VGLL4

Summary

VGLL4 (vestigial like family member 4, HGNC:28966) is a protein-coding gene on chromosome 3p25.3-p25.2, encoding Transcription cofactor vestigial-like protein 4 (Q14135). May act as a specific coactivator for the mammalian TEFs.

Predicted to enable transcription coactivator binding activity. Involved in negative regulation of Wnt signaling pathway; negative regulation of cell growth; and negative regulation of hippo signaling. Predicted to be located in nucleus.

Source: NCBI Gene 9686 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_001128219

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28966
Approved symbol	VGLL4
Name	vestigial like family member 4
Location	3p25.3-p25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0121
Ensembl gene	ENSG00000144560
Ensembl biotype	protein_coding
OMIM	618692
Entrez	9686

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000273038, ENST00000413604, ENST00000414047, ENST00000417206, ENST00000417466, ENST00000418000, ENST00000419541, ENST00000424529, ENST00000424709, ENST00000426568, ENST00000430365, ENST00000437722, ENST00000445411, ENST00000451674, ENST00000458499, ENST00000463387, ENST00000480288, ENST00000623028

RefSeq mRNA: 6 — MANE Select: NM_001128219 NM_001128219, NM_001128220, NM_001128221, NM_001284390, NM_001284391, NM_014667

CCDS: CCDS2606, CCDS46754, CCDS46755, CCDS46756, CCDS68342, CCDS68343

Canonical transcript exons

ENST00000430365 — 5 exons

Exon	Start	End
ENSE00001693218	11643437	11643915
ENSE00003671158	11601833	11602022
ENSE00003760226	11564797	11565019
ENSE00003789941	11559332	11559455
ENSE00003846419	11556069	11558827

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.0929 / max 223.0619, expressed in 1816 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
41102	27.3424	1797
41108	5.8414	1289
41106	3.4969	1456
41101	1.2622	747
41107	1.1918	748
41109	0.7166	404
202674	0.6400	382
41104	0.5620	340
41086	0.5461	323
41096	0.4858	285

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	97.44	gold quality
nipple	UBERON:0002030	97.16	gold quality
trigeminal ganglion	UBERON:0001675	96.45	gold quality
pylorus	UBERON:0001166	96.28	gold quality
pigmented layer of retina	UBERON:0001782	96.28	gold quality
retina	UBERON:0000966	96.25	gold quality
renal medulla	UBERON:0000362	96.18	gold quality
left ovary	UBERON:0002119	95.65	gold quality
ovary	UBERON:0000992	95.38	gold quality
dorsal root ganglion	UBERON:0000044	95.36	gold quality
trachea	UBERON:0003126	95.30	gold quality
saphenous vein	UBERON:0007318	95.16	gold quality
bronchial epithelial cell	CL:0002328	95.13	gold quality
urethra	UBERON:0000057	95.11	gold quality
cartilage tissue	UBERON:0002418	95.04	gold quality
ascending aorta	UBERON:0001496	94.98	gold quality
right ovary	UBERON:0002118	94.91	gold quality
bronchus	UBERON:0002185	94.91	gold quality
thoracic aorta	UBERON:0001515	94.89	gold quality
choroid plexus epithelium	UBERON:0003911	94.87	gold quality
epithelium of bronchus	UBERON:0002031	94.86	gold quality
cardia of stomach	UBERON:0001162	94.80	gold quality
ventricular zone	UBERON:0003053	94.74	gold quality
aorta	UBERON:0000947	94.71	gold quality
popliteal artery	UBERON:0002250	94.56	gold quality
tibial artery	UBERON:0007610	94.56	gold quality
eye	UBERON:0000970	94.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.46	gold quality
endocervix	UBERON:0000458	94.36	gold quality
periodontal ligament	UBERON:0008266	94.36	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	127.37
E-MTAB-7303	no	812.48
E-GEOD-137537	no	3.18
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

100 targeting VGLL4, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-1297	99.91	73.41	3162

Literature-anchored findings (GeneRIF, showing 25)

• A transcriptional cofactor of transcriptional enhancer factor-1 (TEF-1) transcription factors. Interacts with TEF-1 factors through 2 TDU (tondu) motifs. Controls gene expression in cardiac myocytes. (PMID:15140898)
• This gene is named Vestigial-like 4, to distinguish it from 3 previously described genes Vgl-1, Vgl-2 and Vgl-3. Contains 2 motifs, found in the Drosophila transcription cofactor Vestigial, that interact with the TEF-1 family of transcription factors. (PMID:15140898)
• Vgl-4 modulates the activity of TEF-1 factors and counteracts alpha1-adrenergic activation of gene expression in cardiac myocytes (PMID:15140898)
• IRF2BP2 was identifies as a novel VGLL4 partner. (PMID:20702774)
• Vgl-4 may play a role in the apoptotic pathways by regulating translocation of IAPs between different cell compartments. (PMID:21839727)
• This study introduces a novel gain-of-function approach for studying hESC maintenance and presents VGLL4 as a previously undescribed regulator of this process. (PMID:23765749)
• VGLL4 directly competes with YAP in binding to TEADs and executes its growth-inhibitory function through two TDU domains. (PMID:24458094)
• Loss of VGLL4 expression is associated with gastric cancer. (PMID:24525233)
• rs2616551 in VGLL4 was found to be nominally associated with anorexia nervosa. (PMID:24983835)
• our study suggested that downregulation of VGLL4 was very important in the progression of ESCC, and restoring the function of VGLL4 might be a promising therapeutic strategy for ESCC. (PMID:25352025)
• The expression level of VGLL4 protein was down-regulated in gastric cancer tissues.VGLL4 inhibits epithelial-mesenchymal transition in part through suppressing Wnt-beta-catenin signaling pathway in gastric cancer. (PMID:25701461)
• VGLL4 - novel candidate genes validated in a large case-control sample of schizophrenia. (PMID:26460480)
• Hippo pathway transcription factor TEAD4 directly associates with the Wnt pathway transcription factor TCF4 via their DNA-binding domains, forming a complex on target genes. VGLL4 binds to this TEAD4-TCF4 complex to inhibit transactivation of both TCF4 and TEAD4. (PMID:28051067)
• Data report that VGLL4 functions as a suppressor of breast tumor (BC) growth and progression. Its low expression correlated with a poor prognosis. Its ectopic expression in BC cell lines reduced cell proliferation, migration, and tumor formation in xenograft mouse model. VGLL4 interacts with TEAD1 via its second TEAD-interacting domain, antagonizing YAP-dependent tumor growth. (PMID:28733631)
• The Vgll4 is phosphorylated in vitro and in vivo by cyclin-dependent kinase 1 (CDK1) during antimitotic drug-induced mitotic arrest and also in normal mitosis. (PMID:28739871)
• Results identify VGLL4 as a direct target gene of miR-130b in Bladder cancer (BCa) cells. Its suppression is crucial for miR-130b-induced BCa cell proliferation, migration and invasion. (PMID:29512748)
• our RNA-seq analyses suggest that while the stimulatory effects of CytoD on osteogenesis are pleiotropic and depend on the biological state of the cell type, a small group of genes including VGLL4 may contribute to MSC commitment toward the bone lineage. (PMID:29882479)
• Identification of VGLL4 as an important regulator of PD-L1 expression and a central role of VGLL4 and YAP in the regulation of tumor immunity. (PMID:30396996)
• VGLL4 interacts with STAT3 to function as a tumor suppressor in triple-negative breast cancer (PMID:31748508)
• The lncRNA MEG3/miR-16-5p/VGLL4 regulatory axis is involved in etoposide-induced senescence of tumor cells. (PMID:33141998)
• LINC00641 regulates prostate cancer cell growth and apoptosis via the miR-365a-3p/VGLL4 axis. (PMID:33506898)
• VGLL4 inhibits YAP1/TEAD signaling to suppress the epidermal squamous cell carcinoma cancer phenotype. (PMID:34004031)
• Biochemical properties of VGLL4 from Homo sapiens and Tgi from Drosophila melanogaster and possible biological implications. (PMID:34075638)
• HOXB13 suppresses proliferation, migration and invasion, and promotes apoptosis of gastric cancer cells through transcriptional activation of VGLL4 to inhibit the involvement of TEAD4 in the Hippo signaling pathway. (PMID:34396425)
• VGLL4-TEAD1 promotes vascular smooth muscle cell differentiation from human pluripotent stem cells via TET2. (PMID:36657637)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vgll4a	ENSDARG00000094332
danio_rerio	vgll4b	ENSDARG00000103730
mus_musculus	Vgll4	ENSMUSG00000030315
rattus_norvegicus	Vgll4	ENSRNOG00000007822

Protein

Protein identifiers

Transcription cofactor vestigial-like protein 4 — Q14135 (reviewed: Q14135)

All UniProt accessions (12): Q14135, A0A096LP98, A0A0A6YYI5, C9JBN2, C9JX59, E7EQU6, E7ERW0, E7EUJ2, E7EWF5, F8W708, F8WBN7, G5E9M9

UniProt curated annotations — full annotation on UniProt →

Function. May act as a specific coactivator for the mammalian TEFs.

Subunit / interactions. Interacts with TEFs. Interacts with IRF2BP2.

Subcellular location. Nucleus.

Miscellaneous. Probable target of nonsense-mediated mRNA decay.

Similarity. Belongs to the vestigial family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q14135-1	1	yes
Q14135-2	2
Q14135-3	3
Q14135-4	4
Q14135-5	5
Q14135-6	6

RefSeq proteins (6): NP_001121691, NP_001121692, NP_001121693, NP_001271319, NP_001271320, NP_055482 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006627	TDU_repeat	Repeat
IPR028184	VGLL4	Family

Pfam: PF15245

UniProt features (23 total): splice variant 8, modified residue 5, region of interest 4, compositionally biased region 4, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8YTF	X-RAY DIFFRACTION	1.59

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14135-F1	61.61	0.13

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 (5): 52, 149, 153, 274, 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 301 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, CCAWYNNGAAR_UNKNOWN, NKX25_02, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, TTTGTAG_MIR520D, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, AREB6_03, AAGCCAT_MIR135A_MIR135B, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_HIPPO_SIGNALING, GOBP_MUSCLE_CELL_PROLIFERATION

GO Biological Process (7): negative regulation of Wnt signaling pathway (GO:0030178), negative regulation of cell growth (GO:0030308), negative regulation of hippo signaling (GO:0035331), positive regulation of protein catabolic process (GO:0045732), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of cardiac muscle cell proliferation (GO:0060044), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (2): transcription coactivator binding (GO:0001223), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
negative regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
hippo signaling	1
regulation of hippo signaling	1
negative regulation of intracellular signal transduction	1
positive regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
positive regulation of protein metabolic process	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
negative regulation of cell population proliferation	1
negative regulation of cardiac muscle tissue growth	1
cardiac muscle cell proliferation	1
regulation of cardiac muscle cell proliferation	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription coregulator binding	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

638 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VGLL4	TEAD4	Q15561	881
VGLL4	TEAD1	P28347	837
VGLL4	VGLL1	Q99990	826
VGLL4	TEAD2	Q15562	741
VGLL4	TEAD3	Q99594	738
VGLL4	IRF2BP2	Q7Z5L9	711
VGLL4	SAV1	Q9H4B6	674
VGLL4	YAP1	P46937	649
VGLL4	LATS1	O95835	632
VGLL4	VGLL3	A8MV65	631
VGLL4	WWTR1	Q9GZV5	593
VGLL4	NF2	P35240	541
VGLL4	MOB1A	Q9H8S9	534
VGLL4	VGLL2	Q8N8G2	526
VGLL4	LATS2	Q9NRM7	526

IntAct

28 interactions, top by confidence:

A	B	Type	Score
VGLL4	TEAD4	psi-mi:“MI:0407”(direct interaction)	0.760
TEAD4	VGLL4	psi-mi:“MI:0915”(physical association)	0.760
VGLL4	TEAD3	psi-mi:“MI:0915”(physical association)	0.670
CCND3	CDK1	psi-mi:“MI:0914”(association)	0.640
VGLL4	TEAD2	psi-mi:“MI:0915”(physical association)	0.560
IRF2BP1	VGLL4	psi-mi:“MI:0914”(association)	0.530
VGLL4	IRF2BP2	psi-mi:“MI:0914”(association)	0.530
SDCBP	TARS3	psi-mi:“MI:0914”(association)	0.530
VGLL4	YAP1	psi-mi:“MI:0914”(association)	0.530
YAP1	VGLL4	psi-mi:“MI:0914”(association)	0.530
VGLL4	TERF2IP	psi-mi:“MI:0915”(physical association)	0.510
VGLL4	TEAD1	psi-mi:“MI:0914”(association)	0.480
VGLL4	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.440
VGLL4	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
VGLL4	MFHAS1	psi-mi:“MI:0407”(direct interaction)	0.440
VGLL4	CDK6	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
VGLL4	LRRK1	psi-mi:“MI:0407”(direct interaction)	0.440
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
CEACAM21	VGLL4	psi-mi:“MI:0914”(association)	0.350
TEAD4	VGLL3	psi-mi:“MI:0914”(association)	0.350
TEAD1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
VGLL4	TERF2IP	psi-mi:“MI:0915”(physical association)	0.000
VGLL4	TEAD2	psi-mi:“MI:0915”(physical association)	0.000
VGLL4	TEAD3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (55): IRF2BP2 (Affinity Capture-MS), IRF2BP1 (Affinity Capture-MS), IRF2BPL (Affinity Capture-MS), TEAD1 (Affinity Capture-MS), TEAD4 (Affinity Capture-MS), TEAD3 (Affinity Capture-MS), USP11 (Affinity Capture-MS), VGLL4 (Affinity Capture-Western), USP11 (Affinity Capture-Western), IRF2BP1 (Affinity Capture-MS), TEAD4 (Affinity Capture-MS), TEAD3 (Affinity Capture-MS), IRF2BPL (Affinity Capture-MS), IRF2BP2 (Affinity Capture-MS), TEAD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IBL7, A2A891, A3RK74, A4L7N3, B5DE09, E1BPQ1, G3V7R4, O15014, O43524, P11420, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P70365, P98180, Q01978, Q12778, Q14135, Q15596, Q15788, Q4PJW2, Q53TQ3, Q60420, Q60722, Q61026, Q61286, Q62655, Q66IY8, Q66JJ0, Q6DIH5, Q6EUW2, Q6NZT6, Q6PCG7, Q7T2G1, Q7ZXS3, Q80V24

Diamond homologs: Q14135, Q80V24

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
YAP1- and WWTR1 (TAZ)-stimulated gene expression	5	292.8×	2e-10
Regulation of PD-L1(CD274) transcription	5	41.8×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
hippo signaling	5	174.4×	2e-08
intracellular signal transduction	6	10.9×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

18 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2647 predictions. Top by Δscore:

Variant	Effect	Δscore
3:11558823:GGCAG:G	acceptor_gain	1.0000
3:11558824:GCAG:G	acceptor_gain	1.0000
3:11558825:CAG:C	acceptor_gain	1.0000
3:11558825:CAGC:C	acceptor_gain	1.0000
3:11558826:AG:A	acceptor_gain	1.0000
3:11558826:AGCTG:A	acceptor_loss	1.0000
3:11558828:C:CA	acceptor_loss	1.0000
3:11558828:C:CC	acceptor_gain	1.0000
3:11558835:C:CT	acceptor_gain	1.0000
3:11559326:ACTC:A	donor_loss	1.0000
3:11559327:CTCA:C	donor_loss	1.0000
3:11559328:TCACC:T	donor_loss	1.0000
3:11559329:CACCG:C	donor_loss	1.0000
3:11559330:A:AC	donor_gain	1.0000
3:11559330:ACCG:A	donor_gain	1.0000
3:11559330:ACCGC:A	donor_loss	1.0000
3:11559331:C:CG	donor_gain	1.0000
3:11559331:CCG:C	donor_gain	1.0000
3:11559331:CCGC:C	donor_gain	1.0000
3:11559331:CCGCT:C	donor_gain	1.0000
3:11559451:CGGTT:C	acceptor_gain	1.0000
3:11559452:GGTT:G	acceptor_gain	1.0000
3:11559452:GGTTC:G	acceptor_loss	1.0000
3:11559453:GTT:G	acceptor_gain	1.0000
3:11559453:GTTCT:G	acceptor_loss	1.0000
3:11559454:TT:T	acceptor_gain	1.0000
3:11559455:TC:T	acceptor_loss	1.0000
3:11559456:C:CA	acceptor_loss	1.0000
3:11559456:C:CC	acceptor_gain	1.0000
3:11559457:T:A	acceptor_loss	1.0000

AlphaMissense

1960 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:11558674:A:C	I252S	1.000
3:11558674:A:G	I252T	1.000
3:11558682:C:A	W249C	1.000
3:11558682:C:G	W249C	1.000
3:11558684:A:G	W249R	1.000
3:11558684:A:T	W249R	1.000
3:11558692:C:A	G246V	1.000
3:11558695:A:G	L245P	1.000
3:11558695:A:T	L245Q	1.000
3:11558706:A:C	F241L	1.000
3:11558706:A:T	F241L	1.000
3:11558707:A:C	F241C	1.000
3:11558707:A:G	F241S	1.000
3:11558708:A:C	F241V	1.000
3:11558708:A:G	F241L	1.000
3:11558708:A:T	F241I	1.000
3:11558709:G:C	H240Q	1.000
3:11558709:G:T	H240Q	1.000
3:11558711:G:C	H240D	1.000
3:11558790:G:C	F213L	1.000
3:11558790:G:T	F213L	1.000
3:11558791:A:C	F213C	1.000
3:11558791:A:G	F213S	1.000
3:11558792:A:G	F213L	1.000
3:11558795:G:C	H212D	1.000
3:11559439:A:C	I165S	1.000
3:11559439:A:G	I165T	1.000
3:11559439:A:T	I165N	1.000
3:11558674:A:T	I252N	0.999
3:11558683:C:G	W249S	0.999

dbSNP variants (sampled 300 via entrez): RS1000010 (3:11562645 A>G), RS1000022080 (3:11718617 G>A,T), RS1000036334 (3:11591845 G>A), RS1000061613 (3:11563022 G>A,T), RS1000065471 (3:11594075 A>C), RS1000082258 (3:11716405 G>A), RS1000082296 (3:11632776 C>A,T), RS1000092869 (3:11573174 AAGAC>A,AAGACAGAC), RS1000106113 (3:11656147 C>A,G,T), RS1000162961 (3:11615739 G>A), RS1000199299 (3:11685063 A>G), RS1000210303 (3:11577613 A>G), RS1000231249 (3:11615983 G>A,C), RS1000235835 (3:11603811 T>C), RS1000239293 (3:11681925 T>A,G)

Disease associations

OMIM: gene MIM:618692 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000873_5	Anorexia nervosa	9.000000e-06
GCST001817_5	Metabolite levels (HVA-5-HIAA Factor score)	8.000000e-06
GCST001824_5	Metabolite levels (HVA)	2.000000e-06
GCST002183_5	Relative hand skill in reading disability	9.000000e-06
GCST002702_81	Height	8.000000e-08
GCST004076_28	Optic disc area	2.000000e-08
GCST004264_26	Clopidogrel active metabolite levels	9.000000e-06
GCST004904_226	Body mass index	5.000000e-08
GCST006661_65	Male-pattern baldness	2.000000e-09
GCST006988_33	Blond vs. brown/black hair color	1.000000e-08
GCST007692_114	Chronic obstructive pulmonary disease	2.000000e-10
GCST007930_176	Medication use (agents acting on the renin-angiotensin system)	6.000000e-09
GCST008179_15	Moderate-to-late spontaneous preterm birth	1.000000e-06
GCST008180_5	Spontaneous preterm birth with premature rupture of membranes	4.000000e-06
GCST008363_103	Offspring birth weight	3.000000e-08
GCST008839_12	Height	1.000000e-13
GCST90000025_721	Appendicular lean mass	6.000000e-13
GCST90020026_157	Hip index	1.000000e-08
GCST90020028_731	Hip circumference adjusted for BMI	4.000000e-10
GCST90020028_732	Hip circumference adjusted for BMI	2.000000e-09

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005132	5-HIAA measurement
EFO:0009902	handedness
EFO:0007966	clopidogrel metabolite measurement
EFO:0004340	body mass index
EFO:0003924	hair color
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0006917	spontaneous preterm birth
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
Smoke	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	increases methylation	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	decreases methylation	1
Acetaminophen	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Antimycin A	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1

Cellosaurus cell lines

1 cell lines: 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4TX	WAe001-A-47	Embryonic stem cell	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.