CGN
gene geneOn this page
Also known as KIAA1319
Summary
CGN (cingulin, HGNC:17429) is a protein-coding gene on chromosome 1q21.3, encoding Cingulin (Q9P2M7). Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
Enables cadherin binding activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to act upstream of or within bicellular tight junction assembly and epithelial cell morphogenesis. Located in bicellular tight junction and plasma membrane.
Source: NCBI Gene 57530 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 223 total
- MANE Select transcript:
NM_020770
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17429 |
| Approved symbol | CGN |
| Name | cingulin |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1319 |
| Ensembl gene | ENSG00000143375 |
| Ensembl biotype | protein_coding |
| OMIM | 609473 |
| Entrez | 57530 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 14 protein_coding, 3 retained_intron
ENST00000271636, ENST00000416743, ENST00000427934, ENST00000464886, ENST00000467998, ENST00000473377, ENST00000502442, ENST00000505188, ENST00000879038, ENST00000879039, ENST00000879040, ENST00000879041, ENST00000928061, ENST00000928062, ENST00000928063, ENST00000928064, ENST00000962862
RefSeq mRNA: 1 — MANE Select: NM_020770
NM_020770
CCDS: CCDS999
Canonical transcript exons
ENST00000271636 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000959670 | 151520166 | 151520266 |
| ENSE00000959671 | 151520414 | 151520483 |
| ENSE00000959672 | 151520596 | 151520691 |
| ENSE00000959674 | 151524226 | 151524358 |
| ENSE00000959675 | 151524674 | 151524886 |
| ENSE00000959676 | 151525642 | 151525790 |
| ENSE00000959680 | 151530489 | 151530746 |
| ENSE00000959681 | 151532402 | 151532572 |
| ENSE00000959682 | 151533975 | 151534136 |
| ENSE00000959683 | 151535042 | 151535131 |
| ENSE00001436343 | 151529350 | 151529559 |
| ENSE00001436384 | 151529909 | 151530115 |
| ENSE00001596393 | 151511387 | 151511515 |
| ENSE00003463739 | 151536237 | 151536345 |
| ENSE00003501439 | 151536730 | 151536893 |
| ENSE00003562037 | 151535780 | 151535898 |
| ENSE00003568370 | 151526975 | 151527107 |
| ENSE00003604275 | 151535600 | 151535683 |
| ENSE00003653528 | 151537205 | 151538692 |
| ENSE00003786637 | 151523434 | 151523561 |
| ENSE00003796769 | 151518506 | 151519392 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 98.79.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5339 / max 63.5436, expressed in 622 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5229 | 1.6297 | 525 |
| 5228 | 0.6394 | 313 |
| 5230 | 0.2648 | 158 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 98.79 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.29 | gold quality |
| right uterine tube | UBERON:0001302 | 95.75 | gold quality |
| body of pancreas | UBERON:0001150 | 95.29 | gold quality |
| rectum | UBERON:0001052 | 94.91 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.80 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.56 | gold quality |
| duodenum | UBERON:0002114 | 93.25 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 92.80 | gold quality |
| right lung | UBERON:0002167 | 92.29 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.26 | gold quality |
| sural nerve | UBERON:0015488 | 92.17 | gold quality |
| secondary oocyte | CL:0000655 | 92.01 | gold quality |
| pancreas | UBERON:0001264 | 91.95 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.95 | gold quality |
| upper lobe of lung | UBERON:0008948 | 91.91 | gold quality |
| skin of leg | UBERON:0001511 | 91.77 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.51 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.49 | gold quality |
| liver | UBERON:0002107 | 91.18 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.13 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.98 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.84 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.33 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.10 | gold quality |
| transverse colon | UBERON:0001157 | 89.76 | gold quality |
| oocyte | CL:0000023 | 89.50 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting CGN, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
Literature-anchored findings (GeneRIF, showing 10)
- Cingulin (KIAA1319 protein) is localized in the cytoplasmic domain of vertebrate epithelial tight junctions, and it interacts with other tight junction proteins such as ZO-1, and with the actomyosin cytoskeleton. (PMID:11042084)
- Results indicate that cells underwent EMT exhibited overactive TGFbeta signaling and loss of expression of the CDH1, CGN, CLDN4, and KLK10 genes as a result of hypermethylation of their corresponding promoter regions. (PMID:20086175)
- Co-imunoprecipitation and confocal microscopy experiments also revealed the tight junction protein cingulin as a new interacting partner of Ubn-1 (PMID:22245583)
- MgcRacGAP colocalizes with CGN and CGNL1 at TJs and forms a complex and interacts directly in vitro with CGN and CGNL1. (PMID:24807907)
- Cingulin modulates barrier function in endothelium. (PMID:26821949)
- Down-regulation of Cingulin Augments Thrombin-induced Endothelial Barrier Disruption. (PMID:27590342)
- Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells. (PMID:34345888)
- miR-1270 enhances the proliferation, migration, and invasion of osteosarcoma via targeting cingulin. (PMID:34873899)
- Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse. (PMID:37691516)
- The Roles and Regulatory Mechanisms of Tight Junction Protein Cingulin and Transcription Factor Forkhead Box Protein O1 in Human Lung Adenocarcinoma A549 Cells and Normal Lung Epithelial Cells. (PMID:38338691)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cgna | ENSDARG00000055607 |
| danio_rerio | cgnb | ENSDARG00000058690 |
| mus_musculus | Cgn | ENSMUSG00000068876 |
Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)
Protein
Protein identifiers
Cingulin — Q9P2M7 (reviewed: Q9P2M7)
All UniProt accessions (4): Q9P2M7, A2A3M4, A6PVU7, H0Y4A8
UniProt curated annotations — full annotation on UniProt →
Function. Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier.
Subunit / interactions. Homodimer. Interacts with TJP1/ZO1. Interacts with SPEF1.
Subcellular location. Cell junction. Tight junction.
Tissue specificity. Localized on the cytoplasmic face of tight junctions of polarized epithelia and some endothelia. Expressed in pancreas, kidney, liver and lung, but not in skeletal muscle, placenta, brain or heart.
Domain organisation. Deletion of the TJP1/ZO1 interaction motif (ZIM) decreases but does not abolish colocalization with TJP1/ZO1.
Miscellaneous. May be due to an intron retention.
Similarity. Belongs to the cingulin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2M7-1 | 1 | yes |
| Q9P2M7-2 | 2 |
RefSeq proteins (1): NP_065821* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002928 | Myosin_tail | Domain |
Pfam: PF01576
UniProt features (35 total): modified residue 18, region of interest 8, compositionally biased region 3, splice variant 2, chain 1, short sequence motif 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2M7-F1 | 70.44 | 0.39 |
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 (18): 95, 96, 135, 137, 140, 155, 165, 214, 217, 258, 276, 338, 351, 579, 712, 1175, 1176, 1182
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
MSigDB gene sets: 144 (showing top):
REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, ATACCTC_MIR202, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, KEGG_TIGHT_JUNCTION, TGACCTY_ERR1_Q2, CHX10_01, USF_C, NFKB_Q6, GTGCCTT_MIR506, TCF4_Q5, CEBP_Q2, NKX62_Q2, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, WANG_LMO4_TARGETS_DN, USF_01
GO Biological Process (1): microtubule cytoskeleton organization (GO:0000226)
GO Molecular Function (4): actin binding (GO:0003779), microtubule binding (GO:0008017), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (5): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), myosin complex (GO:0016459), cell junction (GO:0030054), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by TGF-beta Receptor Complex | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| cytoskeletal protein binding | 1 |
| tubulin binding | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
975 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CGN | TJP2 | Q9UDY2 | 999 |
| CGN | TJP1 | Q07157 | 998 |
| CGN | TJP3 | O95049 | 997 |
| CGN | OCLN | Q16625 | 995 |
| CGN | MARVELD2 | Q8N4S9 | 987 |
| CGN | AFDN | P55196 | 975 |
| CGN | F11R | Q9Y624 | 963 |
| CGN | ARHGEF2 | Q92974 | 947 |
| CGN | A0A087WZG4 | A0A087WZG4 | 923 |
| CGN | ARHGEF18 | Q6ZSZ5 | 923 |
| CGN | RACGAP1 | Q9H0H5 | 919 |
| CGN | SYMPK | Q92797 | 854 |
| CGN | MPDZ | O75970 | 854 |
| CGN | ASH1L | Q9NR48 | 847 |
| CGN | PLEKHA7 | Q6IQ23 | 783 |
IntAct
292 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| CGN | YWHAQ | psi-mi:“MI:0914”(association) | 0.710 |
| CGN | YWHAE | psi-mi:“MI:0914”(association) | 0.710 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| YWHAQ | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| L1TD1 | PARP1 | psi-mi:“MI:0914”(association) | 0.460 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| CGN | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | RHPN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | APBA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AHNAK | CGN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | APBA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | APBA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | CARD11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | CASK | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CGN | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| WHRN | CGN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (198): CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Affinity Capture-MS), CGN (Proximity Label-MS), CGN (Proximity Label-MS), YWHAZ (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QCI3, A0JMK8, A3KGV1, A7YH32, A9X1A5, B0KWC9, B6MFW3, B8JK76, G5E861, G9G127, O35550, O35551, P59242, P85120, Q15276, Q3V6T2, Q502I3, Q5BJF6, Q5RG45, Q5SNZ0, Q5TZ80, Q5ZJ27, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6DIX6, Q6NRB0, Q6P402, Q6P5D4, Q6PGZ0, Q6VGS5, Q6ZU80, Q7TMK6, Q80UF4, Q80YF0, Q80YT7, Q86SQ7, Q8BIL5, Q8CJ99
Diamond homologs: A7YH32, A9X1A5, B0KWC9, B1MTG4, B1WB65, B3EX63, P14105, P59242, Q0VF96, Q1L8T5, Q6AW69, Q99105, Q9P2M7, Q9PTD7, P35579, Q258K2, P10587, P35580, P35749, P12844, O08638, P35748, Q27991, Q61879, Q62812, Q63862, Q6URW6, Q7Z406, Q8VDD5, Q99323, Q9JLT0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 179 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 |
|---|---|---|---|
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 9 | 49.1× | 2e-11 |
| Activation of BAD and translocation to mitochondria | 7 | 43.3× | 9e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 38.2× | 2e-08 |
| Activation of BH3-only proteins | 7 | 28.3× | 2e-07 |
| RHO GTPases activate PKNs | 10 | 25.8× | 9e-10 |
| Intrinsic Pathway for Apoptosis | 7 | 16.7× | 7e-06 |
| FOXO-mediated transcription | 5 | 13.7× | 6e-04 |
| Neurexins and neuroligins | 8 | 12.8× | 7e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 6 | 20.9× | 2e-04 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 20.8× | 4e-05 |
| protein targeting | 6 | 13.2× | 1e-03 |
| negative regulation of translation | 7 | 8.2× | 4e-03 |
| cellular response to insulin stimulus | 7 | 7.1× | 7e-03 |
| intracellular protein localization | 9 | 5.6× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
223 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 193 |
| Likely benign | 11 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2777 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:151511513:AGGGT:A | donor_loss | 1.0000 |
| 1:151511514:GG:G | donor_gain | 1.0000 |
| 1:151511515:GG:G | donor_gain | 1.0000 |
| 1:151511516:G:C | donor_loss | 1.0000 |
| 1:151511516:G:GG | donor_gain | 1.0000 |
| 1:151518501:TCTA:T | acceptor_loss | 1.0000 |
| 1:151518502:CTAG:C | acceptor_loss | 1.0000 |
| 1:151518503:TA:T | acceptor_loss | 1.0000 |
| 1:151518504:A:AG | acceptor_gain | 1.0000 |
| 1:151518504:AGG:A | acceptor_loss | 1.0000 |
| 1:151518505:G:A | acceptor_loss | 1.0000 |
| 1:151518505:G:GG | acceptor_gain | 1.0000 |
| 1:151520165:GTTC:G | acceptor_gain | 1.0000 |
| 1:151520262:GAGGG:G | donor_gain | 1.0000 |
| 1:151520264:GGG:G | donor_gain | 1.0000 |
| 1:151520264:GGGGT:G | donor_loss | 1.0000 |
| 1:151520265:GGG:G | donor_gain | 1.0000 |
| 1:151520266:GGTG:G | donor_loss | 1.0000 |
| 1:151520267:GTGA:G | donor_loss | 1.0000 |
| 1:151520268:T:G | donor_loss | 1.0000 |
| 1:151520412:A:AG | acceptor_gain | 1.0000 |
| 1:151520413:G:GG | acceptor_gain | 1.0000 |
| 1:151520413:GA:G | acceptor_gain | 1.0000 |
| 1:151520413:GAA:G | acceptor_gain | 1.0000 |
| 1:151520594:AGAT:A | acceptor_gain | 1.0000 |
| 1:151520595:GATG:G | acceptor_gain | 1.0000 |
| 1:151523431:CA:C | acceptor_loss | 1.0000 |
| 1:151523432:A:AC | acceptor_loss | 1.0000 |
| 1:151523432:A:AG | acceptor_gain | 1.0000 |
| 1:151523433:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
7764 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000081141 (1:151531089 C>T), RS1000092828 (1:151512989 G>A), RS1000264401 (1:151516891 G>A), RS1000361976 (1:151509998 TAA>T,TA,TAAA,TAAAA), RS1000396748 (1:151509883 TAAA>T,TAA,TAAAA), RS1000455130 (1:151513191 C>A), RS1000503726 (1:151513538 C>T), RS1000541504 (1:151536936 G>A), RS1000594811 (1:151529326 A>G), RS1000807834 (1:151523245 A>G), RS1000947518 (1:151527234 G>A), RS1000957308 (1:151527575 G>A), RS1001086290 (1:151519843 A>G), RS1001149383 (1:151532878 C>T), RS1001309705 (1:151526461 C>A)
Disease associations
OMIM: gene MIM:609473 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_38 | Body mass index | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases methylation, affects cotreatment | 6 |
| Estradiol | decreases expression, increases reaction, affects binding, increases expression, affects cotreatment | 4 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| methylmercuric chloride | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Phenobarbital | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| pentanal | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 5-(2,4-dihydroxy-5-isopropylphenyl)-4-(4-morpholin-4-ylmethylphenyl)isoxazole-3-carboxylic acid ethylamide | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| Rosiglitazone | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.