EXOC2
gene geneOn this page
Also known as FLJ11026Sec5
Summary
EXOC2 (exocyst complex component 2, HGNC:24968) is a protein-coding gene on chromosome 6p25.3, encoding Exocyst complex component 2 (Q96KP1). Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. It is a selective cancer dependency (DepMap: 27.1% of cell lines).
The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55770 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 61 (top 1% of genes corpus-wide)
- Clinical variants (ClinVar): 252 total — 4 pathogenic
- GTEx eGene: eQTL in 46 tissues, sQTL in 23 (q < 0.05)
- Phenotypes (HPO): 37
- Cancer dependency (DepMap): dependent in 27.1% of screened cell lines
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.63 (unconstrained)
- MANE Select transcript:
NM_018303 - Notable: 252 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24968 |
| Approved symbol | EXOC2 |
| Name | exocyst complex component 2 |
| Location | 6p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11026, Sec5 |
| Ensembl gene | ENSG00000112685 |
| Ensembl biotype | protein_coding |
| OMIM | 615329 |
| Entrez | 55770 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 35 protein_coding, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
MANE Select: ENST00000230449
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1, TSL 4: 1
ENST00000230449, ENST00000443083, ENST00000475028, ENST00000870874, ENST00000870875, ENST00000870876, ENST00000870877, ENST00000870878, ENST00000870879, ENST00000930287, ENST00000930288, ENST00000930289, ENST00000930290, ENST00000930291, ENST00000930292, ENST00000930293, ENST00000930294, ENST00000930295, ENST00000930296, ENST00000949686, ENST00000949687, ENST00000949688, ENST00000949689, ENST00000949690, ENST00000949691, ENST00000949692, ENST00001001316, ENST00001001317, ENST00001001318, ENST00001023356, ENST00001082419, ENST00001111283, ENST00001113899, ENST00001113900, ENST00001113901, ENST00001113902, ENST00001113903, ENST00001113904, ENST00001113905, ENST00001135574
RefSeq mRNA: 1 — MANE Select: NM_018303
NM_018303
CCDS: CCDS34327
Canonical transcript exons
ENST00000230449 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000679928 | 637701 | 637861 |
| ENSE00000847761 | 632941 | 633117 |
| ENSE00001275977 | 485154 | 486764 |
| ENSE00001961245 | 592469 | 592587 |
| ENSE00001962595 | 572520 | 572644 |
| ENSE00001963937 | 610098 | 610178 |
| ENSE00001964901 | 564033 | 564154 |
| ENSE00001966837 | 617711 | 617835 |
| ENSE00001968959 | 549175 | 549291 |
| ENSE00001970714 | 488979 | 489038 |
| ENSE00001971092 | 562784 | 562845 |
| ENSE00001971333 | 499645 | 499700 |
| ENSE00001975259 | 532469 | 532610 |
| ENSE00001976768 | 564864 | 564929 |
| ENSE00001977261 | 555954 | 556013 |
| ENSE00001977911 | 619430 | 619543 |
| ENSE00001978306 | 556484 | 556564 |
| ENSE00001979168 | 491125 | 491186 |
| ENSE00001979195 | 598021 | 598123 |
| ENSE00001983308 | 564545 | 564702 |
| ENSE00001983943 | 555227 | 555288 |
| ENSE00001985443 | 553854 | 553920 |
| ENSE00001986055 | 497367 | 497489 |
| ENSE00001987451 | 599080 | 599225 |
| ENSE00001988149 | 598860 | 598941 |
| ENSE00003643190 | 576757 | 576882 |
| ENSE00003789881 | 629835 | 629961 |
| ENSE00003846072 | 693019 | 693139 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 90.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4902 / max 112.4891, expressed in 1810 samples.
Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, middle temporal gyrus, cortical plate, secondary oocyte, primordial germ cell in gonad.
Genetic regulation across tissues (GTEx eQTL / sQTL)
EXOC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 46 tissues and its splicing (sQTL) in 23 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 69 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Cells Cultured fibroblasts | eqtl | 1.1e-59 | -0.55 | 6:692805:C:G |
| Muscle Skeletal | eqtl | 6.1e-49 | -0.39 | 6:692805:C:G |
| Artery Tibial | eqtl | 4.8e-48 | -0.50 | 6:692805:C:G |
| Whole Blood | eqtl | 6.5e-37 | -0.32 | 6:692805:C:G |
| Esophagus Mucosa | eqtl | 3.7e-34 | -0.35 | 6:692805:C:G |
| Nerve Tibial | eqtl | 3.5e-31 | -0.38 | 6:692805:C:G |
| Colon Transverse | eqtl | 5.0e-29 | -0.45 | 6:692805:C:G |
| Lung | eqtl | 1.7e-28 | -0.40 | 6:692805:C:G |
| Heart Atrial Appendage | eqtl | 1.8e-28 | +0.79 | 6:529104:C:T |
| Adipose Visceral Omentum | eqtl | 3.4e-28 | -0.43 | 6:692805:C:G |
| Artery Aorta | eqtl | 5.7e-26 | -0.40 | 6:692805:C:G |
| Esophagus Muscularis | eqtl | 6.3e-26 | -0.33 | 6:692805:C:G |
| Adipose Subcutaneous | eqtl | 3.2e-25 | -0.36 | 6:692805:C:G |
| Skin Not Sun Exposed Suprapubic | eqtl | 2.1e-20 | -0.33 | 6:694849:A:C |
| Heart Left Ventricle | eqtl | 3.0e-20 | -0.33 | 6:692805:C:G |
| Colon Sigmoid | eqtl | 4.9e-18 | -0.37 | 6:692805:C:G |
| Skin Sun Exposed Lower leg | eqtl | 5.6e-17 | -0.25 | 6:692805:C:G |
| Artery Coronary | eqtl | 2.6e-16 | -0.45 | 6:692805:C:G |
| Brain Spinal cord cervical c-1 | eqtl | 7.2e-16 | -0.51 | 6:692805:C:G |
| Thyroid | eqtl | 3.5e-15 | -0.35 | 6:695411:G:A |
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71331 | 17.8023 | 1809 |
| 71330 | 0.3632 | 165 |
| 71332 | 0.3247 | 148 |
Top tissues by expression
showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.57 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.36 | gold quality |
| cortical plate | UBERON:0005343 | 89.19 | gold quality |
| secondary oocyte | CL:0000655 | 87.93 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.93 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.22 | gold quality |
| oocyte | CL:0000023 | 86.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.90 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.77 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.52 | gold quality |
| granulocyte | CL:0000094 | 84.23 | gold quality |
| leukocyte | CL:0000738 | 84.03 | gold quality |
| monocyte | CL:0000576 | 83.99 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.91 | gold quality |
| ventricular zone | UBERON:0003053 | 83.82 | gold quality |
| mononuclear cell | CL:0000842 | 83.79 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.35 | gold quality |
| spinal cord | UBERON:0002240 | 82.42 | gold quality |
| corpus callosum | UBERON:0002336 | 82.33 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.21 | gold quality |
| rectum | UBERON:0001052 | 82.18 | gold quality |
| testis | UBERON:0000473 | 82.06 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 81.96 | gold quality |
| right testis | UBERON:0004534 | 81.88 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.84 | gold quality |
| popliteal artery | UBERON:0002250 | 81.67 | gold quality |
| tibial artery | UBERON:0007610 | 81.67 | gold quality |
| esophagus | UBERON:0001043 | 81.66 | gold quality |
| ectocervix | UBERON:0012249 | 81.61 | gold quality |
| visceral pleura | UBERON:0002401 | 81.55 | gold quality |
| muscle of leg | UBERON:0001383 | 81.46 | gold quality |
| right lung | UBERON:0002167 | 81.44 | gold quality |
| lymph node | UBERON:0000029 | 81.42 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.35 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 81.34 | gold quality |
| adrenal tissue | UBERON:0018303 | 81.33 | gold quality |
| left testis | UBERON:0004533 | 81.32 | gold quality |
| cingulate cortex | UBERON:0003027 | 81.24 | gold quality |
| skin of leg | UBERON:0001511 | 81.23 | gold quality |
| gall bladder | UBERON:0002110 | 81.21 | gold quality |
| lower esophagus | UBERON:0013473 | 81.20 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.19 | gold quality |
| left coronary artery | UBERON:0001626 | 81.15 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.07 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.05 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.91 | gold quality |
| aorta | UBERON:0000947 | 80.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 80.72 | gold quality |
| occipital lobe | UBERON:0002021 | 80.65 | gold quality |
| endocervix | UBERON:0000458 | 80.64 | gold quality |
| neocortex | UBERON:0001950 | 80.54 | gold quality |
| right coronary artery | UBERON:0001625 | 80.49 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.41 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 80.32 | gold quality |
| tibial nerve | UBERON:0001323 | 80.31 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 80.29 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.23 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.19 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.15 | gold quality |
| vagina | UBERON:0000996 | 80.12 | gold quality |
| parietal pleura | UBERON:0002400 | 80.12 | gold quality |
| coronary artery | UBERON:0001621 | 80.10 | gold quality |
| amygdala | UBERON:0001876 | 80.07 | gold quality |
| thoracic aorta | UBERON:0001515 | 80.03 | gold quality |
| ascending aorta | UBERON:0001496 | 80.02 | gold quality |
| omental fat pad | UBERON:0010414 | 80.02 | gold quality |
| body of stomach | UBERON:0001161 | 80.01 | gold quality |
| peritoneum | UBERON:0002358 | 79.98 | gold quality |
| frontal cortex | UBERON:0001870 | 79.92 | gold quality |
| spleen | UBERON:0002106 | 79.88 | gold quality |
| adrenal gland | UBERON:0002369 | 79.84 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 79.83 | gold quality |
| pleura | UBERON:0000977 | 79.78 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.76 | gold quality |
| right atrium auricular region | UBERON:0006631 | 79.75 | gold quality |
| stomach | UBERON:0000945 | 79.69 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.62 | gold quality |
| tonsil | UBERON:0002372 | 79.60 | gold quality |
| tibia | UBERON:0000979 | 79.59 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 79.58 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 79.56 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 79.50 | gold quality |
| upper lobe of lung | UBERON:0008948 | 79.49 | gold quality |
| body of uterus | UBERON:0009853 | 79.48 | gold quality |
| blood | UBERON:0000178 | 79.45 | gold quality |
| transverse colon | UBERON:0001157 | 79.44 | gold quality |
| pancreas | UBERON:0001264 | 79.42 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 79.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.38 | gold quality |
| telencephalon | UBERON:0001893 | 79.37 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.37 | gold quality |
| placenta | UBERON:0001987 | 79.28 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.27 | gold quality |
| adrenal cortex | UBERON:0001235 | 79.21 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 79.20 | gold quality |
| forebrain | UBERON:0001890 | 79.09 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.66 |
| E-MTAB-4850 | no | 584.22 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Cerebellum | tissue | 45.0 |
| Cerebral cortex | tissue | 38.0 |
| Somatosensory cortex | tissue | 38.0 |
| Thalamus | tissue | 36.3 |
| Putamen | tissue | 35.9 |
| Spinal cord | tissue | 35.5 |
| Pons | tissue | 35.4 |
| Ventral forebrain | tissue | 35.3 |
| Midbrain | tissue | 35.2 |
| Superior colliculi | tissue | 35.2 |
| Occipital cortex | tissue | 35.1 |
| Septum | tissue | 34.3 |
| Hypothalamus | tissue | 33.9 |
| Hippocampal formation | tissue | 33.7 |
| Basal ganglia | tissue | 33.5 |
| Substantia nigra | tissue | 33.5 |
| Medulla oblongata | tissue | 33.4 |
| Corpus callosum | tissue | 33.1 |
| Motor cortex | tissue | 32.9 |
| Temporal cortex | tissue | 31.9 |
| Entorhinal cortex | tissue | 31.0 |
| Periaqueductal gray | tissue | 31.0 |
| Retrosplenial and cingulate cortex | tissue | 30.8 |
| Olfactory bulb | tissue | 30.8 |
| Prefrontal cortex | tissue | 30.4 |
| Insular cortex | tissue | 30.3 |
| Retrosplenial cortex | tissue | 29.8 |
| Amygdala | tissue | 29.5 |
| Locus coeruleus | tissue | 29.1 |
| Choroid plexus | tissue | 26.7 |
| Postcentral gyrus | tissue | 25.3 |
| Frontal cortex | tissue | 24.7 |
| Nucleus accumbens | tissue | 22.8 |
| Caudate putamen | tissue | 22.8 |
| Hippocampus | tissue | 22.7 |
| Thymus | tissue | 17.3 |
| Placenta | tissue | 16.9 |
| Testis | tissue | 15.1 |
| Thyroid gland | tissue | 13.3 |
| Tonsil | tissue | 13.2 |
| Lymph node | tissue | 12.5 |
| Retina | tissue | 12.4 |
| Spleen | tissue | 12.3 |
| Esophagus | tissue | 11.5 |
| Skin 1 | tissue | 11.1 |
| Parathyroid gland | tissue | 10.9 |
| Appendix | tissue | 10.9 |
| Heart muscle | tissue | 10.8 |
| Lung | tissue | 10.7 |
| Breast | tissue | 10.2 |
| Urinary bladder | tissue | 10.1 |
| Tongue | tissue | 9.8 |
| Liver | tissue | 9.6 |
| Cervix | tissue | 9.5 |
| Rectum | tissue | 9.4 |
| Kidney | tissue | 8.7 |
| Vagina | tissue | 8.6 |
| Smooth muscle | tissue | 8.6 |
| Colon | tissue | 8.6 |
| Stomach 1 | tissue | 8.4 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Ventral spinal cord (35.5), Dorsal spinal cord (34.5), Dorsal hippocampus (33.7), White matter (33.1), Ventral hippocampus (32.4).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting EXOC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 55 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-132-3P | 99.73 | 70.56 | 1424 |
| HSA-MIR-212-3P | 99.73 | 70.65 | 1424 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
Functional genomics
gnomAD constraint: pLI 4.27e-07, LOEUF 0.626, missense Z 2.52 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000230449 — one region, missense o/e 0.83.
DepMap (CRISPR cell-line fitness): dependent in 27.1% of screened cell lines.
Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): MC116 (-1.191), KNS-62 (-1.107), KP-N-YS (-1.103), PEO1 (-0.994), 697 (-0.963), PCI-38 (-0.942), LS1034 (-0.94), KARPAS-422 (-0.934), SISO (-0.93), SK-N-FI (-0.924), SNU-1033 (-0.914), HCC2998 (-0.911), LS513 (-0.885), DND-41 (-0.879), A-673 (-0.876).
Literature-anchored findings (GeneRIF, showing 12)
- SEC5 has been identified as a binding partner of deafness locus putative guanine nucleotide exchange factor. (PMID:12459492)
- Functional study of the Drosophila homolog. (PMID:12575951)
- evidence that mammalian exocyst components are present as distinct subcomplexes on vesicles and the plasma membrane and that Ral GTPases regulate the assembly interface of a full octameric exocyst complex through interaction with Sec5 and Exo84 (PMID:14525976)
- These observations define the mechanistic contribution of RalGTPases to cancer cell survival and reveal the RalB/Sec5 effector complex as a component of TBK1-dependent innate immune signaling. (PMID:17018283)
- Localization of Exocyst and, by extension, targeting of Exocyst-dependent cargo, is dependent on Ral GTPases, which control association between Sec5 and paxillin. (PMID:18697830)
- shRNA-mediated knockdown of the Ral effector proteins Sec5 and Exo84, but less so in the case of RalBP1, reduced oncogenic RalGEF-mediated transformation and oncogenic Ras-driven tumorigenic growth of human cells. (PMID:20145037)
- Data show that Mc1R, HERC2, IRF4, TYR and EXOC2 are ranked highest in hair color prediction analysis. (PMID:21197618)
- We identified interactions between RalA and its effectors sec5 and exo84 in the Exocyst complex as directly necessary for migration and invasion of prostate cancer tumor cells. (PMID:22761837)
- Exocyst sec5 regulates exocytosis of newcomer insulin granules underlying biphasic insulin secretion. (PMID:23844030)
- data suggest that the induction of SGK1 through treatment with dexamethasone alters MT dynamics to increase Sec5-GEF-H1 interactions, which promote GEF-H1 targeting to adhesion sites. (PMID:26359301)
- Mutations in the exocyst component EXOC2 cause severe defects in human brain development. (PMID:32639540)
- The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD. (PMID:38935506)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | exoc2 | ENSDARG00000055610 |
| mus_musculus | Exoc2 | ENSMUSG00000021357 |
| rattus_norvegicus | Exoc2 | ENSRNOG00000060266 |
| drosophila_melanogaster | Sec5 | FBGN0266670 |
| caenorhabditis_elegans | WBGENE00004752 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1913732) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| failure of blastocyst to hatch from the zona pellucida | 1 |
| preweaning lethality, complete penetrance | 1 |
| embryonic lethality prior to organogenesis | 1 |
| embryonic lethality prior to organogenesis, complete penetrance | 1 |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| HUS1B | protein-coding | 135458 |
| IRF4 | protein-coding | 3662 |
| LINC01622 | ncRNA | 285768 |
| LIRIL2R | ncRNA | 105374869 |
| LINC03066 | ncRNA | 285766 |
| DUSP22 | protein-coding | 56940 |
Protein
Protein identifiers
Exocyst complex component 2 — Q96KP1 (reviewed: Q96KP1)
Alternative names: Exocyst complex component Sec5
All UniProt accessions (2): Q96KP1, Q2MDF5
UniProt curated annotations — full annotation on UniProt →
Function. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
Subunit / interactions. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with EXOC3L1. Interacts with GNEFR/DELGEF; this interaction occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP. Interacts with RALA and RALB. Interacts with ARL13B; regulates ARL13B localization to the cilium membrane.
Subcellular location. Midbody. Midbody ring.
Tissue specificity. Widely expressed with highest levels in brain and placenta.
Disease relevance. Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) [MIM:619306] An autosomal recessive disorder characterized by global developmental delay, intellectual disability, facial dysmorphism, and abnormalities of the cerebellum observed on brain imaging. Disease severity is variable. Some affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech. Others may achieve more significant developmental milestones. Additional variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. Interacts with RALA through the TIG domain.
Similarity. Belongs to the SEC5 family.
RefSeq proteins (1): NP_060773* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002909 | IPT_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014756 | Ig_E-set | Homologous_superfamily |
| IPR029175 | EXOC2/Sec5 | Family |
| IPR039481 | EXOC2/Sec5_N_dom | Domain |
Pfam: PF01833, PF15469
UniProt features (16 total): modified residue 6, sequence variant 4, sequence conflict 2, chain 1, domain 1, mutagenesis site 1, coiled-coil region 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96KP1-F1 | 80.82 | 0.46 |
Human Protein Atlas
Protein class: Transporters, Transporter channels and pores, Predicted intracellular proteins, RAS pathway related proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Congenital malformations of the nervous system, Essential proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): vesicles
Antibody reliability (HPA): IF approved
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 (6)
| Type | Positions |
|---|---|
| Phosphoserine | 431, 432, 435, 888 |
| Phosphothreonine | 440 |
| N6-acetyllysine | 454 |
Mutagenesis-validated functional residues (1)
| Position | Phenotype |
|---|---|
| 11 | impaired cytokinesis. loss of rala-binding. no change in localization to the midbody during cytokinesis. |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 10; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
10 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-264876 | Insulin processing | curated |
| R-HSA-5620916 | VxPx cargo-targeting to cilium | curated |
| R-HSA-5620920 | Cargo trafficking to the periciliary membrane | — |
| R-HSA-5617833 | Cilium Assembly | — |
| R-HSA-199991 | Membrane Trafficking | — |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-1852241 | Organelle biogenesis and maintenance | — |
| R-HSA-2980736 | Peptide hormone metabolism | — |
| R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane | electronic |
| R-HSA-5653656 | Vesicle-mediated transport | — |
MSigDB gene sets: 249 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_MITOTIC_CYTOKINESIS, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_TARGETING, CAFFAREL_RESPONSE_TO_THC_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_MEMBRANE_DOCKING, chr6p25, GOBP_EXOCYTOSIS, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, MODULE_205, GOBP_VESICLE_DOCKING_INVOLVED_IN_EXOCYTOSIS
GO Biological Process (6): mitotic cytokinesis (GO:0000281), exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), protein transport (GO:0015031), membrane fission (GO:0090148), regulation of entry of bacterium into host cell (GO:2000535)
GO Molecular Function (4): protein kinase binding (GO:0019901), GTP-dependent protein binding (GO:0030742), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (5): exocyst (GO:0000145), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), Flemming body (GO:0090543)
Reactome top-level categories
7 top-level categories:
| Category | Pathways |
|---|---|
| Membrane Trafficking | 1 |
| Peptide hormone metabolism | 1 |
| Cargo trafficking to the periciliary membrane | 1 |
| Vesicle-mediated transport | 1 |
| Metabolism of proteins | 1 |
| Organelle biogenesis and maintenance | 1 |
| Assembly of the 9+0 primary cilium | 1 |
GO top-level categories
25 GO namespaces:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| post-Golgi vesicle-mediated transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| membrane organization | 1 |
| entry of bacterium into host cell | 1 |
| modulation by symbiont of entry into host | 1 |
| kinase binding | 1 |
| protein binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| cell cortex | 1 |
| vesicle tethering complex | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| midbody | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).
6 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| Golgi to plasma membrane transport | BP | mutant phenotype |
| regulation of entry of bacterium into host cell | BP | mutant phenotype |
| exocyst | CC | direct assay |
| membrane | CC | high-throughput assay |
| protein kinase binding | MF | physical interaction |
| small GTPase binding | MF | physical interaction |
Protein interactions and networks
STRING
showing 15 of 1,536 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXOC2 | RALB | P11234 | 927 |
| EXOC2 | EXOC8 | Q8IYI6 | 923 |
| EXOC2 | EXOC1 | Q9NV70 | 922 |
| EXOC2 | EXOC5 | O00471 | 921 |
| EXOC2 | EXOC3 | O60645 | 921 |
| EXOC2 | EXOC4 | Q96A65 | 921 |
| EXOC2 | EXOC7 | Q9UPT5 | 920 |
| EXOC2 | EXOC6 | Q8TAG9 | 917 |
| EXOC2 | SERGEF | Q9UGK8 | 799 |
| EXOC2 | DPH3 | Q96FX2 | 774 |
| EXOC2 | TBK1 | Q9UHD2 | 772 |
| EXOC2 | RALA | P11233 | 752 |
| EXOC2 | SSR2 | P43308 | 697 |
| EXOC2 | RALBP1 | Q15311 | 649 |
| EXOC2 | IKBKE | Q14164 | 623 |
IntAct
Human interaction partners of EXOC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
14 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| EXOC1 | direct interaction | 0.880 | 5 |
| EXOC3 | association | 0.790 | 2 |
| EGFR | physical association | 0.400 | 1 |
| SERGEF | physical association | 0.400 | 1 |
| CDKN2A | physical association | 0.370 | 1 |
| ESX1 | physical association | 0.370 | 1 |
| DISC1 | physical association | 0.000 | 1 |
| EXOC4 | physical association | 0.000 | 1 |
| EXOC5 | physical association | 0.000 | 1 |
| EXOC6 | physical association | 0.000 | 1 |
| EXOC6B | physical association | 0.000 | 1 |
| EXOC7 | physical association | 0.000 | 1 |
| EXOC8 | physical association | 0.000 | 1 |
| RALB | physical association | 0.000 | 1 |
BioGRID (180 interactions; top human partners by supporting records): EXOC8 (Co-fractionation; 10 records), RALB (Affinity Capture-MS; 8 records), EXOC3 (Co-fractionation; 7 records), EXOC4 (Co-fractionation; 7 records), EXOC6 (Co-fractionation; 6 records), RALA (Co-crystal Structure; 6 records), EXOC1 (Co-fractionation; 5 records), EXOC5 (Co-fractionation; 4 records), EXOC7 (Co-fractionation; 4 records), BECN1 (Affinity Capture-Western; 3 records), BSG (Affinity Capture-MS; 3 records), APLNR (Affinity Capture-MS; 2 records), CHRM3 (Affinity Capture-MS; 2 records), EDNRB (Affinity Capture-MS; 2 records), EXOC6B (Affinity Capture-MS; 2 records)
SIGNOR signaling
2 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| EXOC2 | “form complex” | “Exocyst_EXOC6B variant” | binding |
| EXOC2 | “form complex” | “Exocyst_EXOC6 variant” | binding |
Protein complexes (CORUM) (1)
Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).
1 complexes by size:
| Complex | Subunits | Members |
|---|---|---|
| Exocyst complex | 8 | EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7, EXOC8 |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 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 |
|---|---|---|---|
| VxPx cargo-targeting to cilium | 7 | 363.4× | 4e-16 |
| Insulin processing | 7 | 319.8× | 6e-16 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 7 | 108.0× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Golgi to plasma membrane transport | 6 | 240.7× | 2e-12 |
| membrane fission | 8 | 234.9× | 1e-16 |
| mitotic cytokinesis | 8 | 148.2× | 4e-15 |
| exocytosis | 8 | 86.8× | 3e-13 |
Disease & clinical
Genetic variants
Variant evidence for EXOC2: 252 ClinVar records (4 pathogenic / likely pathogenic); 61 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
252 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 181 |
| Likely benign | 25 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (4)
Showing all 4 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 2506536 | GRCh37/hg19 6p25.3(chr6:491126-1624775) | Pathogenic | criteria provided, single submitter | 1 |
| 2685193 | GRCh37/hg19 6p25.3(chr6:647204-1716710)x1 | Pathogenic | criteria provided, single submitter | 1 |
| 1074298 | NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser) | Pathogenic | no assertion criteria provided | 1 |
| 443497 | GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore EXOC2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 3,502):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 6:491123–491124 | donor_loss | 1.0000 | 4 |
| 6:497365–497366 | donor_loss | 1.0000 | 4 |
| 6:497495 | acceptor_gain | 1.0000 | |
| 6:499701–499702 | acceptor_loss | 1.0000 | 6 |
| 6:499707 | acceptor_gain | 1.0000 | |
| 6:532468 | donor_loss | 1.0000 | |
| 6:532611–532612 | acceptor_loss | 1.0000 | 6 |
| 6:549173–549174 | donor_loss | 1.0000 | 5 |
| 6:553927 | acceptor_gain | 1.0000 | |
| 6:564544 | donor_loss | 1.0000 |
AlphaMissense
2,074 missense substitutions predicted likely pathogenic (of 6,088 scored), across 561 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| F284 | 8 | 0.991 | 0.999 |
| F321 | 8 | 0.989 | 0.998 |
| D305 | 8 | 0.988 | 0.998 |
| F282 | 8 | 0.985 | 1.000 |
| F313 | 8 | 0.974 | 0.997 |
| F257 | 8 | 0.969 | 0.998 |
| F165 | 8 | 0.960 | 0.997 |
| D268 | 8 | 0.953 | 0.996 |
| F90 | 8 | 0.948 | 0.997 |
| D300 | 8 | 0.943 | 0.989 |
| D368 | 8 | 0.943 | 0.992 |
| F466 | 8 | 0.915 | 0.993 |
| D37 | 8 | 0.908 | 0.965 |
| D265 | 8 | 0.898 | 0.985 |
| F502 | 8 | 0.894 | 0.982 |
| F213 | 8 | 0.889 | 0.971 |
| F451 | 8 | 0.875 | 0.978 |
| F212 | 8 | 0.872 | 0.991 |
| N293 | 8 | 0.867 | 0.993 |
| D217 | 8 | 0.863 | 0.970 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 1.11e-05 |
Disease associations
OMIM: gene MIM:615329 | disease phenotypes: MIM:619306
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | Moderate | Autosomal recessive | 2 |
ClinGen Gene-Disease Validity
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
1 validity classifications:
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | AR |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (4 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
4 panels:
| Panel | Rating |
|---|---|
| Hypotonic infant | amber |
| Intellectual disability | amber |
| Leukodystrophy, childhood onset | amber |
| Paediatric disorders | amber |
Mondo (1): neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (MONDO:0859141)
HPO phenotypes
37 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000300 | Oval face |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000340 | Sloping forehead |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000437 | Depressed nasal tip |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000958 | Dry skin |
| HP:0001250 | Seizure |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001371 | Flexion contracture |
| HP:0001629 | Ventricular septal defect |
| HP:0001747 | Accessory spleen |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002198 | Dilated fourth ventricle |
| HP:0002263 | Exaggerated cupid’s bow |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0002510 | Spastic tetraplegia |
| HP:0002870 | Obstructive sleep apnea |
| HP:0003429 | CNS hypomyelination |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0005484 | Secondary microcephaly |
| HP:0006610 | Wide intermamillary distance |
| HP:0007766 | Optic disc hypoplasia |
| HP:0010664 | Fusion of the left and right thalami |
| HP:0011344 | Severe global developmental delay |
| HP:0020206 | Simple ear |
| HP:0025386 | Bitemporal hollowing |
| HP:0030724 | Central nervous system cyst |
| HP:0031913 | Rhombencephalosynapsis |
GWAS associations
showing 30 of 61 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST006988_15 | Blond vs. brown/black hair color | 2e-59 |
| GCST006982_1 | Waldenström macroglobulinemia / lymphoplasmacytic lymphoma | 1e-54 |
| GCST003726_3 | Basal cell carcinoma | 1e-51 |
| GCST90013410_44 | Basal cell carcinoma | 1e-23 |
| GCST006989_29 | Brown vs. black hair color | 8e-22 |
| GCST002636_2 | Diffuse large B cell lymphoma | 2e-21 |
| GCST90013410_45 | Basal cell carcinoma | 4e-21 |
| GCST004606_97 | Eosinophil count | 5e-21 |
| GCST90002381_112 | Eosinophil count | 6e-20 |
| GCST004624_104 | Sum eosinophil basophil counts | 4e-19 |
| GCST000119_1 | Freckles | 4e-18 |
| GCST004600_167 | Eosinophil percentage of white cells | 8e-18 |
| GCST90002381_110 | Eosinophil count | 1e-17 |
| GCST004617_94 | Eosinophil percentage of granulocytes | 4e-17 |
| GCST004623_76 | Neutrophil percentage of granulocytes | 7e-16 |
| GCST006412_100 | Intraocular pressure | 1e-15 |
| GCST006065_33 | Glaucoma (primary open-angle) | 2e-15 |
| GCST90002382_193 | Eosinophil percentage of white cells | 4e-14 |
| GCST000371_4 | Tanning | 5e-14 |
| GCST90002382_464 | Eosinophil percentage of white cells | 7e-14 |
| GCST004142_23 | Melanoma | 9e-14 |
| GCST007896_1 | Primary central nervous system lymphoma | 2e-13 |
| GCST90002381_111 | Eosinophil count | 2e-13 |
| GCST005580_280 | Intraocular pressure | 3e-12 |
| GCST006394_83 | Intraocular pressure | 3e-12 |
| GCST90011766_4 | Glaucoma (primary open-angle) | 1e-11 |
| GCST005527_25 | Psoriasis | 2e-11 |
| GCST005580_211 | Intraocular pressure | 4e-11 |
| GCST009725_91 | Intraocular pressure | 5e-11 |
| GCST009724_27 | Vertical cup-disc ratio (multi-trait analysis) | 6e-11 |
EFO canonical traits (from GWAS)
12 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0003963 | freckles |
| EFO:0003924 | hair color |
| EFO:0004279 | suntan |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:1001017 | limited scleroderma |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0009944 | Antiglaucoma preparations and miotics use measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, affects methylation | 4 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| Cadmium | decreases expression, increases expression, decreases reaction | 2 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| kojic acid | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| asparanin A | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A9N7 | GIST-R5 | Cancer cell line | |
| CVCL_B1RN | Abcam HeLa EXOC2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | Phase 4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | Phase 4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | Phase 4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | Phase 4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | Phase 4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | Phase 4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | Phase 4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | Phase 4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | Phase 4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | Phase 4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | Phase 4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | Phase 4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | Phase 4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | Phase 4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | Phase 4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | Phase 4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | Phase 4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | Phase 4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | Phase 4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | Phase 4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | Phase 4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | Phase 4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | Phase 4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | Phase 4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | Phase 4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | Phase 4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | Phase 4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | Phase 4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | Phase 4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | Phase 4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | Phase 4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | Phase 4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | Phase 4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | Phase 4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | Phase 4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | Phase 4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | Phase 4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | Phase 4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | Phase 4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | Phase 4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
| NCT01673984 | Phase 4 | TERMINATED | GP Extended Action Triptorelin |
| NCT01753297 | Phase 4 | COMPLETED | A Study of Immediate 9 Months Adjuvant Hormone Therapy With Triptorelin 11.25 mg Versus Active Surveillance After Radical Prostatectomy in High Risk Prostate Cancer Patients. |
| NCT01794793 | Phase 4 | COMPLETED | Study to Allow Access to Pasireotide for Patients Benefiting From Pasireotide Treatment in Novartis-sponsored Studies |
| NCT01950871 | Phase 4 | TERMINATED | Prostate Guided Biopsy Study Evaluating the Diagnostic Performance of Prostate HistoScanning |
| NCT01995513 | Phase 4 | COMPLETED | Safety Study of Continued Enzalutamide Treatment In Prostate Cancer Patients |
| NCT02102646 | Phase 4 | COMPLETED | MRI Substudy; Metabolic Changes Due to Iatrogenic Hypogonadism |
| NCT02116582 | Phase 4 | COMPLETED | A Study to Evaluate Enzalutamide After Abiraterone in Metastatic Castration-Resistant Prostate Cancer |
| NCT02149628 | Phase 4 | COMPLETED | The Effect of Propofol Based Total Intravenous Anesthesia on Oxidative Stress and Nitric Oxide |
| NCT02405858 | Phase 4 | COMPLETED | A Study of Abiraterone Acetate in Metastatic Castration-Resistant Prostate Cancer Participants Who Responded Poorly to the First-line Combined Androgen Blockade Therapy |
| NCT02441517 | Phase 4 | TERMINATED | A Study of Enzalutamide Re-treatment in Metastatic Castration-resistant Prostate Cancer After Docetaxel and/or Cabazitaxel Treatment |
| NCT02441894 | Phase 4 | COMPLETED | Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer |
| NCT02475057 | Phase 4 | COMPLETED | Endothelial Function in Prostate Cancer Patients on Degarelix vs. Luteinizing Hormone-Releasing Hormone Agonists |
| NCT02511665 | Phase 4 | UNKNOWN | Metformin And Longevity |
| NCT02651948 | Phase 4 | COMPLETED | Transperineal, MRI-guided, Prostate Biopsy |
| NCT02721433 | Phase 4 | COMPLETED | 4-weekly Versus 12-weekly Administration of Bone-targeted Agents in Patients With Bone Metastases |
| NCT02726009 | Phase 4 | COMPLETED | A Trial to Evaluate Safety of Firmagon® (Degarelix) in Indian Patients Diagnosed With Advanced Hormone-dependent Prostate Cancer |
| NCT02749825 | Phase 4 | TERMINATED | Comparison of Trelstar Versus Lupron or Zoladex in Advanced Prostate Cancer |
| NCT02757365 | Phase 4 | UNKNOWN | Efficiency Study of Aspirin to Prevent the Occurrence of Prostate Cancer |
| NCT02773251 | Phase 4 | COMPLETED | The Effect of Guardix-solution for the Prevention of Postoperative Intestinal Adhesion and Intestinal Obstruction After Laparoscopic Pelvic Cavity Surgery |
| NCT02812186 | Phase 4 | COMPLETED | Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alopecia areata, amelogenesis imperfecta type 1F, Axenfeld-Rieger syndrome type 3, basal cell carcinoma, central nervous system non-hodgkin lymphoma, diffuse large B-cell lymphoma, glaucoma, hemorrhoid, melanoma, neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, open-angle glaucoma, Waldenstrom macroglobulinemia