SHROOM2

Summary

SHROOM2 (shroom family member 2, HGNC:630) is a protein-coding gene on chromosome Xp22.2, encoding Protein Shroom2 (Q13796). May be involved in endothelial cell morphology changes during cell spreading.

This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 357 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 366 total — 1 likely-pathogenic
• MANE Select transcript: NM_001649

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:630
Approved symbol	SHROOM2
Name	shroom family member 2
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000146950
Ensembl biotype	protein_coding
OMIM	300103
Entrez	357

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000380913, ENST00000418909, ENST00000452575, ENST00000493668

RefSeq mRNA: 3 — MANE Select: NM_001649 NM_001320663, NM_001320664, NM_001649

CCDS: CCDS14135, CCDS83453

Canonical transcript exons

ENST00000380913 — 10 exons

Exon	Start	End
ENSE00001027334	9944641	9944913
ENSE00001027338	9937134	9937685
ENSE00001027342	9939195	9939366
ENSE00001486785	9946671	9949443
ENSE00001607553	9898190	9898290
ENSE00001687132	9894358	9896698
ENSE00001696708	9890977	9891108
ENSE00001787360	9873652	9873803
ENSE00002258590	9786429	9786710
ENSE00003514169	9932175	9932870

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 89.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6571 / max 71.8134, expressed in 1042 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195454	2.8318	696
195459	0.6028	241
195460	0.5626	227
195462	0.5179	186
195453	0.5113	369
209596	0.1245	51
195469	0.1100	52
195463	0.1060	55
195464	0.0892	50
195468	0.0654	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	89.74	gold quality
endothelial cell	CL:0000115	89.49	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.86	gold quality
secondary oocyte	CL:0000655	86.06	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.88	gold quality
primary visual cortex	UBERON:0002436	84.98	gold quality
pigmented layer of retina	UBERON:0001782	83.86	gold quality
Brodmann (1909) area 10	UBERON:0013541	83.00	gold quality
prefrontal cortex	UBERON:0000451	82.07	gold quality
hair follicle	UBERON:0002073	81.08	silver quality
orbitofrontal cortex	UBERON:0004167	81.08	gold quality
esophagus squamous epithelium	UBERON:0006920	80.92	gold quality
occipital lobe	UBERON:0002021	80.69	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.09	gold quality
frontal cortex	UBERON:0001870	79.96	gold quality
oocyte	CL:0000023	79.65	gold quality
neocortex	UBERON:0001950	79.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.29	gold quality
endometrium epithelium	UBERON:0004811	79.02	gold quality
superior frontal gyrus	UBERON:0002661	79.01	gold quality
cortical plate	UBERON:0005343	79.00	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.00	gold quality
epithelium of esophagus	UBERON:0001976	78.95	gold quality
sperm	CL:0000019	78.90	gold quality
postcentral gyrus	UBERON:0002581	78.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.57	gold quality
tibia	UBERON:0000979	78.36	gold quality
squamous epithelium	UBERON:0006914	78.28	gold quality
cerebral cortex	UBERON:0000956	77.99	gold quality
cervix squamous epithelium	UBERON:0006922	77.87	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting SHROOM2, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-586	99.65	70.40	2051

Literature-anchored findings (GeneRIF, showing 5)

• Data suggest that Shroom2 facilitates the formation of a contractile network within endothelial cells, the loss of which leads to an increase in endothelial sprouting, migration, and angiogenesis. (PMID:21248203)
• We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 x 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 x 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 x 10(-10)). (PMID:22634755)
• These findings provide genetic and molecular insights into the effects of rare damaging variants in SHROOM2, indicating that such variants of SHROOM2 might contribute to the risk of human Neural tube defects (PMID:29423651)
• SHROOM2 deletion is associated with Ocular albinism with infertility and late-onset sensorineural hearing loss. (PMID:30160833)
• SHROOM2 is downregulated in nasopharyngeal carcinoma and is implicated in the suppression of cancer cell invasion and metastasis by preventing EMT, which is largely independent of Rho-ROCK signaling. (PMID:30683844)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	SHROOM2	ENSDARG00000076371
danio_rerio	shroom2a	ENSDARG00000076416
mus_musculus	Shroom2	ENSMUSG00000045180
rattus_norvegicus	Shroom2	ENSRNOG00000024322

Paralogs (3): SHROOM3 (ENSG00000138771), SHROOM4 (ENSG00000158352), SHROOM1 (ENSG00000164403)

Protein

Protein identifiers

Protein Shroom2 — Q13796 (reviewed: Q13796)

Alternative names: Apical-like protein, Protein APXL

All UniProt accessions (3): Q13796, C9IZC6, F5H3B6

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution.

Subunit / interactions. Interacts with F-actin.

Subcellular location. Apical cell membrane. Cell junction. Tight junction. Cytoplasm. Cytoskeleton.

Tissue specificity. Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.

Domain organisation. The ASD1 domain mediates F-actin binding.

Similarity. Belongs to the shroom family.

RefSeq proteins (3): NP_001307592, NP_001307593, NP_001640* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR014799	ASD2_dom	Domain
IPR014800	ASD1_dom	Domain
IPR027685	Shroom_fam	Family
IPR036034	PDZ_sf	Homologous_superfamily

Pfam: PF00595, PF08687, PF08688

UniProt features (54 total): modified residue 16, compositionally biased region 15, region of interest 10, helix 5, sequence variant 4, domain 3, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5F4Y	X-RAY DIFFRACTION	3.29
5F5P	X-RAY DIFFRACTION	3.57

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13796-F1	48.52	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 (16): 231, 313, 325, 413, 851, 897, 921, 922, 924, 925, 974, 1036, 1039, 1171, 1173, 1297

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 162 (showing top): GOBP_APICAL_PROTEIN_LOCALIZATION, TGGTGCT_MIR29A_MIR29B_MIR29C, AAGCAAT_MIR137, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GOBP_CELLULAR_PIGMENTATION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_PIGMENTATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EAR_DEVELOPMENT

GO Biological Process (13): lens morphogenesis in camera-type eye (GO:0002089), actin filament organization (GO:0007015), brain development (GO:0007420), eye pigment granule organization (GO:0008057), cell migration (GO:0016477), establishment of melanosome localization (GO:0032401), melanosome organization (GO:0032438), camera-type eye development (GO:0043010), cellular pigment accumulation (GO:0043482), ear development (GO:0043583), apical protein localization (GO:0045176), camera-type eye morphogenesis (GO:0048593), sodium ion transmembrane transport (GO:0035725)

GO Molecular Function (5): actin binding (GO:0003779), beta-catenin binding (GO:0008013), ligand-gated sodium channel activity (GO:0015280), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (12): cytoskeleton (GO:0005856), microtubule (GO:0005874), plasma membrane (GO:0005886), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), apical plasma membrane (GO:0016324), apical junction complex (GO:0043296), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020), cortical actin cytoskeleton (GO:0030864), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
pigment granule organization	2
cell-cell junction	2
cellular anatomical structure	2
lens development in camera-type eye	1
anatomical structure morphogenesis	1
camera-type eye morphogenesis	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
central nervous system development	1
animal organ development	1
head development	1
cell motility	1
melanosome localization	1
establishment of pigment granule localization	1
eye development	1
cellular pigmentation	1
pigment accumulation	1
cellular response to stimulus	1
sensory organ development	1
intracellular protein localization	1
camera-type eye development	1
eye morphogenesis	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
cytoskeletal protein binding	1
protein binding	1
sodium channel activity	1
ligand-gated monoatomic cation channel activity	1
actin binding	1
protein-containing complex binding	1
binding	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
apical part of cell	1
plasma membrane region	1

Protein interactions and networks

STRING

1446 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHROOM2	GPR143	P51810	878
SHROOM2	TJP1	Q07157	859
SHROOM2	AMELX	Q99217	650
SHROOM2	WWC3	Q9ULE0	589
SHROOM2	APEX1	P27695	583
SHROOM2	TBL1X	O60907	579
SHROOM2	MYO7A	P78427	550
SHROOM2	ROCK1	Q13464	508
SHROOM2	TJP2	Q9UDY2	506
SHROOM2	CD99	P14209	504
SHROOM2	FAM9A	Q8IZU1	448
SHROOM2	MLANA	Q16655	426
SHROOM2	PLCXD1	Q9NUJ7	422
SHROOM2	SHROOM1	Q2M3G4	401
SHROOM2	SHROOM4	Q9ULL8	393

IntAct

47 interactions, top by confidence:

A	B	Type	Score
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
SLC15A5	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
SLCO1C1	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
ABCC4	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
CYSLTR2	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNA5	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF16	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
ASIC3	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
ATP2B4	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
DGKK	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
DGKZ	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
DOCK4	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
FZD7	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
TAMALIN	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
E6	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
ORF putative E6	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
KIR3DL3	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
MAP2K2	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
PBK	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
RALBP1	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
RASSF6	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
TJP2	SHROOM2	psi-mi:“MI:0407”(direct interaction)	0.440
SHROOM2	SRC	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (17): SHROOM2 (Affinity Capture-RNA), SHROOM2 (Affinity Capture-MS), SHROOM2 (Protein-peptide), SHROOM2 (Affinity Capture-RNA), SHROOM2 (Affinity Capture-MS), SHROOM2 (Proximity Label-MS), SHROOM2 (Affinity Capture-RNA), SHROOM2 (Affinity Capture-MS), SHROOM2 (Affinity Capture-MS), SHROOM2 (Affinity Capture-MS), SHROOM2 (Proximity Label-MS), SHROOM2 (Reconstituted Complex), SHROOM2 (Two-hybrid), SHROOM2 (Reconstituted Complex), MSN (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2A7S8, A2AI08, A5D7K1, B0BN13, O54931, O75128, Q13796, Q2NL68, Q32LQ1, Q3U2K0, Q499V8, Q4KMQ1, Q5JTD0, Q5JXC2, Q5NBX1, Q5RBH3, Q5SW24, Q5SX79, Q5T0Z8, Q5XHX2, Q68DK7, Q6P9J5, Q6PDH0, Q6PDM1, Q6PFX7, Q7TN08, Q7TT28, Q7Z591, Q86WR7, Q8BG26, Q8BI29, Q8BRV5, Q8C5R2, Q8CC35, Q8CCJ4, Q8IVT2, Q8IY92, Q8K124, Q8N3V7, Q8N7J2

Diamond homologs: A1Z9P3, Q09JY9, Q13796, Q1W617, Q7TP36, Q8TF72, Q9QXN0, Q9ULL8, A1ZA47, A2ALU4, A5H447, D4A702, E1BKA3, O00151, O14639, O43294, O60711, O70209, O70400, O75112, O94929, P20271, P48059, P49023, P49024, P50464, P52944, Q09476, Q0WSN2, Q15942, Q1JQB5, Q2KJ33, Q2TCH4, Q2YDK0, Q3MHZ4, Q3SX26, Q3SX40, Q3SYZ8, Q3T0X8, Q3TJD7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
Downstream signal transduction	5	52.9×	8e-06
FCGR3A-mediated phagocytosis	5	26.0×	5e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	21.4×	1e-04
SARS-CoV-1 Infection	5	19.8×	1e-04
VEGFA-VEGFR2 Pathway	5	19.3×	1e-04
SARS-CoV-2 Infection	6	13.4×	1e-04
SARS-CoV Infections	7	10.8×	1e-04
RHO GTPase Effectors	5	9.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	219
Likely benign	53
Benign	25

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1174005	NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)	Likely pathogenic

SpliceAI

2519 predictions. Top by Δscore:

Variant	Effect	Δscore
X:9786707:CAAGG:C	donor_loss	1.0000
X:9786708:AAGG:A	donor_loss	1.0000
X:9786709:AGGTA:A	donor_loss	1.0000
X:9786711:G:GG	donor_gain	1.0000
X:9786711:G:T	donor_loss	1.0000
X:9786712:T:A	donor_loss	1.0000
X:9873646:TTACA:T	acceptor_loss	1.0000
X:9873647:TACA:T	acceptor_loss	1.0000
X:9873648:ACAG:A	acceptor_loss	1.0000
X:9873649:CA:C	acceptor_loss	1.0000
X:9873650:A:AG	acceptor_gain	1.0000
X:9873650:A:C	acceptor_loss	1.0000
X:9873651:G:GG	acceptor_gain	1.0000
X:9873748:G:GT	donor_gain	1.0000
X:9873799:AAAAG:A	donor_loss	1.0000
X:9873800:AAAGG:A	donor_loss	1.0000
X:9873801:AAGG:A	donor_loss	1.0000
X:9873802:AGGTA:A	donor_loss	1.0000
X:9873804:GT:G	donor_loss	1.0000
X:9873805:T:A	donor_loss	1.0000
X:9932867:CCAGG:C	donor_loss	1.0000
X:9932868:CAGG:C	donor_loss	1.0000
X:9932869:AGGTA:A	donor_loss	1.0000
X:9932870:GG:G	donor_loss	1.0000
X:9932871:G:GC	donor_loss	1.0000
X:9932872:T:A	donor_loss	1.0000
X:9937641:G:GT	donor_gain	1.0000
X:9937681:GAGAG:G	donor_gain	1.0000
X:9937683:GAG:G	donor_gain	1.0000
X:9937686:G:GA	donor_loss	1.0000

AlphaMissense

10492 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:9786661:T:C	F39S	1.000
X:9944831:T:C	L1501P	1.000
X:9786654:T:A	W37R	0.999
X:9786654:T:C	W37R	0.999
X:9786656:G:C	W37C	0.999
X:9786656:G:T	W37C	0.999
X:9786660:T:C	F39L	0.999
X:9786662:C:A	F39L	0.999
X:9786662:C:G	F39L	0.999
X:9786672:G:C	G43R	0.999
X:9786703:T:A	I53N	0.999
X:9873791:T:C	L102P	0.999
X:9873797:T:A	V104D	0.999
X:9939278:T:C	L1408P	0.999
X:9944648:T:C	L1440P	0.999
X:9944834:T:C	L1502P	0.999
X:9944852:G:C	R1508P	0.999
X:9944855:T:C	L1509P	0.999
X:9944861:G:C	R1511P	0.999
X:9946719:G:C	A1545P	0.999
X:9946729:T:C	L1548P	0.999
X:9946741:T:C	L1552P	0.999
X:9946840:T:C	L1585P	0.999
X:9946855:G:C	R1590P	0.999
X:9946861:T:C	L1592P	0.999
X:9946903:T:C	L1606S	0.999
X:9786657:G:C	G38R	0.998
X:9786667:T:C	L41P	0.998
X:9786672:G:T	G43C	0.998
X:9786703:T:C	I53T	0.998

dbSNP variants (sampled 300 via entrez): RS1000004665 (X:9813747 G>A), RS1000008641 (X:9786608 G>C), RS1000027737 (X:9935222 C>T), RS1000033619 (X:9894653 G>A,T), RS1000051176 (X:9792572 G>A), RS1000071771 (X:9914677 G>A,C), RS1000077989 (X:9922571 A>G), RS1000092371 (X:9843502 G>A), RS1000155293 (X:9870630 G>A), RS1000165517 (X:9863813 GAGGAA>G), RS1000169745 (X:9858837 G>A,T), RS1000251414 (X:9888576 T>C), RS1000254705 (X:9797374 C>T), RS1000254925 (X:9912992 G>A), RS1000309664 (X:9880144 A>G)

Disease associations

OMIM: gene MIM:300103 | disease phenotypes: MIM:156000

GenCC curated gene-disease

Mondo (1): Meniere disease (MONDO:0007972)

Orphanet (1): NON RARE IN EUROPE: Menière disease (Orphanet:45360)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001544_3	Colorectal cancer	7.000000e-10
GCST001942_23	Prostate cancer	2.000000e-10

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008575	Meniere Disease	C09.218.568.217.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
dicrotophos	increases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
arsenite	decreases reaction, affects binding	1
afimoxifene	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression, increases reaction	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Caffeine	affects phosphorylation	1
Calcitriol	affects cotreatment, increases expression	1
Estrogens	decreases expression, decreases reaction	1
Lipopolysaccharides	decreases expression, affects cotreatment, increases reaction	1
Methapyrilene	increases methylation	1
Silicon Dioxide	decreases expression	1
Smoke	increases expression	1
Testosterone	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01574313	PHASE4	COMPLETED	Effect of Stellate Ganglion Block on Meniere’s Disease
NCT02529475	PHASE4	TERMINATED	Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS)
NCT04815187	PHASE4	ACTIVE_NOT_RECRUITING	Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease
NCT03664674	PHASE3	COMPLETED	Phase 3 Study of OTO-104 in Subjects With Unilateral Meniere’s Disease
NCT04677972	PHASE3	COMPLETED	SPI-1005 for the Treatment of Meniere’s Disease
NCT05851508	PHASE3	RECRUITING	The Effecttiveness of Intratympanic Methylprednisolon Injections Compared to Placebo in the Treatment of Vertigo Attacks in Meniere’s Disease
NCT05420350	PHASE2	UNKNOWN	Lamotrigine and Bupropion for Meniere’s Disease
NCT06544434	PHASE2	RECRUITING	Laser Acupuncture for Meniere Disease
NCT04674735	PHASE1	WITHDRAWN	Safety of APSLXR in Patients Presenting Vertigo of Vestibular Origin or Meniere’s Disease
NCT04218123	PHASE2/PHASE3	COMPLETED	Assessing the Efficacy of a Serotonin and Norepinephrine Reuptake Inhibitor for Improving Meniere’s Disease Outcomes
NCT04766853	PHASE1/PHASE2	COMPLETED	Verification of the Efficacy/safety of the Intratympanic Drug Delivery for Hearing Loss
NCT04794842	EARLY_PHASE1	UNKNOWN	Comparing Topical Tetracaine Drops to Topical Focal Phenol for Local Anesthesia During Intratympanic Steroid Injection
NCT00599560	Not specified	COMPLETED	Vasopressin and V2 Receptor in Meniere’s Disease
NCT02371798	Not specified	WITHDRAWN	Unilateral Meniere Disease: Can Double Dose Gadolinium and Delayed Imaging Make the Diagnosis?
NCT03520322	Not specified	TERMINATED	A Study of a Mastoid Device in Subjects With Ménière’s Disease
NCT03795675	Not specified	ACTIVE_NOT_RECRUITING	CI Following VS Removal or Labyrinthectomy
NCT04370366	Not specified	RECRUITING	Imaging of Endolymphatic Hydrops at 7T MRI
NCT04569175	Not specified	COMPLETED	Non Enhanced Labyrinth Imaging for the Detection of Endolymphatic Hydrops in Meniere’s Disease NELI Study
NCT04686695	Not specified	COMPLETED	Transcutaneous Auricular Vagus Nerve Stimulation Treatment on Meniere Disease
NCT04835688	Not specified	UNKNOWN	Ventilation Tube Insertion for Unilateral Menière’s Disease
NCT04902963	Not specified	COMPLETED	What is the Tympanic Membrane Healing Time After Insertion of a Gelfoam PE Tube?
NCT04935970	Not specified	UNKNOWN	Metabolic Disorders and Vertigo
NCT05322538	Not specified	NOT_YET_RECRUITING	Menier’s Disease - Bone Density Study
NCT05328895	Not specified	COMPLETED	Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease
NCT05424302	Not specified	RECRUITING	Effect of Peripheral Vestibular Disease Location on Outcomes Following Home-based Virtual Reality Vestibular Therapy
NCT05582148	Not specified	UNKNOWN	Meniere Disease and Hearing Aids
NCT05844657	Not specified	COMPLETED	Comprehensive Evaluation in Patients With Meniere’s Disease
NCT05960786	Not specified	COMPLETED	Treating the Symptoms of Vertigo in a Real-world Setting Using the OtoBand
NCT06278129	Not specified	UNKNOWN	Evaluation of the Diagnostic and Prognostic Efficacy of MRI in Acute Sensorineural Hearing Loss and Ménière’s Disease
NCT06544590	Not specified	COMPLETED	Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease
NCT07272473	Not specified	RECRUITING	Effects of Cervical Mobilization on Dizziness, Balance, and Joint Position Sense in Patients With Meniere’s Disease