germ cell tumor	5.000000e-07
GCST006871_1	Total hippocampal volume	3.000000e-09
GCST007344_112	Estimated glomerular filtration rate	3.000000e-17
GCST007344_15	Estimated glomerular filtration rate	1.000000e-08
GCST007344_95	Estimated glomerular filtration rate	4.000000e-10
GCST007876_12	Estimated glomerular filtration rate	1.000000e-20
GCST008058_163	Estimated glomerular filtration rate	1.000000e-44
GCST008059_123	Estimated glomerular filtration rate	2.000000e-40
GCST008162_18	Hip circumference	3.000000e-06
GCST008747_146	Estimated glomerular filtration rate	2.000000e-20
GCST008747_95	Estimated glomerular filtration rate	4.000000e-26
GCST008971_68	Urate levels	8.000000e-08
GCST008972_1	Urate levels	5.000000e-10
GCST010226_1	Cortical surface area (global PC1)	4.000000e-08
GCST010566_3	Benign childhood epilepsy with centro-temporal spikes	5.000000e-06
GCST010699_19	Brain morphology (min-P)	6.000000e-10
GCST010701_77	Cortical surface area (MOSTest)	4.000000e-09
GCST010702_94	Subcortical volume (MOSTest)	1.000000e-08
GCST010703_324	Brain morphology (MOSTest)	1.000000e-10
GCST011986_2	Congenital left-sided heart lesions	5.000000e-08
GCST90002390_168	Mean corpuscular hemoglobin	8.000000e-20
GCST90002392_314	Mean corpuscular volume	9.000000e-23

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0005035	hippocampal volume
EFO:0004531	urate measurement
EFO:0008381	total cortical area measurement
EFO:0004346	neuroimaging measurement
EFO:0005091	monocyte count
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105986 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.75	IC50	1800	nM	CHEMBL4082745

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
5-[[6-chloro-5-(4-phenylphenyl)-1H-benzimidazol-2-yl]oxy]-2-methylbenzoic acid	1471632: Binding affinity to DP2 receptor (unknown origin)	ic50	1.8000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation	3
Tretinoin	decreases expression	3
Valproic Acid	affects expression, decreases expression	3
trichostatin A	decreases expression, affects cotreatment	2
cobaltous chloride	decreases expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Nickel	decreases expression	2
Ozone	increases abundance, affects cotreatment, increases oxidation, affects expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
N(6)-(delta(2)-isopentenyl)adenine	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
testosterone undecanoate	decreases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
4-hydroxy-2-nonenal	decreases expression	1
aflatoxin B2	decreases methylation	1
cupric chloride	affects expression	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
cotylenin A	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4026676	Binding	Binding affinity to DP2 receptor (unknown origin)	Hit-to-Lead Optimization and Discovery of 5-((5-([1,1’-Biphenyl]-4-yl)-6-chloro-1H-benzo[d]imidazol-2-yl)oxy)-2-methylbenzoic Acid (MK-3903): A Novel Class of Benzimidazole-Based Activators of AMP-Activated Protein Kinase. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3J7	Abcam HEK293T TFDP2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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