DCP2

gene
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Also known as NUDT20

Summary

DCP2 (decapping mRNA 2, HGNC:24452) is a protein-coding gene on chromosome 5q22.2, encoding m7GpppN-mRNA hydrolase (Q8IU60). Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs. It is a selective cancer dependency (DepMap: 10.9% of cell lines).

The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5’ end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Source: NCBI Gene 167227 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 79 total
  • Cancer dependency (DepMap): dependent in 10.9% of screened cell lines
  • MANE Select transcript: NM_152624

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24452
Approved symbolDCP2
Namedecapping mRNA 2
Location5q22.2
Locus typegene with protein product
StatusApproved
AliasesNUDT20
Ensembl geneENSG00000172795
Ensembl biotypeprotein_coding
OMIM609844
Entrez167227

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 3 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000389063, ENST00000502635, ENST00000504961, ENST00000508359, ENST00000510046, ENST00000512751, ENST00000513585, ENST00000515408, ENST00000674880

RefSeq mRNA: 2 — MANE Select: NM_152624 NM_001242377, NM_152624

CCDS: CCDS34210, CCDS56377

Canonical transcript exons

ENST00000389063 — 11 exons

ExonStartEnd
ENSE00001082534113007938113008042
ENSE00001261172112976798112976986
ENSE00001504831113013321113022195
ENSE00001504832113010756113010807
ENSE00001504834112985835112985986
ENSE00003469422112992672112992770
ENSE00003567570113001357113001469
ENSE00003599316112992121112992248
ENSE00003641482113003942113004077
ENSE00003663289113001084113001236
ENSE00003670909113001567113001674

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.7292 / max 446.5258, expressed in 1816 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
5801733.85991809
580163.02831331
580150.5297275
580180.3113159

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002398.03gold quality
secondary oocyteCL:000065597.52gold quality
trabecular bone tissueUBERON:000248395.11gold quality
adrenal tissueUBERON:001830395.10gold quality
spermCL:000001993.97gold quality
parietal pleuraUBERON:000240093.93gold quality
placentaUBERON:000198793.85gold quality
pleuraUBERON:000097793.80gold quality
monocyteCL:000057693.42gold quality
mononuclear cellCL:000084293.40gold quality
bone marrowUBERON:000237193.35gold quality
visceral pleuraUBERON:000240193.35gold quality
leukocyteCL:000073893.16gold quality
epithelium of nasopharynxUBERON:000195193.06gold quality
choroid plexus epitheliumUBERON:000391192.99gold quality
endothelial cellCL:000011592.89gold quality
cartilage tissueUBERON:000241892.86gold quality
calcaneal tendonUBERON:000370192.81gold quality
germinal epithelium of ovaryUBERON:000130492.68gold quality
bloodUBERON:000017892.38gold quality
male germ cellCL:000001591.74gold quality
tibiaUBERON:000097991.25gold quality
amniotic fluidUBERON:000017391.03gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.01gold quality
palpebral conjunctivaUBERON:000181290.86gold quality
mucosa of paranasal sinusUBERON:000503090.66gold quality
skin of hipUBERON:000155490.47gold quality
superficial temporal arteryUBERON:000161490.47gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.24gold quality
hair follicleUBERON:000207389.83gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

272 targeting DCP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-3924100.0072.092394
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-8485100.0077.574731
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4533100.0069.482758
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-5692A100.0074.406850
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-186-5P99.9970.833707
HSA-MIR-366299.9973.825684
HSA-MIR-1213699.9872.815713
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-569699.9872.364487
HSA-MIR-499A-5P99.9870.791323

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 15)

  • an mRNA decapping enzyme demonstrated to contain intrinsic decapping activity (PMID:12218187)
  • These data suggest that a human decapping complex containing decapping enzymes hDcp1a and hDcp2 may be recruited to mRNAs containing premature termination codons by the hUpf proteins. (PMID:12417715)
  • Human Dcp2 is a catalytically active mRNA decapping enzyme that localizes to the cytoplasm (PMID:12486012)
  • LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci (PMID:12515382)
  • hDcp2 can specifically bind to and can regulate the stability of a subset of mRNAs (PMID:18039849)
  • These data support the novel notion of the association between Ro52 with hDCP2 protein in cytoplasmic p-bodies, playing a role in mRNA metabolism in response to cellular stimulation. (PMID:18361920)
  • Like Dcp2, Nudt16 also regulates the stability of a subset of mRNAs including a member of the motin family of proteins involved in angiogenesis. (PMID:21070968)
  • PNRC2 acts in synergy with Dcp1a to stimulate the decapping activity of Dcp2 by bridging the interaction between Dcp1a and Dcp2. (PMID:23085078)
  • Data show that Y14 interacts directly with the decapping factor Dcp2 and the 5’ cap structure of mRNAs via different but overlapping domains. (PMID:23115303)
  • The data indicates that DCP2 activation by DCP1 occurs preferentially on the EDC4 scaffold, which may serve to couple DCP2 activation by DCP1 with 5’-to-3’ mRNA degradation by XRN1 in human cells. (PMID:24510189)
  • Human Dcp2 levels and activity are controlled by a competition between decapping complex assembly and Dcp2 degradation. (PMID:25870104)
  • Human MARF1 is an endoribonuclease that interacts with the DCP1:DCP2 decapping complex and degrades target mRNAs. (PMID:30364987)
  • Intrinsically disordered regions of tristetraprolin and DCP2 directly interact to mediate decay of ARE-mRNA. (PMID:36130271)
  • Decapping enzyme 2 is a novel immune-related biomarker that predicts poor prognosis in glioma. (PMID:37191010)
  • MOV10 recruits DCP2 to decap human LINE-1 RNA by forming large cytoplasmic granules with phase separation properties. (PMID:37437058)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriodcp2ENSDARG00000104242
mus_musculusDcp2ENSMUSG00000024472
rattus_norvegicusDcp2ENSRNOG00000045895
drosophila_melanogasterDCP2FBGN0036534
caenorhabditis_elegansWBGENE00003582

Protein

Protein identifiers

m7GpppN-mRNA hydrolaseQ8IU60 (reviewed: Q8IU60)

Alternative names: Nucleoside diphosphate-linked moiety X motif 20, mRNA-decapping enzyme 2

All UniProt accessions (4): A0A6Q8PGI4, A0A6Q8PGL6, B7Z3U5, Q8IU60

UniProt curated annotations — full annotation on UniProt →

Function. Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5’-phosphorylated mRNA fragment and 7m-GDP. Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Plays a role in replication-dependent histone mRNA degradation. Has higher activity towards mRNAs that lack a poly(A) tail. Has no activity towards a cap structure lacking an RNA moiety. The presence of a N(6)-methyladenosine methylation at the second transcribed position of mRNAs (N(6),2’-O-dimethyladenosine cap; m6A(m)) provides resistance to DCP2-mediated decapping. Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts.

Subunit / interactions. Found in a mRNA decay complex with LSM1, LSM3, LSM4, EXOSC2, EXOSC4, EXOSC10, PARN, XRN1, CNOT6, UPF1, UPF2 and UPF3B. Forms a complex with DCP1A, EDC3, DDX6 and EDC4/HEDLS, within this complex directly interacts with EDC4/HEDLS. Interacts with DPC1B. Interacts (via N-terminus and C-terminus) with TRIM21 (via N-terminus and C-terminus). Associates with polysomes. Interacts with LIMD1, WTIP and AJUBA. Interacts with DDX17 in an RNA-dependent manner. Interacts with ZC3HAV1. Interacts with APOBEC3G in an RNA-dependent manner. Interacts with ZFP36L1 (via N-terminus). Interacts with NBDY.

Subcellular location. Cytoplasm. P-body. Nucleus.

Tissue specificity. Expressed in brain and testis. Not detected in heart (at protein level).

Post-translational modifications. Phosphorylated at ser-249 in a MTOR-dependent manner.

Cofactor. Mn(2+) ion is required for highest activity. Can also utilize magnesium ions.

Similarity. Belongs to the Nudix hydrolase family. DCP2 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q8IU60-11yes
Q8IU60-22

RefSeq proteins (2): NP_001229306, NP_689837* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000086NUDIX_hydrolase_domDomain
IPR007722DCP2_BoxADomain
IPR015797NUDIX_hydrolase-like_dom_sfHomologous_superfamily
IPR020084NUDIX_hydrolase_CSConserved_site
IPR036189DCP2_BoxA_sfHomologous_superfamily
IPR044099Dcp2_NUDIXDomain

Pfam: PF00293, PF05026

Enzyme classification (BRENDA):

  • EC 3.6.1.62 — 5’-(N7-methylguanosine 5’-triphospho)-[mRNA] hydrolase (BRENDA: 21 organisms, 123 substrates, 18 inhibitors, 4 Km, 3 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
ADP0.1851
ITP0.00821
M7G5’PPP5’-MRNA0.00341
XDP0.00621

Catalyzed reactions (Rhea), 1 shown:

  • a 5’-end (N(7)-methyl 5’-triphosphoguanosine)-ribonucleoside in mRNA + H2O = N(7)-methyl-GDP + a 5’-end phospho-ribonucleoside in mRNA + 2 H(+) (RHEA:67484)

UniProt features (36 total): strand 8, modified residue 5, helix 5, mutagenesis site 4, turn 3, region of interest 2, binding site 2, chain 1, domain 1, splice variant 1, sequence variant 1, sequence conflict 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

33 structures, top 30 by resolution.

PDBMethodResolution (Å)
5QOQX-RAY DIFFRACTION1.49
5QOOX-RAY DIFFRACTION1.56
5QPAX-RAY DIFFRACTION1.61
5MP0X-RAY DIFFRACTION1.63
5QP8X-RAY DIFFRACTION1.64
5QOVX-RAY DIFFRACTION1.65
5QP6X-RAY DIFFRACTION1.65
5QPCX-RAY DIFFRACTION1.66
5QOTX-RAY DIFFRACTION1.68
5QPBX-RAY DIFFRACTION1.68
5QOYX-RAY DIFFRACTION1.69
5QOSX-RAY DIFFRACTION1.7
5QOZX-RAY DIFFRACTION1.7
5QP4X-RAY DIFFRACTION1.71
5QP9X-RAY DIFFRACTION1.72
5QP3X-RAY DIFFRACTION1.75
5QP1X-RAY DIFFRACTION1.79
5QONX-RAY DIFFRACTION1.8
5QOWX-RAY DIFFRACTION1.82
5QP2X-RAY DIFFRACTION1.83
5QOLX-RAY DIFFRACTION1.85
5QOPX-RAY DIFFRACTION1.86
5QOMX-RAY DIFFRACTION1.87
5QP7X-RAY DIFFRACTION1.88
5QP5X-RAY DIFFRACTION1.9
5QOHX-RAY DIFFRACTION1.93
5QORX-RAY DIFFRACTION1.95
5QOXX-RAY DIFFRACTION1.95
5QOIX-RAY DIFFRACTION1.99
5QP0X-RAY DIFFRACTION2

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IU60-F167.250.35

Functional residue map

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

Ligand- & substrate-binding residues (2): 144; 148

Post-translational modifications (5): 249, 276, 284, 246, 247

Mutagenesis-validated functional residues (4):

PositionPhenotype
147loss of decapping activity; when associated with q-148.
148strongly reduced decapping activity.
249leads to the accumulation of autophagosomes under normal growth conditions.
249leads to reduced autophagosome formation under autophagy-inducing conditions.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-380994ATF4 activates genes in response to endoplasmic reticulum stress
R-HSA-430039mRNA decay by 5’ to 3’ exoribonuclease
R-HSA-450385Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
R-HSA-450513Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-450604KSRP (KHSRP) binds and destabilizes mRNA

MSigDB gene sets: 266 (showing top): GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_TELOMERE_MAINTENANCE_VIA_TELOMERASE, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOMF_NUCLEASE_ACTIVITY, TTTGTAG_MIR520D, REACTOME_MRNA_DECAY_BY_5_TO_3_EXORIBONUCLEASE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TELOMERE_MAINTENANCE_VIA_TELOMERE_LENGTHENING, GOBP_TELOMERE_ORGANIZATION, MITSIADES_RESPONSE_TO_APLIDIN_DN, CTATGCA_MIR153, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION

GO Biological Process (9): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288), deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290), mRNA catabolic process (GO:0006402), negative regulation of telomere maintenance via telomerase (GO:0032211), regulation of mRNA stability (GO:0043488), histone mRNA catabolic process (GO:0071044), regulation of telomerase RNA localization to Cajal body (GO:1904872), mRNA metabolic process (GO:0016071)

GO Molecular Function (9): 5’-3’ RNA exonuclease activity (GO:0004534), RNA exonuclease activity, producing 5’-phosphomonoesters (GO:0016896), manganese ion binding (GO:0030145), telomerase RNA binding (GO:0070034), 5’-(N(7)-methylguanosine 5’-triphospho)-[mRNA] hydrolase activity (GO:0140933), RNA binding (GO:0003723), protein binding (GO:0005515), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (8): P-body (GO:0000932), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), RISC complex (GO:0016442), cell junction (GO:0030054), cytoplasmic ribonucleoprotein granule (GO:0036464), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Regulation of mRNA stability by proteins that bind AU-rich elements3
PERK regulates gene expression1
Deadenylation-dependent mRNA decay1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
nuclear-transcribed mRNA catabolic process4
cellular anatomical structure4
cytoplasm2
mRNA destabilization1
nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay1
mRNA methylguanosine-cap decapping1
RNA catabolic process1
negative regulation of gene expression1
mRNA metabolic process1
telomere maintenance via telomerase1
regulation of telomere maintenance via telomerase1
negative regulation of telomere maintenance via telomere lengthening1
negative regulation of DNA biosynthetic process1
regulation of RNA stability1
regulation of mRNA catabolic process1
histone mRNA metabolic process1
regulation of localization1
telomerase RNA localization to Cajal body1
RNA metabolic process1
5’-3’ exonuclease activity1
RNA exonuclease activity, producing 5’-phosphomonoesters1
RNA exonuclease activity1
transition metal ion binding1
RNA binding1
pyrophosphatase activity1
nucleic acid binding1
binding1
catalytic activity1
cation binding1
cytoplasmic ribonucleoprotein granule1
nuclear lumen1
intracellular anatomical structure1
RNAi effector complex1
ribonucleoprotein granule1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1792 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DCP2XRN1Q8IZH2999
DCP2EDC3Q96F86999
DCP2DCP1AQ9NPI6999
DCP2EDC4Q6P2E9998
DCP2DDX6P26196998
DCP2LSM1O15116967
DCP2UPF1Q92900933
DCP2XRN2Q9H0D6899
DCP2DCPSQ96C86879
DCP2DXOO77932876
DCP2VCX3AQ9NNX9855
DCP2LSM14AQ8ND56845
DCP2DCP1BQ8IZD4844
DCP2UPF2Q9HAU5816
DCP2EIF4EP06730809

IntAct

88 interactions, top by confidence:

ABTypeScore
DCP1ADCP2psi-mi:“MI:0914”(association)0.950
DCP2DCP1Apsi-mi:“MI:0915”(physical association)0.950
DCP1ADCP2psi-mi:“MI:0403”(colocalization)0.950
DCP1ADCP2psi-mi:“MI:0915”(physical association)0.950
DCP2DCP1Apsi-mi:“MI:0914”(association)0.950
DCP1ADDX6psi-mi:“MI:0914”(association)0.930
DCP2EDC4psi-mi:“MI:0915”(physical association)0.890
EDC4DCP2psi-mi:“MI:0914”(association)0.890
EDC4DCP2psi-mi:“MI:0915”(physical association)0.890
XRN1EDC4psi-mi:“MI:0914”(association)0.750
DCP1BDCP2psi-mi:“MI:0914”(association)0.740
UPF1DCP2psi-mi:“MI:0915”(physical association)0.640
UPF1DCP2psi-mi:“MI:0914”(association)0.640
DCP2UPF1psi-mi:“MI:0915”(physical association)0.640
LRRC32SMPD2psi-mi:“MI:0914”(association)0.640
CRKARHGAP42psi-mi:“MI:0914”(association)0.530

BioGRID (170): DCP2 (Affinity Capture-MS), DCP2 (Affinity Capture-MS), DCP2 (Affinity Capture-MS), EDC3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), DCP1B (Affinity Capture-MS), DCP1A (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), EDC4 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), GBAS (Affinity Capture-MS), DCP2 (Affinity Capture-MS), DCP2 (Affinity Capture-MS)

ESM2 similar proteins: A9JRL3, E1C3P4, E9Q4Z2, E9Q5G3, F1M5F3, F1N2W9, F1ND48, F1QDI9, F6RIX4, I0IUP4, O00763, O88974, O94851, P51004, P55265, P55266, Q08J23, Q149N8, Q15047, Q2KHI9, Q4KWZ7, Q5R4N7, Q5R6Z9, Q5RGE5, Q5XIX3, Q5ZKK7, Q641K1, Q69ZT9, Q6NRM6, Q76CY8, Q7TPQ3, Q7TQE7, Q7ZU92, Q8BND4, Q8H2D5, Q8IU60, Q8K2I9, Q8K4J0, Q8K4S7, Q8NFZ0

Diamond homologs: A6ZRW5, O13828, O62255, P53550, Q5REQ8, Q75BK1, Q8GW31, Q8IU60, Q9CYC6, P0C996, P0C997, P32092, Q91FB1, P13420, P46351, Q196U9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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:

PathwayPartnersFoldFDR
mRNA decay by 5’ to 3’ exoribonuclease898.2×1e-12

GO biological processes:

GO termPartnersFoldFDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay532.1×9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance58
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1942 predictions. Top by Δscore:

VariantEffectΔscore
5:112976984:CAGGT:Cdonor_loss1.0000
5:112976985:AGGTA:Adonor_loss1.0000
5:112976986:GG:Gdonor_loss1.0000
5:112976987:G:Tdonor_loss1.0000
5:112976988:T:Gdonor_loss1.0000
5:112985963:GGA:Gdonor_gain1.0000
5:112985965:A:Gdonor_gain1.0000
5:112992249:G:GGdonor_gain1.0000
5:112992766:GAGAG:Gdonor_gain1.0000
5:112992767:AGAGG:Adonor_loss1.0000
5:112992768:GAG:Gdonor_gain1.0000
5:112992768:GAGGT:Gdonor_loss1.0000
5:112992769:AGGT:Adonor_loss1.0000
5:112992770:GGT:Gdonor_loss1.0000
5:112992771:G:GGdonor_gain1.0000
5:112992772:TAAG:Tdonor_loss1.0000
5:113001079:TCCA:Tacceptor_loss1.0000
5:113001081:CA:Cacceptor_loss1.0000
5:113001082:A:AGacceptor_gain1.0000
5:113001083:G:GGacceptor_gain1.0000
5:113001187:G:GTdonor_gain1.0000
5:113001235:GG:Gdonor_gain1.0000
5:113001236:GG:Gdonor_gain1.0000
5:113001237:G:GGdonor_gain1.0000
5:113001562:TGCAG:Tacceptor_loss1.0000
5:113001563:GCA:Gacceptor_loss1.0000
5:113001564:CA:Cacceptor_loss1.0000
5:113001565:A:AGacceptor_gain1.0000
5:113001565:A:ATacceptor_loss1.0000
5:113001566:G:GAacceptor_gain1.0000

AlphaMissense

2818 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:112985839:T:CF20L1.000
5:112985840:T:CF20S1.000
5:112985841:T:AF20L1.000
5:112985841:T:GF20L1.000
5:112985890:T:CF37L1.000
5:112985892:T:AF37L1.000
5:112985892:T:GF37L1.000
5:112985901:A:CE40D1.000
5:112985901:A:TE40D1.000
5:112985903:T:CL41P1.000
5:112985911:T:AW44R1.000
5:112985911:T:CW44R1.000
5:112985913:G:CW44C1.000
5:112985913:G:TW44C1.000
5:112985914:T:CF45L1.000
5:112985916:T:AF45L1.000
5:112985916:T:GF45L1.000
5:112985924:A:TD48V1.000
5:112985975:T:CF65S1.000
5:112985978:C:AA66D1.000
5:112992183:T:AW90R1.000
5:112992183:T:CW90R1.000
5:112992184:G:CW90S1.000
5:112992185:G:CW90C1.000
5:112992185:G:TW90C1.000
5:112992192:T:CY93H1.000
5:112992195:A:GK94E1.000
5:112992197:A:CK94N1.000
5:112992197:A:TK94N1.000
5:112992216:G:CG101R1.000

dbSNP variants (sampled 300 via entrez): RS1000050143 (5:113012005 T>C), RS1000053890 (5:113008988 T>C), RS1000115411 (5:113017056 G>C,T), RS1000373899 (5:113016662 T>C), RS1000462900 (5:113011978 A>G,T), RS1000550175 (5:112977917 T>A,C), RS1000615171 (5:112982712 C>T), RS1000645168 (5:112977777 A>G), RS1000672670 (5:113007039 G>A), RS1000688067 (5:112977007 C>G,T), RS1000739850 (5:112976798 C>G,T), RS1000763527 (5:113003318 A>G), RS1000870217 (5:112999167 T>C), RS1000888572 (5:112990121 G>C), RS1000898524 (5:113002541 A>T)

Disease associations

OMIM: gene MIM:609844 | 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):

StudyTraitp-value
GCST007708_7Worry/vulnerability (special factor of neuroticism)6.000000e-10
GCST011688_1Waist circumference3.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009589worry measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects expression, increases expression2
Valproic Aciddecreases expression, decreases methylation, increases expression2
GSK-J4increases expression1
FR900359decreases phosphorylation1
triphenyl phosphateaffects expression1
trichostatin Aincreases expression1
arseniteaffects binding, decreases reaction1
methylparabendecreases expression1
coumarinincreases phosphorylation1
isobutyl alcoholaffects cotreatment, decreases expression, increases abundance1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608increases reaction, affects binding1
jinfukangdecreases expression1
PCI 5002affects cotreatment, increases expression1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-oldecreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1
Arsenic Trioxideincreases response to substance1
Air Pollutantsdecreases expression, increases abundance1
Atrazinedecreases expression1
Benzo(a)pyrenedecreases methylation1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Golddecreases expression1
Methotrexateaffects response to substance1
Methyl Methanesulfonateincreases expression1
Plant Extractsaffects cotreatment, increases expression1
Polycyclic Aromatic Hydrocarbonsaffects cotreatment, decreases expression, increases abundance1
RNA Cap Analogsaffects response to substance1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

CellosaurusNameCategorySex
CVCL_B7WZAbcam Raji DCP2 KOCancer cell lineMale
CVCL_B9XKAbcam THP-1 DCP2 KOCancer cell lineMale
CVCL_C6ZFAbcam PC-3 DCP2 KOCancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.