STAC
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Also known as STAC1
Summary
STAC (SH3 and cysteine rich domain, HGNC:11353) is a protein-coding gene on chromosome 3p22.3-p22.2, encoding SH3 and cysteine-rich domain-containing protein (Q99469). Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity.
Predicted to enable transmembrane transporter binding activity. Predicted to be involved in positive regulation of protein localization to plasma membrane; positive regulation of voltage-gated calcium channel activity; and skeletal muscle contraction. Predicted to act upstream of or within cellular response to heat; muscle contraction; and regulation of voltage-gated calcium channel activity. Predicted to be located in cytoplasmic side of plasma membrane.
Source: NCBI Gene 6769 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_003149
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11353 |
| Approved symbol | STAC |
| Name | SH3 and cysteine rich domain |
| Location | 3p22.3-p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | STAC1 |
| Ensembl gene | ENSG00000144681 |
| Ensembl biotype | protein_coding |
| OMIM | 602317 |
| Entrez | 6769 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000273183, ENST00000427486, ENST00000434649, ENST00000457375, ENST00000465064, ENST00000473452, ENST00000476388, ENST00000486143, ENST00000903141, ENST00000903142, ENST00000903143, ENST00000929285
RefSeq mRNA: 2 — MANE Select: NM_003149
NM_001292049, NM_003149
CCDS: CCDS2662, CCDS77722
Canonical transcript exons
ENST00000273183 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000966467 | 36505746 | 36505834 |
| ENSE00000966469 | 36528848 | 36528985 |
| ENSE00001150737 | 36546191 | 36548007 |
| ENSE00001834304 | 36380504 | 36380754 |
| ENSE00003511788 | 36493151 | 36493229 |
| ENSE00003514893 | 36482992 | 36483092 |
| ENSE00003526044 | 36443364 | 36443640 |
| ENSE00003558902 | 36484977 | 36485058 |
| ENSE00003664693 | 36486134 | 36486249 |
| ENSE00003676018 | 36504393 | 36504457 |
| ENSE00003784672 | 36528696 | 36528747 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 92.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2467 / max 183.1831, expressed in 1033 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36034 | 2.1117 | 729 |
| 36031 | 1.6277 | 760 |
| 36033 | 0.4111 | 223 |
| 36032 | 0.0962 | 31 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| dorsal root ganglion | UBERON:0000044 | 92.25 | gold quality |
| periodontal ligament | UBERON:0008266 | 87.75 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 84.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.96 | gold quality |
| diaphragm | UBERON:0001103 | 83.77 | gold quality |
| ascending aorta | UBERON:0001496 | 83.42 | gold quality |
| thoracic aorta | UBERON:0001515 | 83.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.06 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 80.28 | gold quality |
| aorta | UBERON:0000947 | 78.18 | gold quality |
| olfactory bulb | UBERON:0002264 | 77.81 | gold quality |
| pancreatic ductal cell | CL:0002079 | 77.69 | silver quality |
| type B pancreatic cell | CL:0000169 | 77.35 | gold quality |
| cerebellar cortex | UBERON:0002129 | 76.18 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 76.16 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 75.49 | silver quality |
| cerebellum | UBERON:0002037 | 75.36 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.99 | gold quality |
| visceral pleura | UBERON:0002401 | 74.97 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 74.86 | gold quality |
| popliteal artery | UBERON:0002250 | 74.45 | gold quality |
| tibial artery | UBERON:0007610 | 74.42 | gold quality |
| prostate gland | UBERON:0002367 | 74.26 | gold quality |
| ventricular zone | UBERON:0003053 | 74.22 | gold quality |
| right lung | UBERON:0002167 | 73.47 | gold quality |
| lung | UBERON:0002048 | 73.27 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 73.11 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 73.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 72.89 | gold quality |
| upper lobe of lung | UBERON:0008948 | 72.87 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 46.86 |
| E-ANND-3 | no | 4.11 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
96 targeting STAC, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
Literature-anchored findings (GeneRIF, showing 2)
- our data establish Stac1 as an important modulator of T-type channel expression and provide new insights into the molecular mechanisms underlying the trafficking of T-type channels to the plasma membrane. (PMID:27149520)
- Our findings suggest that a variant upstream of STAC1 is associated with placebo response, which might have implications for treatment optimization, clinical trial design and drug development. (PMID:28696415)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stac | ENSDARG00000074004 |
| mus_musculus | Stac | ENSMUSG00000032502 |
| rattus_norvegicus | Stac | ENSRNOG00000008865 |
Paralogs (2): STAC2 (ENSG00000141750), STAC3 (ENSG00000185482)
Protein
Protein identifiers
SH3 and cysteine-rich domain-containing protein — Q99469 (reviewed: Q99469)
Alternative names: Src homology 3 and cysteine-rich domain-containing protein
All UniProt accessions (4): Q99469, C9J3Z9, E9PEA7, F8WB25
UniProt curated annotations — full annotation on UniProt →
Function. Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity. Plays a minor and redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C.
Subunit / interactions. Interacts (via SH3 domains) with CACNA1S. Interacts with CACNA1H. Interacts with CACNA1C.
Subcellular location. Cytoplasm. Cytosol. Cell membrane. Sarcolemma.
RefSeq proteins (2): NP_001278978, NP_003140* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR035508 | STAC1_SH3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR039688 | STAC1/2/3 | Family |
| IPR046349 | C1-like_sf | Homologous_superfamily |
Pfam: PF00018, PF00130, PF07653, PF16664
UniProt features (19 total): strand 9, helix 3, domain 2, region of interest 2, chain 1, zinc finger region 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6B25 | X-RAY DIFFRACTION | 2.39 |
| 2DL4 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99469-F1 | 67.02 | 0.31 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 198 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, MORF_ITGA2, GOBP_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, MORF_BRCA1, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MEF2_02, GOBP_SKELETAL_MUSCLE_CONTRACTION, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, MORF_RAD51L3, GOBP_MONOATOMIC_CATION_TRANSPORT, SENESE_HDAC1_AND_HDAC2_TARGETS_DN
GO Biological Process (7): skeletal muscle contraction (GO:0003009), signal transduction (GO:0007165), cellular response to heat (GO:0034605), positive regulation of voltage-gated calcium channel activity (GO:1901387), positive regulation of protein localization to plasma membrane (GO:1903078), positive regulation of cation channel activity (GO:2001259), muscle contraction (GO:0006936)
GO Molecular Function (4): zinc ion binding (GO:0008270), transmembrane transporter binding (GO:0044325), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): cytosol (GO:0005829), cytoplasmic side of plasma membrane (GO:0009898), T-tubule (GO:0030315), cytoplasm (GO:0005737), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020), sarcolemma (GO:0042383)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| plasma membrane | 3 |
| striated muscle contraction | 1 |
| musculoskeletal movement | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| response to heat | 1 |
| cellular response to stress | 1 |
| voltage-gated calcium channel activity | 1 |
| regulation of voltage-gated calcium channel activity | 1 |
| positive regulation of cation channel activity | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 1 |
| monoatomic cation channel activity | 1 |
| positive regulation of ion transmembrane transporter activity | 1 |
| positive regulation of cation transmembrane transport | 1 |
| muscle system process | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cytoplasmic side of membrane | 1 |
| sarcolemma | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
Protein interactions and networks
STRING
1387 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STAC | HLA-G | P17693 | 992 |
| STAC | TRIM45 | Q9H8W5 | 907 |
| STAC | SPART | Q8N0X7 | 889 |
| STAC | FCHSD2 | O94868 | 877 |
| STAC | KIR3DL3 | Q8N743 | 859 |
| STAC | KIR2DL1 | P43626 | 816 |
| STAC | KIR2DL4 | P78400 | 794 |
| STAC | SORBS1 | Q9BX66 | 775 |
| STAC | KIR3DL1 | P43629 | 720 |
| STAC | KIR3DL2 | P43630 | 716 |
| STAC | LILRB1 | Q8NHL6 | 711 |
| STAC | LILRB2 | Q8N423 | 671 |
| STAC | CACNA1H | O95180 | 641 |
| STAC | CDK2 | P24941 | 621 |
| STAC | KIR2DL3 | P43628 | 594 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STAC | YWHAE | psi-mi:“MI:0914”(association) | 0.730 |
| STAC | YWHAE | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| STAC | YWHAE | psi-mi:“MI:0915”(physical association) | 0.730 |
| STAC | STAT5B | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAX5 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAC | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIAA1958 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU6F2 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| KANK2 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAC | NCKIPSD | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAT5B | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAX6 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAC | RNF208 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAC | ATN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAC | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLK6 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBQLN1 | STAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| PARP2 | STAC | psi-mi:“MI:0557”(adp ribosylation reaction) | 0.560 |
BioGRID (41): KANK2 (Two-hybrid), LZTS2 (Two-hybrid), KIAA1958 (Two-hybrid), YWHAZ (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), ANKLE2 (Affinity Capture-MS), STAC (Reconstituted Complex), STAC (Affinity Capture-Western), ANKLE2 (Affinity Capture-MS), YWHAE (Affinity Capture-MS), YWHAZ (Affinity Capture-MS), YWHAB (Affinity Capture-MS), STAC (Biochemical Activity), STAC (Reconstituted Complex), STAC (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: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2207 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:36443395:A:G | acceptor_gain | 1.0000 |
| 3:36443521:G:GT | donor_gain | 1.0000 |
| 3:36484975:A:AG | acceptor_gain | 1.0000 |
| 3:36484976:G:GG | acceptor_gain | 1.0000 |
| 3:36486132:A:AG | acceptor_gain | 1.0000 |
| 3:36486133:G:GA | acceptor_gain | 1.0000 |
| 3:36486133:GCC:G | acceptor_gain | 1.0000 |
| 3:36486133:GCCT:G | acceptor_gain | 1.0000 |
| 3:36486245:CCTCT:C | donor_gain | 1.0000 |
| 3:36486247:TCT:T | donor_gain | 1.0000 |
| 3:36486250:G:GG | donor_gain | 1.0000 |
| 3:36505741:TTCA:T | acceptor_loss | 1.0000 |
| 3:36505742:TCAG:T | acceptor_loss | 1.0000 |
| 3:36505744:A:AG | acceptor_gain | 1.0000 |
| 3:36505744:AG:A | acceptor_gain | 1.0000 |
| 3:36505744:AGG:A | acceptor_gain | 1.0000 |
| 3:36505744:AGGG:A | acceptor_loss | 1.0000 |
| 3:36505745:G:GG | acceptor_gain | 1.0000 |
| 3:36505745:GG:G | acceptor_gain | 1.0000 |
| 3:36505745:GGG:G | acceptor_gain | 1.0000 |
| 3:36505745:GGGAT:G | acceptor_gain | 1.0000 |
| 3:36505830:ATGAG:A | donor_loss | 1.0000 |
| 3:36505831:TGAG:T | donor_loss | 1.0000 |
| 3:36505832:GAGGT:G | donor_loss | 1.0000 |
| 3:36505833:AG:A | donor_loss | 1.0000 |
| 3:36505834:GGTA:G | donor_loss | 1.0000 |
| 3:36505835:GT:G | donor_loss | 1.0000 |
| 3:36505836:T:G | donor_loss | 1.0000 |
| 3:36528694:A:AG | acceptor_gain | 1.0000 |
| 3:36528695:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:36443613:T:C | C121R | 0.999 |
| 3:36443614:G:A | C121Y | 0.999 |
| 3:36443615:T:G | C121W | 0.999 |
| 3:36483018:T:C | C139R | 0.999 |
| 3:36486170:T:A | L203H | 0.999 |
| 3:36486170:T:C | L203P | 0.999 |
| 3:36505789:C:A | A292D | 0.999 |
| 3:36528848:G:A | G325R | 0.999 |
| 3:36528848:G:C | G325R | 0.999 |
| 3:36528848:G:T | G325W | 0.999 |
| 3:36443613:T:A | C121S | 0.998 |
| 3:36443614:G:C | C121S | 0.998 |
| 3:36443622:T:C | C124R | 0.998 |
| 3:36483010:G:A | G136E | 0.998 |
| 3:36483018:T:A | C139S | 0.998 |
| 3:36483019:G:C | C139S | 0.998 |
| 3:36483020:C:G | C139W | 0.998 |
| 3:36483027:T:C | C142R | 0.998 |
| 3:36483028:G:A | C142Y | 0.998 |
| 3:36483029:T:G | C142W | 0.998 |
| 3:36483078:T:C | C159R | 0.998 |
| 3:36484986:T:C | F167L | 0.998 |
| 3:36484988:T:A | F167L | 0.998 |
| 3:36484988:T:G | F167L | 0.998 |
| 3:36484992:C:A | R169S | 0.998 |
| 3:36486173:G:C | R204P | 0.998 |
| 3:36486179:G:A | G206D | 0.998 |
| 3:36505800:T:C | F296L | 0.998 |
| 3:36505802:T:A | F296L | 0.998 |
| 3:36505802:T:G | F296L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000003058 (3:36480186 A>G), RS1000018457 (3:36500830 C>T), RS1000019737 (3:36383634 A>C), RS1000073444 (3:36383420 C>G), RS1000081813 (3:36461007 C>T), RS1000111430 (3:36461327 T>G), RS1000123294 (3:36416791 G>A), RS1000129980 (3:36545415 A>C), RS1000131748 (3:36458492 A>C,G), RS1000151971 (3:36432811 A>G), RS1000160368 (3:36414248 T>A,C), RS1000163771 (3:36477095 A>T), RS1000183301 (3:36545703 T>G), RS1000184851 (3:36393738 C>T), RS1000205449 (3:36435202 T>G)
Disease associations
OMIM: gene MIM:602317 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001572_4 | Erectile dysfunction in type 1 diabetes | 4.000000e-06 |
| GCST002112_4 | Celiac disease | 6.000000e-06 |
| GCST004739_1 | Placebo response in major depressive disorder (% change in symptom score) | 1.000000e-08 |
| GCST004862_181 | Itch intensity from mosquito bite adjusted by bite size | 3.000000e-06 |
| GCST004862_42 | Itch intensity from mosquito bite adjusted by bite size | 1.000000e-06 |
| GCST005212_5 | Asthma | 9.000000e-06 |
| GCST006300_11 | Smoking behaviour (maximum cigarettes in a 24 hour period) | 3.000000e-08 |
| GCST007678_1 | Brooding (response to stress) | 3.000000e-06 |
| GCST009280_1 | Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes | 1.000000e-08 |
| GCST009391_1805 | Metabolite levels | 8.000000e-06 |
| GCST009391_2090 | Metabolite levels | 5.000000e-06 |
| GCST009439_13 | Age-related cognitive decline (language) (slope of z-scores) | 3.000000e-07 |
| GCST009444_2 | Age-related cognitive decline (global cognition) (slope of z-scores) | 1.000000e-06 |
| GCST010654_1 | Arterial stiffness (brachial-femoral pulse wave velocity) | 3.000000e-07 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008344 | response to placebo |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009264 | maximum cigarettes per day measurement |
| EFO:0009858 | brooding stress response |
| EFO:0010403 | triacylglycerol 48:0 measurement |
| EFO:0010373 | phosphatidylcholine 32:1 measurement |
| EFO:0007710 | cognitive decline measurement |
| EFO:0004517 | arterial stiffness measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| lead acetate | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cadmium acetate | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Copper | decreases expression, affects cotreatment | 1 |
| Melphalan | decreases expression | 1 |
| Nicotine | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): celiac disease, diabetic kidney disease, erectile dysfunction