ANGEL1
gene geneOn this page
Also known as Ccr4e
Summary
ANGEL1 (angel homolog 1, HGNC:19961) is a protein-coding gene on chromosome 14q24.3, encoding RNA 2’,3’-cyclic phosphatase ANGEL1 (Q9UNK9). Exhibits weak RNA 2’,3’-cyclic phosphatase, catalyzing the hydrolysis of RNA molecules with a 2’,3’-cyclic phosphate at the 3’ end to produce RNA with a linear 3’-phosphate group.
Enables eukaryotic initiation factor 4E binding activity and protein domain specific binding activity. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. Is active in mitochondrial outer membrane.
Source: NCBI Gene 23357 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 113 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_015305
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19961 |
| Approved symbol | ANGEL1 |
| Name | angel homolog 1 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Ccr4e |
| Ensembl gene | ENSG00000013523 |
| Ensembl biotype | protein_coding |
| OMIM | 619537 |
| Entrez | 23357 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000251089, ENST00000554058, ENST00000554941, ENST00000555079, ENST00000556072, ENST00000556298, ENST00000557179, ENST00000557497, ENST00000851327, ENST00000939771
RefSeq mRNA: 4 — MANE Select: NM_015305
NM_001370746, NM_001370747, NM_001370748, NM_015305
CCDS: CCDS9852
Canonical transcript exons
ENST00000251089 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000808468 | 76786009 | 76789388 |
| ENSE00000808471 | 76812764 | 76812882 |
| ENSE00004022767 | 76806416 | 76806849 |
| ENSE00004022768 | 76809059 | 76809643 |
| ENSE00004022769 | 76791297 | 76791366 |
| ENSE00004022770 | 76807433 | 76807502 |
| ENSE00004022771 | 76803371 | 76803481 |
| ENSE00004022772 | 76790611 | 76790774 |
| ENSE00004022774 | 76803786 | 76803912 |
| ENSE00004022775 | 76807922 | 76808148 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 94.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0668 / max 82.9996, expressed in 1739 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 144172 | 6.9007 | 1739 |
| 144170 | 0.0956 | 39 |
| 144171 | 0.0403 | 10 |
| 144174 | 0.0140 | 3 |
| 144175 | 0.0101 | 3 |
| 144176 | 0.0042 | 3 |
| 144173 | 0.0019 | 2 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 94.29 | gold quality |
| left testis | UBERON:0004533 | 94.09 | gold quality |
| body of pancreas | UBERON:0001150 | 93.96 | gold quality |
| testis | UBERON:0000473 | 92.71 | gold quality |
| pancreas | UBERON:0001264 | 91.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.73 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.68 | gold quality |
| spleen | UBERON:0002106 | 88.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.98 | gold quality |
| spinal cord | UBERON:0002240 | 87.81 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.78 | gold quality |
| apex of heart | UBERON:0002098 | 87.19 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.73 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.60 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.53 | gold quality |
| pituitary gland | UBERON:0000007 | 86.29 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.11 | gold quality |
| adrenal gland | UBERON:0002369 | 85.95 | gold quality |
| tibial nerve | UBERON:0001323 | 85.84 | gold quality |
| sural nerve | UBERON:0015488 | 85.82 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.66 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.34 | gold quality |
| amygdala | UBERON:0001876 | 85.26 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.09 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.97 | gold quality |
| right atrium auricular region | UBERON:0006631 | 84.76 | gold quality |
| cingulate cortex | UBERON:0003027 | 84.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.63 | gold quality |
| endometrium epithelium | UBERON:0004811 | 84.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
112 targeting ANGEL1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | angel1 | ENSDARG00000077567 |
| mus_musculus | Angel1 | ENSMUSG00000021257 |
| rattus_norvegicus | Angel1 | ENSRNOG00000010567 |
| drosophila_melanogaster | twin | FBGN0011725 |
| drosophila_melanogaster | angel | FBGN0016762 |
| caenorhabditis_elegans | WBGENE00000376 | |
| caenorhabditis_elegans | WBGENE00020955 |
Paralogs (5): CNOT6 (ENSG00000113300), CNOT6L (ENSG00000138767), NOCT (ENSG00000151014), ANGEL2 (ENSG00000174606), PDE12 (ENSG00000174840)
Protein
Protein identifiers
RNA 2’,3’-cyclic phosphatase ANGEL1 — Q9UNK9 (reviewed: Q9UNK9)
All UniProt accessions (5): Q9UNK9, A0A3B3IU54, G3V414, G3V437, G3V5C4
UniProt curated annotations — full annotation on UniProt →
Function. Exhibits weak RNA 2’,3’-cyclic phosphatase, catalyzing the hydrolysis of RNA molecules with a 2’,3’-cyclic phosphate at the 3’ end to produce RNA with a linear 3’-phosphate group. Plays a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon.
Subunit / interactions. Interacts with EIF4E. Interacts with SKIC2.
Subcellular location. Mitochondrion outer membrane. Golgi apparatus. Endoplasmic reticulum.
Similarity. Belongs to the CCR4/nocturin family.
RefSeq proteins (4): NP_001357675, NP_001357676, NP_001357677, NP_056120* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005135 | Endo/exonuclease/phosphatase | Domain |
| IPR036691 | Endo/exonu/phosph_ase_sf | Homologous_superfamily |
| IPR050410 | CCR4/nocturin_mRNA_transcr | Family |
Pfam: PF03372
Catalyzed reactions (Rhea), 2 shown:
- a 3’-end 2’,3’-cyclophospho-ribonucleotide-RNA + 2 H2O = a 3’-end ribonucleotide-RNA + phosphate + H(+) (RHEA:85011)
- a 3’-end 2’-phospho-ribonucleotide-RNA + H2O = a 3’-end ribonucleotide-RNA + phosphate (RHEA:85191)
UniProt features (18 total): binding site 7, sequence variant 3, modified residue 2, mutagenesis site 2, sequence conflict 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNK9-F1 | 70.65 | 0.42 |
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 (7): 251; 298; 298; 392; 433; 435; 656
Post-translational modifications (2): 105, 77
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 298 | disrupts function in non-stop mrna decay. |
| 507 | loss of interaction with eif4e. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
RRAGTTGT_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, PATIL_LIVER_CANCER, BROWNE_HCMV_INFECTION_48HR_DN, chr14q24, GOCC_MITOCHONDRIAL_ENVELOPE, AACTTT_UNKNOWN, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, FOXJ2_02
GO Biological Process (1): nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)
GO Molecular Function (6): mRNA 3’-UTR binding (GO:0003730), eukaryotic initiation factor 4E binding (GO:0008190), protein domain specific binding (GO:0019904), RNA 2’,3’-cyclic phosphatase activity (GO:0160272), catalytic activity (GO:0003824), protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), cis-Golgi network (GO:0005801), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| cellular anatomical structure | 2 |
| nuclear-transcribed mRNA catabolic process | 1 |
| mRNA binding | 1 |
| translation initiation factor binding | 1 |
| protein binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on RNA | 1 |
| molecular_function | 1 |
| binding | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| endomembrane system | 1 |
| Golgi apparatus | 1 |
Protein interactions and networks
STRING
516 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANGEL1 | VASH1 | Q7L8A9 | 845 |
| ANGEL1 | POMT2 | Q9UKY4 | 735 |
| ANGEL1 | TGFB3 | P10600 | 579 |
| ANGEL1 | TMEM43 | Q9BTV4 | 549 |
| ANGEL1 | DDX19A | Q9NUU7 | 512 |
| ANGEL1 | RNF187 | Q5TA31 | 491 |
| ANGEL1 | CNOT8 | Q9UFF9 | 483 |
| ANGEL1 | GEMIN5 | Q8TEQ6 | 472 |
| ANGEL1 | PARN | O95453 | 458 |
| ANGEL1 | NSUN6 | Q8TEA1 | 455 |
| ANGEL1 | LDAF1 | Q96B96 | 441 |
| ANGEL1 | PNLDC1 | Q8NA58 | 439 |
| ANGEL1 | NAGA | P17050 | 433 |
| ANGEL1 | DSC2 | Q02487 | 429 |
| ANGEL1 | DSC3 | Q14574 | 428 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF4E | EIF4G3 | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ZNF414 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCNN1D | ABHD16A | psi-mi:“MI:0914”(association) | 0.530 |
| DISC1 | AP4M1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZAR1L | BCL2L11 | psi-mi:“MI:0914”(association) | 0.530 |
| CD63 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| PB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PB2 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.350 |
| IQCN | TARSL2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF414 | ANKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3D | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| FGFRL1 | BACH1 | psi-mi:“MI:0914”(association) | 0.350 |
| SSH3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (108): ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Affinity Capture-MS), ANGEL1 (Proximity Label-MS)
ESM2 similar proteins: A0JPH4, A6H7I3, A8MS41, A9JRL3, B2RYM0, E1C3P4, F1ND48, O35710, O81916, P55265, P55266, P57097, P79942, P97573, Q09M05, Q0WKY2, Q149N8, Q1RMU2, Q2TBA3, Q4U2V3, Q5E9N9, Q5R6Z9, Q5RED8, Q5RGT6, Q5VTE6, Q5XIX3, Q60805, Q66H62, Q6DD21, Q6P549, Q7TPQ3, Q80TQ2, Q8K1C0, Q8K2I9, Q8K4J0, Q8NFZ0, Q8VCU0, Q96MI9, Q99MU3, Q99MV5
Diamond homologs: A1CIJ6, A1CW67, A2BHJ4, A2Q9L0, A8JQX3, B2RYM0, C4V7I7, O74874, P0CP22, P0CP23, P31384, P79942, Q0CT27, Q0U7W4, Q1EA11, Q2UUI3, Q4P9T3, Q4WQG5, Q5A761, Q5B778, Q5BJ41, Q5XH73, Q6AXU9, Q6BMM5, Q6CEJ6, Q6CJU4, Q6FRT2, Q6IR85, Q75BI3, Q8K1C0, Q8K3P5, Q8SU52, Q8VCU0, Q8VEG6, Q8W0Z9, Q96LI5, Q9C2R2, Q9M2F8, Q9ULM6, Q9UNK9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 72 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| translational initiation | 5 | 28.0× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 100 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 208506 | GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) | Likely pathogenic |
SpliceAI
1548 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:76790770:CAGTC:C | acceptor_gain | 1.0000 |
| 14:76790775:C:CC | acceptor_gain | 1.0000 |
| 14:76791378:C:CT | acceptor_gain | 1.0000 |
| 14:76803366:ATTAC:A | donor_loss | 1.0000 |
| 14:76803367:TTAC:T | donor_loss | 1.0000 |
| 14:76803368:TACCT:T | donor_loss | 1.0000 |
| 14:76803369:A:C | donor_loss | 1.0000 |
| 14:76803370:C:CA | donor_loss | 1.0000 |
| 14:76803370:CCTGG:C | donor_gain | 1.0000 |
| 14:76803477:TCTCT:T | acceptor_gain | 1.0000 |
| 14:76803478:CTCT:C | acceptor_gain | 1.0000 |
| 14:76803478:CTCTC:C | acceptor_gain | 1.0000 |
| 14:76803479:TCTC:T | acceptor_loss | 1.0000 |
| 14:76803479:TCTCT:T | acceptor_gain | 1.0000 |
| 14:76803480:CT:C | acceptor_gain | 1.0000 |
| 14:76803481:TC:T | acceptor_loss | 1.0000 |
| 14:76803482:C:CC | acceptor_gain | 1.0000 |
| 14:76803482:C:T | acceptor_loss | 1.0000 |
| 14:76803483:T:C | acceptor_loss | 1.0000 |
| 14:76803490:C:CT | acceptor_gain | 1.0000 |
| 14:76803490:C:T | acceptor_gain | 1.0000 |
| 14:76803491:A:T | acceptor_gain | 1.0000 |
| 14:76803785:CCT:C | donor_loss | 1.0000 |
| 14:76803911:ACC:A | acceptor_loss | 1.0000 |
| 14:76803913:CT:C | acceptor_loss | 1.0000 |
| 14:76806418:T:TA | donor_gain | 1.0000 |
| 14:76806846:AAGC:A | acceptor_gain | 1.0000 |
| 14:76806847:AGCC:A | acceptor_loss | 1.0000 |
| 14:76806850:C:CC | acceptor_gain | 1.0000 |
| 14:76806850:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
4347 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:76807486:T:A | E298V | 0.999 |
| 14:76807973:C:A | W275C | 0.999 |
| 14:76807973:C:G | W275C | 0.999 |
| 14:76807975:A:G | W275R | 0.999 |
| 14:76807975:A:T | W275R | 0.999 |
| 14:76789277:T:A | D655V | 0.998 |
| 14:76789298:G:T | P648H | 0.998 |
| 14:76806585:A:G | L404P | 0.998 |
| 14:76806587:C:A | K403N | 0.998 |
| 14:76806587:C:G | K403N | 0.998 |
| 14:76806774:A:G | F341S | 0.998 |
| 14:76806790:A:C | Y336D | 0.998 |
| 14:76806793:A:G | C335R | 0.998 |
| 14:76806798:G:T | A333D | 0.998 |
| 14:76806804:C:T | G331D | 0.998 |
| 14:76807492:A:G | L296P | 0.998 |
| 14:76807965:C:G | R278P | 0.998 |
| 14:76807966:G:T | R278S | 0.998 |
| 14:76789275:G:C | H656D | 0.997 |
| 14:76789277:T:G | D655A | 0.997 |
| 14:76789299:G:A | P648S | 0.997 |
| 14:76806491:A:C | N435K | 0.997 |
| 14:76806491:A:T | N435K | 0.997 |
| 14:76806498:T:A | D433V | 0.997 |
| 14:76806589:T:C | K403E | 0.997 |
| 14:76806598:C:G | G400R | 0.997 |
| 14:76806600:C:G | R399P | 0.997 |
| 14:76806687:A:G | L370P | 0.997 |
| 14:76806707:A:C | N363K | 0.997 |
| 14:76806707:A:T | N363K | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000207153 (14:76789928 G>A), RS1000348240 (14:76813946 C>T), RS1000466767 (14:76796050 A>G,T), RS1000690432 (14:76802379 T>C), RS1000997428 (14:76802638 C>T), RS1001113955 (14:76808368 C>A), RS1001159699 (14:76792630 TA>T,TAA), RS1001345611 (14:76799416 CCCGAGT>C), RS1001359381 (14:76786446 G>C), RS1001374539 (14:76805989 A>G,T), RS1001672553 (14:76799701 T>C), RS1002012275 (14:76798471 G>A), RS1002064733 (14:76798870 C>A), RS1002134503 (14:76794608 T>C), RS1002364272 (14:76807793 G>C)
Disease associations
OMIM: gene MIM:619537 | disease phenotypes: MIM:614429
GenCC curated gene-disease
Mondo (1): ventricular septal defect (MONDO:0002070)
Orphanet (1): NON RARE IN EUROPE: Ventricular septal defect (Orphanet:1480)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001629 | Ventricular septal defect |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006345 | Heart Septal Defects, Ventricular | C14.240.400.560.540; C14.280.400.560.540; C16.131.240.400.560.540 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
46 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02914652 | PHASE4 | COMPLETED | The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. |
| NCT05688670 | PHASE4 | COMPLETED | Regional Anesthesia Following Pediatric Cardiac Surgery |
| NCT00000470 | PHASE3 | COMPLETED | Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest |
| NCT00113698 | PHASE3 | TERMINATED | Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation |
| NCT05253209 | PHASE3 | TERMINATED | A Study Evaluating the Efficacy and Safety of IV L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects |
| NCT00199771 | PHASE2 | COMPLETED | Hypertonic Saline Dextran in Pediatric Cardiac Surgery |
| NCT00556361 | PHASE2 | COMPLETED | Use of Ketamine Prior to Cardiopulmonary Bypass in Children |
| NCT00848393 | PHASE2 | COMPLETED | Measures to Lower the Stress Response in Pediatric Cardiac Surgery |
| NCT04017975 | PHASE2 | ACTIVE_NOT_RECRUITING | Optical Tissue Identification for Myocardial Architecture |
| NCT01825369 | PHASE1 | WITHDRAWN | Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow |
| NCT01915277 | PHASE1 | COMPLETED | A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics |
| NCT01120964 | PHASE1/PHASE2 | COMPLETED | Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol |
| NCT06298344 | EARLY_PHASE1 | COMPLETED | The Role of Thiamine After Transcatheter Closure in Children With Left-to-Right Shunt Congenital Heart Disease |
| NCT00005190 | Not specified | COMPLETED | Reproduction and Survival After Cardiac Defect Repair |
| NCT00005322 | Not specified | COMPLETED | Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease |
| NCT00005546 | Not specified | COMPLETED | Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease |
| NCT00006272 | Not specified | UNKNOWN | Study of Energy Expenditure in Infants With Ventricular Septal Defects |
| NCT00173186 | Not specified | UNKNOWN | Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect |
| NCT00229827 | Not specified | TERMINATED | Optimal Timing for Repair of Left to Right Shunt Lesions |
| NCT00390702 | Not specified | COMPLETED | Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System |
| NCT00583505 | Not specified | NO_LONGER_AVAILABLE | Emergency/Compassionate Use - Membranous VSD Occluder |
| NCT00583791 | Not specified | COMPLETED | Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder |
| NCT00590382 | Not specified | APPROVED_FOR_MARKETING | Emergency/Compassionate Use - Muscular VSD Occluder |
| NCT00647387 | Not specified | COMPLETED | Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study |
| NCT00890799 | Not specified | COMPLETED | Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects |
| NCT01313832 | Not specified | COMPLETED | The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension |
| NCT01480908 | Not specified | COMPLETED | Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect |
| NCT02138435 | Not specified | COMPLETED | Longterm Outcome After Ventricular Septal Defect Closure |
| NCT02361008 | Not specified | COMPLETED | A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect |
| NCT02552485 | Not specified | COMPLETED | Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions |
| NCT03127748 | Not specified | UNKNOWN | Cardiac Function After Transcatheter VSD Closure |
| NCT03684161 | Not specified | COMPLETED | Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect |
| NCT03941691 | Not specified | UNKNOWN | A Trial to Evaluate the Safety and Efficacy of a Fully Degradable Ventricular Septal Defect (VSD) Closure |
| NCT04417712 | Not specified | COMPLETED | Lifetech KONAR MFO Post-Market Clinical Follow-Up Study |
| NCT04667455 | Not specified | COMPLETED | Improving Care for Children With Congenital Heart Disease. |
| NCT04859036 | Not specified | COMPLETED | The Effect of Transcatheter Ventricular Septal Defect Closure on Heart Rate Variability Parameters |
| NCT05200910 | Not specified | COMPLETED | The Effect of Transcatheter VSD Closure on Children’s Appetite, Hormones and Growth |
| NCT05939713 | Not specified | COMPLETED | Cera™ VSD Occluder Post Market Clinical Follow-up |
| NCT06214182 | Not specified | COMPLETED | Immune Heterogeneity Before and After Cardiopulmonary Bypass in Children |
| NCT06492473 | Not specified | RECRUITING | Clinical Evaluation Of Ventricular Septal Defect (VSD) In Children at Sohag Univesity Hospital |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ventricular septal defect