CNKSR3

gene
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Also known as FLJ31349

Summary

CNKSR3 (CNKSR family member 3, HGNC:23034) is a protein-coding gene on chromosome 6q25.2, encoding Connector enhancer of kinase suppressor of ras 3 (Q6P9H4). Involved in transepithelial sodium transport.

Predicted to be involved in negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; and positive regulation of sodium ion transport. Predicted to act upstream of or within positive regulation of sodium ion transmembrane transporter activity. Predicted to be located in apical plasma membrane and cytoplasm.

Source: NCBI Gene 154043 — RefSeq curated summary.

At a glance

  • GWAS associations: 36
  • Clinical variants (ClinVar): 294 total
  • MANE Select transcript: NM_173515

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23034
Approved symbolCNKSR3
NameCNKSR family member 3
Location6q25.2
Locus typegene with protein product
StatusApproved
AliasesFLJ31349
Ensembl geneENSG00000153721
Ensembl biotypeprotein_coding
OMIM617476
Entrez154043

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000424998, ENST00000433165, ENST00000454664, ENST00000479339, ENST00000607772, ENST00000904025, ENST00000904026, ENST00000904027, ENST00000950871

RefSeq mRNA: 5 — MANE Select: NM_173515 NM_001368116, NM_001368117, NM_001368118, NM_001368119, NM_173515

CCDS: CCDS5246, CCDS94023

Canonical transcript exons

ENST00000607772 — 13 exons

ExonStartEnd
ENSE00001012069154414299154414423
ENSE00001012072154422506154422652
ENSE00001012081154422915154422983
ENSE00001792637154428128154428187
ENSE00001854789154510063154510685
ENSE00002452609154410343154410432
ENSE00002507000154430472154430591
ENSE00002519544154441292154441379
ENSE00002731083154410934154411142
ENSE00003458810154433466154433507
ENSE00003506942154450095154450258
ENSE00003643126154442088154442290
ENSE00003700915154387515154406652

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 95.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5354 / max 725.4473, expressed in 1441 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
763214.45641076
763192.61631175
763221.1433600
763200.128235
763180.121851
763160.04159
2042620.022913
763170.00503

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
esophagus squamous epitheliumUBERON:000692095.37gold quality
pigmented layer of retinaUBERON:000178294.23gold quality
ileal mucosaUBERON:000033193.87gold quality
cartilage tissueUBERON:000241892.27gold quality
palpebral conjunctivaUBERON:000181291.27gold quality
amniotic fluidUBERON:000017390.82gold quality
vena cavaUBERON:000408790.54gold quality
tibiaUBERON:000097990.36gold quality
oral cavityUBERON:000016789.88gold quality
ventricular zoneUBERON:000305389.85gold quality
parotid glandUBERON:000183189.50gold quality
liverUBERON:000210789.14gold quality
lower esophagus mucosaUBERON:003583488.53gold quality
left ventricle myocardiumUBERON:000656688.51gold quality
jejunal mucosaUBERON:000039988.38gold quality
right lobe of liverUBERON:000111487.77gold quality
gingival epitheliumUBERON:000194987.16gold quality
gingivaUBERON:000182887.11gold quality
body of pancreasUBERON:000115086.22gold quality
smooth muscle tissueUBERON:000113586.07gold quality
esophagus mucosaUBERON:000246986.06gold quality
calcaneal tendonUBERON:000370186.05gold quality
kidney epitheliumUBERON:000481985.88gold quality
body of uterusUBERON:000985385.55gold quality
ascending aortaUBERON:000149685.54gold quality
pancreasUBERON:000126485.46gold quality
thoracic aortaUBERON:000151585.46gold quality
adult mammalian kidneyUBERON:000008285.32gold quality
corpus epididymisUBERON:000435985.27gold quality
descending thoracic aortaUBERON:000234585.14gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-8142yes50.59
E-GEOD-150728no1977.46
E-MTAB-8271no210.00
E-GEOD-124858no188.34
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXC1

miRNA regulators (miRDB)

83 targeting CNKSR3, 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-4262100.0073.263931
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-1212199.9966.64255
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-548P99.9872.253784
HSA-MIR-60799.9773.625593
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-570-3P99.9672.414910
HSA-MIR-381-3P99.9371.872854
HSA-MIR-335-3P99.9373.364958
HSA-MIR-30099.9271.762856
HSA-MIR-311999.9271.342390
HSA-MIR-806399.9169.763146
HSA-MIR-130599.9171.433443
HSA-MIR-627-3P99.9071.423316
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-30A-3P99.8769.742928

Literature-anchored findings (GeneRIF, showing 7)

  • CNKSR3, a homologue of scaffold proteins involved in MAPK pathway regulation, is a direct target of MR and is required for the maintenance of transepithelial sodium transport in the kidney. (PMID:19567370)
  • CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration. (PMID:22085542)
  • two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power (PMID:22457146)
  • CNK3 is a molecular scaffold, which coordinates the assembly of a multiprotein ENaC-regulatory complex and hence plays a central role in Na(+) homeostasis. (PMID:22851176)
  • Cox regression and Kaplan-Meier survival analysis identified that amplification of the CNKSR3 gene (log-rank, P = 0.022) with an associated increase in its protein expression (log-rank, P = 0.011) correlated with longer patient survival. (PMID:23357503)
  • SCAF8-CNKSR3 variant rs955333 was not associated with diabetic kidney disease but showed association with diabetic retinopathy in Chinese type 2 diabetes patients (PMID:28401168)
  • Significance of miR-15a-5p and CNKSR3 as Novel Prognostic Biomarkers in Non-Small Cell Lung Cancer (PMID:30019650)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusCnksr3ENSMUSG00000015202
rattus_norvegicusCnksr3ENSRNOG00000018052
drosophila_melanogastercnkFBGN0286070
caenorhabditis_elegansWBGENE00000564

Paralogs (4): IPCEF1 (ENSG00000074706), CNKSR1 (ENSG00000142675), CNKSR2 (ENSG00000149970), SAMD3 (ENSG00000164483)

Protein

Protein identifiers

Connector enhancer of kinase suppressor of ras 3Q6P9H4 (reviewed: Q6P9H4)

Alternative names: CNK homolog protein 3, CNKSR family member 3, Maguin-like protein

All UniProt accessions (3): Q6P9H4, A0A5H1ZRR2, Q5T4Y8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC-regulatory complex (ERC).

Subunit / interactions. Interacts with epithelial sodium channel ENaC. Interacts directly with SCNN1A (ENaC subunit alpha) and SCNN1B (ENaC subunit beta) C-terminal tails. Interacts with ENaC regulatory proteins NEDD4L, RAF1 and SGK1.

Subcellular location. Cytoplasm. Apical cell membrane.

Domain organisation. The PDZ domain is required for interaction with ENaC and SGK1, but not for interaction with NEDDL4 and RAF1.

Induction. Up-regulated by aldosterone (at protein level).

Similarity. Belongs to the CNKSR family.

Isoforms (4)

UniProt IDNamesCanonical?
Q6P9H4-1CNK3yes
G9CGD6-1CNK3-IPCEF1-1, CNK3/IPCEF1 Long-1
G9CGD6-2CNK3-IPCEF1-2, CNK3/IPCEF1 Long-2
G9CGD6-3CNK3-IPCEF1-3, CNK3/IPCEF1 Short

RefSeq proteins (5): NP_001355045, NP_001355046, NP_001355047, NP_001355048, NP_775786* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001478PDZDomain
IPR001660SAMDomain
IPR010599CNK2/3_domDomain
IPR013761SAM/pointed_sfHomologous_superfamily
IPR017874CRIC_domainDomain
IPR036034PDZ_sfHomologous_superfamily
IPR049628CNK1-3_SAMDomain
IPR051566CNKSRFamily

Pfam: PF00536, PF00595, PF06663, PF10534

UniProt features (12 total): domain 4, region of interest 3, sequence conflict 2, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6P9H4-F164.670.29

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): 381, 383

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 429 (showing top): GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, RNGTGGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, RRAGTTGT_UNKNOWN, GOBP_EPITHELIUM_DEVELOPMENT, YAATNRNNNYNATT_UNKNOWN, WANG_CLIM2_TARGETS_UP, PAX4_01, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, MODULE_45, GOBP_PEPTIDYL_SERINE_MODIFICATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN

GO Biological Process (4): positive regulation of sodium ion transport (GO:0010765), negative regulation of peptidyl-serine phosphorylation (GO:0033137), negative regulation of ERK1 and ERK2 cascade (GO:0070373), regulation of signal transduction (GO:0009966)

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

GO Cellular Component (4): cytoplasm (GO:0005737), apical plasma membrane (GO:0016324), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
regulation of sodium ion transport1
sodium ion transport1
positive regulation of monoatomic ion transport1
negative regulation of protein phosphorylation1
peptidyl-serine phosphorylation1
regulation of peptidyl-serine phosphorylation1
negative regulation of MAPK cascade1
ERK1 and ERK2 cascade1
regulation of ERK1 and ERK2 cascade1
signal transduction1
regulation of cell communication1
regulation of signaling1
regulation of response to stimulus1
binding1
intracellular anatomical structure1
apical part of cell1
plasma membrane region1
membrane1
cell periphery1

Protein interactions and networks

STRING

472 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CNKSR3SCAF8Q9UPN6664
CNKSR3CYTH2Q99418635
CNKSR3A0A2Q2T6B6A0A2Q2T6B6603
CNKSR3CCDC175P0C221563
CNKSR3CLDN20P56880559
CNKSR3TIAM2Q8IVF5536
CNKSR3ARF6P26438479
CNKSR3TFB1MQ8WVM0475
CNKSR3ZNF619Q8N2I2474
CNKSR3OPRM1P35372471
CNKSR3UBOX5O94941458
CNKSR3SAXO2Q658L1457
CNKSR3GPRIN3Q6ZVF9440
CNKSR3VWC2Q2TAL6407
CNKSR3CLVS2Q5SYC1397

IntAct

76 interactions, top by confidence:

ABTypeScore
CNOT2CNOT1psi-mi:“MI:0914”(association)0.740
CNKSR3NMIpsi-mi:“MI:0915”(physical association)0.670
NMICNKSR3psi-mi:“MI:0915”(physical association)0.670
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
N4BP3CNKSR3psi-mi:“MI:0915”(physical association)0.560
JRKCNKSR3psi-mi:“MI:0915”(physical association)0.560
DDX6CNKSR3psi-mi:“MI:0915”(physical association)0.560
CDKN2BCNKSR3psi-mi:“MI:0915”(physical association)0.560
EIF4A3CNKSR3psi-mi:“MI:0915”(physical association)0.560
FAM76BCNKSR3psi-mi:“MI:0915”(physical association)0.560
CNKSR3GPKOWpsi-mi:“MI:0915”(physical association)0.560
HAVCR2TCAF2psi-mi:“MI:0914”(association)0.530
CNKSR3COLGALT2psi-mi:“MI:0914”(association)0.530
MINK1CNOT1psi-mi:“MI:0914”(association)0.530
PLOD3COL4A1psi-mi:“MI:0914”(association)0.530
TAMALINCNKSR3psi-mi:“MI:0407”(direct interaction)0.440
FRMPD4CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
MAP2K2CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
ABCC4CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
ARHGEF16CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
ASIC3CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
ATP2B4CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
CYSLTR2CNKSR3psi-mi:“MI:0407”(direct interaction)0.440
DGKKCNKSR3psi-mi:“MI:0407”(direct interaction)0.440

BioGRID (75): CNKSR3 (Two-hybrid), CNKSR3 (Affinity Capture-MS), ARHGAP39 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), CNKSR3 (Affinity Capture-MS), DIP2B (Affinity Capture-MS), CNKSR3 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), NISCH (Affinity Capture-MS), CNKSR3 (Proximity Label-MS), CNKSR3 (Proximity Label-MS), CNKSR3 (Two-hybrid), CNKSR3 (Two-hybrid), CNKSR3 (Two-hybrid), CNKSR3 (Two-hybrid)

ESM2 similar proteins: A0A0G2K2P5, A0JNJ1, B1WAP7, G9CGD6, O14640, O75122, O88382, O95049, O97758, P34908, P39447, P51141, P54792, P70175, Q05AS8, Q07157, Q16825, Q5F488, Q5IS48, Q5SGD7, Q5TCQ9, Q5XI81, Q61062, Q62136, Q62728, Q62936, Q6DKE2, Q6P9H4, Q6ZM86, Q812E4, Q86UL8, Q8BMA3, Q8IVH8, Q8JHI3, Q8TDW5, Q920B0, Q924I2, Q925T6, Q92997, Q95168

Diamond homologs: A0JN54, A8JQ65, B3LXF2, B3NYS4, B4I4Y1, B4JHJ7, B4K6T8, B4PRE2, B4R0A5, D3YWQ0, D3YXJ0, D3YZU1, D3ZEY4, E9PUQ8, F1MAB7, F4JKI3, F4JQ95, G9CGD6, O08560, O75912, O88673, P09216, P10830, P16054, P20192, P23298, P23743, P34885, P49619, P49620, P49621, P51556, P52429, P52824, P90980, Q01583, Q02156, Q03603, Q05655, Q09103

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
Activation of BAD and translocation to mitochondria6103.8×2e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex691.6×2e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways691.6×2e-09
Activation of BH3-only proteins667.7×1e-08
RHO GTPases activate PKNs643.3×2e-07
Intrinsic Pathway for Apoptosis639.9×3e-07
Apoptosis726.7×3e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane724.6×4e-07

GO biological processes:

GO termPartnersFoldFDR
protein targeting532.7×1e-04
intracellular protein localization814.9×3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance224
Likely benign13
Benign5

Top pathogenic / likely-pathogenic (0)

SpliceAI

9603 predictions. Top by Δscore:

VariantEffectΔscore
3:65361333:CCAAT:Cacceptor_gain1.0000
3:65361334:CAAT:Cacceptor_gain1.0000
3:65361334:CAATC:Cacceptor_gain1.0000
3:65361335:AAT:Aacceptor_gain1.0000
3:65361336:AT:Aacceptor_gain1.0000
3:65361336:ATC:Aacceptor_loss1.0000
3:65361337:TC:Tacceptor_loss1.0000
3:65361338:C:CCacceptor_gain1.0000
3:65361338:C:CGacceptor_loss1.0000
3:65363460:CTTA:Cdonor_loss1.0000
3:65363463:A:ACdonor_gain1.0000
3:65363463:AC:Adonor_gain1.0000
3:65363464:C:CCdonor_gain1.0000
3:65363464:C:CGdonor_loss1.0000
3:65363464:CC:Cdonor_gain1.0000
3:65363464:CCCT:Cdonor_gain1.0000
3:65363604:TGCTC:Tacceptor_gain1.0000
3:65363605:GCTC:Gacceptor_gain1.0000
3:65363605:GCTCC:Gacceptor_gain1.0000
3:65363606:CTC:Cacceptor_gain1.0000
3:65363606:CTCC:Cacceptor_gain1.0000
3:65363606:CTCCT:Cacceptor_gain1.0000
3:65363607:TC:Tacceptor_gain1.0000
3:65363607:TCCT:Tacceptor_gain1.0000
3:65363608:CC:Cacceptor_gain1.0000
3:65363609:C:CCacceptor_gain1.0000
3:65363611:A:ACacceptor_gain1.0000
3:65363611:A:Cacceptor_gain1.0000
3:65363612:T:TCacceptor_gain1.0000
3:65363613:T:Cacceptor_gain1.0000

AlphaMissense

3591 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:154422630:A:GL274P1.000
6:154422646:A:GW269R1.000
6:154422646:A:TW269R1.000
6:154422648:C:TG268E1.000
6:154422940:A:TV258D1.000
6:154428177:A:TI227N1.000
6:154441311:A:GL163P1.000
6:154450108:A:GL68P1.000
6:154450168:A:GL48P1.000
6:154450192:A:GL40P1.000
6:154510070:C:AW15C1.000
6:154510070:C:GW15C1.000
6:154510072:A:GW15R1.000
6:154510072:A:TW15R1.000
6:154510094:C:AW7C1.000
6:154510094:C:GW7C1.000
6:154510096:A:GW7R1.000
6:154510096:A:TW7R1.000
6:154422644:C:AW269C0.999
6:154422644:C:GW269C0.999
6:154422645:C:GW269S0.999
6:154422649:C:GG268R0.999
6:154422649:C:TG268R0.999
6:154422931:A:TV261D0.999
6:154422934:T:GQ260P0.999
6:154422946:T:AD256V0.999
6:154428154:G:CH235D0.999
6:154428173:T:AK228N0.999
6:154428173:T:GK228N0.999
6:154428175:T:CK228E0.999

dbSNP variants (sampled 300 via entrez): RS1000019787 (6:154389684 A>C), RS1000027147 (6:154494364 C>A,T), RS1000056758 (6:154494528 T>A), RS1000084418 (6:154432881 G>A), RS1000106523 (6:154390059 T>C), RS1000121939 (6:154487857 T>C), RS1000127023 (6:154405267 C>A,T), RS1000181081 (6:154456424 G>A), RS1000190746 (6:154429667 T>C,G), RS1000191055 (6:154500724 G>A), RS1000240159 (6:154417959 A>G), RS1000279828 (6:154471364 C>A), RS1000318684 (6:154500528 T>A), RS1000345629 (6:154423647 A>G), RS1000408881 (6:154452783 C>G,T)

Disease associations

OMIM: gene MIM:617476 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

36 associations (top):

StudyTraitp-value
GCST001430_5Parkinson’s disease9.000000e-07
GCST001607_9Renal function-related traits (eGRFcrea)5.000000e-06
GCST001925_7PR interval8.000000e-06
GCST002251_3Homeostasis model assessment of beta-cell function (dietary factor interaction)6.000000e-06
GCST002729_1Crohn’s disease-related phenotypes2.000000e-08
GCST002729_5Crohn’s disease-related phenotypes5.000000e-07
GCST002920_6Neuroticism2.000000e-08
GCST002930_5Cobalt levels2.000000e-06
GCST003098_16Diabetic kidney disease6.000000e-09
GCST003127_9Lipoprotein (a) levels4.000000e-10
GCST003264_1611Post bronchodilator FEV1/FVC ratio1.000000e-06
GCST003831_13Asthma2.000000e-06
GCST003832_21Asthma (childhood onset)2.000000e-06
GCST004125_18Type 2 diabetes (age of onset)9.000000e-06
GCST004288_3Adolescent idiopathic scoliosis2.000000e-12
GCST004881_2Knee osteoarthritis3.000000e-07
GCST005174_7Coronary artery calcified atherosclerotic plaque score in type 2 diabetes9.000000e-06
GCST006940_141Neurociticism1.000000e-08
GCST008059_236Estimated glomerular filtration rate4.000000e-10
GCST008758_40Pre-treatment viral load in HIV-1 infection4.000000e-16
GCST010002_428Refractive error5.000000e-11
GCST010052_1Ocular sarcoidosis in sarcoidosis8.000000e-08
GCST010054_61Ocular sarcoidosis1.000000e-08
GCST010105_117Nicotine dependence symptom count2.000000e-06
GCST010105_157Nicotine dependence symptom count2.000000e-06
GCST010698_44Subcortical volume (min-P)1.000000e-11
GCST010699_15Brain morphology (min-P)3.000000e-10
GCST010701_35Cortical surface area (MOSTest)6.000000e-25
GCST010702_138Subcortical volume (MOSTest)4.000000e-14
GCST010703_242Brain morphology (MOSTest)7.000000e-12

EFO canonical traits (17, from GWAS)

EFO IDTrait name
EFO:0004462PR interval
EFO:0004469HOMA-B
EFO:0008111diet measurement
EFO:0006818stricture
EFO:0006820complicated disease course
EFO:0007660neuroticism measurement
EFO:0006925lipoprotein A measurement
EFO:0004713FEV/FVC ratio
EFO:0004723coronary artery calcification
EFO:0010125viral load
EFO:0010723ocular sarcoidosis
EFO:0009262nicotine dependence symptom count
EFO:0004346neuroimaging measurement
EFO:0009819comparative body size at age 10, self-reported
EFO:1001930idiopathic osteonecrosis of the femoral head
EFO:0600027hemoglobin change measurement
EFO:0004532serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs6917661CNKSR30.000

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Estradiolincreases expression, increases reaction, affects expression, affects cotreatment, decreases expression4
trichostatin Aincreases expression, affects cotreatment3
Benzo(a)pyrenedecreases expression, increases methylation3
Tretinoindecreases expression, increases expression2
Valproic Acidaffects expression, increases expression2
Aflatoxin B1decreases expression, increases methylation2
aristolochic acid Iincreases expression1
arseniteaffects binding, decreases reaction1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteaffects cotreatment, decreases expression, increases abundance1
cobaltous chlorideincreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
potassium chromate(VI)affects cotreatment, decreases expression1
S-(1,2-dichlorovinyl)cysteineincreases expression, decreases reaction1
epigallocatechin gallateaffects cotreatment, decreases expression1
pentanaldecreases expression1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
jinfukangaffects cotreatment, decreases expression1
(+)-JQ1 compoundincreases expression1
PCI 5002affects cotreatment, increases expression1
Temozolomideincreases expression1
Leflunomideincreases expression1
Arsenicdecreases expression, increases abundance, affects cotreatment1
Caffeinedecreases phosphorylation1
Carbamazepineaffects expression1
Cisplatinaffects cotreatment, decreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_B2UMAbcam HEK293T CNKSR3 KOTransformed cell lineFemale

Clinical trials (associated diseases)

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