ACTL9
gene geneOn this page
Also known as MGC33407
Summary
ACTL9 (actin like 9, HGNC:28494) is a protein-coding gene on chromosome 19p13.2, encoding Actin-like protein 9 (Q8TC94). Testis-specic protein that plays an important role in fusion of proacrosomal vesicles and perinuclear theca formation.
Predicted to be a structural constituent of cytoskeleton. Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; perinuclear theca; and sperm head. Implicated in spermatogenic failure 53.
Source: NCBI Gene 284382 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- Gene–disease (curated): spermatogenic failure 53 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 23
- Clinical variants (ClinVar): 76 total — 3 pathogenic
- Phenotypes (HPO): 3
- Constraint (gnomAD): pLI 0.19 (intermediate), LOEUF 1.57 (unconstrained)
- MANE Select transcript:
NM_178525
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28494 |
| Approved symbol | ACTL9 |
| Name | actin like 9 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33407 |
| Ensembl gene | ENSG00000181786 |
| Ensembl biotype | protein_coding |
| OMIM | 619251 |
| Entrez | 284382 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
MANE Select: ENST00000324436
ENST00000324436
RefSeq mRNA: 1 — MANE Select: NM_178525
NM_178525
CCDS: CCDS12207
Canonical transcript exons
ENST00000324436 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001227362 | 8697400 | 8698795 |
Expression profiles
Bgee: expression breadth broad, 28 present calls, max score 96.80.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1494 / max 146.6026, expressed in 3 samples.
Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, sperm, testis, adult organism, quadriceps femoris.
Genetic regulation across tissues (GTEx eQTL / sQTL)
ACTL9 is not an eGene in any GTEx v10 tissue: no tissue shows a variant significantly associated with its expression or splicing (q < 0.05).
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178973 | 0.0914 | 3 |
| 178972 | 0.0511 | 3 |
| 178971 | 0.0068 | 3 |
Top tissues by expression
showing 100 of 215 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 96.80 | gold quality |
| sperm | CL:0000019 | 96.51 | gold quality |
| left testis | UBERON:0004533 | 94.88 | gold quality |
| right testis | UBERON:0004534 | 94.84 | gold quality |
| testis | UBERON:0000473 | 91.73 | gold quality |
| adult organism | UBERON:0007023 | 90.98 | gold quality |
| quadriceps femoris | UBERON:0001377 | 60.42 | gold quality |
| vastus lateralis | UBERON:0001379 | 60.41 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 58.52 | gold quality |
| biceps brachii | UBERON:0001507 | 57.22 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 53.37 | gold quality |
| deltoid | UBERON:0001476 | 53.18 | gold quality |
| tibialis anterior | UBERON:0001385 | 53.12 | silver quality |
| ileal mucosa | UBERON:0000331 | 52.70 | silver quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| amniotic fluid | UBERON:0000173 | 49.55 | silver quality |
| pancreatic ductal cell | CL:0002079 | 49.44 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 47.83 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| muscle tissue | UBERON:0002385 | 46.66 | gold quality |
| jejunum | UBERON:0002115 | 45.69 | gold quality |
| cauda epididymis | UBERON:0004360 | 45.59 | silver quality |
| layer of synovial tissue | UBERON:0007616 | 43.55 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 42.73 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 42.38 | gold quality |
| upper leg skin | UBERON:0004262 | 42.01 | silver quality |
| buccal mucosa cell | CL:0002336 | 41.65 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 41.10 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 41.01 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 40.98 | gold quality |
| tongue | UBERON:0001723 | 40.79 | gold quality |
| cartilage tissue | UBERON:0002418 | 40.77 | gold quality |
| jejunal mucosa | UBERON:0000399 | 40.59 | gold quality |
| gingival epithelium | UBERON:0001949 | 40.43 | gold quality |
| bone marrow cell | CL:0002092 | 40.34 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 40.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 40.29 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 40.14 | gold quality |
| oviduct epithelium | UBERON:0004804 | 40.03 | gold quality |
| mammary duct | UBERON:0001765 | 39.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 39.95 | gold quality |
| saphenous vein | UBERON:0007318 | 39.83 | gold quality |
| parotid gland | UBERON:0001831 | 39.81 | gold quality |
| oocyte | CL:0000023 | 39.80 | gold quality |
| urethra | UBERON:0000057 | 39.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 39.79 | gold quality |
| pericardium | UBERON:0002407 | 39.77 | gold quality |
| endothelial cell | CL:0000115 | 39.75 | gold quality |
| synovial joint | UBERON:0002217 | 39.70 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 39.68 | gold quality |
| nipple | UBERON:0002030 | 39.68 | gold quality |
| bronchial epithelial cell | CL:0002328 | 39.65 | gold quality |
| decidua | UBERON:0002450 | 39.65 | gold quality |
| penis | UBERON:0000989 | 39.64 | gold quality |
| gingiva | UBERON:0001828 | 39.64 | gold quality |
| bronchus | UBERON:0002185 | 39.64 | gold quality |
| mammalian vulva | UBERON:0000997 | 39.63 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 39.63 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 39.60 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 39.57 | gold quality |
| superior surface of tongue | UBERON:0007371 | 39.56 | gold quality |
| pylorus | UBERON:0001166 | 39.55 | gold quality |
| renal medulla | UBERON:0000362 | 39.53 | gold quality |
| colonic mucosa | UBERON:0000317 | 39.51 | gold quality |
| pons | UBERON:0000988 | 39.51 | gold quality |
| thymus | UBERON:0002370 | 39.50 | gold quality |
| medulla oblongata | UBERON:0001896 | 39.48 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 39.47 | gold quality |
| cardia of stomach | UBERON:0001162 | 39.46 | gold quality |
| parietal pleura | UBERON:0002400 | 39.45 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 39.38 | gold quality |
| cerebellar vermis | UBERON:0004720 | 39.37 | gold quality |
| oral cavity | UBERON:0000167 | 39.35 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 39.35 | gold quality |
| ventral tegmental area | UBERON:0002691 | 39.35 | gold quality |
| trachea | UBERON:0003126 | 39.33 | gold quality |
| parietal lobe | UBERON:0001872 | 39.32 | gold quality |
| vena cava | UBERON:0004087 | 39.31 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 39.27 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 39.23 | gold quality |
| visceral pleura | UBERON:0002401 | 39.23 | gold quality |
| postcentral gyrus | UBERON:0002581 | 39.23 | gold quality |
| body of tongue | UBERON:0011876 | 39.22 | gold quality |
| medial globus pallidus | UBERON:0002477 | 39.18 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 39.18 | gold quality |
| globus pallidus | UBERON:0001875 | 39.15 | gold quality |
| entorhinal cortex | UBERON:0002728 | 39.05 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 39.00 | gold quality |
| corpus epididymis | UBERON:0004359 | 38.98 | gold quality |
| tibia | UBERON:0000979 | 38.93 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 38.81 | gold quality |
| seminal vesicle | UBERON:0000998 | 38.75 | gold quality |
| caput epididymis | UBERON:0004358 | 38.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.20 |
HPA expression
RNA tissue specificity: Tissue enriched
2 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Testis | tissue | 25.5 |
| Frontal cortex | tissue | 0.1 |
Regulation
Is transcription factor: no
Functional genomics
gnomAD constraint: pLI 0.187, LOEUF 1.57, missense Z -0.551 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000324436 — one region, missense o/e 1.05.
Literature-anchored findings (GeneRIF, showing 4)
- Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients (PMID:23278845)
- KIF3A and OVOL1, but not ACTL9, are involved in the development of Atopic dermatitis in the Chinese pediatric population. (PMID:26127003)
- Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice. (PMID:33626338)
- Identification of a new mutation in the ACTL9 gene in men with unexplained infertility. (PMID:38769899)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Actl9 | ENSMUSG00000092519 |
| rattus_norvegicus | Actl9b | ENSRNOG00000026033 |
| rattus_norvegicus | Actl9 | ENSRNOG00000049571 |
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1916731) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 6 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| impaired fertilization | 1 |
| abnormal spermatid morphology | 1 |
| abnormal acrosome morphology | 1 |
| detached acrosome | 1 |
| abnormal acrosome assembly | 1 |
| abnormal proacrosomal vesicle fusion | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Bos taurus | Q2T9W4 | 81.0% | Diamond |
| Debaryomyces hansenii CBS767 | Q6BXN0 | 73.9% | Diamond |
| Saccharomyces cerevisiae S288C | Q12509 | 63.2% | Diamond |
| Dictyostelium discoideum | Q54KZ7 | 42.6% | Diamond |
| Schizosaccharomyces pombe 972h- | Q9UTQ7 | 34.5% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| NFILZ | protein-coding | 105372267 |
| ZNF558 | protein-coding | 148156 |
| OR2Z1 | protein-coding | 284383 |
| MBD3L1 | protein-coding | 85509 |
| MUC16 | protein-coding | 94025 |
| MYO1F | protein-coding | 4542 |
| ADAMTS10 | protein-coding | 81794 |
| ZNF414 | protein-coding | 84330 |
Protein
Protein identifiers
Actin-like protein 9 — Q8TC94 (reviewed: Q8TC94)
All UniProt accessions (1): Q8TC94
UniProt curated annotations — full annotation on UniProt →
Function. Testis-specic protein that plays an important role in fusion of proacrosomal vesicles and perinuclear theca formation.
Subunit / interactions. Interacts with ACTL7A.
Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Acrosome. Cytoplasm. Cytoskeleton. Perinuclear theca.
Tissue specificity. Testis-specific.
Disease relevance. Spermatogenic failure 53 (SPGF53) [MIM:619258] An autosomal recessive infertility disorder characterized by impaired oocyte fertilization due to oocyte activation failure, in association with structural anomalies in sperm heads. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the actin family.
RefSeq proteins (1): NP_848620* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (11 total): sequence variant 8, chain 1, region of interest 1, sequence conflict 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TC94-F1 | 87.56 | 0.74 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): acrosome; equatorial segment
Antibody reliability (HPA): IH uncertain · IF supported
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 54 (showing top):
GOBP_SINGLE_FERTILIZATION, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_FERTILIZATION, GOCC_SECRETORY_VESICLE, GOCC_ACROSOMAL_VESICLE, chr19p13
GO Biological Process (4): acrosome assembly (GO:0001675), single fertilization (GO:0007338), fertilization (GO:0009566), cytoskeleton organization (GO:0007010)
GO Molecular Function (2): structural constituent of cytoskeleton (GO:0005200), protein binding (GO:0005515)
GO Cellular Component (5): acrosomal vesicle (GO:0001669), actin cytoskeleton (GO:0015629), perinuclear theca (GO:0033011), sperm head (GO:0061827), cytoplasmic vesicle (GO:0031410)
GO top-level categories
19 GO namespaces:
| Category | Terms |
|---|---|
| cytoskeleton | 3 |
| developmental process involved in reproduction | 1 |
| spermatid development | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| secretory granule organization | 1 |
| organelle assembly | 1 |
| fertilization | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| organelle organization | 1 |
| structural molecule activity | 1 |
| cytoskeleton organization | 1 |
| binding | 1 |
| secretory granule | 1 |
| perinuclear region of cytoplasm | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 11 annotations. The rest are phylogenetic / computational / electronic (IEA).
5 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| acrosome assembly | BP | mutant phenotype |
| fertilization | BP | direct assay |
| acrosomal vesicle | CC | direct assay |
| perinuclear theca | CC | direct assay |
| sperm head | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,631 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTL9 | PLCZ1 | Q86YW0 | 643 |
| ACTL9 | OVOL1 | O14753 | 570 |
| ACTL9 | TLE6 | Q9H808 | 551 |
| ACTL9 | DNAH17 | Q9UFH2 | 539 |
| ACTL9 | WEE2 | P0C1S8 | 531 |
| ACTL9 | OR2Z1 | Q8NG97 | 492 |
| ACTL9 | OR10A3 | P58181 | 469 |
| ACTL9 | TMEM232 | C9JQI7 | 461 |
| ACTL9 | KIF3A | Q9Y496 | 441 |
| ACTL9 | NLRP5 | P59047 | 432 |
| ACTL9 | EMSY | Q7Z589 | 430 |
| ACTL9 | ZGPAT | Q8N5A5 | 385 |
| ACTL9 | ROPN1B | Q9BZX4 | 360 |
| ACTL9 | IQCN | Q9H0B3 | 359 |
| ACTL9 | SLC25A46 | Q96AG3 | 352 |
IntAct
BioGRID (3 interactions; top human partners by supporting records): CUL3 (Affinity Capture-MS), POLI (Reconstituted Complex), QRICH1 (Two-hybrid)
Disease & clinical
Genetic variants
Variant evidence for ACTL9: 76 ClinVar records (3 pathogenic / likely pathogenic); 23 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
Showing all 3 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 1048625 | NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu) | Pathogenic | no assertion criteria provided | 1 |
| 1048626 | NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu) | Pathogenic | no assertion criteria provided | 1 |
| 1048627 | NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter) | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore ACTL9’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 51):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:8698178 | donor_gain | 0.5200 | |
| 19:8698174 | donor_gain | 0.4000 | |
| 19:8697714 | donor_gain | 0.3600 | |
| 19:8698072–8698073 | acceptor_loss | 0.3400 | 6 |
| 19:8698074 | acceptor_loss | 0.3300 | |
| 19:8697925 | donor_gain | 0.3200 | |
| 19:8697730 | donor_gain | 0.3100 | |
| 19:8697829 | donor_gain | 0.3100 | |
| 19:8698354 | acceptor_gain | 0.2600 | |
| 19:8698514–8698515 | donor_loss | 0.2600 | 5 |
HPA cancer prognostics
RNA cancer specificity: Not detected
Disease associations
OMIM: gene MIM:619251 | disease phenotypes: MIM:619258
GenCC curated gene-disease
2 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| spermatogenic failure 53 | Strong | Autosomal recessive | 2 |
| non-syndromic male infertility due to sperm motility disorder | Supportive | Autosomal recessive |
Mondo (2): spermatogenic failure 53 (MONDO:0030989), (MONDO:0017173)
HPO phenotypes
3 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0032562 | Tapered sperm head |
GWAS associations
23 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST008363_8 | Offspring birth weight | 2e-25 |
| GCST008363_129 | Offspring birth weight | 6e-25 |
| GCST004861_30 | Itch intensity from mosquito bite | 4e-15 |
| GCST003184_11 | Atopic dermatitis | 5e-12 |
| GCST004862_191 | Itch intensity from mosquito bite adjusted by bite size | 8e-12 |
| GCST003184_1 | Atopic dermatitis | 2e-11 |
| GCST010984_45 | Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis) | 5e-11 |
| GCST010985_49 | Allergic disease (asthma, hay fever and/or eczema) (age of onset) | 5e-11 |
| GCST007800_56 | Asthma (childhood onset) | 5e-10 |
| GCST003995_5 | Tonsillectomy | 1e-9 |
| GCST004865_20 | Itch intensity from mosquito bite adjusted by bite size | 1e-9 |
| GCST005014_100 | Tonsillectomy | 1e-9 |
| GCST004862_157 | Itch intensity from mosquito bite adjusted by bite size | 5e-9 |
| GCST001363_2 | Atopic dermatitis | 7e-9 |
| GCST008362_12 | Birth weight | 1e-8 |
| GCST008362_124 | Birth weight | 1e-8 |
| GCST005146_51 | Birth weight | 2e-8 |
| GCST90007329_1 | circulating leptin levels adjusted for BMI | 2e-7 |
| GCST90007323_1 | circulating leptin levels adjusted for BMI | 4e-7 |
| GCST90007326_1 | circulating leptin levels adjusted for BMI | 7e-7 |
| GCST007798_3 | Asthma | 9e-7 |
| GCST90007320_1 | circulating leptin levels adjusted for BMI | 9e-7 |
| GCST004523_10 | Resting metabolic rate | 9e-6 |
EFO canonical traits (from GWAS)
8 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0008004 | resting metabolic rate measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0004847 | age at onset |
| EFO:0007793 | BMI-adjusted leptin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| terbufos | increases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Fonofos | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
12 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | Phase 3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | Phase 2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | Phase 2 | 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 |
| NCT00637364 | Phase 1/2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | Phase 1/2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | Early Phase 1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | Early Phase 1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT07628634 | Early Phase 1 | RECRUITING | Feasibility Study on the Effect of a Methionine-Reduced Diet on Serum Levels in Pts w/ Solid Tumors |
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Related Atlas pages
- Associated diseases: spermatogenic failure 53
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atopic eczema, spermatogenic failure 53