SCGN
geneOn this page
Also known as SECRETDJ501N12.8SEGNCALBL
Summary
SCGN (secretagogin, EF-hand calcium binding protein, HGNC:16941) is a protein-coding gene on chromosome 6p22.2, encoding Secretagogin (O76038).
The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation.
Source: NCBI Gene 10590 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ulcerative colitis (Moderate, GenCC)
- GWAS associations: 43
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_006998
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16941 |
| Approved symbol | SCGN |
| Name | secretagogin, EF-hand calcium binding protein |
| Location | 6p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SECRET, DJ501N12.8, SEGN, CALBL |
| Ensembl gene | ENSG00000079689 |
| Ensembl biotype | protein_coding |
| OMIM | 609202 |
| Entrez | 10590 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay
ENST00000377961, ENST00000612225, ENST00000968674
RefSeq mRNA: 1 — MANE Select: NM_006998
NM_006998
CCDS: CCDS4561
Canonical transcript exons
ENST00000377961 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000694583 | 25653382 | 25653452 |
| ENSE00001692102 | 25701207 | 25701783 |
| ENSE00001957856 | 25652215 | 25652485 |
| ENSE00001976132 | 25681951 | 25682006 |
| ENSE00003463585 | 25669999 | 25670076 |
| ENSE00003471790 | 25691056 | 25691124 |
| ENSE00003474558 | 25661552 | 25661644 |
| ENSE00003535115 | 25669511 | 25669567 |
| ENSE00003552963 | 25689172 | 25689217 |
| ENSE00003605250 | 25689473 | 25689532 |
| ENSE00003650292 | 25664943 | 25665032 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.17.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.1643 / max 220.6894, expressed in 138 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66436 | 0.8648 | 111 |
| 66437 | 0.2995 | 69 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 99.17 | gold quality |
| type B pancreatic cell | CL:0000169 | 95.97 | gold quality |
| pancreas | UBERON:0001264 | 93.02 | gold quality |
| body of pancreas | UBERON:0001150 | 92.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.47 | gold quality |
| rectum | UBERON:0001052 | 87.63 | gold quality |
| pituitary gland | UBERON:0000007 | 87.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.36 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.36 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.27 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.29 | gold quality |
| cerebellum | UBERON:0002037 | 86.20 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.31 | gold quality |
| cerebellar vermis | UBERON:0004720 | 81.42 | gold quality |
| paraflocculus | UBERON:0005351 | 79.85 | gold quality |
| right atrium auricular region | UBERON:0006631 | 79.82 | gold quality |
| sigmoid colon | UBERON:0001159 | 79.39 | gold quality |
| transverse colon | UBERON:0001157 | 79.27 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.48 | gold quality |
| cardiac atrium | UBERON:0002081 | 78.31 | gold quality |
| colon | UBERON:0001155 | 78.17 | gold quality |
| large intestine | UBERON:0000059 | 78.14 | gold quality |
| intestine | UBERON:0000160 | 76.98 | gold quality |
| hypothalamus | UBERON:0001898 | 75.79 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 75.70 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 74.84 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 74.18 | gold quality |
| ventricular zone | UBERON:0003053 | 73.51 | gold quality |
| small intestine | UBERON:0002108 | 73.50 | gold quality |
| duodenum | UBERON:0002114 | 73.37 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 2480.29 |
| E-ENAD-27 | yes | 2189.74 |
| E-GEOD-125970 | yes | 711.48 |
| E-MTAB-9906 | yes | 617.32 |
| E-MTAB-8410 | yes | 497.33 |
| E-CURD-46 | yes | 192.47 |
| E-GEOD-81547 | yes | 13.77 |
| E-GEOD-83139 | yes | 13.06 |
| E-CURD-114 | yes | 12.25 |
| E-GEOD-81608 | no | 2305.79 |
| E-HCAD-31 | no | 24.93 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting SCGN, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-634 | 97.74 | 67.11 | 818 |
| HSA-MIR-4670-3P | 97.37 | 68.35 | 1378 |
Literature-anchored findings (GeneRIF, showing 19)
- Secretagogin might play a role in human non-functional pituitary adenomas. This novel finding may provide clues to clarify the basic molecular mechanisms of pituitary adenoma formation, and to identify new tumor-related markers. (PMID:15237930)
- two new variants of the recently identified hexa-EF-hand calcium binding protein secretagogin (PMID:15766553)
- We identified and characterized promoter activity of a human 1498 bp secretagogin sequence upstream the transcription start site. (PMID:17083620)
- Results emphasize the developmentally shared origins of neurons populating the extended amygdala, and suggest that secretagogin can be relevant to the generation of functional modalities in specific neuronal circuitries. (PMID:20529129)
- Ddetection of novel calcium-binding protein secretagogin within subgroup of clear-cell renal cell carcinomas. Increased metastasis rates within secretagogin-positive subgroup of clear-cell renal cell carcinomas. (PMID:21288557)
- Levels of secretagogin correlate with mortality and are useful as predictors of outcome in children with traumatic brain injury. (PMID:21976236)
- Data show that the density of secretagogin-positive neurons selectively decreases in the olfactory tract in Alzheimer’s disease. (PMID:22474393)
- While secretagogin mRNA was detected in both peripheral mononuclear cells and erythrocytes using reverse-transcription polymerase chain reaction, SCGN protein was only detected in erythrocytes. (PMID:22921511)
- Scgn is a CaBP expressed in a subpopulation of nociceptive DRG neurons and their processes in the dorsal horn. (PMID:23102406)
- These results suggest SCGN is involved in the chemoresistance of small cell lung cancer under the regulation of miR-494 (PMID:25226615)
- Secretagogin-dependent MMP2 release from neurons regulates neuroblast migration. (PMID:28223495)
- Glucose-dependent de-SUMOylation of tomosyn1 at K298 releases syntaxin1A and controls the amplification of exocytosis in concert with a recently-identified tomosyn1-interacting partner; the Ca(2+)-binding protein secretagogin, which dissociates from tomosyn1 in response to Ca(2+)-raising stimuli and is required for insulin granule trafficking and exocytosis downstream of Ca(2+) influx. (PMID:28325894)
- The low SCGN plasma levels in children with ASD probably indicate that SCGN might be implicated in the pathogenesis of autism. However, these data should be treated with caution until further investigations are performed using larger sample sizes to determine whether the decrease in plasma SCGN levels is a mere consequence of autism or it plays a pathogenic role in the disease. (PMID:28492151)
- Therefore, and considering the desensitization of TRPV1s in diabetic pancreata, a TRPV1-to-secretagogin regulatory axis seems critical to maintain the structural integrity and signal competence of beta-cells. (PMID:28637794)
- the overexpression of SCGN in SW480 human colorectal cancer cells promoted cell apoptosis and inhibited cell migration and invasion. (PMID:29499408)
- secretagogin is a potential biomarker, reflecting stress and islet cell dysfunction in T2D patients (PMID:29702679)
- Differential expression of secretagogin immunostaining in the hippocampal formation and the entorhinal and perirhinal cortices of humans, rats, and mice. (PMID:31512254)
- In this study, the authors report the identification of an ultrarare missense variant (NM_006998.3:c.230G > A;p.Arg77His) in the SCGN gene causing Mendelian early-onset ulcerative colitis. (PMID:31663849)
- SCGN deficiency is a risk factor for autism spectrum disorder. (PMID:36588101)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scgn | ENSDARG00000058732 |
| mus_musculus | Scgn | ENSMUSG00000021337 |
| rattus_norvegicus | Scgn | ENSRNOG00000016628 |
| drosophila_melanogaster | Cbp53E | FBGN0004580 |
Paralogs (2): CALB1 (ENSG00000104327), CALB2 (ENSG00000172137)
Protein
Protein identifiers
Secretagogin — O76038 (reviewed: O76038)
All UniProt accessions (2): O76038, Q96P10
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Secreted. Cytoplasmic vesicle. Secretory vesicle membrane.
Tissue specificity. Expressed at high levels in the pancreatic islets of Langerhans and to a much lesser extent in the gastrointestinal tract (stomach, small intestine and colon), the adrenal medulla and cortex and the thyroid C-cells. In the brain, the expression is restricted to distinct subtypes of neurons with highest expression in the molecular layer of the cerebellum (stellate and basket cells), in the anterior part of the pituitary gland, in the thalamus, in the hypothalamus and in a subgroup of neocortical neurons.
RefSeq proteins (1): NP_008929* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR035798 | EFh_SCGN | Domain |
| IPR051001 | Calbindin_Ca-bind | Family |
Pfam: PF13202, PF13499
UniProt features (58 total): binding site 27, helix 16, domain 6, strand 5, chain 1, sequence variant 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8BAV | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O76038-F1 | 78.15 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (27): 36; 71; 73; 75; 77; 82; 118; 120; 122; 129; 162; 164 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, CERVERA_SDHB_TARGETS_1_DN, TAL1ALPHAE47_01, MODULE_379, SABATES_COLORECTAL_ADENOMA_DN, GOCC_NEURON_PROJECTION, MODULE_242, TAL1BETAE47_01, GOCC_NEURON_PROJECTION_TERMINUS, MODULE_104, GOCC_SYNAPSE, GOCC_PRESYNAPSE, GOCC_SOMATODENDRITIC_COMPARTMENT, GOCC_TERMINAL_BOUTON, GOCC_AXON
GO Biological Process (0):
GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (10): extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), dendrite (GO:0030425), transport vesicle membrane (GO:0030658), terminal bouton (GO:0043195), synapse (GO:0045202), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| transport vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| axon terminus | 1 |
| presynapse | 1 |
| cell junction | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
2358 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCGN | TAC1 | P20366 | 699 |
| SCGN | MLF2 | Q15773 | 629 |
| SCGN | DOC2A | Q14183 | 618 |
| SCGN | SNAP23 | O00161 | 596 |
| SCGN | CROCC | Q5TZA2 | 582 |
| SCGN | DDAH2 | O95865 | 578 |
| SCGN | ARFGAP2 | Q8N6H7 | 576 |
| SCGN | CHGA | P10645 | 557 |
| SCGN | NHLRC1 | Q6VVB1 | 543 |
| SCGN | VSX1 | Q9NZR4 | 540 |
| SCGN | MAGI3 | Q5TCQ9 | 516 |
| SCGN | INS | P01308 | 503 |
| SCGN | ANAPC7 | Q9UJX3 | 496 |
| SCGN | PVALB | P20472 | 489 |
| SCGN | KIF5B | P33176 | 489 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SCGN | ABI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGN | SNAP23 | psi-mi:“MI:0914”(association) | 0.550 |
| SNAP23 | SCGN | psi-mi:“MI:0915”(physical association) | 0.550 |
| Snap25 | SCGN | psi-mi:“MI:0915”(physical association) | 0.460 |
| Snap25 | SCGN | psi-mi:“MI:0403”(colocalization) | 0.460 |
| SCGN | MAPK3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIP4P1 | SCGN | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCGN | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| EBLN2 | SCGN | psi-mi:“MI:0914”(association) | 0.350 |
| OSR2 | SCGN | psi-mi:“MI:0914”(association) | 0.350 |
| CD40 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| ABI2 | SCGN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (121): ATF7 (Affinity Capture-MS), ATF2 (Affinity Capture-MS), ZMYM4 (Affinity Capture-MS), GOLGB1 (Affinity Capture-MS), CROCC (Affinity Capture-MS), KIF14 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), OPA1 (Affinity Capture-MS), CDC23 (Affinity Capture-MS), RANBP2 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), ESYT1 (Affinity Capture-MS), SNAP23 (Affinity Capture-MS), DOC2A (Affinity Capture-MS), BBX (Affinity Capture-MS)
ESM2 similar proteins: A5PJN0, A8J3A0, F1SSF9, O73763, O76038, O81223, O81445, O93409, P02613, P04113, P05938, P05944, P05963, P08051, P08052, P13543, P18087, P30644, P45961, Q01449, Q02045, Q06A97, Q0P571, Q0VFG3, Q10131, Q3HRN7, Q3HRN9, Q3HRP0, Q3HRP2, Q3HRP5, Q3MHP3, Q5QIT3, Q5XJX1, Q63ZJ3, Q6R556, Q75KU4, Q7XC27, Q8CD10, Q8IYU8, Q8LAS7
Diamond homologs: A5PJN0, O76038, P04354, P04467, P05937, P07090, P07171, P12658, P22676, P41044, P47728, Q06A97, Q08331, Q0VFG3, Q25088, Q3ZBY3, Q5R4V1, Q5XJX1, Q63ZJ3, Q6R556, Q91WD9, Q9U6D3, D2DGW3, P05939, P20658, P25070, Q11083, Q1A7B1, Q91482, D3GME4, P05941, P47948, P59747, P86741, P86743, Q1A7B2, Q1A7B3, Q3C2C4, O35508, P02615
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1150 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:25652481:GGATG:G | donor_gain | 1.0000 |
| 6:25652482:GATG:G | donor_gain | 1.0000 |
| 6:25652482:GATGG:G | donor_gain | 1.0000 |
| 6:25652484:TGG:T | donor_loss | 1.0000 |
| 6:25652486:G:GA | donor_loss | 1.0000 |
| 6:25652487:T:A | donor_loss | 1.0000 |
| 6:25652488:GAGTA:G | donor_loss | 1.0000 |
| 6:25653453:G:GG | donor_gain | 1.0000 |
| 6:25661641:AGAGG:A | donor_loss | 1.0000 |
| 6:25661642:G:GT | donor_gain | 1.0000 |
| 6:25661642:GAG:G | donor_gain | 1.0000 |
| 6:25661643:AGG:A | donor_loss | 1.0000 |
| 6:25661644:GGTA:G | donor_loss | 1.0000 |
| 6:25661645:G:GC | donor_loss | 1.0000 |
| 6:25661646:T:A | donor_loss | 1.0000 |
| 6:25664938:TTCA:T | acceptor_loss | 1.0000 |
| 6:25664939:TCA:T | acceptor_loss | 1.0000 |
| 6:25664940:CAG:C | acceptor_loss | 1.0000 |
| 6:25664941:A:AG | acceptor_gain | 1.0000 |
| 6:25664941:AGCTT:A | acceptor_gain | 1.0000 |
| 6:25664942:G:GA | acceptor_gain | 1.0000 |
| 6:25664942:G:T | acceptor_loss | 1.0000 |
| 6:25664942:GC:G | acceptor_gain | 1.0000 |
| 6:25664942:GCT:G | acceptor_gain | 1.0000 |
| 6:25664942:GCTT:G | acceptor_gain | 1.0000 |
| 6:25664942:GCTTG:G | acceptor_gain | 1.0000 |
| 6:25665030:CAGG:C | donor_loss | 1.0000 |
| 6:25665031:AGG:A | donor_loss | 1.0000 |
| 6:25669505:TTTCA:T | acceptor_loss | 1.0000 |
| 6:25669506:TTCAG:T | acceptor_loss | 1.0000 |
AlphaMissense
1877 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:25691099:T:A | V226D | 0.993 |
| 6:25701286:T:C | I261T | 0.993 |
| 6:25701286:T:G | I261S | 0.991 |
| 6:25691096:T:C | F225S | 0.989 |
| 6:25689515:T:C | F206L | 0.986 |
| 6:25689517:T:A | F206L | 0.986 |
| 6:25689517:T:G | F206L | 0.986 |
| 6:25701286:T:A | I261N | 0.985 |
| 6:25701301:T:C | L266P | 0.985 |
| 6:25669563:T:C | L130P | 0.984 |
| 6:25669514:T:A | W114R | 0.980 |
| 6:25669514:T:C | W114R | 0.980 |
| 6:25689194:T:C | F184L | 0.978 |
| 6:25689196:C:A | F184L | 0.978 |
| 6:25689196:C:G | F184L | 0.978 |
| 6:25701309:T:C | C269R | 0.977 |
| 6:25681985:T:C | L169S | 0.975 |
| 6:25691072:T:C | L217P | 0.973 |
| 6:25691103:A:C | K227N | 0.973 |
| 6:25691103:A:T | K227N | 0.973 |
| 6:25691105:A:C | D228A | 0.973 |
| 6:25691104:G:C | D228H | 0.972 |
| 6:25689206:T:C | F188L | 0.971 |
| 6:25689208:T:A | F188L | 0.971 |
| 6:25689208:T:G | F188L | 0.971 |
| 6:25689503:T:C | F202L | 0.971 |
| 6:25689505:T:A | F202L | 0.971 |
| 6:25689505:T:G | F202L | 0.971 |
| 6:25691105:A:T | D228V | 0.971 |
| 6:25669518:G:C | R115P | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000164684 (6:25671174 T>C), RS1000230399 (6:25679859 C>A,T), RS1000237550 (6:25654401 C>T), RS1000321046 (6:25700169 C>T), RS1000365096 (6:25661724 T>C), RS1000373528 (6:25699978 G>A), RS1000431346 (6:25684742 A>T), RS1000472755 (6:25699292 A>G), RS1000514280 (6:25652881 C>T), RS1000619640 (6:25692871 A>G), RS1000782520 (6:25655330 T>C), RS1000803310 (6:25673800 A>C,G), RS1000837414 (6:25681401 A>C), RS1000878042 (6:25664589 G>A), RS1001025104 (6:25667514 C>A,T)
Disease associations
OMIM: gene MIM:609202 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ulcerative colitis | Moderate | Autosomal recessive |
Mondo (1): ulcerative colitis (MONDO:0005101)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
43 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000301_19 | Iron status biomarkers | 9.000000e-06 |
| GCST000418_4 | Uric acid levels | 9.000000e-09 |
| GCST004521_169 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_69 | Autism spectrum disorder or schizophrenia | 8.000000e-24 |
| GCST004521_83 | Autism spectrum disorder or schizophrenia | 1.000000e-13 |
| GCST004570_5 | Iron status biomarkers (iron levels) | 4.000000e-09 |
| GCST004571_21 | Iron status biomarkers (total iron binding capacity) | 4.000000e-14 |
| GCST004572_2 | Iron status biomarkers (transferrin saturation) | 4.000000e-14 |
| GCST004749_110 | Lung cancer in ever smokers | 1.000000e-07 |
| GCST004750_79 | Squamous cell lung carcinoma | 3.000000e-10 |
| GCST004765_13 | Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 5.000000e-07 |
| GCST005287_5 | Intrinsic epigenetic age acceleration | 2.000000e-10 |
| GCST005926_3 | Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma | 8.000000e-08 |
| GCST006945_9 | Feeling guilty | 8.000000e-09 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010135_12 | Oily fish consumption | 7.000000e-11 |
| GCST010135_15 | Oily fish consumption | 2.000000e-10 |
| GCST010135_16 | Oily fish consumption | 2.000000e-10 |
| GCST010135_21 | Oily fish consumption | 4.000000e-10 |
| GCST010135_35 | Oily fish consumption | 8.000000e-09 |
| GCST010135_6 | Oily fish consumption | 7.000000e-15 |
| GCST010135_8 | Oily fish consumption | 2.000000e-12 |
| GCST010140_13 | Pork consumption | 4.000000e-10 |
| GCST010140_25 | Pork consumption | 8.000000e-09 |
| GCST010140_4 | Pork consumption | 7.000000e-11 |
| GCST010140_50 | Pork consumption | 7.000000e-15 |
| GCST010140_52 | Pork consumption | 2.000000e-12 |
| GCST010140_7 | Pork consumption | 2.000000e-10 |
| GCST010140_8 | Pork consumption | 2.000000e-10 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004461 | iron biomarker measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0006334 | total iron binding capacity |
| EFO:0007806 | total cholesterol change measurement |
| EFO:0000473 | epigenetic status |
| EFO:0022597 | aging |
| EFO:0005843 | cortisol measurement |
| EFO:0009175 | response to synacthen |
| EFO:0009595 | guilt measurement |
| EFO:0008111 | diet measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007985 | platelet crit |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003093 | Colitis, Ulcerative | C06.405.205.265.231; C06.405.205.731.249; C06.405.469.158.188.231; C06.405.469.432.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 4 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| sodium arsenite | affects methylation, affects binding, increases reaction | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| diisononyl phthalate | affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| lead nitrate | affects cotreatment, increases expression | 1 |
| butylbenzyl phthalate | affects cotreatment, increases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Troglitazone | increases expression | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Panobinostat | increases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | affects cotreatment, increases expression | 1 |
| Endosulfan | affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Mercury | affects cotreatment, increases expression | 1 |
| Rotenone | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00167882 | PHASE4 | COMPLETED | The Influence of 5-Aminosalicylates on Thiopurine Metabolite Levels |
| NCT00194818 | PHASE4 | COMPLETED | Asacol Dosing Study for Active Ulcerative Colitis |
| NCT00209287 | PHASE4 | TERMINATED | Study of Effects and of Modifications in Apoptosis Regulators Observed After Stopping 5-ASA Treatment in Patients With Inactive Ulcerative Colitis |
| NCT00219414 | PHASE4 | COMPLETED | Study for the Treatment of Ulcerative Colitis With Adacolumn (Companion to US Study 512-04-205) |
| NCT00446849 | PHASE4 | COMPLETED | Strategies in Maintenance for Patients Receiving Long-term Therapy (S.I.M.P.L.E.) With MMX (Multi-Matrix System) Mesalamine for Ulcerative Colitis (UC) |
| NCT00542152 | PHASE4 | COMPLETED | Study Comparing Cyclosporine With Infliximab in Steroid-refractory Severe Attacks of Ulcerative Colitis |
| NCT00652145 | PHASE4 | COMPLETED | Dose Escalation and Remission (DEAR) |
| NCT00702611 | PHASE4 | TERMINATED | Efficacy Study of Granulocytapheresis Plus Steroids vs Steroids Alone in Active Steroid Dependant Ulcerative Colitis |
| NCT00947674 | PHASE4 | TERMINATED | A Study of Leukocytapheresis (LCAP) in Patients With Ulcerative Colitis (UC) |
| NCT01078935 | PHASE4 | UNKNOWN | The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation, Endothelial Function, and Markers of Inflammation |
| NCT01124149 | PHASE4 | COMPLETED | Ability to Maintain or Achieve Clinical and Endoscopic Remission With MMX Mesalamine Once Daily in Adults With Ulcerative Colitis |
| NCT01341808 | PHASE4 | COMPLETED | Immunogenicity of Hepatitis A Vaccine in Inflammatory Bowel Disease (IBD) Patients |
| NCT01346826 | PHASE4 | COMPLETED | Safety of Accelerated Infliximab Infusions in Patients With Inflammatory Bowel Disease (IBD) |
| NCT01408810 | PHASE4 | COMPLETED | Evaluation of Histologic and Endoscopic Remission Induced by Infliximab in Moderate to Severe Ulcerative Colitis |
| NCT01418131 | PHASE4 | COMPLETED | Rectal Tacrolimus in the Treatment of Resistant Ulcerative Proctitis |
| NCT01479660 | PHASE4 | UNKNOWN | Role of Healthy Bacteria in Ulcerative Colitis |
| NCT01536535 | PHASE4 | COMPLETED | Predicting Response to Standardized Pediatric Colitis Therapy |
| NCT01678911 | PHASE4 | TERMINATED | Efficacy of Gralise® for Chronic Pelvic Pain |
| NCT01772615 | PHASE4 | COMPLETED | Treatment of Ulcerative Colitis With Ciprofloxacin and E. Coli Nissle |
| NCT01882426 | PHASE4 | TERMINATED | Care Path for the Management of Ulcerative Colitis |
| NCT01941589 | PHASE4 | COMPLETED | Corticosteroids+5-aminosalicylic Acid Compared to Corticosteroids in the Treatment of Moderate-severe Ulcerative Colitis |
| NCT01960426 | PHASE4 | TERMINATED | Evaluation of Health Costs and Resource Utilization |
| NCT01991314 | PHASE4 | COMPLETED | Treatment of Iron Deficiency Anaemia in Inflammatory Bowel Disease With Ferrous Sulphate |
| NCT02092285 | PHASE4 | COMPLETED | Golimumab Utilization and Impact on Ulcerative Colitis (MK-8259-032) |
| NCT02148640 | PHASE4 | COMPLETED | The NOR-SWITCH Study |
| NCT02155335 | PHASE4 | COMPLETED | Preference for a Prefilled Syringe or Smartject™ Device for Delivering Golimumab in Participants Suffering From Moderate-to-severe Ulcerative Colitis (MK-8259-027) |
| NCT02186886 | PHASE4 | UNKNOWN | Physiological Intermolecular Modification Spectroscopy (PIMS) in Ulcerative Colitis With Golimumab |
| NCT02345733 | PHASE4 | COMPLETED | Use of a Novel Diet (UC DIET) for Treatment of Mild to Moderate Active Pediatric Ulcerative Colitis |
| NCT02425852 | PHASE4 | COMPLETED | A Randomized, Multicenter Open Label Study Comparing Early Administration of Azathioprine Plus IFX to Steroids Plus Azathioprine for Acute Severe Colitis |
| NCT02425865 | PHASE4 | COMPLETED | Intensive Treatment to Reach the Target With Golimumab in ulcErative coliTis - In-TARGET |
| NCT02465385 | PHASE4 | COMPLETED | Single-dose Linaclotide for Capsule Endoscopy Preparation |
| NCT02579733 | PHASE4 | TERMINATED | Azathioprine Based on Endoscopy After Clinical Remission in Moderate to Severe Ulcerative Colitis |
| NCT02770040 | PHASE4 | COMPLETED | Optimising Infliximab Induction Therapy for Acute Severe Ulcerative Colitis |
| NCT02910375 | PHASE4 | UNKNOWN | Golimumab Dried Blood Spot Analysis |
| NCT02921555 | PHASE4 | TERMINATED | Endovenous Corticosteroid Pulses in Moderate Ulcerative Colitis |
| NCT02962245 | PHASE4 | WITHDRAWN | Efficacy of Treatment With Berberine to Maintain Remission in Ulcerative Colitis |
| NCT02994836 | PHASE4 | COMPLETED | GIS-SUSANTI-TNF-2015 (Anti-TNF Discontinuation ) |
| NCT02998112 | PHASE4 | UNKNOWN | Fecal Microbiota Transplantation for Ulcerative Colitis Through Colonic Transendoscopic Enteral Tubing |
| NCT03059849 | PHASE4 | WITHDRAWN | Brief Escalation of Adalimumab Treatment for Prevention of Clinical Relapse in IBD |
| NCT03124121 | PHASE4 | COMPLETED | Study of the Golimumab Exposure-Response Relationship Using Serum Trough Levels |
Related Atlas pages
- Associated diseases: ulcerative colitis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): squamous cell lung carcinoma, ulcerative colitis