RHOJ

Summary

RHOJ (ras homolog family member J, HGNC:688) is a protein-coding gene on chromosome 14q23.2, encoding Rho-related GTP-binding protein RhoJ (Q9H4E5). Plasma membrane-associated small GTPase specifically involved in angiogenesis.

This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis.

Source: NCBI Gene 57381 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_020663

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:688
Approved symbol	RHOJ
Name	ras homolog family member J
Location	14q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14445, TCL
Ensembl gene	ENSG00000126785
Ensembl biotype	protein_coding
OMIM	607653
Entrez	57381

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000316754, ENST00000555125, ENST00000557133, ENST00000557447, ENST00000900057, ENST00000900058, ENST00000900059

RefSeq mRNA: 1 — MANE Select: NM_020663 NM_020663

CCDS: CCDS9757

Canonical transcript exons

ENST00000316754 — 5 exons

Exon	Start	End
ENSE00000867540	63269110	63269168
ENSE00000867542	63283121	63283216
ENSE00001236527	63280971	63281135
ENSE00001842065	63204443	63205047
ENSE00001870971	63290878	63293508

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 94.95.

FANTOM5 (CAGE): breadth broad, TPM avg 6.1220 / max 150.9593, expressed in 826 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140036	3.6373	689
140037	1.0744	413
140035	0.7168	435
140038	0.4390	271
140034	0.2544	147

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	94.95	gold quality
sural nerve	UBERON:0015488	94.23	gold quality
smooth muscle tissue	UBERON:0001135	92.67	gold quality
gall bladder	UBERON:0002110	90.62	gold quality
left uterine tube	UBERON:0001303	87.90	gold quality
tibial nerve	UBERON:0001323	87.74	gold quality
skin of hip	UBERON:0001554	87.50	gold quality
omental fat pad	UBERON:0010414	87.19	gold quality
upper lobe of left lung	UBERON:0008952	87.14	gold quality
peritoneum	UBERON:0002358	87.13	gold quality
upper lobe of lung	UBERON:0008948	87.05	gold quality
lung	UBERON:0002048	86.97	gold quality
endothelial cell	CL:0000115	86.52	gold quality
adipose tissue of abdominal region	UBERON:0007808	86.49	gold quality
body of uterus	UBERON:0009853	86.37	gold quality
lower lobe of lung	UBERON:0008949	86.21	gold quality
apex of heart	UBERON:0002098	86.16	gold quality
visceral pleura	UBERON:0002401	85.87	gold quality
ventricular zone	UBERON:0003053	85.56	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.28	gold quality
lower esophagus	UBERON:0013473	85.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	85.19	gold quality
myocardium	UBERON:0002349	84.98	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.90	gold quality
descending thoracic aorta	UBERON:0002345	84.77	gold quality
ganglionic eminence	UBERON:0004023	84.44	gold quality
dorsal root ganglion	UBERON:0000044	84.11	gold quality
ascending aorta	UBERON:0001496	84.10	gold quality
thoracic aorta	UBERON:0001515	84.09	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	122.75
E-ANND-3	yes	17.83
E-MTAB-6701	yes	14.77
E-MTAB-8410	yes	10.53
E-CURD-46	yes	9.84
E-GEOD-109979	no	117.00
E-MTAB-6386	no	3.65
E-MTAB-6678	no	2.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ERG

miRNA regulators (miRDB)

132 targeting RHOJ, 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-9-5P	100.00	72.28	2361
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-3121-3P	99.82	71.96	3630

Literature-anchored findings (GeneRIF, showing 18)

• TCL is essential for clathrin-dependent endocytosed receptors to enter the early/sorting endosomes (PMID:12960428)
• RhoJ is endothelial-expressed in vivo, activated by vascular endothelial growth factor, localizes to focal adhesions, regulates endothelial cell migration and tube formation, and modulates actomyosin contractility and focal adhesion numbers. (PMID:21148427)
• Our study supports a novel role for the Rho family member RhoJ in ednothelial cell morphogenesis and in particular in lumen formation (PMID:21628409)
• we identified RhoJ and its effector PAK1, as key modulators of melanoma cell sensitivity to DNA damage (PMID:22971344)
• Arhgef15 acts as an endothelial cell-specific GEF to mediate VEGF-induced Cdc42 activation and potentiate RhoJ inactivation, thereby promoting actin polymerization and cell motility. (PMID:23029280)
• These observations identify RHOJ as a melanoma linchpin determinant that regulates both actin cytoskeletal dynamics and chemoresistance by activating PAK1. (PMID:23253891)
• These results identify RhoJ blockade as a selective and effective therapeutic strategy for targeting tumor vasculature with minimal side effects. (PMID:24434213)
• RhoJ-knockout mice showed reduced tumour growth and diminished tumour vessel density, identifying a role for RhoJ in mediating tumour angiogenesis. Studies give insight into the molecular function of RhoJ in regulating cell motility. (PMID:24928894)
• FMNL3 interacts with Cdc42 and RhoJ, two Rho family GTPases known to be required for lumen formation. FMNL3 and RhoJ are concentrated at the early apical surface, or AMIS, and regulate the formation of radiating actin cables from this site. (PMID:26299518)
• These results identify amino acids within the N terminus and a loop region distal to the nucleotide binding pocket of TCL capable of allosterically regulating nucleotide exchange and thus influence membrane association of the protein. (PMID:27660391)
• Short-term treatment of nascent melanoma tumors with PAK inhibitors that block RhoJ signaling halts the growth of BRAF mutant melanoma tumors in vivo and induces apoptosis in melanoma cells in vitro via a BAD-dependent mechanism. As up to 50% of BRAF mutant human melanomas express high levels of RhoJ, these studies nominate the RhoJ-BAD signaling network as a therapeutic vulnerability for fledgling BRAF mutant human tumor (PMID:28753606)
• A Protective Role for RHOJ in NonSmall Cell Lung Cancer Based on Integrated Bioinformatics Analysis. (PMID:31638412)
• RhoJ Regulates alpha5beta1 Integrin Trafficking to Control Fibronectin Remodeling during Angiogenesis. (PMID:32302585)
• RhoJ integrates attractive and repulsive cues in directional migration of endothelial cells. (PMID:32347571)
• Rhoj Is a Novel Target for Progression and Invasion of Glioblastoma by Impairing Cytoskeleton Dynamics. (PMID:32822001)
• Repression of RhoJ expression promotes TGF-beta-mediated EMT in human non-small-cell lung cancer A549cells. (PMID:34119829)
• RHOJ Induces Epithelial-to-Mesenchymal Transition by IL-6/STAT3 to Promote Invasion and Metastasis in Gastric Cancer. (PMID:37781036)
• Towards Understanding the Development of Breast Cancer: The Role of RhoJ in the Obesity Microenvironment. (PMID:38247865)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rhoj	ENSDARG00000020250
mus_musculus	Rhoj	ENSMUSG00000046768
rattus_norvegicus	Rhoj	ENSRNOG00000021919

Paralogs (22): RHOBTB2 (ENSG00000008853), RHOA (ENSG00000067560), CDC42 (ENSG00000070831), RHOBTB1 (ENSG00000072422), RHOV (ENSG00000104140), RND2 (ENSG00000108830), RND3 (ENSG00000115963), RHOU (ENSG00000116574), RHOQ (ENSG00000119729), RHOT1 (ENSG00000126858), RAC2 (ENSG00000128340), RAC1 (ENSG00000136238), RHOF (ENSG00000139725), RHOT2 (ENSG00000140983), RHOB (ENSG00000143878), RHOC (ENSG00000155366), RHOBTB3 (ENSG00000164292), RHOH (ENSG00000168421), RAC3 (ENSG00000169750), RND1 (ENSG00000172602), RHOD (ENSG00000173156), RHOG (ENSG00000177105)

Protein

Protein identifiers

Rho-related GTP-binding protein RhoJ — Q9H4E5 (reviewed: Q9H4E5)

Alternative names: Ras-like protein family member 7B, Tc10-like GTP-binding protein

All UniProt accessions (3): Q9H4E5, G3V476, G3V4H1

UniProt curated annotations — full annotation on UniProt →

Function. Plasma membrane-associated small GTPase specifically involved in angiogenesis. Required for endothelial cell migration during vascular development via its interaction with GLUL. Elicits the formation of F-actin-rich structures, thereby regulating endothelial cell migration.

Subunit / interactions. Interacts with the CRIB domains of proteins such as Pak1 and Was/Wasp. Interacts with GLUL.

Subcellular location. Cell membrane.

Tissue specificity. Specifically expressed in endothelial cells in different tissues, such as brain, heart, lung and liver.

Post-translational modifications. Palmitoylated; regulates localization to the plasma membrane and may be mediated by GLUL.

Induction. Expression is regulated by the transcription factor ERG.

Miscellaneous. Could be created by usage of an unusual splicing donor site.

Similarity. Belongs to the small GTPase superfamily. Rho family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H4E5-1	1	yes
Q9H4E5-2	2

RefSeq proteins (1): NP_065714* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR003578	Small_GTPase_Rho	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00071

UniProt features (22 total): mutagenesis site 8, binding site 5, lipid moiety-binding region 3, chain 1, propeptide 1, splice variant 1, short sequence motif 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4E5-F1	88.63	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 31–36; 46–53; 75–79; 133–136; 177–178

Post-translational modifications (4): 11, 211, 211, 3

Mutagenesis-validated functional residues (8):

Position	Phenotype
3	impaired localization to the plasma membrane.
11	impaired localization to the plasma membrane.
17–20	impaired localization to the plasma membrane.
17–18	does not affect localization to the plasma membrane.
19–20	impaired localization to the plasma membrane.
30	causes constitutive activation.
35	dominant negative mutant.
79	causes constitutive activation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9013409	RHOJ GTPase cycle

MSigDB gene sets: 199 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, PAL_PRMT5_TARGETS_UP, GOBP_CELL_MIGRATION_INVOLVED_IN_SPROUTING_ANGIOGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, SRF_Q5_01, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, SRF_C, GOBP_SPROUTING_ANGIOGENESIS, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, NF1_Q6_01

GO Biological Process (13): angiogenesis (GO:0001525), endocytosis (GO:0006897), actin filament organization (GO:0007015), signal transduction (GO:0007165), Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), regulation of endothelial cell migration (GO:0010594), establishment of cell polarity (GO:0030010), actin cytoskeleton organization (GO:0030036), retina vasculature morphogenesis in camera-type eye (GO:0061299), positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050), regulation of sprouting angiogenesis (GO:1903670), small GTPase-mediated signal transduction (GO:0007264)

GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
small GTPase-mediated signal transduction	1
regulation of cell morphogenesis	1
regulation of biological quality	1
regulation of cell migration	1
endothelial cell migration	1
establishment or maintenance of cell polarity	1
cytoskeleton organization	1
actin filament-based process	1
anatomical structure morphogenesis	1
retina vasculature development in camera-type eye	1
cell migration involved in sprouting angiogenesis	1
positive regulation of blood vessel endothelial cell migration	1
regulation of cell migration involved in sprouting angiogenesis	1
sprouting angiogenesis	1
regulation of angiogenesis	1
intracellular signaling cassette	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
kinase binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
membrane	1
cell periphery	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

3261 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RHOJ	DOCK8	Q8NF50	851
RHOJ	DOCK11	Q5JSL3	750
RHOJ	SIX4	Q9UIU6	690
RHOJ	SIX6	O95475	670
RHOJ	DHX8	Q14562	630
RHOJ	DOCK7	Q96N67	581
RHOJ	DOCK10	Q96BY6	556
RHOJ	RABIF	P47224	543
RHOJ	DOCK9	Q9BZ29	541
RHOJ	ITSN1	Q15811	533
RHOJ	DHX37	Q8IY37	518
RHOJ	DOCK1	Q14185	514
RHOJ	PCLO	Q9Y6V0	507
RHOJ	SIX1	Q15475	490
RHOJ	COL1A1	P02452	473

IntAct

77 interactions, top by confidence:

A	B	Type	Score
RHOJ	PAK2	psi-mi:“MI:0915”(physical association)	0.780
PARD6B	RHOJ	psi-mi:“MI:0915”(physical association)	0.780
RHOJ	PARD6B	psi-mi:“MI:0915”(physical association)	0.780
PAK2	RHOJ	psi-mi:“MI:0915”(physical association)	0.780
RHOJ	WASL	psi-mi:“MI:0915”(physical association)	0.720
WASL	RHOJ	psi-mi:“MI:0915”(physical association)	0.720
PAK6	RHOJ	psi-mi:“MI:0915”(physical association)	0.670
RHOJ	PAK6	psi-mi:“MI:0915”(physical association)	0.670
RHOJ	PAK1	psi-mi:“MI:0915”(physical association)	0.670
SSX3	RHOJ	psi-mi:“MI:0915”(physical association)	0.610
RHOJ	SSX3	psi-mi:“MI:0915”(physical association)	0.610
MEOX2	RHOJ	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	RHOJ	psi-mi:“MI:0915”(physical association)	0.560
CDC42EP1	RHOJ	psi-mi:“MI:0915”(physical association)	0.560
RHOJ	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	RHOJ	psi-mi:“MI:0915”(physical association)	0.560
RHOJ	BLZF1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (652): RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), RHOJ (Two-hybrid), PARD6B (Two-hybrid), EIF5B (Affinity Capture-MS), PRKCI (Affinity Capture-MS), PAK2 (Affinity Capture-MS), CSNK1D (Affinity Capture-MS)

ESM2 similar proteins: A0FGR8, A1DZY4, A5D7J5, O35141, O35929, O75628, O75808, O94103, P01114, P01115, P0C0E4, P27040, P35739, P55040, P55041, P55043, P63032, P63033, P70268, Q00993, Q06AU5, Q13637, Q17QI8, Q3UFB7, Q496Y0, Q5R541, Q63433, Q67VP4, Q6IMB1, Q6P0U3, Q6T310, Q7L0Q8, Q7YS69, Q864R5, Q8HXH0, Q8IYK8, Q8J212, Q8QFP8, Q8VDU1, Q8VEL9

Diamond homologs: A0A286QZ36, A5D7J5, C4YDI6, O04369, O76321, O82480, O82481, O88931, O94103, O96390, P01122, P08134, P0CY33, P15153, P17081, P19073, P24406, P34144, P34145, P34146, P34147, P34148, P34149, P34150, P40792, P40793, P48148, P48554, P60763, P60764, P60766, P60952, P60953, P61585, P61586, P61589, P62998, P62999, P63000, P63001

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 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
RHOV GTPase cycle	7	99.9×	3e-11
RHOJ GTPase cycle	6	60.1×	1e-08
RHOQ GTPase cycle	6	54.4×	1e-08
CDC42 GTPase cycle	8	28.9×	5e-09
RAC1 GTPase cycle	8	24.4×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
regulation of MAPK cascade	6	113.9×	2e-09
cellular response to starvation	6	48.4×	2e-07
cell migration	6	15.4×	1e-04
intracellular signal transduction	6	9.5×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1308 predictions. Top by Δscore:

Variant	Effect	Δscore
14:63205045:CAGG:C	donor_loss	1.0000
14:63205047:GGTAA:G	donor_loss	1.0000
14:63205048:G:GA	donor_loss	1.0000
14:63205049:T:A	donor_loss	1.0000
14:63281070:G:GT	donor_gain	1.0000
14:63281094:G:GT	donor_gain	1.0000
14:63283214:GCG:G	donor_gain	1.0000
14:63284338:G:GG	donor_gain	1.0000
14:63284383:GATCC:G	donor_gain	1.0000
14:63284387:C:CG	donor_gain	1.0000
14:63284387:C:G	donor_gain	1.0000
14:63205014:GAA:G	donor_gain	0.9900
14:63205044:GCAG:G	donor_gain	0.9900
14:63283221:A:AG	donor_gain	0.9900
14:63283222:G:GG	donor_gain	0.9900
14:63205048:G:GG	donor_gain	0.9800
14:63269108:A:AG	acceptor_gain	0.9800
14:63269109:G:GG	acceptor_gain	0.9800
14:63283217:G:GG	donor_gain	0.9800
14:63284391:G:GG	donor_gain	0.9800
14:63290876:A:G	acceptor_gain	0.9800
14:63281073:GAA:G	donor_gain	0.9700
14:63283212:AAGCG:A	donor_loss	0.9700
14:63283213:AGCGG:A	donor_loss	0.9700
14:63283214:GCGGT:G	donor_loss	0.9700
14:63283215:CGGT:C	donor_loss	0.9700
14:63283216:GGTAC:G	donor_loss	0.9700
14:63283217:GTACA:G	donor_loss	0.9700
14:63283218:T:TT	donor_loss	0.9700
14:63290877:G:GG	acceptor_gain	0.9700

AlphaMissense

1411 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:63204966:G:A	G33R	1.000
14:63204966:G:C	G33R	1.000
14:63204966:G:T	G33W	1.000
14:63204967:G:A	G33E	1.000
14:63204970:A:T	K34I	1.000
14:63205005:T:C	F46L	1.000
14:63205007:C:A	F46L	1.000
14:63205007:C:G	F46L	1.000
14:63205032:T:C	F55L	1.000
14:63205034:T:A	F55L	1.000
14:63205034:T:G	F55L	1.000
14:63269154:G:C	D75H	1.000
14:63269155:A:C	D75A	1.000
14:63269155:A:G	D75G	1.000
14:63269155:A:T	D75V	1.000
14:63269156:C:A	D75E	1.000
14:63269156:C:G	D75E	1.000
14:63281030:C:G	C99W	1.000
14:63281076:T:A	W115R	1.000
14:63281076:T:C	W115R	1.000
14:63281078:G:C	W115C	1.000
14:63281078:G:T	W115C	1.000
14:63281127:G:T	G132W	1.000
14:63283128:T:C	L137P	1.000
14:63204951:G:A	G28R	0.999
14:63204951:G:C	G28R	0.999
14:63204951:G:T	G28W	0.999
14:63204952:G:A	G28E	0.999
14:63204952:G:T	G28V	0.999
14:63204955:A:T	D29V	0.999

dbSNP variants (sampled 300 via entrez): RS1000060517 (14:63279663 C>G,T), RS1000060772 (14:63225068 C>G), RS1000107560 (14:63254078 C>G), RS1000114346 (14:63210439 C>A), RS1000130187 (14:63275881 C>G,T), RS1000172222 (14:63211537 G>A), RS1000230459 (14:63275688 A>G), RS1000238864 (14:63219245 T>A), RS1000247266 (14:63219036 C>T), RS1000275639 (14:63218702 A>G), RS1000284661 (14:63270193 T>C), RS1000327233 (14:63256730 G>A), RS1000409502 (14:63225151 C>T), RS1000429586 (14:63213056 A>T), RS1000475617 (14:63284738 T>C)

Disease associations

OMIM: gene MIM:607653 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004873_22	Endometriosis	5.000000e-16
GCST006979_1004	Heel bone mineral density	8.000000e-19
GCST009391_1777	Metabolite levels	3.000000e-06
GCST009391_634	Metabolite levels	4.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0010457	Alpha ketoglutarate measurement
EFO:0010480	fumarate measurement
EFO:0010509	maleate measurement
EFO:0010503	inosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	5
trichostatin A	affects cotreatment, increases expression	3
Phenylmercuric Acetate	affects cotreatment, increases expression	2
bisphenol F	increases expression	1
mivebresib	decreases expression	1
methylmercuric chloride	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
cobaltous chloride	decreases expression	1
vanadyl sulfate	increases expression	1
CGP 52608	increases reaction, affects binding	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression	1
Temozolomide	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Dexamethasone	increases expression	1
Diethylhexyl Phthalate	increases expression	1
Formaldehyde	decreases expression	1
Smoke	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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