RANGRF
gene geneOn this page
Also known as MOG1HSPC165HSPC236RANGNRF
Summary
RANGRF (RAN guanine nucleotide release factor, HGNC:17679) is a protein-coding gene on chromosome 17p13.1, encoding Ran guanine nucleotide release factor (Q9HD47). May regulate the intracellular trafficking of RAN.
This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 29098 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Brugada syndrome (Limited, GenCC)
- Clinical variants (ClinVar): 153 total
- Phenotypes (HPO): 12
- MANE Select transcript:
NM_016492
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17679 |
| Approved symbol | RANGRF |
| Name | RAN guanine nucleotide release factor |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MOG1, HSPC165, HSPC236, RANGNRF |
| Ensembl gene | ENSG00000108961 |
| Ensembl biotype | protein_coding |
| OMIM | 607954 |
| Entrez | 29098 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 retained_intron
ENST00000226105, ENST00000407006, ENST00000439238, ENST00000578849, ENST00000580434, ENST00000580777, ENST00000879547, ENST00000879548, ENST00000939480
RefSeq mRNA: 4 — MANE Select: NM_016492
NM_001177801, NM_001177802, NM_001330127, NM_016492
CCDS: CCDS11137, CCDS54086, CCDS54087, CCDS82066
Canonical transcript exons
ENST00000226105 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000855075 | 8289503 | 8289588 |
| ENSE00001233099 | 8288956 | 8289072 |
| ENSE00002701334 | 8288670 | 8288865 |
| ENSE00003589475 | 8289813 | 8290087 |
| ENSE00003634718 | 8289258 | 8289414 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 96.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0747 / max 153.3689, expressed in 1785 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159479 | 18.4551 | 1785 |
| 159481 | 0.6196 | 348 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.67 | gold quality |
| right testis | UBERON:0004534 | 96.27 | gold quality |
| testis | UBERON:0000473 | 95.07 | gold quality |
| granulocyte | CL:0000094 | 93.98 | gold quality |
| apex of heart | UBERON:0002098 | 93.70 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.09 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.77 | gold quality |
| lower esophagus | UBERON:0013473 | 92.72 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.65 | gold quality |
| body of stomach | UBERON:0001161 | 92.51 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.35 | gold quality |
| left uterine tube | UBERON:0001303 | 92.34 | gold quality |
| body of uterus | UBERON:0009853 | 92.32 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.23 | gold quality |
| putamen | UBERON:0001874 | 92.17 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.84 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.81 | gold quality |
| endocervix | UBERON:0000458 | 91.80 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.56 | gold quality |
| adult organism | UBERON:0007023 | 91.44 | gold quality |
| left ovary | UBERON:0002119 | 91.41 | gold quality |
| right ovary | UBERON:0002118 | 91.27 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.26 | gold quality |
| ascending aorta | UBERON:0001496 | 91.25 | gold quality |
| right coronary artery | UBERON:0001625 | 91.25 | gold quality |
| left coronary artery | UBERON:0001626 | 91.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.89 | gold quality |
| aorta | UBERON:0000947 | 90.80 | gold quality |
| coronary artery | UBERON:0001621 | 90.64 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting RANGRF, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-550A-3P | 98.37 | 69.61 | 632 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
Literature-anchored findings (GeneRIF, showing 6)
- in cardiomyocytes, MOG1 is mostly localized in the cell membrane and co-localized with Nav1.5, indicating that MOG1 is a critical regulator of sodium channel function in the heart (PMID:18184654)
- Results suggest that dominant-negative mutations in MOG1 can impair the trafficking of Na(v)1.5 to the membrane, leading to I(Na) reduction and clinical manifestation of Brugada syndrome. (PMID:21447824)
- Our screening of Nav1.5 cofactor MOG1 uncovered a novel nonsense variant that appeared to be present at a higher frequency among these patients with atrial fibrillation and Brugada syndrome than control subjects. (PMID:21621375)
- Suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome. (PMID:24142675)
- Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. (PMID:24438356)
- The MOG1 domain required for the interaction with Nav1.5 to the region spanning amino acids 146-174, and a refined deletion analysis further narrowed this domain to amino acids146-155. (PMID:30282806)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rangrf | ENSDARG00000098786 |
| mus_musculus | Rangrf | ENSMUSG00000032892 |
| rattus_norvegicus | Rangrf | ENSRNOG00000004980 |
| rattus_norvegicus | ENSRNOG00000066806 |
Protein
Protein identifiers
Ran guanine nucleotide release factor — Q9HD47 (reviewed: Q9HD47)
Alternative names: Ran-binding protein MOG1
All UniProt accessions (1): Q9HD47
UniProt curated annotations — full annotation on UniProt →
Function. May regulate the intracellular trafficking of RAN. Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1. Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics. Enhances the expression of SCN5A at the cell membrane in cardiomyocytes.
Subunit / interactions. Monomer. Interacts with RAN, both RAN-GTP and RAN-GDP. Competes with RCC1 for a common binding site on RAN and thereby inhibits RCC1-mediated nucleotide exchange. Forms a complex with RAN-GTP and RANBP1. Interacts with the cytoplasmic loop 2 of SCN5A.
Subcellular location. Nucleus. Cytoplasm. Perinuclear region. Cell membrane.
Tissue specificity. Isoform 1 and isoform 2 are ubiquitously expressed. Detected in heart and brain.
Miscellaneous. Overexpression can rescue the trafficking defect caused by some SCN5A mutations that impair trafficking to the cell membrane.
Similarity. Belongs to the MOG1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HD47-1 | 1, MOG1a | yes |
| Q9HD47-2 | 2, MOG1b | |
| Q9HD47-3 | 3 | |
| Q9HD47-4 | 4 |
RefSeq proteins (4): NP_001171272, NP_001171273, NP_001317056, NP_057576* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007681 | Mog1 | Family |
| IPR016123 | Mog1/PsbP_a/b/a-sand | Homologous_superfamily |
Pfam: PF04603
UniProt features (32 total): strand 9, helix 5, splice variant 5, mutagenesis site 4, turn 4, sequence variant 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5YFG | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HD47-F1 | 78.36 | 0.13 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 50 | strongly decreased binding to ran. abolishes binding to ran; when associated with k-53. |
| 53 | decreased binding to ran. abolishes binding to ran; when associated with k-50. |
| 70 | decreased binding to ran. |
| 27 | decreased binding to ran. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5576892 | Phase 0 - rapid depolarisation |
| R-HSA-397014 | Muscle contraction |
| R-HSA-5576891 | Cardiac conduction |
MSigDB gene sets: 231 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_BUNDLE_OF_HIS_CELL_TO_PURKINJE_MYOCYTE_COMMUNICATION, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, DITTMER_PTHLH_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY
GO Biological Process (14): regulation of heart rate (GO:0002027), regulation of membrane depolarization (GO:0003254), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein exit from endoplasmic reticulum (GO:0032527), heart contraction (GO:0060047), mitotic spindle assembly (GO:0090307), regulation of bundle of His cell action potential (GO:0098905), regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909), regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825), positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827), regulation of sodium ion transmembrane transport (GO:1902305), positive regulation of protein localization to plasma membrane (GO:1903078), positive regulation of protein localization to cell surface (GO:2000010), protein transport (GO:0015031)
GO Molecular Function (6): guanyl-nucleotide exchange factor activity (GO:0005085), sodium channel regulator activity (GO:0017080), small GTPase binding (GO:0031267), transmembrane transporter binding (GO:0044325), channel activator activity (GO:0099103), protein binding (GO:0005515)
GO Cellular Component (10): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), rough endoplasmic reticulum (GO:0005791), cytosol (GO:0005829), plasma membrane (GO:0005886), caveola (GO:0005901), intercalated disc (GO:0014704), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cardiac conduction | 1 |
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 4 |
| regulation of cardiac muscle cell action potential | 2 |
| membrane depolarization during cardiac muscle cell action potential | 2 |
| regulation of heart contraction | 1 |
| regulation of biological quality | 1 |
| regulation of membrane potential | 1 |
| regulation of cellular process | 1 |
| membrane depolarization | 1 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| intracellular protein transport | 1 |
| heart process | 1 |
| blood circulation | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic spindle organization | 1 |
| spindle assembly | 1 |
| mitotic nuclear division | 1 |
| bundle of His cell action potential | 1 |
| cardiac muscle cell action potential | 1 |
| regulation of cardiac muscle cell contraction | 1 |
| regulation of membrane depolarization during action potential | 1 |
| regulation of membrane depolarization during cardiac muscle cell action potential | 1 |
| positive regulation of membrane depolarization | 1 |
| regulation of sodium ion transport | 1 |
| sodium ion transmembrane transport | 1 |
| regulation of monoatomic cation transmembrane transport | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 1 |
| protein localization to cell surface | 1 |
| positive regulation of protein localization | 1 |
| regulation of protein localization to cell surface | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
Protein interactions and networks
STRING
570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RANGRF | RANBP1 | P43487 | 864 |
| RANGRF | SCN5A | Q14524 | 837 |
| RANGRF | GPD1L | Q8N335 | 773 |
| RANGRF | SCN3B | Q9NY72 | 771 |
| RANGRF | KCNE3 | Q9Y6H6 | 739 |
| RANGRF | SCN2B | O60939 | 734 |
| RANGRF | SLMAP | Q14BN4 | 730 |
| RANGRF | SCN1B | Q07699 | 726 |
| RANGRF | KCNE5 | Q9UJ90 | 720 |
| RANGRF | RAN | P17080 | 719 |
| RANGRF | CACNA2D1 | P54289 | 709 |
| RANGRF | KCNJ8 | Q15842 | 694 |
| RANGRF | KCND3 | Q9UK17 | 670 |
| RANGRF | PKP2 | Q99959 | 665 |
| RANGRF | HCN4 | Q9Y3Q4 | 623 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSEN15 | TSEN54 | psi-mi:“MI:0914”(association) | 0.740 |
| RANGRF | RAN | psi-mi:“MI:0914”(association) | 0.640 |
| RAN | RGPD8 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF266 | RANGRF | psi-mi:“MI:0915”(physical association) | 0.590 |
| SS18L2 | SMARCA2 | psi-mi:“MI:0914”(association) | 0.570 |
| RAN | NEMP2 | psi-mi:“MI:0914”(association) | 0.530 |
| B2M | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| IGSF6 | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| WDR59 | EPB41L2 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB30 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC56 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB3A | RAB3B | psi-mi:“MI:0914”(association) | 0.530 |
| GNG2 | GNB5 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB3A | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| SRSF2 | RANGRF | psi-mi:“MI:0915”(physical association) | 0.500 |
| EIF2S3 | RANGRF | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCTP | RANGRF | psi-mi:“MI:0915”(physical association) | 0.400 |
| RANGRF | PTPN11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ranbp2 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| MUC20 | RAD51B | psi-mi:“MI:0914”(association) | 0.350 |
| SGCZ | ATP5F1B | psi-mi:“MI:0914”(association) | 0.350 |
| SAPCD1 | CTNNA2 | psi-mi:“MI:0914”(association) | 0.350 |
| GNG2 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (52): RANGRF (Two-hybrid), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS), RANGRF (Affinity Capture-MS)
ESM2 similar proteins: A0A5F8AH41, A0AVI4, A0JMH2, A1Y9I9, A5WVX1, B0X4N1, B4P925, D3ZX08, O55171, O88512, O95050, O97972, P0DPD7, P0DPE0, P0DPE1, P10937, P10938, P11086, P40935, P40936, Q06AU9, Q08DK0, Q14CH7, Q32PE2, Q32Q92, Q3SZG9, Q3URQ7, Q568P9, Q5E9L5, Q5JTZ9, Q5RCH4, Q5RFR7, Q6NTR1, Q6NZB1, Q7QIL2, Q7TMC8, Q80YU0, Q8HY87, Q8K304, Q8NFF5
Diamond homologs: A3KPP3, O75002, Q32PE2, Q54ML6, Q9HD47, Q9JIB0, P47123
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
153 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 83 |
| Likely benign | 55 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
601 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:8288675:C:G | donor_gain | 0.9800 |
| 17:8288861:GTAAG:G | donor_loss | 0.9800 |
| 17:8288862:TAAGG:T | donor_loss | 0.9800 |
| 17:8288863:AAGGT:A | donor_loss | 0.9800 |
| 17:8288864:AGG:A | donor_loss | 0.9800 |
| 17:8288866:GTGAG:G | donor_loss | 0.9800 |
| 17:8289079:G:T | donor_gain | 0.9800 |
| 17:8289252:CTCCA:C | acceptor_loss | 0.9800 |
| 17:8289253:TCCA:T | acceptor_loss | 0.9800 |
| 17:8289254:CCA:C | acceptor_loss | 0.9800 |
| 17:8289255:CAGG:C | acceptor_loss | 0.9800 |
| 17:8289256:AGGTA:A | acceptor_loss | 0.9800 |
| 17:8289398:C:G | donor_gain | 0.9800 |
| 17:8289589:G:GG | donor_gain | 0.9800 |
| 17:8289073:G:GG | donor_gain | 0.9700 |
| 17:8288671:GGAGC:G | donor_gain | 0.9600 |
| 17:8289410:AGCAG:A | donor_loss | 0.9600 |
| 17:8289412:CAG:C | donor_loss | 0.9600 |
| 17:8289413:AGGTG:A | donor_loss | 0.9600 |
| 17:8289414:GG:G | donor_loss | 0.9600 |
| 17:8289416:TGAG:T | donor_loss | 0.9600 |
| 17:8289417:GAGG:G | donor_loss | 0.9600 |
| 17:8288672:GAGC:G | donor_gain | 0.9500 |
| 17:8288955:GC:G | acceptor_gain | 0.9500 |
| 17:8288967:C:A | acceptor_gain | 0.9500 |
| 17:8289050:G:GG | donor_gain | 0.9500 |
| 17:8289411:GCAG:G | donor_gain | 0.9500 |
| 17:8289597:G:GT | donor_gain | 0.9500 |
| 17:8289811:A:G | acceptor_gain | 0.9500 |
| 17:8288954:A:AG | acceptor_gain | 0.9400 |
AlphaMissense
1211 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:8288970:T:A | V31D | 0.988 |
| 17:8288816:T:C | F10L | 0.983 |
| 17:8288818:C:A | F10L | 0.983 |
| 17:8288818:C:G | F10L | 0.983 |
| 17:8289014:A:C | S46R | 0.971 |
| 17:8289016:C:A | S46R | 0.971 |
| 17:8289016:C:G | S46R | 0.971 |
| 17:8289922:T:C | F183L | 0.971 |
| 17:8289924:T:A | F183L | 0.971 |
| 17:8289924:T:G | F183L | 0.971 |
| 17:8289383:G:A | G107D | 0.969 |
| 17:8289018:T:C | L47P | 0.966 |
| 17:8288983:A:C | Q35H | 0.959 |
| 17:8288983:A:T | Q35H | 0.959 |
| 17:8289564:T:C | L138P | 0.959 |
| 17:8289862:T:A | W163R | 0.958 |
| 17:8289862:T:C | W163R | 0.958 |
| 17:8288982:A:C | Q35P | 0.953 |
| 17:8289262:C:G | H67D | 0.953 |
| 17:8289377:T:C | L105P | 0.950 |
| 17:8288829:T:C | F14S | 0.949 |
| 17:8288991:T:C | F38S | 0.948 |
| 17:8289561:A:G | D137G | 0.947 |
| 17:8289530:G:C | A127P | 0.946 |
| 17:8289531:C:A | A127D | 0.946 |
| 17:8288990:T:C | F38L | 0.945 |
| 17:8288992:C:A | F38L | 0.945 |
| 17:8288992:C:G | F38L | 0.945 |
| 17:8288816:T:A | F10I | 0.944 |
| 17:8289560:G:C | D137H | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000293054 (17:8288471 C>A,T), RS1003532491 (17:8288728 A>T), RS1004152798 (17:8288092 C>T), RS1005420897 (17:8287043 G>A), RS1007767651 (17:8288639 G>A,C), RS1008717766 (17:8289556 G>A), RS1008791126 (17:8289231 C>T), RS1009475957 (17:8288578 C>T), RS1010842675 (17:8289193 A>G), RS1011178032 (17:8288058 C>T), RS1011923566 (17:8290465 C>T), RS1011955967 (17:8286986 A>C), RS1014363160 (17:8289715 G>A,C), RS1014428533 (17:8289186 G>A), RS1017300154 (17:8289232 T>A)
Disease associations
OMIM: gene MIM:607954 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Brugada syndrome | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Brugada syndrome | Refuted | AD |
Mondo (2): cardiac rhythm disease (MONDO:0007263), Brugada syndrome (MONDO:0015263)
Orphanet (0):
HPO phenotypes
12 total (12 of 12 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001279 | Syncope |
| HP:0001649 | Tachycardia |
| HP:0001663 | Ventricular fibrillation |
| HP:0001695 | Cardiac arrest |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004755 | Supraventricular tachycardia |
| HP:0011704 | Sick sinus syndrome |
| HP:0011705 | First degree atrioventricular block |
| HP:0011712 | Complete right bundle branch block |
| HP:0011715 | Trifascicular block |
| HP:0012251 | ST segment elevation |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| cobaltous chloride | decreases expression | 2 |
| arsenite | affects binding, increases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| NSC 689534 | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Theophylline | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D0PZ | WYUi002-A | Induced pluripotent stem cell | Female |
Clinical trials (associated diseases)
307 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00702117 | PHASE4 | COMPLETED | Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias |
| NCT00146822 | PHASE4 | COMPLETED | REFLEx Study (ENDOTAK RELIANCE G Evaluation of Handling and Electrical Performance |
| NCT00187239 | PHASE4 | COMPLETED | Reduce Ventricular Pacing in Dual Chamber Implantable Cardioverter Defibrillators Using AutoIntrinsic Conduction Search Study |
| NCT00247533 | PHASE4 | UNKNOWN | Cerebral Artery Stenosis, Coronary Artery Disease and Arrhythmia |
| NCT00282620 | PHASE4 | UNKNOWN | Magnesium to Reduce Implantable Cardioverter Defibrillator (ICD) Shocks and Improve Patient’s Quality of Life. |
| NCT00290056 | PHASE4 | UNKNOWN | Effect of Supplemental Intake of Omega-3 Polyunsaturated Fatty Acids on the Rate and Complexity of Spontaneously Occurring Ventricular and Supraventricular Arrhythmias in Patients With Implantable Cardioverter Defibrillator (ICD) - A Randomized Clinical Trial |
| NCT00313443 | PHASE4 | COMPLETED | Concentrations of Amiodarone in Fat Tissue During Chronic Treatment |
| NCT00457340 | PHASE4 | COMPLETED | Atorvastatin For The Reduction Of Ventricular Arrhythmias |
| NCT00507390 | PHASE4 | WITHDRAWN | Omega 3 Polyunsaturated Fatty Acid Supplements (PUFAs) and Microvolt T Wave Alternans (TWA) in Patients With Ventricular Arrhythmia |
| NCT00575523 | PHASE4 | COMPLETED | Atropine for Prevention of Dysrhythmias Caused by Percutaneous Ethanol Instillation for Hepatoma Therapy |
| NCT00579098 | PHASE4 | COMPLETED | The Use of Statins Following a Left Atrial Catheter Ablation Procedure to Prevent Atrial Fibrillation |
| NCT01613092 | PHASE4 | COMPLETED | Prevention of Arrhythmia Device Infection Trial (PADIT) |
| NCT01628666 | PHASE4 | COMPLETED | Prevention of Arrhythmia Device Infection Trial (PADIT) |
| NCT01717469 | PHASE4 | UNKNOWN | Safety and the Effects of Isolated Left Ventricular Pacing in Patients With Bradyarrhythmias |
| NCT01819064 | PHASE4 | COMPLETED | Heart Rate Response to Atropine Doses Less Than 0.1mg IV to Anesthetized Infants |
| NCT01834872 | PHASE4 | UNKNOWN | Safety and Feasibility of Arrhythmia Ablation Using the Amigo Remote Robotic System as Compared With Manual Ablation |
| NCT01841242 | PHASE4 | COMPLETED | Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation |
| NCT01991223 | PHASE4 | UNKNOWN | Dexmedetomidine for Catheter-related Bladder Discomfort |
| NCT02045173 | PHASE4 | COMPLETED | Automate Detection of Sleep Apnea by ApneascanTM |
| NCT02203630 | PHASE4 | TERMINATED | Phenylephrine Versus Norepinephrine for Septic Shock in Critically Ill Patients |
| NCT02565069 | PHASE4 | COMPLETED | Identification for the Treatment of Complex Arrhythmias |
| NCT03273634 | PHASE4 | COMPLETED | The Effect of Proton Pump Inhibition on Palpitations |
| NCT03289429 | PHASE4 | UNKNOWN | Antiarrhythmic and Cardioprotective Effects of Atorvastatin Versus Magnesium Sulfate in Cardiac Valve Replacement Surgery |
| NCT03895411 | PHASE4 | UNKNOWN | Efficacy and Safety of Sotalol in Children With Arrhythmia |
| NCT05486377 | PHASE4 | COMPLETED | Remimazolam vs Desflurane for General Anesthesia for Ablation of Arrhythmia |
| NCT06574555 | PHASE4 | COMPLETED | Norepinephrine ED90 Bolus After Spinal Anesthesia in Cesarean Section |
| NCT00701077 | PHASE3 | TERMINATED | DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome |
| NCT00927732 | PHASE3 | TERMINATED | Hydroquinidine Versus Placebo in Patients With Brugada Syndrome |
| NCT00000464 | PHASE3 | COMPLETED | Cardiac Arrest in Seattle: Conventional Versus Amiodarone Drug Evaluation (CASCADE) |
| NCT00000476 | PHASE3 | COMPLETED | Digitalis Investigation Group (DIG) |
| NCT00000480 | PHASE3 | COMPLETED | Multicenter Unsustained Tachycardia Trial (MUSTT) |
| NCT00000492 | PHASE3 | COMPLETED | Beta-Blocker Heart Attack Trial (BHAT) |
| NCT00000502 | PHASE3 | COMPLETED | Evaluation of SC-V Versus Conventional CPR |
| NCT00000517 | PHASE3 | COMPLETED | Boston Area Anticoagulation Trial for Atrial Fibrillation (BAATAF) |
| NCT00000518 | PHASE3 | COMPLETED | Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) |
| NCT00000531 | PHASE3 | COMPLETED | Antiarrhythmics Versus Implantable Defibrillators (AVID) |
| NCT00000540 | PHASE3 | COMPLETED | Coronary Artery Bypass Graft (CABG) Patch Trial |
| NCT00000556 | PHASE3 | COMPLETED | Atrial Fibrillation Follow-up Investigation of Rhythm Management (AFFIRM) |
| NCT00000561 | PHASE3 | COMPLETED | Mode Selection Trial in Sinus Node Dysfunction (MOST) |
| NCT00000609 | PHASE3 | COMPLETED | Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) |
Related Atlas pages
- Associated diseases: Brugada syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Brugada syndrome, cardiac rhythm disease