WNT8A
geneOn this page
Also known as WNT8D
Summary
WNT8A (Wnt family member 8A, HGNC:12788) is a protein-coding gene on chromosome 5q31.2, encoding Protein Wnt-8a (Q9H1J5). Ligand for members of the frizzled family of seven transmembrane receptors.
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 7478 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 56 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001300939
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12788 |
| Approved symbol | WNT8A |
| Name | Wnt family member 8A |
| Location | 5q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | WNT8D |
| Ensembl gene | ENSG00000061492 |
| Ensembl biotype | protein_coding |
| OMIM | 606360 |
| Entrez | 7478 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay
ENST00000361560, ENST00000398754, ENST00000504809, ENST00000506684
RefSeq mRNA: 3 — MANE Select: NM_001300939
NM_001300938, NM_001300939, NM_058244
CCDS: CCDS43368, CCDS75311
Canonical transcript exons
ENST00000506684 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000764340 | 138087806 | 138087931 |
| ENSE00000764341 | 138088927 | 138089069 |
| ENSE00000973490 | 138084498 | 138084636 |
| ENSE00002070199 | 138090528 | 138091541 |
| ENSE00002073821 | 138084033 | 138084283 |
Expression profiles
Bgee: expression breadth broad, 33 present calls, max score 68.96.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1947 / max 31.5886, expressed in 52 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58745 | 0.1236 | 40 |
| 58744 | 0.0711 | 28 |
Top tissues by expression
236 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 68.96 | gold quality |
| pancreatic ductal cell | CL:0002079 | 62.29 | silver quality |
| tibialis anterior | UBERON:0001385 | 62.01 | silver quality |
| ileal mucosa | UBERON:0000331 | 59.18 | silver quality |
| sperm | CL:0000019 | 58.13 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 57.78 | gold quality |
| tibia | UBERON:0000979 | 57.35 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 54.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 54.76 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| nucleus accumbens | UBERON:0001882 | 54.18 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| deltoid | UBERON:0001476 | 53.47 | gold quality |
| putamen | UBERON:0001874 | 51.97 | gold quality |
| parietal pleura | UBERON:0002400 | 51.18 | gold quality |
| caudate nucleus | UBERON:0001873 | 50.78 | gold quality |
| visceral pleura | UBERON:0002401 | 50.76 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| medial globus pallidus | UBERON:0002477 | 49.65 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 49.42 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 49.34 | gold quality |
| quadriceps femoris | UBERON:0001377 | 49.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 48.99 | gold quality |
| globus pallidus | UBERON:0001875 | 48.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 48.88 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 48.23 | gold quality |
| upper leg skin | UBERON:0004262 | 48.18 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 48.01 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 415.96 |
| E-ANND-3 | yes | 2.95 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PRDM1
miRNA regulators (miRDB)
29 targeting WNT8A, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-26B-3P | 98.71 | 67.49 | 1102 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-6516-5P | 98.42 | 70.19 | 1551 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-346 | 97.01 | 66.97 | 662 |
Literature-anchored findings (GeneRIF, showing 4)
- Expression and regulation of WNT8A mRNA in human tumor cell lines (PMID:11956596)
- the WNT8A gene is involved in the susceptibility to HSCR, and plays an important role in the occurrence and development of Hirschsprung’s disease. (PMID:23836442)
- Here, we show that Wnt/planar cell polarity (PCP) autocrine signaling controls the emergence of cytonemes, and that cytonemes subsequently control paracrine Wnt/beta-catenin signal activation. Upon binding of the Wnt family member Wnt8a, the receptor tyrosine kinase Ror2 becomes activated. (PMID:30060804)
- Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion. (PMID:33357447)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wnt8a | ENSDARG00000052910 |
| danio_rerio | wnt8a | ENSDARG00000078507 |
| mus_musculus | Wnt8a | ENSMUSG00000012282 |
| rattus_norvegicus | Wnt8a | ENSRNOG00000020157 |
| drosophila_melanogaster | Wnt2 | FBGN0004360 |
| drosophila_melanogaster | Wnt5 | FBGN0010194 |
| drosophila_melanogaster | Wnt10 | FBGN0031903 |
| caenorhabditis_elegans | WBGENE00000857 | |
| caenorhabditis_elegans | WBGENE00000858 | |
| caenorhabditis_elegans | lin-44 | WBGENE00003029 |
Paralogs (18): WNT16 (ENSG00000002745), WNT8B (ENSG00000075290), WNT11 (ENSG00000085741), WNT2 (ENSG00000105989), WNT3 (ENSG00000108379), WNT5B (ENSG00000111186), WNT5A (ENSG00000114251), WNT6 (ENSG00000115596), WNT1 (ENSG00000125084), WNT2B (ENSG00000134245), WNT10A (ENSG00000135925), WNT9A (ENSG00000143816), WNT3A (ENSG00000154342), WNT7A (ENSG00000154764), WNT9B (ENSG00000158955), WNT4 (ENSG00000162552), WNT10B (ENSG00000169884), WNT7B (ENSG00000188064)
Protein
Protein identifiers
Protein Wnt-8a — Q9H1J5 (reviewed: Q9H1J5)
Alternative names: Protein Wnt-8d
All UniProt accessions (2): Q9H1J5, D6RF94
UniProt curated annotations — full annotation on UniProt →
Function. Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning.
Subunit / interactions. Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity. The complex with AFM may represent the physiological form in body fluids.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Post-translational modifications. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT8A.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the Wnt family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H1J5-1 | 1 | yes |
| Q9H1J5-2 | 2 | |
| Q9H1J5-3 | 3 |
RefSeq proteins (3): NP_001287867, NP_001287868, NP_490645 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005817 | Wnt | Family |
| IPR013301 | Wnt8 | Family |
| IPR018161 | Wnt_CS | Conserved_site |
| IPR034312 | Protein_Wnt-8A/8C | Family |
| IPR043158 | Wnt_C | Homologous_superfamily |
Pfam: PF00110
UniProt features (40 total): disulfide bond 11, helix 8, strand 7, turn 6, glycosylation site 3, splice variant 2, signal peptide 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7KC4 | ELECTRON MICROSCOPY | 3.19 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H1J5-F1 | 83.78 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 186
Disulfide bonds (11): 182–189, 259–297, 275–290, 294–336, 312–327, 314–324, 319–320, 54–65, 104–112, 114–132, 180–194
Glycosylation sites (3): 103, 262, 281
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-201681 | TCF dependent signaling in response to WNT |
| R-HSA-3238698 | WNT ligand biogenesis and trafficking |
| R-HSA-373080 | Class B/2 (Secretin family receptors) |
| R-HSA-4641262 | Disassembly of the destruction complex and recruitment of AXIN to the membrane |
MSigDB gene sets: 122 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_AXIS_SPECIFICATION, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, KEGG_PATHWAYS_IN_CANCER, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_LIPID, GOMF_CYTOKINE_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, GOBP_MESENCHYME_DEVELOPMENT, GOBP_ANTERIOR_POSTERIOR_AXIS_SPECIFICATION
GO Biological Process (11): anterior/posterior axis specification (GO:0009948), dorsal/ventral axis specification (GO:0009950), neural crest cell fate commitment (GO:0014034), neuron differentiation (GO:0030182), response to retinoic acid (GO:0032526), cell fate commitment (GO:0045165), positive regulation of transcription by RNA polymerase II (GO:0045944), canonical Wnt signaling pathway (GO:0060070), secondary palate development (GO:0062009), multicellular organism development (GO:0007275), Wnt signaling pathway (GO:0016055)
GO Molecular Function (4): frizzled binding (GO:0005109), cytokine activity (GO:0005125), receptor ligand activity (GO:0048018), signaling receptor binding (GO:0005102)
GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Signaling by WNT | 2 |
| GPCR ligand binding | 1 |
| TCF dependent signaling in response to WNT | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| axis specification | 2 |
| cell differentiation | 2 |
| anterior/posterior pattern specification | 1 |
| dorsal/ventral pattern formation | 1 |
| neural crest formation | 1 |
| neural crest cell differentiation | 1 |
| stem cell fate commitment | 1 |
| generation of neurons | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| cellular developmental process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| Wnt signaling pathway | 1 |
| roof of mouth development | 1 |
| multicellular organismal process | 1 |
| anatomical structure development | 1 |
| cell surface receptor signaling pathway | 1 |
| G protein-coupled receptor binding | 1 |
| receptor ligand activity | 1 |
| signaling receptor binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| protein binding | 1 |
| cellular anatomical structure | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1046 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WNT8A | LRP5 | O75197 | 708 |
| WNT8A | LRP6 | O75581 | 702 |
| WNT8A | FZD8 | Q9H461 | 677 |
| WNT8A | FZD4 | Q9ULV1 | 676 |
| WNT8A | RYK | P34925 | 663 |
| WNT8A | FZD5 | Q13467 | 656 |
| WNT8A | FZD9 | O00144 | 640 |
| WNT8A | CTNNB1 | P35222 | 579 |
| WNT8A | DKK1 | O94907 | 574 |
| WNT8A | ROR2 | Q01974 | 541 |
| WNT8A | FNBP1L | Q5T0N5 | 508 |
| WNT8A | FZD1 | Q9UP38 | 507 |
| WNT8A | AXIN2 | Q9Y2T1 | 490 |
| WNT8A | FZD2 | Q14332 | 476 |
| WNT8A | AXIN1 | O15169 | 466 |
| WNT8A | WNT10B | O00744 | 466 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WNT8A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT8A | WLS | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| WNT8A | STS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (6): WNT8A (Affinity Capture-MS), WNT8A (Affinity Capture-MS), STS (Affinity Capture-MS), TMPPE (Affinity Capture-MS), KCNJ8 (Affinity Capture-MS), WNT8A (Two-hybrid)
ESM2 similar proteins: A4D7S0, A8XEH1, O00755, O14904, O15978, O42280, P09544, P24383, P28026, P28047, P28107, P28111, P28130, P28144, P28465, P31291, P34888, P34889, P51028, P51029, P51030, P56706, Q07DW8, Q07DX7, Q07DY7, Q09YI4, Q09YJ6, Q10459, Q1KYK4, Q1KYK5, Q1KYK6, Q1KYK7, Q1KYK9, Q1KYL1, Q1KYL3, Q27886, Q2IBB0, Q2IBE2, Q2QL76, Q2QL96
Diamond homologs: A0M8S1, A0M8T2, A1X153, A4D7S0, A8XEH1, B2GUT4, O00755, O13267, O96014, P09544, P17553, P21552, P22725, P24383, P27467, P28047, P28105, P28106, P28108, P28111, P28116, P28127, P28135, P28138, P28143, P28465, P28466, P31283, P31284, P31285, P31286, P31287, P31288, P31289, P31290, P31292, P41221, P47793, P48615, P49337
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WNT8A | up-regulates | FZD3 | binding |
| WNT8A | up-regulates | LRP5 | binding |
| SOSTDC1 | “down-regulates activity” | WNT8A | |
| EXT1 | “up-regulates activity” | WNT8A | |
| FRZB | down-regulates | WNT8A | binding |
| WIF1 | down-regulates | WNT8A | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
954 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:138084632:AAGTG:A | donor_gain | 1.0000 |
| 5:138084634:GTG:G | donor_gain | 1.0000 |
| 5:138084635:TG:T | donor_gain | 1.0000 |
| 5:138084636:GG:G | donor_gain | 1.0000 |
| 5:138084637:G:GG | donor_gain | 1.0000 |
| 5:138084637:GT:G | donor_loss | 1.0000 |
| 5:138084638:T:G | donor_loss | 1.0000 |
| 5:138087801:CAAA:C | acceptor_loss | 1.0000 |
| 5:138087802:A:AG | acceptor_gain | 1.0000 |
| 5:138087803:A:G | acceptor_gain | 1.0000 |
| 5:138087804:A:G | acceptor_gain | 1.0000 |
| 5:138087804:AGC:A | acceptor_loss | 1.0000 |
| 5:138087805:G:GC | acceptor_gain | 1.0000 |
| 5:138087927:AACAG:A | donor_gain | 1.0000 |
| 5:138087928:ACAG:A | donor_gain | 1.0000 |
| 5:138087928:ACAGG:A | donor_loss | 1.0000 |
| 5:138087929:CAG:C | donor_gain | 1.0000 |
| 5:138087929:CAGGT:C | donor_loss | 1.0000 |
| 5:138087930:AG:A | donor_gain | 1.0000 |
| 5:138087931:GG:G | donor_gain | 1.0000 |
| 5:138087931:GGTA:G | donor_loss | 1.0000 |
| 5:138087932:G:GG | donor_gain | 1.0000 |
| 5:138088921:A:AG | acceptor_gain | 1.0000 |
| 5:138088922:T:G | acceptor_gain | 1.0000 |
| 5:138088922:TATAG:T | acceptor_loss | 1.0000 |
| 5:138088923:ATAG:A | acceptor_gain | 1.0000 |
| 5:138088924:TA:T | acceptor_loss | 1.0000 |
| 5:138088925:AG:A | acceptor_gain | 1.0000 |
| 5:138088925:AGG:A | acceptor_loss | 1.0000 |
| 5:138088925:AGGAG:A | acceptor_gain | 1.0000 |
AlphaMissense
2455 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:138090964:T:G | F316C | 0.999 |
| 5:138084584:G:C | W63C | 0.998 |
| 5:138084584:G:T | W63C | 0.998 |
| 5:138090963:T:C | F316L | 0.998 |
| 5:138090965:C:A | F316L | 0.998 |
| 5:138090965:C:G | F316L | 0.998 |
| 5:138087832:G:C | A90P | 0.997 |
| 5:138087844:G:C | A94P | 0.997 |
| 5:138088946:G:C | W129C | 0.997 |
| 5:138088946:G:T | W129C | 0.997 |
| 5:138090971:G:C | W318C | 0.997 |
| 5:138090971:G:T | W318C | 0.997 |
| 5:138084582:T:A | W63R | 0.996 |
| 5:138084582:T:C | W63R | 0.996 |
| 5:138087874:T:A | C104S | 0.996 |
| 5:138087875:G:C | C104S | 0.996 |
| 5:138088974:G:T | G139W | 0.996 |
| 5:138090561:T:A | C182S | 0.996 |
| 5:138090562:G:C | C182S | 0.996 |
| 5:138084555:T:A | C54S | 0.995 |
| 5:138084556:G:C | C54S | 0.995 |
| 5:138087876:T:G | C104W | 0.995 |
| 5:138088940:G:C | W127C | 0.995 |
| 5:138088940:G:T | W127C | 0.995 |
| 5:138088953:T:A | C132S | 0.995 |
| 5:138088954:G:C | C132S | 0.995 |
| 5:138089051:C:A | N164K | 0.995 |
| 5:138089051:C:G | N164K | 0.995 |
| 5:138090597:T:A | C194S | 0.995 |
| 5:138090598:G:C | C194S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000010025 (5:138088385 C>G), RS1000515504 (5:138083156 C>G), RS1000576408 (5:138075509 G>A), RS1000620912 (5:138089939 G>A), RS1000658499 (5:138076560 A>G), RS1000783102 (5:138081598 G>A), RS1001179637 (5:138082870 C>A), RS1001663492 (5:138075508 C>T), RS1001846707 (5:138089432 T>C), RS1002353008 (5:138082618 G>A), RS1002393000 (5:138081552 A>G), RS1002618682 (5:138079067 G>C), RS1002630018 (5:138078710 C>G,T), RS1002681526 (5:138092632 T>C), RS1003189305 (5:138085773 G>T)
Disease associations
OMIM: gene MIM:606360 | disease phenotypes: MIM:300633, MIM:135700
GenCC curated gene-disease
Mondo (2): hypospadias (MONDO:0005345), congenital fibrosis of extraocular muscles (MONDO:0007614)
Orphanet (2): Congenital fibrosis of extraocular muscles (Orphanet:45358), OBSOLETE: Familial hypospadias (Orphanet:440)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000047 | Hypospadias |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001499_5 | Atrial fibrillation | 3.000000e-07 |
| GCST004297_4 | Atrial fibrillation | 1.000000e-08 |
| GCST004521_66 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST005351_18 | Carboplatin disposition in epthelial ovarian cancer | 4.000000e-06 |
| GCST006061_7 | Atrial fibrillation | 3.000000e-30 |
| GCST006414_139 | Atrial fibrillation | 1.000000e-35 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007021 | Hypospadias | C12.050.351.875.466; C12.100.500.494.400; C12.200.294.494.400; C12.200.706.516; C12.800.516; C16.131.939.516 |
| C580012 | congenital fibrosis of the extraocular muscles (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Microplastics | decreases expression, increases abundance | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Polystyrenes | decreases expression, increases abundance | 1 |
| Valproic Acid | increases expression | 1 |
Clinical trials (associated diseases)
89 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02848157 | PHASE4 | COMPLETED | Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery |
| NCT02861950 | PHASE4 | COMPLETED | Does Caudal Block Increase the Incidence of Urethrocutaneous Fistula Formation Following Hypospadias Repair in Infants? |
| NCT03902249 | PHASE4 | COMPLETED | Effect of Intravenous Dexamethasone With Pudendal Nerve Block on Postoperative Pain in Pediatric Hypospadias Repair |
| NCT05708989 | PHASE4 | WITHDRAWN | Caudal vs. Pudendal Block in Peds GU |
| NCT05837000 | PHASE4 | UNKNOWN | Dexmedetomidine, Ketamine and Magnesium Sulphate in Caudal Block for Hypospadias Repair |
| NCT05922605 | PHASE4 | UNKNOWN | Analgesic Effects of Caudal S-ketamine for Supplementation of Ropivacaine Caudal Analgesia in Children With Hypospadias |
| NCT07121764 | PHASE4 | COMPLETED | Postoperative Pain Relief in Children: Comparing Caudal Bupivacaine Alone Versus Bupivacaine With Dexmedetomidine for Infra-Umbilical Surgeries Under General Anesthesia |
| NCT07240649 | PHASE4 | NOT_YET_RECRUITING | Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications |
| NCT01370798 | PHASE3 | COMPLETED | Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications |
| NCT04423107 | PHASE3 | UNKNOWN | Assessment of Postop Hypospadias Pain |
| NCT04826484 | PHASE3 | TERMINATED | Opioid Reduction Initiative During Outpatient Pediatric Urologic Procedures Using Exparel |
| NCT07197203 | PHASE3 | NOT_YET_RECRUITING | Comparison of Caudal Block and Sacral Erector Spinae Plane Block With Dexmedetomidine in Pediatric Penile Hypospadias Repair |
| NCT05253456 | PHASE2 | COMPLETED | Modified Second Layer Repair for Distal Penile Hypospadias |
| NCT04479371 | PHASE1 | WITHDRAWN | Liposomal Bupivacaine vs Standard Penile Block for Hypospadias Repair |
| NCT02752308 | PHASE2/PHASE3 | COMPLETED | Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair |
| NCT04876976 | PHASE2/PHASE3 | COMPLETED | Isoamyl 2-Cyanoacrylate in the Urethro-cutaneous Fistula Repair |
| NCT05093166 | PHASE1/PHASE2 | TERMINATED | Clinical Trial to Assess the Safety and Efficacy of Investigational Product in Patients Due to Hypospadias Treatment Failure |
| NCT04196400 | EARLY_PHASE1 | UNKNOWN | The Role of Local Long Acting Corticosteroid Injection in Hypospadias Surgery. |
| NCT01762007 | Not specified | WITHDRAWN | The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group |
| NCT01875640 | Not specified | COMPLETED | Decision Support for Parents Receiving Information About Child’s Rare Disease |
| NCT02040389 | Not specified | COMPLETED | Visual Guidelines and Tutoring in Pediatric Urological Surgery |
| NCT02096159 | Not specified | ACTIVE_NOT_RECRUITING | Prophylactic Antibiotics or Placebo After Hypospadias Repair |
| NCT02103712 | Not specified | COMPLETED | Long Term Outcome of Hypospadias Repair |
| NCT02162810 | Not specified | TERMINATED | Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair |
| NCT02164682 | Not specified | COMPLETED | The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair |
| NCT02495090 | Not specified | COMPLETED | Hypospadias and Exome: Identification of New Genes for Familial Hypospadias |
| NCT02497963 | Not specified | UNKNOWN | Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) |
| NCT02512887 | Not specified | UNKNOWN | Caudal vs Local Anesthesia in Hypospadias |
| NCT02593903 | Not specified | COMPLETED | Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair |
| NCT02805491 | Not specified | COMPLETED | Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie |
| NCT02851290 | Not specified | COMPLETED | Effect of Caudal and Penile Block on Hypospadias Repair Complications |
| NCT03102554 | Not specified | ENROLLING_BY_INVITATION | Genetics of Differences of Sex Development and Hypospadias |
| NCT03275519 | Not specified | COMPLETED | Antibiotic Use in Distal Hypospadias Repair |
| NCT03575377 | Not specified | COMPLETED | Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery |
| NCT03593720 | Not specified | COMPLETED | Glans Size in Hypospadias Compared to Normal |
| NCT03677453 | Not specified | COMPLETED | Interactive Perioperative Teaching Platform (IPTP) |
| NCT03685955 | Not specified | WITHDRAWN | Efficacy of Amniotic Membranes in Complex Genitourinary Reconstruction |
| NCT03698721 | Not specified | NOT_YET_RECRUITING | Urothelium Tissue Engineering Using Biopsies From Transurethral Resection of Prostate |
| NCT03838458 | Not specified | COMPLETED | Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces |
| NCT03911635 | Not specified | UNKNOWN | Selective Criteria and a Modified Technique of Applying URAGPI Technique for More Proximal Degree of Hypospadias |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, congenital fibrosis of extraocular muscles, hypospadias