ARHGEF16

Summary

ARHGEF16 (Rho guanine nucleotide exchange factor 16, HGNC:15515) is a protein-coding gene on chromosome 1p36.32, encoding Rho guanine nucleotide exchange factor 16 (Q5VV41). Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP.

Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions.

Source: NCBI Gene 27237 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 151 total — 2 pathogenic
• MANE Select transcript: NM_014448

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15515
Approved symbol	ARHGEF16
Name	Rho guanine nucleotide exchange factor 16
Location	1p36.32
Locus type	gene with protein product
Status	Approved
Aliases	NBR, GEF16
Ensembl gene	ENSG00000130762
Ensembl biotype	protein_coding
OMIM	618871
Entrez	27237

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 retained_intron

ENST00000378371, ENST00000378373, ENST00000378378, ENST00000418137, ENST00000445297, ENST00000464620, ENST00000485984, ENST00000868561, ENST00000868562, ENST00000868563, ENST00000868564, ENST00000943437

RefSeq mRNA: 1 — MANE Select: NM_014448 NM_014448

CCDS: CCDS46

Canonical transcript exons

ENST00000378378 — 15 exons

Exon	Start	End
ENSE00000896177	3477875	3478026
ENSE00000896180	3478424	3478612
ENSE00001689961	3466148	3466193
ENSE00001710589	3454665	3454811
ENSE00002223728	3463066	3463672
ENSE00003466198	3473393	3473522
ENSE00003473671	3475970	3476062
ENSE00003485233	3468880	3468936
ENSE00003489864	3479517	3479590
ENSE00003500040	3467168	3467337
ENSE00003509475	3479812	3479913
ENSE00003575357	3469433	3469593
ENSE00003616224	3480448	3481113
ENSE00003664132	3473078	3473230
ENSE00003679956	3474708	3474782

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 95.25.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7564 / max 57.6909, expressed in 605 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
290	1.0377	399
291	0.6169	369
288	0.4247	265
287	0.3853	239
295	0.1664	98
289	0.1145	54
294	0.0110	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.25	gold quality
metanephros cortex	UBERON:0010533	93.92	gold quality
ileal mucosa	UBERON:0000331	90.79	gold quality
lower esophagus mucosa	UBERON:0035834	90.34	gold quality
pancreatic ductal cell	CL:0002079	89.63	silver quality
minor salivary gland	UBERON:0001830	88.37	gold quality
transverse colon	UBERON:0001157	87.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.42	gold quality
sural nerve	UBERON:0015488	87.25	gold quality
esophagus mucosa	UBERON:0002469	87.16	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.08	gold quality
tibial nerve	UBERON:0001323	87.04	gold quality
right lobe of thyroid gland	UBERON:0001119	86.68	gold quality
saliva-secreting gland	UBERON:0001044	86.55	gold quality
duodenum	UBERON:0002114	86.26	gold quality
small intestine	UBERON:0002108	86.04	gold quality
oocyte	CL:0000023	85.97	gold quality
mouth mucosa	UBERON:0003729	85.97	gold quality
secondary oocyte	CL:0000655	85.93	gold quality
body of stomach	UBERON:0001161	85.72	gold quality
pituitary gland	UBERON:0000007	85.28	gold quality
left lobe of thyroid gland	UBERON:0001120	85.23	gold quality
adenohypophysis	UBERON:0002196	84.86	gold quality
endometrium epithelium	UBERON:0004811	84.05	silver quality
gall bladder	UBERON:0002110	84.01	gold quality
adult mammalian kidney	UBERON:0000082	83.94	gold quality
thyroid gland	UBERON:0002046	83.59	gold quality
body of pancreas	UBERON:0001150	83.45	gold quality
stomach	UBERON:0000945	83.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.97	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting ARHGEF16, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-4313	97.18	63.15	420
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-4433A-5P	96.79	65.01	599
HSA-MIR-4433B-5P	95.91	66.56	727

Literature-anchored findings (GeneRIF, showing 5)

• Sixty-four novel structural analogues of Y27632 were synthesized and tested for their ability to persistently inhibit the transformation of NIH3T3 cells by Rho guanidine exchange factor 16 (ARHGEF16) or Ras. (PMID:19707205)
• The ephexin4 protein mediates cell migration through a RhoG-dependent mechanism. (PMID:20679435)
• These data suggest that HPV16 E6, Tip-1 and ARHGEF16 may cooperate to activate Cdc42 and support a potential link between the expression of HPV16 E6 and Cdc42 activation (PMID:21139582)
• Authors found that ARHGEF16 mRNA level was upregulated in U87 cells overexpressing GLI2A relative to control cells. GLI2 binds to the ARHGEF16 promoter and activates gene transcription. Glioma cells U87 and U118 overexpressing ARHGEF16 showed enhanced migration and proliferation. (PMID:30305138)
• FYN is required for ARHGEF16 to promote proliferation and migration in colon cancer cells. (PMID:32811808)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgef16	ENSDARG00000077114
mus_musculus	Arhgef16	ENSMUSG00000029032
rattus_norvegicus	Arhgef16	ENSRNOG00000046803
caenorhabditis_elegans		WBGENE00019487

Paralogs (6): ARHGEF5 (ENSG00000050327), NGEF (ENSG00000066248), ARHGEF26 (ENSG00000114790), ARHGEF19 (ENSG00000142632), ARHGEF15 (ENSG00000198844), ARHGEF35 (ENSG00000213214)

Protein

Protein identifiers

Rho guanine nucleotide exchange factor 16 — Q5VV41 (reviewed: Q5VV41)

Alternative names: Ephexin-4

All UniProt accessions (3): Q5VV41, B0QZD3, B0QZD4

UniProt curated annotations — full annotation on UniProt →

Function. Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6.

Subunit / interactions. Interacts with ELMO2, EPHA2, RAC1 and RHOG; mediates activation of RAC1 by EPHA2. Interacts with TAX1BP3 (via PDZ domain). May interact with CDC42; stimulated by HPV16 E6.

Subcellular location. Cytoplasm.

Domain organisation. The PDZ-binding motif mediates interaction with TAX1BP3.

Induction. Up-regulated by HPV16 E6 (at protein level).

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VV41-1	1	yes
Q5VV41-2	2

RefSeq proteins (1): NP_055263* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035797	ARHGEF16/ARHGEF26_SH3	Domain
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR047270	PH_ephexin	Domain
IPR047271	Ephexin-like	Family

Pfam: PF00018, PF00169, PF00621

UniProt features (36 total): modified residue 11, strand 6, sequence variant 4, region of interest 4, domain 3, initiator methionine 1, chain 1, compositionally biased region 1, splice variant 1, sequence conflict 1, turn 1, helix 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1X6B	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VV41-F1	69.52	0.38

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 (11): 2, 6, 41, 107, 174, 191, 208, 226, 227, 230, 240

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-193648	NRAGE signals death through JNK
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-193704	p75 NTR receptor-mediated signalling
R-HSA-194315	Signaling by Rho GTPases
R-HSA-204998	Cell death signalling via NRAGE, NRIF and NADE
R-HSA-372790	Signaling by GPCR
R-HSA-388396	GPCR downstream signalling
R-HSA-73887	Death Receptor Signaling
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 138 (showing top): GOBP_CELL_CHEMOTAXIS, GOBP_ACTIVATION_OF_GTPASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, GOMF_GTPASE_BINDING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_TAXIS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (5): regulation of Cdc42 protein signal transduction (GO:0032489), regulation of actin cytoskeleton organization (GO:0032956), cell chemotaxis (GO:0060326), activation of GTPase activity (GO:0090630), positive regulation of protein localization to plasma membrane (GO:1903078)

GO Molecular Function (7): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), PDZ domain binding (GO:0030165), receptor tyrosine kinase binding (GO:0030971), small GTPase binding (GO:0031267), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Signal Transduction	3
RHO GTPase cycle	2
Cell death signalling via NRAGE, NRIF and NADE	1
GPCR downstream signalling	1
Death Receptor Signaling	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
p75 NTR receptor-mediated signalling	1
Signaling by GPCR	1
Signaling by Rho GTPases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase regulator activity	2
cellular anatomical structure	2
Cdc42 protein signal transduction	1
regulation of Rho protein signal transduction	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
chemotaxis	1
cell migration	1
cellular response to chemical stimulus	1
positive regulation of GTPase activity	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
positive regulation of protein localization to cell periphery	1
positive regulation of protein localization to membrane	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
protein domain specific binding	1
signaling receptor binding	1
protein tyrosine kinase binding	1
GTPase binding	1
cell adhesion molecule binding	1
binding	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

848 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGEF16	SCRIB	Q14160	739
ARHGEF16	EPHA2	P29317	690
ARHGEF16	TAX1BP3	O14907	678
ARHGEF16	RHOG	P35238	621
ARHGEF16	ARHGEF38	Q9NXL2	561
ARHGEF16	ELMO2	Q96JJ3	519
ARHGEF16	DOCK11	Q5JSL3	500
ARHGEF16	DOCK9	Q9BZ29	480
ARHGEF16	DOCK4	Q8N1I0	477
ARHGEF16	ALS2	Q96Q42	473
ARHGEF16	TPRG1L	Q5T0D9	471
ARHGEF16	WRAP73	Q9P2S5	461
ARHGEF16	ACTRT2	Q8TDY3	426
ARHGEF16	DOCK3	Q8IZD9	412
ARHGEF16	MCF2	P10911	406

IntAct

303 interactions, top by confidence:

A	B	Type	Score
SCRIB	ARHGEF16	psi-mi:“MI:0407”(direct interaction)	0.780
ARHGEF16	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.780
ARHGEF16	SCRIB	psi-mi:“MI:0915”(physical association)	0.780
DLG1	ARHGEF16	psi-mi:“MI:0407”(direct interaction)	0.710
ARHGEF16	DLG1	psi-mi:“MI:0407”(direct interaction)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
SFN	ARHGEF16	psi-mi:“MI:0915”(physical association)	0.630
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
ARHGEF16	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.610
ARHGEF16	MAST2	psi-mi:“MI:0407”(direct interaction)	0.610
MAGI2	ARHGEF16	psi-mi:“MI:0407”(direct interaction)	0.610
ARHGEF16	SNTB2	psi-mi:“MI:0407”(direct interaction)	0.590
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
TFG	ARHGEF16	psi-mi:“MI:0915”(physical association)	0.560
MAPK1IP1L	ARHGEF16	psi-mi:“MI:0915”(physical association)	0.560
ARHGEF16	TFG	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (118): ARHGEF16 (Two-hybrid), MAPK1IP1L (Two-hybrid), ELMO1 (Affinity Capture-Western), ARHGEF16 (Proximity Label-MS), ATP1A2 (Affinity Capture-MS), DPP8 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), PRKCI (Affinity Capture-MS), IFT122 (Affinity Capture-MS), PML (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), ARHGEF16 (Two-hybrid), ARHGEF16 (Affinity Capture-RNA), ARHGEF16 (Affinity Capture-MS), ARHGEF16 (Proximity Label-MS)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A6QP29, B1AVH7, B2RUP2, B5DFA1, D2H0G5, D3ZFJ3, O15068, O55043, P00530, P07332, P14238, P16879, P55194, P98171, Q0GNC1, Q14155, Q15052, Q27J81, Q3U5C8, Q3UMR0, Q58EX7, Q5VV41, Q5XXR3, Q5ZLR6, Q60I26, Q63406, Q64096, Q6PFY1, Q6PGG2, Q70J99, Q7TNH6, Q80TT2, Q80VK6, Q86WN1, Q8C2K1, Q8C6B2, Q8CJ00

Diamond homologs: A5YM69, E9Q7D5, O94989, Q12774, Q3U5C8, Q5BKC9, Q5FWH6, Q5RDX5, Q5VV41, Q8BWA8, Q8C120, Q8CHT1, Q8IW93, Q8N5V2, Q96DR7, Q8TEJ3, O42287, Q15811, Q9Z0R6, A1IGU3, A1IGU4, A1IGU5, Q62417, Q9NZM3, O60229, Q498M5, Q8BZT2, Q8IVI9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 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
Activation of BAD and translocation to mitochondria	7	65.0×	1e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	57.4×	1e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	57.4×	1e-09
Activation of BH3-only proteins	7	42.4×	9e-09
Signaling by Hippo	5	33.2×	8e-06
RHO GTPases activate PKNs	8	30.9×	8e-09
Intrinsic Pathway for Apoptosis	7	25.0×	3e-07
Assembly and cell surface presentation of NMDA receptors	8	24.8×	4e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	51.9×	2e-12
protein localization to synapse	6	41.0×	8e-07
receptor clustering	7	39.0×	7e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	8	35.4×	1e-08
protein targeting	9	29.4×	6e-09
intracellular protein localization	11	10.3×	1e-06
protein-containing complex assembly	9	9.2×	5e-05
cell-cell adhesion	10	9.1×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	115
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1412663	NC_000001.10:g.(?861322)(3768971_?)del	Pathogenic
57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	Pathogenic

SpliceAI

3434 predictions. Top by Δscore:

Variant	Effect	Δscore
1:3466189:GGACG:G	donor_gain	1.0000
1:3466190:GACGG:G	donor_gain	1.0000
1:3467166:A:AG	acceptor_gain	1.0000
1:3467167:G:GA	acceptor_gain	1.0000
1:3467167:GA:G	acceptor_gain	1.0000
1:3467167:GAC:G	acceptor_gain	1.0000
1:3467167:GACC:G	acceptor_gain	1.0000
1:3467167:GACCC:G	acceptor_gain	1.0000
1:3467291:TC:T	donor_gain	1.0000
1:3467335:GAG:G	donor_gain	1.0000
1:3467337:GG:G	donor_loss	1.0000
1:3469432:GGCC:G	acceptor_gain	1.0000
1:3469589:CAGAG:C	donor_loss	1.0000
1:3469590:AGAG:A	donor_loss	1.0000
1:3469591:GAG:G	donor_gain	1.0000
1:3469591:GAGGT:G	donor_loss	1.0000
1:3469592:AGG:A	donor_loss	1.0000
1:3469593:GGTG:G	donor_loss	1.0000
1:3469594:G:A	donor_loss	1.0000
1:3469595:T:G	donor_loss	1.0000
1:3473073:TTCA:T	acceptor_loss	1.0000
1:3473075:CA:C	acceptor_loss	1.0000
1:3473076:A:AG	acceptor_gain	1.0000
1:3473077:G:A	acceptor_loss	1.0000
1:3473077:G:GA	acceptor_gain	1.0000
1:3473077:GGT:G	acceptor_gain	1.0000
1:3473077:GGTTC:G	acceptor_gain	1.0000
1:3473228:GAT:G	donor_gain	1.0000
1:3473228:GATGT:G	donor_loss	1.0000
1:3473229:ATGTG:A	donor_loss	1.0000

AlphaMissense

4655 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:3479533:T:A	W611R	0.998
1:3479533:T:C	W611R	0.998
1:3467320:T:A	W263R	0.997
1:3467320:T:C	W263R	0.997
1:3467322:G:C	W263C	0.996
1:3467322:G:T	W263C	0.996
1:3478005:T:C	L535P	0.996
1:3478008:T:A	V536D	0.995
1:3473492:G:C	Q425H	0.994
1:3473492:G:T	Q425H	0.994
1:3473494:G:C	R426P	0.994
1:3479535:G:C	W611C	0.994
1:3479535:G:T	W611C	0.994
1:3480489:T:A	W678R	0.994
1:3480489:T:C	W678R	0.994
1:3473092:T:C	L346P	0.993
1:3478441:T:A	V548D	0.993
1:3480460:G:A	G668D	0.993
1:3469454:T:C	S295P	0.992
1:3473472:T:C	F419L	0.992
1:3473474:C:A	F419L	0.992
1:3473474:C:G	F419L	0.992
1:3478546:T:C	F583S	0.992
1:3469556:T:C	F329L	0.991
1:3469558:C:A	F329L	0.991
1:3469558:C:G	F329L	0.991
1:3473189:C:G	C378W	0.991
1:3473485:C:A	P423H	0.991
1:3473506:T:C	L430P	0.991
1:3469554:T:C	L328P	0.990

dbSNP variants (sampled 300 via entrez): RS1000041823 (1:3453371 G>C), RS1000097390 (1:3458164 G>A), RS1000113947 (1:3471006 G>T), RS1000114696 (1:3478820 C>G), RS1000153481 (1:3466789 T>C), RS1000168549 (1:3479001 G>A,T), RS1000364086 (1:3454555 T>A,G), RS1000512754 (1:3469854 G>A), RS1000530534 (1:3459126 G>A,C), RS1000588014 (1:3469635 G>A,T), RS1000713418 (1:3477257 T>A,C,G), RS1000772925 (1:3474419 G>A), RS1000904082 (1:3461662 C>T), RS1000994739 (1:3477095 G>A,C), RS1001038365 (1:3454349 G>C)

Disease associations

OMIM: gene MIM:618871 | disease phenotypes: MIM:615349, MIM:615593, MIM:616126, MIM:616781, MIM:271640

GenCC curated gene-disease

Mondo (5): Ehlers-Danlos syndrome, spondylodysplastic type, 2 (MONDO:0014139), combined immunodeficiency due to OX40 deficiency (MONDO:0014268), Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency (MONDO:0014502), Joubert syndrome 25 (MONDO:0014770), spondyloepimetaphyseal dysplasia with joint laxity (MONDO:0019675)

Orphanet (6): Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency (Orphanet:319563), Combined immunodeficiency due to OX40 deficiency (Orphanet:431149), Isolated Joubert syndrome (Orphanet:475), B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (Orphanet:536467), B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (Orphanet:75496), OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000635_27	Response to statin therapy	2.000000e-06
GCST009268_7	Dental caries (decayed, missing and filled tooth surfaces)	3.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562968	Spondyloepimetaphyseal Dysplasia With Joint Laxity (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	decreases methylation, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Calcitriol	increases expression	2
Smoke	increases expression, decreases expression	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
kojic acid	decreases expression	1
terbufos	increases methylation	1
trichostatin A	affects cotreatment, affects expression, affects methylation	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cupric chloride	decreases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
pentanal	increases expression	1
seocalcitol	increases expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	affects cotreatment, affects expression, affects methylation	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
Diazinon	increases methylation	1

Clinical trials (associated diseases)

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