CDH19
geneOn this page
Also known as CDH7
Summary
CDH19 (cadherin 19, HGNC:1758) is a protein-coding gene on chromosome 18q22.1, encoding Cadherin-19 (Q9H159). Cadherins are calcium-dependent cell adhesion proteins.
This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene.
Source: NCBI Gene 28513 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 302 total — 1 pathogenic
- MANE Select transcript:
NM_021153
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1758 |
| Approved symbol | CDH19 |
| Name | cadherin 19 |
| Location | 18q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CDH7 |
| Ensembl gene | ENSG00000071991 |
| Ensembl biotype | protein_coding |
| OMIM | 603016 |
| Entrez | 28513 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 nonsense_mediated_decay
ENST00000262150, ENST00000454642, ENST00000540086, ENST00000579658, ENST00000580157, ENST00000877570, ENST00000877571, ENST00000877572, ENST00000954985, ENST00000954986
RefSeq mRNA: 2 — MANE Select: NM_021153
NM_001271028, NM_021153
CCDS: CCDS11994, CCDS59325
Canonical transcript exons
ENST00000262150 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000950297 | 66554405 | 66554524 |
| ENSE00000950298 | 66551094 | 66551258 |
| ENSE00000950299 | 66544719 | 66544903 |
| ENSE00000950300 | 66543971 | 66544224 |
| ENSE00000950301 | 66534986 | 66535107 |
| ENSE00000950304 | 66501083 | 66505302 |
| ENSE00000995682 | 66603954 | 66604090 |
| ENSE00001103287 | 66568416 | 66568710 |
| ENSE00001103290 | 66511568 | 66511685 |
| ENSE00001103293 | 66508995 | 66509246 |
| ENSE00001103299 | 66529845 | 66529966 |
| ENSE00003787254 | 66572010 | 66572316 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 99.43.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9577 / max 379.9191, expressed in 242 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172297 | 1.4054 | 215 |
| 172298 | 0.7568 | 179 |
| 172299 | 0.5919 | 173 |
| 172301 | 0.1211 | 53 |
| 172300 | 0.0601 | 29 |
| 172302 | 0.0223 | 8 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trigeminal ganglion | UBERON:0001675 | 99.43 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.29 | gold quality |
| olfactory bulb | UBERON:0002264 | 98.87 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.90 | gold quality |
| nerve | UBERON:0001021 | 96.67 | gold quality |
| tibial nerve | UBERON:0001323 | 96.67 | gold quality |
| myocardium | UBERON:0002349 | 95.14 | gold quality |
| sural nerve | UBERON:0015488 | 94.86 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.73 | gold quality |
| pericardium | UBERON:0002407 | 94.45 | gold quality |
| cardiac atrium | UBERON:0002081 | 92.84 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 92.55 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.42 | gold quality |
| corpus callosum | UBERON:0002336 | 90.44 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.11 | gold quality |
| vena cava | UBERON:0004087 | 89.81 | gold quality |
| heart | UBERON:0000948 | 88.07 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 87.11 | gold quality |
| left coronary artery | UBERON:0001626 | 86.59 | gold quality |
| seminal vesicle | UBERON:0000998 | 86.55 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 86.26 | gold quality |
| coronary artery | UBERON:0001621 | 86.17 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.89 | gold quality |
| parotid gland | UBERON:0001831 | 85.73 | gold quality |
| endothelial cell | CL:0000115 | 85.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.66 | gold quality |
| inferior olivary complex | UBERON:0002127 | 85.65 | gold quality |
| heart left ventricle | UBERON:0002084 | 85.54 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 85.37 | gold quality |
| penis | UBERON:0000989 | 84.82 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 4098.04 |
| E-MTAB-11268 | yes | 2550.55 |
| E-GEOD-135922 | yes | 1748.43 |
| E-HCAD-36 | yes | 1056.76 |
| E-HCAD-11 | yes | 34.04 |
| E-MTAB-8410 | yes | 28.79 |
| E-CURD-46 | yes | 17.64 |
| E-MTAB-9543 | no | 1476.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
141 targeting CDH19, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
Literature-anchored findings (GeneRIF, showing 2)
- Gene expression profiling of Glioblastoma stem-like cells has shown CDH19 to be an exciting new target for drug development and study of glioblastoma multiforme tumorigenesis (PMID:25361488)
- The cadherin protein CDH19 mediates cervical carcinoma progression by regulating AKT/NF-kappaB signaling. (PMID:38052007)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cdh19 | ENSMUSG00000047216 |
| rattus_norvegicus | Cdh19 | ENSRNOG00000029841 |
Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)
Protein
Protein identifiers
Cadherin-19 — Q9H159 (reviewed: Q9H159)
All UniProt accessions (4): Q9H159, F8VVI9, J3KTP3, J3QS15
UniProt curated annotations — full annotation on UniProt →
Function. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in many tissues, with the exception of uterus.
Domain organisation. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H159-1 | 1 | yes |
| Q9H159-2 | 2 |
RefSeq proteins (2): NP_001257957, NP_066976* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000233 | Cadherin_Y-type_LIR | Domain |
| IPR002126 | Cadherin-like_dom | Domain |
| IPR015919 | Cadherin-like_sf | Homologous_superfamily |
| IPR020894 | Cadherin_CS | Conserved_site |
| IPR027397 | Catenin-bd_sf | Homologous_superfamily |
| IPR039808 | Cadherin | Family |
Pfam: PF00028, PF01049
UniProt features (22 total): glycosylation site 8, domain 5, splice variant 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H159-F1 | 78.14 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (8): 57, 74, 419, 437, 508, 515, 516, 534
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-9764302 | Regulation of CDH19 Expression and Function |
| R-HSA-1500931 | Cell-Cell communication |
| R-HSA-418990 | Adherens junctions interactions |
| R-HSA-421270 | Cell-cell junction organization |
| R-HSA-446728 | Cell junction organization |
| R-HSA-9759476 | Regulation of Homotypic Cell-Cell Adhesion |
| R-HSA-9764260 | Regulation of Expression and Function of Type II Classical Cadherins |
MSigDB gene sets: 227 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, BENPORATH_ES_WITH_H3K27ME3, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, STOSSI_RESPONSE_TO_ESTRADIOL, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, AACTTT_UNKNOWN, chr18q22, SABATES_COLORECTAL_ADENOMA_DN, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_ADHERENS_JUNCTION_ORGANIZATION, VECCHI_GASTRIC_CANCER_EARLY_DN
GO Biological Process (9): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), homophilic cell-cell adhesion (GO:0007156), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), cell-cell adhesion mediated by cadherin (GO:0044331), cell adhesion (GO:0007155), cell-cell adhesion (GO:0098609)
GO Molecular Function (4): calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), cadherin binding (GO:0045296), metal ion binding (GO:0046872)
GO Cellular Component (4): plasma membrane (GO:0005886), adherens junction (GO:0005912), catenin complex (GO:0016342), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Regulation of Expression and Function of Type II Classical Cadherins | 1 |
| Cell-cell junction organization | 1 |
| Cell junction organization | 1 |
| Cell-Cell communication | 1 |
| Adherens junctions interactions | 1 |
| Regulation of Homotypic Cell-Cell Adhesion | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 3 |
| cell-cell junction organization | 2 |
| anatomical structure morphogenesis | 1 |
| cell junction assembly | 1 |
| cell motility | 1 |
| cellular process | 1 |
| cell adhesion | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| cell adhesion molecule binding | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| extrinsic component of plasma membrane | 1 |
| plasma membrane protein complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1024 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDH19 | CDH15 | P55291 | 668 |
| CDH19 | CDH2 | P19022 | 650 |
| CDH19 | CDH10 | Q9Y6N8 | 632 |
| CDH19 | CDH6 | P55285 | 576 |
| CDH19 | CDH4 | P55283 | 519 |
| CDH19 | SMARCA4 | P51532 | 497 |
| CDH19 | CTNNB1 | P35222 | 464 |
| CDH19 | CDH8 | P55286 | 461 |
| CDH19 | CDH3 | P22223 | 460 |
| CDH19 | CDH12 | P55289 | 459 |
| CDH19 | PCDH1 | Q08174 | 453 |
| CDH19 | SOX10 | P56693 | 441 |
| CDH19 | PCDH15 | Q96QU1 | 430 |
| CDH19 | CDH18 | Q13634 | 425 |
| CDH19 | CDH9 | Q9ULB4 | 422 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDH19 | H2BC12L | psi-mi:“MI:0915”(physical association) | 0.400 |
| CDH19 | HIST2H2BF | psi-mi:“MI:0915”(physical association) | 0.400 |
| CDH19 | TADA2A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (50): CDH19 (Synthetic Lethality), FBXO45 (Affinity Capture-MS), CSRP2BP (Affinity Capture-MS), MARK1 (Affinity Capture-MS), YEATS2 (Affinity Capture-MS), KLHDC3 (Affinity Capture-MS), MYCBP2 (Affinity Capture-MS), ZZZ3 (Affinity Capture-MS), TADA2A (Affinity Capture-MS), MARK3 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), MBIP (Affinity Capture-MS), C15orf39 (Affinity Capture-MS), TADA3 (Affinity Capture-MS), TPP2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M2BIB6, F1QSQ0, F8W3X3, H2EQR6, O35902, O54800, O55111, O93319, P32926, P33545, P55280, P55285, P55286, P55287, P55288, P55289, P55292, P55849, P55850, P70407, P70408, P79995, P97291, P97326, Q01107, Q02413, Q02487, Q08554, Q08DJ5, Q13634, Q14126, Q14574, Q28060, Q3SWX5, Q5DWV1, Q5RJH3, Q61495, Q68SP4, Q6W3B0, Q7TMD7
Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, F1QSQ0, O02840, O35902, O54800, O55075, O55111, O93319, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33151, P33152, P33545, P39038, P55280, P55283, P55284, P55285, P55286
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| calcium(2+) | “up-regulates activity” | CDH19 | “chemical activation” |
| CDH19 | “up-regulates activity” | CTNNB1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
302 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 218 |
| Likely benign | 21 |
| Benign | 47 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146120 | GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1 | Pathogenic |
SpliceAI
4335 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:65809995:GTGG:G | donor_gain | 1.0000 |
| 18:65809999:GT:G | donor_loss | 1.0000 |
| 18:65810000:TAA:T | donor_loss | 1.0000 |
| 18:65814438:T:TA | acceptor_gain | 1.0000 |
| 18:65814600:GACAG:G | donor_gain | 1.0000 |
| 18:65814601:ACAG:A | donor_loss | 1.0000 |
| 18:65814602:CAGGT:C | donor_loss | 1.0000 |
| 18:65814603:AG:A | donor_loss | 1.0000 |
| 18:65814604:GGT:G | donor_loss | 1.0000 |
| 18:65814605:GTAAA:G | donor_loss | 1.0000 |
| 18:65814606:T:A | donor_loss | 1.0000 |
| 18:65822246:GAA:G | donor_gain | 1.0000 |
| 18:65822247:AA:A | donor_gain | 1.0000 |
| 18:65822247:AAGTA:A | donor_loss | 1.0000 |
| 18:65822248:AG:A | donor_loss | 1.0000 |
| 18:65822249:G:GG | donor_gain | 1.0000 |
| 18:65822250:TAAGT:T | donor_loss | 1.0000 |
| 18:65824636:T:G | acceptor_gain | 1.0000 |
| 18:65824639:CACAG:C | acceptor_loss | 1.0000 |
| 18:65824640:A:AG | acceptor_gain | 1.0000 |
| 18:65824640:ACAG:A | acceptor_gain | 1.0000 |
| 18:65824640:ACAGG:A | acceptor_gain | 1.0000 |
| 18:65824641:C:G | acceptor_gain | 1.0000 |
| 18:65824641:CAG:C | acceptor_loss | 1.0000 |
| 18:65824642:A:AG | acceptor_gain | 1.0000 |
| 18:65824642:AG:A | acceptor_gain | 1.0000 |
| 18:65824642:AGG:A | acceptor_gain | 1.0000 |
| 18:65824643:G:A | acceptor_gain | 1.0000 |
| 18:65824643:G:GA | acceptor_gain | 1.0000 |
| 18:65824643:GGG:G | acceptor_gain | 1.0000 |
AlphaMissense
5141 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:66529900:G:T | P468H | 0.995 |
| 18:66534997:G:T | A442D | 0.995 |
| 18:66544828:T:G | D284A | 0.993 |
| 18:66551252:A:T | I206K | 0.993 |
| 18:66554500:G:T | A172E | 0.992 |
| 18:66509238:C:G | A529P | 0.991 |
| 18:66544732:A:T | V316D | 0.991 |
| 18:66544834:T:G | D282A | 0.991 |
| 18:66551108:G:T | P254H | 0.991 |
| 18:66551187:C:G | D228H | 0.991 |
| 18:66568463:A:G | F148S | 0.991 |
| 18:66509126:A:G | L566P | 0.990 |
| 18:66551192:G:T | A226D | 0.989 |
| 18:66568462:G:C | F148L | 0.989 |
| 18:66568462:G:T | F148L | 0.989 |
| 18:66568464:A:G | F148L | 0.989 |
| 18:66568478:T:G | D143A | 0.989 |
| 18:66509237:G:T | A529D | 0.988 |
| 18:66511666:G:T | A493E | 0.988 |
| 18:66544828:T:A | D284V | 0.988 |
| 18:66551252:A:C | I206R | 0.988 |
| 18:66551258:C:A | G204V | 0.988 |
| 18:66551258:C:T | G204E | 0.988 |
| 18:66554425:A:G | F197S | 0.988 |
| 18:66554515:A:T | V167D | 0.988 |
| 18:66568616:C:T | G97D | 0.988 |
| 18:66534998:C:G | A442P | 0.987 |
| 18:66544840:G:T | A280E | 0.987 |
| 18:66551144:A:T | V242E | 0.987 |
| 18:66551193:C:G | A226P | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000002045 (18:66524394 A>G), RS1000010571 (18:66585441 A>G), RS1000017685 (18:66564811 C>T), RS1000030626 (18:66577537 C>G), RS1000049159 (18:66591172 G>A), RS1000056036 (18:66524636 A>T), RS1000099518 (18:66554647 C>A,G,T), RS1000105089 (18:66513220 A>G), RS1000105673 (18:66555695 G>T), RS1000120275 (18:66591310 A>G), RS1000186247 (18:66590044 A>G,T), RS1000253944 (18:66574320 T>A,G), RS1000268874 (18:66573720 A>G), RS1000273512 (18:66561597 TG>T), RS1000285078 (18:66501961 A>G)
Disease associations
OMIM: gene MIM:603016 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001776_8 | Cardiac Troponin-T levels | 6.000000e-06 |
| GCST002178_6 | Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | 7.000000e-06 |
| GCST002587_30 | Blood pressure (smoking interaction) | 3.000000e-07 |
| GCST003808_4 | Non-response to selective serotonin reuptake inhibitors and depression | 2.000000e-06 |
| GCST004639_5 | Prudent dietary pattern | 2.000000e-06 |
| GCST004904_201 | Body mass index | 3.000000e-08 |
| GCST005666_1 | Fractional excretion of metabolites in chronic kidney disease | 3.000000e-08 |
| GCST006427_24 | Depression in smokers | 4.000000e-06 |
| GCST006941_49 | Irritable mood | 1.000000e-08 |
| GCST007576_49 | Chronotype | 1.000000e-08 |
| GCST009391_2085 | Metabolite levels | 9.000000e-07 |
| GCST009391_534 | Metabolite levels | 4.000000e-06 |
| GCST010988_9 | Adult body size | 4.000000e-11 |
| GCST011140_1 | Glucagon levels in response to oral glucose tolerance test (decremental area under the curve for 0-30 minutes) | 1.000000e-06 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006526 | pack-years measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0008111 | diet measurement |
| EFO:0004340 | body mass index |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0009594 | irritability measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0010373 | phosphatidylcholine 32:1 measurement |
| EFO:0010528 | quinolinic acid measurement |
| EFO:0008463 | glucagon measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
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 |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 3 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol A | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Copper | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
86 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma, chemotherapy-induced alopecia, mood disorder