SCG2
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Also known as CHGCSgIISN
Summary
SCG2 (secretogranin II, HGNC:10575) is a protein-coding gene on chromosome 2q36.1, encoding Secretogranin-2 (P13521). Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules.
The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown.
Source: NCBI Gene 7857 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 75 total
- MANE Select transcript:
NM_003469
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10575 |
| Approved symbol | SCG2 |
| Name | secretogranin II |
| Location | 2q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CHGC, SgII, SN |
| Ensembl gene | ENSG00000171951 |
| Ensembl biotype | protein_coding |
| OMIM | 118930 |
| Entrez | 7857 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000305409, ENST00000421386, ENST00000433889
RefSeq mRNA: 1 — MANE Select: NM_003469
NM_003469
CCDS: CCDS2457
Canonical transcript exons
ENST00000305409 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001147047 | 223596940 | 223599296 |
| ENSE00001741793 | 223602285 | 223602361 |
Expression profiles
Bgee: expression breadth ubiquitous, 216 present calls, max score 99.38.
FANTOM5 (CAGE): breadth broad, TPM avg 25.4013 / max 3624.6986, expressed in 644 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 34159 | 22.5001 | 633 |
| 34160 | 2.8201 | 242 |
| 34161 | 0.0602 | 16 |
| 34163 | 0.0166 | 5 |
| 34162 | 0.0043 | 1 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 99.38 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.24 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.69 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.43 | gold quality |
| pituitary gland | UBERON:0000007 | 98.30 | gold quality |
| hypothalamus | UBERON:0001898 | 98.28 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.08 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.54 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.51 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.26 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.20 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 96.69 | gold quality |
| endothelial cell | CL:0000115 | 96.62 | gold quality |
| pons | UBERON:0000988 | 96.52 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 96.49 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.46 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.19 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.14 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.04 | gold quality |
| frontal pole | UBERON:0002795 | 95.72 | gold quality |
| putamen | UBERON:0001874 | 95.70 | gold quality |
| cingulate cortex | UBERON:0003027 | 95.55 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.48 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.30 | gold quality |
| frontal cortex | UBERON:0001870 | 95.09 | gold quality |
| frontal lobe | UBERON:0016525 | 95.09 | gold quality |
| midbrain | UBERON:0001891 | 95.01 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 95.00 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9154 | yes | 5400.56 |
| E-CURD-114 | yes | 5112.32 |
| E-HCAD-31 | yes | 4463.90 |
| E-GEOD-137537 | yes | 2758.15 |
| E-GEOD-93593 | yes | 2012.51 |
| E-HCAD-25 | yes | 36.62 |
| E-GEOD-81547 | yes | 30.31 |
| E-MTAB-5061 | yes | 27.42 |
| E-GEOD-83139 | yes | 12.73 |
| E-ENAD-27 | yes | 9.88 |
| E-GEOD-125970 | yes | 8.26 |
| E-GEOD-84465 | yes | 6.73 |
| E-HCAD-10 | yes | 5.18 |
| E-GEOD-81608 | no | 7.97 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF4, CREB1, REST, TBP
miRNA regulators (miRDB)
81 targeting SCG2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
Literature-anchored findings (GeneRIF, showing 29)
- Transendothelial migration of leukocytes and signalling mechanisms in response to the neuropeptide secretoneurin. (PMID:11853870)
- secretogranin II-derived peptide EM66 generated in human tumoral chromaffin tissue; significant difference in EM66 concentrations between benign and malignant pheochromocytomas (PMID:12788858)
- the high concentration of secretoneurin in the aqueous humor indicates a significant role of this peptide (PMID:15572199)
- a variant of Secretogranin II has a role in regulation by PHOX2 transcription factors and in hypertension (PMID:17584765)
- Results suggest that secretogranin II represents a key AP-1-regulated protein that counteracts nitric oxide toxicity and mediates neuronal differentiation of neuroblastoma cells. (PMID:18239671)
- Increased concentrations of SgII, especially the N-terminal part of secretoneurin could be measured in plasma from patients with endocrine pancreatic tumours. (PMID:18448176)
- Suppression of Pdcd4 resulted in an increased release of CgA and Sg II and was accompanied by an up-regulation of intracellular PC1. (PMID:18549351)
- semiquantitative immunocytochemistry for secretogranin II in amyotrophic lateral sclerosis. (PMID:18721831)
- More SgII immunoreactive cells were observed in phaeochromocytomas. (PMID:20550951)
- This short review deals with investigations in neuroendocrine tumors (NETs) with antibodies against defined epitopes of chromogranins (Cgs) A and B and secretogranins (Sgs) II and III. (PMID:21046454)
- Manserin may serve as a marker of prostate cancer progression. (PMID:21803620)
- Data describe the gene expression and protein production of SgII in normal adrenal glands and pheochromocytomas with the goal to examine the molecular mechanisms leading to the marked variations in the expression of EM66 in tumoral chromaffin tissue. (PMID:22217803)
- Circulating Levels of SgII are Increased in Patients with chronic, stable heart failure. (PMID:22655045)
- In vivo secretoneurin improves left ventricular function, inhibits remodeling, and reduces scar formation; in the infarct border zone, secretoneurin induces coronary angiogenesis. (PMID:23081990)
- CgA, CgB, and secretoneurin are detectable in feces, and collagenous colitis patients express higher values than patients with inflammatory bowel disease and controls. In treatment, fecal secretoneurin decreased to control levels in collagenous colitis. (PMID:23423580)
- Topical secretoneurin gene therapy accelerates diabetic wound healing by interaction between heparan-sulfate proteoglycans and basic FGF. (PMID:23918206)
- SN induces MUC5AC hypersecretion in a dose- and time-dependent manner; moreover, the MUC5AC over synthesis induced by SN is strongly associated with the enhanced binding of EGF to NRP1 (PMID:24556756)
- present data show that SgII is highly expressed in advanced prostate cancer and may contribute to the neuroendocrine differentiation by promoting the formation of secretory granules and the proliferation of PCa cells. (PMID:25307750)
- Differential Reovirus-Specific and Herpesvirus-Specific Activator Protein 1 Activation of Secretogranin II Leads to Altered Virus Secretion. (PMID:26378181)
- serum levels of CgA, CgB, and SgII were determined in Parkinson’s disease patients and assessed their association with disease severity. (PMID:30887724)
- Secretogranin II impairs tumor growth and angiogenesis by promoting degradation of hypoxia-inducible factor-1alpha in colorectal cancer. (PMID:34160138)
- Nanoplasmonic immunosensor for the detection of SCG2, a candidate serum biomarker for the early diagnosis of neurodevelopmental disorder. (PMID:34815513)
- AGTR1, PLTP, and SCG2 associated with immune genes and immune cell infiltration in calcific aortic valve stenosis: analysis from integrated bioinformatics and machine learning. (PMID:35341274)
- SCG2: A Prognostic Marker That Pinpoints Chemotherapy and Immunotherapy in Colorectal Cancer. (PMID:35844556)
- Investigation of secretoneurin as a potential biomarker of brain injury in very preterm infants: A pilot study. (PMID:37023080)
- Promoting effect and immunologic role of secretogranin II on bladder cancer progression via regulating MAPK and NF-kappaB pathways. (PMID:37848672)
- [High expression of secretogranin II increases oxaliplatin resistance of colorectal cancer cells]. (PMID:37933640)
- Circulating secretoneurin level reflects angiographic coronary collateralization in stable angina patients with chronic total occlusion. (PMID:38184555)
- Prognostic value of plasma secretoneurin concentration in patients with heart failure with reduced ejection fraction in one-year follow-up. (PMID:38261566)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scg2b | ENSDARG00000038574 |
| mus_musculus | Scg2 | ENSMUSG00000050711 |
| rattus_norvegicus | Scg2 | ENSRNOG00000015055 |
Protein
Protein identifiers
Secretogranin-2 — P13521 (reviewed: P13521)
Alternative names: Chromogranin-C, Secretogranin II
All UniProt accessions (3): P13521, C9JDT0, C9JQI2
UniProt curated annotations — full annotation on UniProt →
Function. Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules.
Subunit / interactions. Interacts with Secretogranin III/SCG3.
Subcellular location. Secreted.
Post-translational modifications. O-glycosylated.
Miscellaneous. Binds calcium with a low-affinity.
Similarity. Belongs to the chromogranin/secretogranin protein family.
RefSeq proteins (1): NP_003460* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001990 | Granin | Family |
| IPR018054 | Chromogranin_CS | Conserved_site |
| IPR038858 | ScgII | Family |
Pfam: PF01271
UniProt features (25 total): modified residue 7, sequence variant 6, region of interest 4, compositionally biased region 2, peptide 2, signal peptide 1, propeptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13521-F1 | 58.07 | 0.12 |
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 (7): 151, 174, 268, 432, 532, 555, 556
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 268 (showing top):
ATF_B, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, MODULE_92, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOCC_SECRETORY_GRANULE, GOBP_INDUCTION_OF_POSITIVE_CHEMOTAXIS, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, CREBP1_Q2, GOBP_REGULATION_OF_POSITIVE_CHEMOTAXIS, GOBP_LEUKOCYTE_CHEMOTAXIS, CREB_Q4, MODULE_66, WEI_MYCN_TARGETS_WITH_E_BOX
GO Biological Process (13): MAPK cascade (GO:0000165), angiogenesis (GO:0001525), negative regulation of endothelial cell proliferation (GO:0001937), positive regulation of endothelial cell proliferation (GO:0001938), inflammatory response (GO:0006954), protein secretion (GO:0009306), intracellular signal transduction (GO:0035556), endothelial cell migration (GO:0043542), eosinophil chemotaxis (GO:0048245), positive chemotaxis (GO:0050918), induction of positive chemotaxis (GO:0050930), negative regulation of endothelial cell apoptotic process (GO:2000352), negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)
GO Molecular Function (3): cytokine activity (GO:0005125), chemoattractant activity (GO:0042056), protein binding (GO:0005515)
GO Cellular Component (6): obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), secretory granule (GO:0030141), neuronal dense core vesicle (GO:0098992), extracellular region (GO:0005576), dense core granule (GO:0031045)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endothelial cell proliferation | 2 |
| regulation of endothelial cell proliferation | 2 |
| receptor ligand activity | 2 |
| intracellular signaling cassette | 1 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| negative regulation of epithelial cell proliferation | 1 |
| positive regulation of epithelial cell proliferation | 1 |
| defense response | 1 |
| protein transport | 1 |
| secretion by cell | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| cell migration | 1 |
| granulocyte chemotaxis | 1 |
| eosinophil migration | 1 |
| chemotaxis | 1 |
| positive regulation of positive chemotaxis | 1 |
| negative regulation of apoptotic process | 1 |
| endothelial cell apoptotic process | 1 |
| regulation of endothelial cell apoptotic process | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| negative regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| positive chemotaxis | 1 |
| binding | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| endomembrane system | 1 |
| secretory vesicle | 1 |
| dense core granule | 1 |
| cellular anatomical structure | 1 |
| secretory granule | 1 |
Protein interactions and networks
STRING
1092 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCG2 | CHGB | P05060 | 972 |
| SCG2 | CHGA | P10645 | 939 |
| SCG2 | SCG3 | Q8WXD2 | 908 |
| SCG2 | SCG5 | P01164 | 826 |
| SCG2 | CPE | P16870 | 751 |
| SCG2 | PCSK1N | Q9UHG2 | 681 |
| SCG2 | VGF | O15240 | 674 |
| SCG2 | TAC1 | P20366 | 623 |
| SCG2 | NPY | P01303 | 557 |
| SCG2 | PENK | P01210 | 545 |
| SCG2 | SYP | P08247 | 544 |
| SCG2 | TAC3 | Q9UHF0 | 529 |
| SCG2 | STAT3 | P40763 | 511 |
| SCG2 | BMP8A | Q7Z5Y6 | 497 |
| SCG2 | ATP10A | O60312 | 490 |
| SCG2 | BMP8B | P34820 | 490 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SCG2 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SCG2 | ATRIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCG3 | SCG2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SCG2 | PIK3R1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCG2 | PLEC | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCG2 | DCAF6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TUBB4B | SCG2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBQLN1 | SCG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNF | SCG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCHIP1 | SCG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NRIP1 | SCG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBQLN4 | SCG2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): ATRIP (Two-hybrid), SCG2 (Two-hybrid), SCG2 (Affinity Capture-MS), SCG2 (Two-hybrid), PLEC (Proximity Label-MS), SCG2 (Affinity Capture-RNA), DCAF6 (Affinity Capture-MS), SCG2 (Affinity Capture-MS), SCG2 (PCA), SCG2 (Affinity Capture-MS), SCG2 (Two-hybrid), HSP90AA1 (Cross-Linking-MS (XL-MS)), HSP90AB1 (Cross-Linking-MS (XL-MS)), TRMT1 (Cross-Linking-MS (XL-MS)), SCG2 (Affinity Capture-MS)
ESM2 similar proteins: A0JMK6, A5A6J6, B9WZ56, C0HKY1, C0HM54, E1ZXU8, O12956, O35314, O35417, O70176, P01165, P01282, P01362, P05060, P05408, P06300, P06308, P10362, P12285, P12961, P13521, P13589, P16014, P16613, P17685, P17686, P18509, P18844, P20616, P23389, P27682, P30945, P41534, P41535, P41585, P45644, P48143, P48144, P81401, P85799
Diamond homologs: P10362, P13521, P20616, P30945, Q03517, Q4R5E9, Q5FZP5, Q5R4M6, A0JMK6, C0HM54
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
452 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:223602279:CCTTA:C | donor_loss | 1.0000 |
| 2:223602280:CTTA:C | donor_loss | 1.0000 |
| 2:223602281:TTA:T | donor_loss | 1.0000 |
| 2:223602282:TA:T | donor_loss | 1.0000 |
| 2:223602283:A:AC | donor_gain | 1.0000 |
| 2:223602284:C:CC | donor_gain | 1.0000 |
| 2:223602284:CCT:C | donor_gain | 1.0000 |
| 2:223599293:TTTC:T | acceptor_gain | 0.9900 |
| 2:223599296:CC:C | acceptor_loss | 0.9900 |
| 2:223599296:CCT:C | acceptor_gain | 0.9900 |
| 2:223599297:C:CC | acceptor_gain | 0.9900 |
| 2:223599298:T:C | acceptor_gain | 0.9900 |
| 2:223602283:ACCT:A | donor_gain | 0.9900 |
| 2:223602284:CCTC:C | donor_gain | 0.9900 |
| 2:223602284:CCTCT:C | donor_gain | 0.9900 |
| 2:223599297:C:T | acceptor_gain | 0.9800 |
| 2:223602283:AC:A | donor_gain | 0.9800 |
| 2:223602284:CC:C | donor_gain | 0.9800 |
| 2:223602286:T:TA | donor_gain | 0.9800 |
| 2:223599292:ATTTC:A | acceptor_gain | 0.9700 |
| 2:223599298:T:TC | acceptor_gain | 0.9700 |
| 2:223600042:CGTG:C | acceptor_gain | 0.9700 |
| 2:223599294:TTC:T | acceptor_gain | 0.9600 |
| 2:223599305:A:C | acceptor_gain | 0.9600 |
| 2:223599295:TC:T | acceptor_gain | 0.9500 |
| 2:223602140:A:AC | donor_gain | 0.9500 |
| 2:223602141:C:CC | donor_gain | 0.9500 |
| 2:223600012:C:CC | acceptor_gain | 0.9400 |
| 2:223599213:C:CT | acceptor_gain | 0.9200 |
| 2:223599213:C:T | acceptor_gain | 0.9200 |
AlphaMissense
4134 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:223598685:A:G | S200P | 0.998 |
| 2:223598690:A:G | L198S | 0.998 |
| 2:223598697:C:G | A196P | 0.998 |
| 2:223598699:A:G | L195P | 0.998 |
| 2:223598681:A:T | V201D | 0.996 |
| 2:223598696:G:T | A196D | 0.996 |
| 2:223598669:A:G | L205P | 0.994 |
| 2:223598231:A:G | L351P | 0.993 |
| 2:223598533:C:A | W250C | 0.993 |
| 2:223598533:C:G | W250C | 0.993 |
| 2:223598678:A:G | F202S | 0.993 |
| 2:223598699:A:T | L195H | 0.993 |
| 2:223598742:G:T | R181S | 0.993 |
| 2:223599089:A:G | L65P | 0.992 |
| 2:223598743:T:A | K180N | 0.991 |
| 2:223598743:T:G | K180N | 0.991 |
| 2:223598535:A:G | W250R | 0.990 |
| 2:223598535:A:T | W250R | 0.990 |
| 2:223598704:T:A | Q193H | 0.990 |
| 2:223598704:T:G | Q193H | 0.990 |
| 2:223598934:C:G | A117P | 0.990 |
| 2:223598189:A:G | L365S | 0.989 |
| 2:223598677:G:C | F202L | 0.989 |
| 2:223598677:G:T | F202L | 0.989 |
| 2:223598678:A:C | F202C | 0.989 |
| 2:223598679:A:G | F202L | 0.989 |
| 2:223599111:C:G | A58P | 0.985 |
| 2:223598714:T:C | Y190C | 0.984 |
| 2:223598732:T:A | E184V | 0.984 |
| 2:223598741:C:G | R181P | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000064865 (2:223603204 A>T), RS1000188768 (2:223600246 G>T), RS1000998095 (2:223601899 A>C,G), RS1001743708 (2:223599891 C>G), RS1002207653 (2:223597802 T>C), RS1002307513 (2:223603030 G>A), RS1003367778 (2:223597849 A>C,T), RS1003472685 (2:223599630 T>C), RS1003852381 (2:223599296 C>A,T), RS1004702550 (2:223604297 G>A,C), RS1005092013 (2:223604256 ACT>A), RS1005112853 (2:223597007 T>A), RS1005777171 (2:223600503 A>C), RS1005830771 (2:223601367 C>A), RS1006783707 (2:223602576 G>A,T)
Disease associations
OMIM: gene MIM:118930 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000575_1 | Osteoporosis-related phenotypes | 4.000000e-06 |
| GCST001325_2 | Response to hepatitis C treatment | 3.000000e-06 |
| GCST002794_14 | Airway wall thickness | 5.000000e-08 |
| GCST002794_5 | Airway wall thickness | 9.000000e-06 |
| GCST002794_8 | Airway wall thickness | 2.000000e-06 |
| GCST003542_31 | Night sleep phenotypes | 5.000000e-06 |
| GCST006032_4 | Sodium levels | 4.000000e-13 |
| GCST006186_4 | Systolic blood pressure x smoking status (current vs non-current) interaction (1df test) | 4.000000e-06 |
| GCST006193_92 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 1.000000e-07 |
| GCST006195_83 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 2.000000e-09 |
| GCST006427_35 | Depression in smokers | 5.000000e-06 |
| GCST011685_1 | Fasting plasma glucose | 7.000000e-07 |
| GCST012303_6 | Recurrent major depressive disorder x sex interaction | 6.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006898 | airway wall thickness measurement |
| EFO:0009282 | sodium measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 3 |
| bisphenol A | increases expression, increases methylation | 2 |
| Cisplatin | decreases expression, increases reaction, affects expression | 2 |
| Fluorouracil | decreases expression, increases expression, affects response to substance | 2 |
| Nickel | increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| rutecarpine | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression, increases reaction | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Wortmannin | decreases activity | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | increases expression | 1 |
| Lead | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1UA | Abcam U-87MG SCG2 KO | Cancer cell line | Male |
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): chronic hepatitis C virus infection, major depressive disorder, osteoporosis