VGLL1
gene geneOn this page
Also known as TONDUTDU
Summary
VGLL1 (vestigial like family member 1, HGNC:20985) is a protein-coding gene on chromosome Xq26.3, encoding Transcription cofactor vestigial-like protein 1 (Q99990). May act as a specific coactivator for the mammalian TEFs.
The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for the mammalian TEFs.
Source: NCBI Gene 51442 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 58 total
- GTEx eGene: eQTL in 5 tissues, sQTL in 0 (q < 0.05)
- MANE Select transcript:
NM_016267 - Notable: 58 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20985 |
| Approved symbol | VGLL1 |
| Name | vestigial like family member 1 |
| Location | Xq26.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TONDU, TDU |
| Ensembl gene | ENSG00000102243 |
| Ensembl biotype | protein_coding |
| OMIM | 300583 |
| Entrez | 51442 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
MANE Select: ENST00000370634
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 2
ENST00000370634, ENST00000440515, ENST00000456412, ENST00000470358, ENST00000872080, ENST00000872081, ENST00000872082, ENST00001090914, ENST00001132255
RefSeq mRNA: 1 — MANE Select: NM_016267
NM_016267
CCDS: CCDS14658
Canonical transcript exons
ENST00000370634 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000677012 | 136548589 | 136549008 |
| ENSE00000677013 | 136550768 | 136550821 |
| ENSE00001029091 | 136532215 | 136532296 |
| ENSE00001453195 | 136535996 | 136536234 |
| ENSE00003843261 | 136556451 | 136556799 |
Expression profiles
Bgee: expression breadth broad, 93 present calls, max score 97.66.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3478 / max 888.3249, expressed in 210 samples.
Highest expression (Bgee): placenta, amniotic fluid, male germ line stem cell (sensu Vertebrata) in testis, palpebral conjunctiva, urinary bladder.
Genetic regulation across tissues (GTEx eQTL / sQTL)
VGLL1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 5 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
5 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Skin Sun Exposed Lower leg | eqtl | 2.0e-04 | +0.34 | X:136528693:T:C |
| Lung | eqtl | 1.2e-02 | -0.40 | X:135922481:A:G |
| Breast Mammary Tissue | eqtl | 2.2e-02 | +0.35 | X:135614712:G:A |
| Prostate | eqtl | 2.5e-02 | +0.23 | X:137273454:C:T |
| Stomach | eqtl | 3.6e-02 | -0.19 | X:136320128:G:C |
FANTOM5 promoters
7 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 197706 | 2.2455 | 172 |
| 197703 | 0.4683 | 75 |
| 197707 | 0.2906 | 66 |
| 197704 | 0.1807 | 48 |
| 197705 | 0.1230 | 46 |
| 197708 | 0.0240 | 5 |
| 197709 | 0.0158 | 6 |
Top tissues by expression
showing 100 of 252 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| placenta | UBERON:0001987 | 97.66 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.15 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.04 | gold quality |
| urinary bladder | UBERON:0001255 | 75.30 | gold quality |
| decidua | UBERON:0002450 | 75.18 | gold quality |
| metanephros cortex | UBERON:0010533 | 74.02 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 71.90 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 71.73 | gold quality |
| minor salivary gland | UBERON:0001830 | 69.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 68.86 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 68.83 | silver quality |
| saliva-secreting gland | UBERON:0001044 | 66.41 | gold quality |
| mouth mucosa | UBERON:0003729 | 66.23 | gold quality |
| buccal mucosa cell | CL:0002336 | 66.12 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 65.57 | gold quality |
| gluteal muscle | UBERON:0002000 | 64.33 | gold quality |
| right lung | UBERON:0002167 | 64.11 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 62.14 | gold quality |
| triceps brachii | UBERON:0001509 | 61.96 | gold quality |
| urethra | UBERON:0000057 | 61.32 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 59.95 | gold quality |
| biceps brachii | UBERON:0001507 | 59.90 | gold quality |
| pituitary gland | UBERON:0000007 | 59.02 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 58.82 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 58.49 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 58.33 | gold quality |
| upper lobe of lung | UBERON:0008948 | 58.18 | gold quality |
| islet of Langerhans | UBERON:0000006 | 58.14 | gold quality |
| metanephros | UBERON:0000081 | 58.11 | gold quality |
| adenohypophysis | UBERON:0002196 | 58.11 | gold quality |
| oral cavity | UBERON:0000167 | 58.07 | silver quality |
| vena cava | UBERON:0004087 | 58.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 58.01 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 57.97 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 57.75 | gold quality |
| esophagus mucosa | UBERON:0002469 | 57.66 | gold quality |
| male germ cell | CL:0000015 | 56.91 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 56.91 | gold quality |
| sperm | CL:0000019 | 56.70 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 56.54 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 56.42 | gold quality |
| quadriceps femoris | UBERON:0001377 | 56.04 | gold quality |
| cerebellar vermis | UBERON:0004720 | 55.98 | gold quality |
| deltoid | UBERON:0001476 | 55.79 | gold quality |
| lung | UBERON:0002048 | 55.79 | gold quality |
| mammary gland | UBERON:0001911 | 55.62 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 55.59 | gold quality |
| vastus lateralis | UBERON:0001379 | 54.77 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 54.22 | gold quality |
| kidney | UBERON:0002113 | 54.12 | gold quality |
| gall bladder | UBERON:0002110 | 54.03 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 53.97 | gold quality |
| pancreas | UBERON:0001264 | 53.66 | gold quality |
| prostate gland | UBERON:0002367 | 53.33 | gold quality |
| parotid gland | UBERON:0001831 | 53.22 | gold quality |
| mammary duct | UBERON:0001765 | 53.06 | silver quality |
| squamous epithelium | UBERON:0006914 | 52.85 | gold quality |
| endometrium epithelium | UBERON:0004811 | 52.22 | gold quality |
| body of pancreas | UBERON:0001150 | 51.91 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 51.59 | gold quality |
| pancreatic ductal cell | CL:0002079 | 51.49 | silver quality |
| pleura | UBERON:0000977 | 51.48 | gold quality |
| parietal pleura | UBERON:0002400 | 51.07 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 50.74 | gold quality |
| tonsil | UBERON:0002372 | 50.74 | gold quality |
| visceral pleura | UBERON:0002401 | 50.71 | gold quality |
| hair follicle | UBERON:0002073 | 50.53 | gold quality |
| cortex of kidney | UBERON:0001225 | 50.52 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| vagina | UBERON:0000996 | 50.26 | gold quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 50.10 | silver quality |
| cranial nerve II | UBERON:0000941 | 50.01 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.94 | gold quality |
| oviduct epithelium | UBERON:0004804 | 49.82 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 49.72 | gold quality |
| thymus | UBERON:0002370 | 49.57 | gold quality |
| heart right ventricle | UBERON:0002080 | 49.39 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| tibialis anterior | UBERON:0001385 | 48.79 | silver quality |
| cervix epithelium | UBERON:0004801 | 48.64 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| inferior olivary complex | UBERON:0002127 | 48.47 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 48.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 48.20 | gold quality |
| upper arm skin | UBERON:0004263 | 48.06 | gold quality |
| nephron tubule | UBERON:0001231 | 47.92 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 47.92 | gold quality |
| kidney epithelium | UBERON:0004819 | 47.90 | gold quality |
| body of tongue | UBERON:0011876 | 47.75 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 47.74 | gold quality |
| renal glomerulus | UBERON:0000074 | 47.60 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 1313.31 |
| E-MTAB-10018 | yes | 360.84 |
| E-MTAB-3929 | yes | 196.62 |
| E-HCAD-10 | yes | 13.42 |
| E-ANND-3 | yes | 6.00 |
HPA expression
RNA tissue specificity: Tissue enriched
25 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Placenta | tissue | 191.5 | medium |
| Urinary bladder | tissue | 21.2 | not detected |
| Seminal vesicle | tissue | 6.3 | not detected |
| Kidney | tissue | 3.5 | not detected |
| Breast | tissue | 2.1 | not detected |
| Lung | tissue | 2.0 | not detected |
| Salivary gland | tissue | 1.6 | not detected |
| Vagina | tissue | 1.5 | not detected |
| Pituitary gland | tissue | 1.4 | |
| Pancreas | tissue | 1.4 | not detected |
| Prostate | tissue | 1.2 | not detected |
| Fallopian tube | tissue | 1.2 | not detected |
| Tonsil | tissue | 1.1 | not detected |
| Stomach 1 | tissue | 0.8 | not detected |
| Esophagus | tissue | 0.7 | not detected |
| Adipose tissue | tissue | 0.6 | not detected |
| Gallbladder | tissue | 0.5 | not detected |
| Epididymis | tissue | 0.4 | not detected |
| Duodenum | tissue | 0.2 | not detected |
| Thymus | tissue | 0.2 | |
| Heart muscle | tissue | 0.1 | not detected |
| Endometrium 1 | tissue | 0.1 | not detected |
| Spleen | tissue | 0.1 | not detected |
| Liver | tissue | 0.1 | not detected |
| Small intestine | tissue | 0.1 | not detected |
Brain sub-regions (HPA Brain Atlas): detected in 16; highest nTPM — Ventromedial nucleus (0.2), Angular gyrus (0.1), Area striata (white matter) (0.1), Dentate gyrus (0.1), Frontal eye field (0.1).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting VGLL1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
26 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-4314 | 97.50 | 67.30 | 1369 |
| HSA-MIR-431-5P | 96.16 | 66.50 | 652 |
| HSA-MIR-2277-3P | 91.94 | 62.27 | 299 |
Functional genomics
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000370634 — one region, missense o/e 0.98.
Literature-anchored findings (GeneRIF, showing 8)
- VGLL1 expression is associated with a triple-negative basal-like phenotype in breast cancer (PMID:24891455)
- Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm. (PMID:31925773)
- A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors. (PMID:33060790)
- VGLL1 phosphorylation and activation promotes gastric cancer malignancy via TGF-beta/ERK/RSK2 signaling. (PMID:33069758)
- Vestigial-like 1 is a shared targetable cancer-placenta antigen expressed by pancreatic and basal-like breast cancers. (PMID:33087697)
- Vestigial-like 1 (VGLL1): An ancient co-transcriptional activator linking wing, placenta, and tumor development. (PMID:37004960)
- VGLL1 cooperates with TEAD4 to control human trophectoderm lineage specification. (PMID:38233381)
- VGLL1 stabilization of cytoplasmic TAZ promotes EGFR expression and maintains tumor initiating cells in breast cancer independent of TEAD. (PMID:38417636)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Vgll1 | ENSMUSG00000031131 |
| drosophila_melanogaster | vg | FBGN0003975 |
Paralogs (2): VGLL2 (ENSG00000170162), VGLL3 (ENSG00000206538)
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 |
|---|---|---|
| LINC00892 | ncRNA | 100128420 |
| HTATSF1 | protein-coding | 27336 |
| BRS3 | protein-coding | 680 |
| MIR934 | ncRNA | 100126324 |
| ARHGEF6 | protein-coding | 9459 |
| CD40LG | protein-coding | 959 |
| ADGRG4 | protein-coding | 139378 |
Protein
Protein identifiers
Transcription cofactor vestigial-like protein 1 — Q99990 (reviewed: Q99990)
Alternative names: Protein TONDU
All UniProt accessions (3): H0Y5G3, Q5H916, Q99990
UniProt curated annotations — full annotation on UniProt →
Function. May act as a specific coactivator for the mammalian TEFs.
Subunit / interactions. Interacts with TEFs.
Subcellular location. Nucleus.
Similarity. Belongs to the vestigial family.
RefSeq proteins (1): NP_057351* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006627 | TDU_repeat | Repeat |
| IPR011520 | Vg_fam | Family |
Pfam: PF07545
UniProt features (5 total): compositionally biased region 2, chain 1, region of interest 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99990-F1 | 57.78 | 0.13 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm
Antibody reliability (HPA): IH supported · 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: 70 (showing top):
NKX25_02, MODULE_545, ONDER_CDH1_TARGETS_3_DN, FINAK_BREAST_CANCER_SDPP_SIGNATURE, BRN2_01, SMID_BREAST_CANCER_LUMINAL_A_DN, GOZGIT_ESR1_TARGETS_UP, GNF2_KISS1, BENPORATH_ES_CORE_NINE_CORRELATED, SMID_BREAST_CANCER_RELAPSE_IN_BRAIN_UP, VANTVEER_BREAST_CANCER_ESR1_DN, SMID_BREAST_CANCER_LUMINAL_B_DN, GNF2_TIMP2, GOMF_TRANSCRIPTION_COACTIVATOR_ACTIVITY, LIN_SILENCED_BY_TUMOR_MICROENVIRONMENT
GO Biological Process (4): DNA-templated transcription (GO:0006351), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
14 GO namespaces:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).
1 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| nucleoplasm | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 572 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VGLL1 | TEAD1 | P28347 | 929 |
| VGLL1 | WWTR1 | Q9GZV5 | 778 |
| VGLL1 | VGLL4 | Q14135 | 763 |
| VGLL1 | TEAD4 | Q15561 | 760 |
| VGLL1 | YAP1 | P46937 | 716 |
| VGLL1 | ACTA1 | P02568 | 661 |
| VGLL1 | VGLL3 | A8MV65 | 492 |
| VGLL1 | RAD51B | O15315 | 491 |
| VGLL1 | TEAD2 | Q15562 | 435 |
| VGLL1 | MEF2A | Q02078 | 428 |
| VGLL1 | MYH1 | P12882 | 427 |
| VGLL1 | ERP27 | Q96DN0 | 417 |
| VGLL1 | MYOG | P15173 | 408 |
| VGLL1 | GATA2 | P23769 | 407 |
| VGLL1 | TEAD3 | Q99594 | 407 |
IntAct
Human interaction partners of VGLL1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
14 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| TEAD3 | physical association | 0.670 | 4 |
| AIRIM | physical association | 0.560 | 3 |
| CDKN2D | physical association | 0.560 | 3 |
| HNRNPF | physical association | 0.560 | 3 |
| LONRF1 | physical association | 0.560 | 3 |
| MEIS2 | physical association | 0.560 | 3 |
| PFDN5 | physical association | 0.560 | 3 |
| RIPPLY1 | physical association | 0.560 | 3 |
| TEAD2 | physical association | 0.560 | 3 |
| TEAD4 | physical association | 0.560 | 3 |
| TEKT4 | physical association | 0.560 | 3 |
| TLE5 | physical association | 0.560 | 3 |
| TRIM23 | physical association | 0.560 | 3 |
| TSSK3 | physical association | 0.560 | 3 |
BioGRID (20 interactions; top human partners by supporting records): TEAD1 (Two-hybrid; 2 records), TEAD2 (Two-hybrid; 2 records), TEAD3 (Two-hybrid; 2 records), TEAD4 (Two-hybrid; 2 records), AES (Two-hybrid), C1orf109 (Two-hybrid), CDKN2D (Two-hybrid), HNRNPF (Two-hybrid), LONRF1 (Two-hybrid), MEIS2 (Two-hybrid), PFDN5 (Two-hybrid), RIPPLY1 (Two-hybrid), SPPL3 (Positive Genetic), TEKT4 (Two-hybrid), TRIM23 (Two-hybrid)
SIGNOR signaling
1 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPS6KA3 | “down-regulates activity” | VGLL1 | phosphorylation |
Disease & clinical
Genetic variants
Variant evidence for VGLL1: 58 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 38 predictions of 403):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| X:136532297–136532298 | donor_loss | 0.9900 | 4 |
| X:136536235–136536236 | donor_loss | 0.9900 | 6 |
| X:136532297 | donor_loss | 0.9800 | |
| X:136535993–136535995 | acceptor_loss | 0.9800 | 7 |
| X:136549015 | donor_gain | 0.9800 | |
| X:136550766–136550767 | acceptor_loss | 0.9800 | 6 |
| X:136550819 | donor_gain | 0.9800 | |
| X:136550822–136550823 | donor_loss | 0.9700 | 4 |
| X:136550822–136550823 | donor_loss | 0.9600 | 2 |
| X:136548587–136548588 | acceptor_loss | 0.9500 | 6 |
AlphaMissense
205 missense substitutions predicted likely pathogenic (of 1,676 scored), across 42 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| H44 | 8 | 0.989 | 0.995 |
| D42 | 8 | 0.985 | 0.995 |
| F45 | 8 | 0.982 | 0.999 |
| D36 | 8 | 0.957 | 0.987 |
| F30 | 8 | 0.906 | 0.996 |
| F33 | 7 | 0.976 | 0.996 |
| W23 | 7 | 0.929 | 0.973 |
| E43 | 7 | 0.830 | 0.958 |
| I37 | 7 | 0.793 | 0.951 |
| C27 | 7 | 0.701 | 0.940 |
| G35 | 6 | 0.982 | 0.992 |
| V41 | 6 | 0.969 | 0.982 |
| R47 | 6 | 0.965 | 0.995 |
| A48 | 6 | 0.931 | 0.993 |
| Y32 | 6 | 0.926 | 0.994 |
| T31 | 6 | 0.893 | 0.982 |
| E22 | 6 | 0.806 | 0.878 |
| L49 | 5 | 0.900 | 0.992 |
| V28 | 5 | 0.883 | 0.992 |
| S39 | 5 | 0.882 | 0.935 |
HPA cancer prognostics
RNA cancer specificity: Cancer enriched (Bladder Urothelial Carcinoma)
Disease associations
OMIM: gene MIM:300583 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression, decreases methylation | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Ethinyl Estradiol | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| bisphenol A | affects expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| 3,4-dichloroaniline | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| corosolic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Chir 99021 | affects cotreatment, increases expression, affects binding | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Amphotericin B | increases expression | 1 |
| Ascorbic Acid | affects binding, affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.