SH3D19

Summary

SH3D19 (SH3 domain containing 19, HGNC:30418) is a protein-coding gene on chromosome 4q31.3, encoding SH3 domain-containing protein 19 (Q5HYK7). May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding.

This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 152503 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 154 total
• MANE Select transcript: NM_001378122

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30418
Approved symbol	SH3D19
Name	SH3 domain containing 19
Location	4q31.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19, Eve-1
Ensembl gene	ENSG00000109686
Ensembl biotype	protein_coding
OMIM	608674
Entrez	152503

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 21 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000409252, ENST00000409598, ENST00000427414, ENST00000462257, ENST00000474743, ENST00000478503, ENST00000508492, ENST00000514013, ENST00000514152, ENST00000604030, ENST00000604440, ENST00000604922, ENST00000652233, ENST00000716599, ENST00000875007, ENST00000875008, ENST00000875009, ENST00000875010, ENST00000875011, ENST00000875012, ENST00000916625, ENST00000916626, ENST00000916627, ENST00000967012, ENST00000967013, ENST00000967014, ENST00000967015

RefSeq mRNA: 14 — MANE Select: NM_001378122 NM_001009555, NM_001128923, NM_001128924, NM_001243349, NM_001378121, NM_001378122, NM_001378123, NM_001378124, NM_001378126, NM_001378127, NM_001378128, NM_001378129, NM_001378130, NM_001378131

CCDS: CCDS34077, CCDS47143, CCDS47144, CCDS93651, CCDS93652

Canonical transcript exons

ENST00000604030 — 20 exons

Exon	Start	End
ENSE00001152545	151165589	151165696
ENSE00001416014	151120281	151122207
ENSE00003470644	151159240	151159352
ENSE00003472639	151139775	151139847
ENSE00003505259	151128170	151128356
ENSE00003523288	151135074	151135132
ENSE00003528167	151137732	151137862
ENSE00003573201	151174670	151175674
ENSE00003584931	151133034	151133236
ENSE00003593513	151132331	151132383
ENSE00003597495	151147922	151148186
ENSE00003607941	151143910	151144050
ENSE00003618129	151127618	151127715
ENSE00003632670	151149500	151149561
ENSE00003655246	151325241	151325605
ENSE00003784043	151187423	151187463
ENSE00003785485	151176534	151176687
ENSE00003786873	151179355	151179397
ENSE00003787130	151176817	151176955
ENSE00003787666	151226047	151226086

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7185 / max 380.2831, expressed in 1452 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
54343	7.5929	839
54350	7.4667	1355
54348	6.9842	835
54351	1.6889	934
54352	0.7251	495
54346	0.3473	183
54345	0.3403	207
54344	0.2996	172
54347	0.1651	71
54341	0.0746	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.96	gold quality
left ventricle myocardium	UBERON:0006566	98.56	gold quality
ileal mucosa	UBERON:0000331	98.48	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.94	gold quality
colonic epithelium	UBERON:0000397	97.47	gold quality
right lung	UBERON:0002167	97.39	gold quality
gall bladder	UBERON:0002110	97.30	gold quality
myocardium	UBERON:0002349	97.18	gold quality
tendon	UBERON:0000043	97.11	gold quality
sural nerve	UBERON:0015488	97.10	gold quality
nerve	UBERON:0001021	97.07	gold quality
tibial nerve	UBERON:0001323	97.07	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.73	gold quality
mucosa of stomach	UBERON:0001199	96.72	gold quality
adipose tissue	UBERON:0001013	96.68	gold quality
jejunal mucosa	UBERON:0000399	96.58	gold quality
heart right ventricle	UBERON:0002080	96.50	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.40	gold quality
amniotic fluid	UBERON:0000173	96.34	gold quality
calcaneal tendon	UBERON:0003701	96.34	gold quality
colonic mucosa	UBERON:0000317	96.33	gold quality
synovial joint	UBERON:0002217	95.86	gold quality
layer of synovial tissue	UBERON:0007616	95.85	gold quality
upper arm skin	UBERON:0004263	95.80	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.77	gold quality
omental fat pad	UBERON:0010414	95.67	gold quality
peritoneum	UBERON:0002358	95.66	gold quality
decidua	UBERON:0002450	95.65	gold quality
rectum	UBERON:0001052	95.63	gold quality
skin of hip	UBERON:0001554	95.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	5652.61
E-MTAB-8205	yes	678.53
E-HCAD-56	yes	550.71
E-MTAB-9543	yes	38.72
E-ANND-3	yes	24.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

174 targeting SH3D19, 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-3646	100.00	73.56	5283
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478

Literature-anchored findings (GeneRIF, showing 3)

• identified and characterized EBP, a novel EEN binding protein that interacts with the SH3 domain of EEN; normally expressed in cytoplasm but recruited to the nucleus by MLL-EEN [EBP] (PMID:14551139)
• yeast two-hybrid screening using the cytoplasmic domain of ADAM12 as bait identified a protein designated Eve-1. Eve-1 plays a role in positively regulating the activity of ADAMs in the signaling of EGFR-ligand shedding. (PMID:15280379)
• occurrence of an unusual TG 3’ splice site in intron 6 (PMID:17672918)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	sh3d19	ENSDARG00000088202
mus_musculus	Sh3d19	ENSMUSG00000028082
rattus_norvegicus	Sh3d19	ENSRNOG00000011752
drosophila_melanogaster	Dlish	FBGN0034264
drosophila_melanogaster	EndoB	FBGN0034433
caenorhabditis_elegans		WBGENE00001335
caenorhabditis_elegans		WBGENE00012891
caenorhabditis_elegans		WBGENE00015128

Paralogs (12): SORBS1 (ENSG00000095637), SH3GLB1 (ENSG00000097033), NCF4 (ENSG00000100365), SH3GL2 (ENSG00000107295), SORBS3 (ENSG00000120896), SH3GL3 (ENSG00000140600), SH3GL1 (ENSG00000141985), SH3GLB2 (ENSG00000148341), SH3RF1 (ENSG00000154447), SORBS2 (ENSG00000154556), SH3RF2 (ENSG00000156463), SH3RF3 (ENSG00000172985)

Protein

Protein identifiers

SH3 domain-containing protein 19 — Q5HYK7 (reviewed: Q5HYK7)

Alternative names: ADAM-binding protein Eve-1, EEN-binding protein

All UniProt accessions (4): Q5HYK7, A0A0U1RQE4, A0A0U1RQN2, A0A494C1M0

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization.

Subunit / interactions. Interacts with ADAM12. Isoform 4 and isoform 5 (but not isoform 1 and isoform 2) interact with ADAM9, ADAM10, ADAM15 and ADAM17. Interacts with SH3GL1 SH3 domain. Interacts via SH3 3 and SH3 4 or SH3 4 and SH3 5 domains with SOS2. Probably forms a trimeric complex with SH3GL1 and SOS2. Interacts with SH3YL1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed with highest levels in heart, skeletal muscle, kidney, liver, placenta, small intestine and lung. Expressed at low levels in colon, thymus, spleen and leukocytes.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5HYK7-1	1, Eve-1a	yes
Q5HYK7-2	2, Eve-1b
Q5HYK7-3	3
Q5HYK7-4	4, Eve-1c
Q5HYK7-5	5, Eve-1d

RefSeq proteins (14): NP_001009555, NP_001122395, NP_001122396, NP_001230278, NP_001365050, NP_001365051, NP_001365052, NP_001365053, NP_001365055, NP_001365056, NP_001365057, NP_001365058, NP_001365059, NP_001365060 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR035834	Eve1_SH3_1	Domain
IPR035835	Eve1_SH3_3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR050384	Endophilin_SH3RF	Family

Pfam: PF00018, PF07653, PF14604

UniProt features (21 total): domain 5, compositionally biased region 3, modified residue 3, splice variant 3, sequence conflict 3, region of interest 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5HYK7-F1	59.09	0.10

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 (3): 65, 369, 762

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 739 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, JI_RESPONSE_TO_FSH_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MODULE_162, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MORF_UBE2I, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_CDK2, LUCAS_HNF4A_TARGETS_UP, REACTOME_MEMBRANE_TRAFFICKING, GGGTGGRR_PAX4_03, ATGTTAA_MIR302C, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (3): cytoskeleton organization (GO:0007010), regulation of cell morphogenesis (GO:0022604), positive regulation of membrane protein ectodomain proteolysis (GO:0051044)

GO Molecular Function (2): proline-rich region binding (GO:0070064), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
organelle organization	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
membrane protein ectodomain proteolysis	1
positive regulation of protein catabolic process	1
positive regulation of proteolysis	1
regulation of membrane protein ectodomain proteolysis	1
protein binding	1
binding	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

724 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH3D19	ZNF687	Q8N1G0	745
SH3D19	YTHDF2	Q9Y5A9	666
SH3D19	PRSS48	Q7RTY5	664
SH3D19	SPRED3	Q2MJR0	575
SH3D19	HMGB2	P26583	548
SH3D19	CBFA2T3	O75081	527
SH3D19	RUNX1	Q01196	527
SH3D19	ZFPM2	Q8WW38	518
SH3D19	MECOM	Q03112	494
SH3D19	ADAM17	P78536	494
SH3D19	CBFB	Q13951	491
SH3D19	NRDC	O43847	482
SH3D19	RUNX1T1	Q06455	446
SH3D19	MYH11	P35749	425
SH3D19	UBASH3B	Q8TF42	405

IntAct

46 interactions, top by confidence:

A	B	Type	Score
DNM2	DNM1	psi-mi:“MI:0914”(association)	0.740
SH3D19	SH3YL1	psi-mi:“MI:0915”(physical association)	0.670
SH3YL1	SH3D19	psi-mi:“MI:0915”(physical association)	0.670
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
SH3KBP1	USP27X	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
ADAM12	SH3D19	psi-mi:“MI:0915”(physical association)	0.560
SH3D19	ADAM12	psi-mi:“MI:0403”(colocalization)	0.560
SH3D19	ADAM12	psi-mi:“MI:0915”(physical association)	0.560
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SH3YL1	PIK3C2B	psi-mi:“MI:0914”(association)	0.530
ADAM10	SH3D19	psi-mi:“MI:0407”(direct interaction)	0.440
CLTC	SH3D19	psi-mi:“MI:0407”(direct interaction)	0.440
Cd2ap		psi-mi:“MI:0915”(physical association)	0.400
Cd2ap		psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
CLTA	CLTB	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
WWP2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
DNM2	ACTA1	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
NPHP1	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (83): SH3D19 (Two-hybrid), SH3D19 (Proximity Label-MS), SH3D19 (Affinity Capture-MS), SH3D19 (Affinity Capture-MS), SH3D19 (Proximity Label-MS), SH3D19 (Affinity Capture-MS), SH3D19 (Affinity Capture-MS), SH3D19 (Affinity Capture-RNA), SH3D19 (Two-hybrid), SH3YL1 (Reconstituted Complex), SH3D19 (Two-hybrid), SH3RF1 (Two-hybrid), SH3D19 (Proximity Label-MS), SH3D19 (Proximity Label-MS), SH3D19 (Proximity Label-MS)

ESM2 similar proteins: A5D7K1, A5H447, B5DEH0, D3ZEN0, D3ZIE4, D3ZQL6, E1B7L7, E1BBG2, G5E5X0, O15117, O35601, O75112, P49023, Q03173, Q04584, Q0VA45, Q15942, Q3TN34, Q3ULZ2, Q4G0F8, Q5F464, Q5HYK7, Q5R7I1, Q5T0Z8, Q5XI07, Q62523, Q64GL0, Q68CZ2, Q6NZJ6, Q6ZU65, Q80WC1, Q80XI3, Q8BFW7, Q8BGT6, Q8CC35, Q8CI51, Q8IY33, Q8N3F8, Q8VI36, Q8WX93

Diamond homologs: A1CEK6, A1DFN5, A1DFP5, A2QW93, A2QWA2, A3LXQ8, A4FU49, A4RF61, A6QLK6, B0BNA1, F4KAU9, O08641, O14964, O35179, O35180, O35413, O35964, O43125, O74749, O80910, O94875, P07751, P0CR78, P0CR79, P10569, P19878, P29355, P38753, P62993, P62994, P87379, Q06449, Q07883, Q08012, Q0CJU8, Q0CJV3, Q0U4Z8, Q0U6X7, Q0V8S0, Q15080

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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	148.0×	2e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	130.6×	4e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	130.6×	4e-12
Activation of BH3-only proteins	7	96.5×	4e-11
RHO GTPases activate PKNs	7	61.7×	1e-09
Intrinsic Pathway for Apoptosis	7	56.9×	2e-09
FOXO-mediated transcription	5	46.6×	1e-06
Signaling by EGFR	5	45.3×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	45.8×	2e-05
intracellular protein localization	8	20.9×	2e-06
endocytosis	5	11.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	113
Likely benign	13
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

5569 predictions. Top by Δscore:

Variant	Effect	Δscore
4:151102867:CCA:C	acceptor_loss	1.0000
4:151102868:CAGA:C	acceptor_gain	1.0000
4:151102868:CAGAC:C	acceptor_loss	1.0000
4:151102869:A:AG	acceptor_gain	1.0000
4:151102869:A:T	acceptor_loss	1.0000
4:151102870:G:GG	acceptor_gain	1.0000
4:151102870:GA:G	acceptor_gain	1.0000
4:151102870:GAC:G	acceptor_gain	1.0000
4:151102870:GACA:G	acceptor_gain	1.0000
4:151102870:GACAA:G	acceptor_gain	1.0000
4:151102873:AAT:A	acceptor_gain	1.0000
4:151103063:G:GT	donor_gain	1.0000
4:151103075:AAATT:A	donor_gain	1.0000
4:151103076:AATT:A	donor_gain	1.0000
4:151103077:ATT:A	donor_gain	1.0000
4:151103078:TT:T	donor_gain	1.0000
4:151103078:TTG:T	donor_loss	1.0000
4:151103080:G:GC	donor_loss	1.0000
4:151103080:G:GG	donor_gain	1.0000
4:151103081:T:TG	donor_loss	1.0000
4:151103082:AAGT:A	donor_loss	1.0000
4:151104470:A:AG	acceptor_gain	1.0000
4:151104470:AGTG:A	acceptor_gain	1.0000
4:151104471:G:GG	acceptor_gain	1.0000
4:151104471:GTGG:G	acceptor_gain	1.0000
4:151122203:CCAGC:C	acceptor_gain	1.0000
4:151122204:CAGC:C	acceptor_gain	1.0000
4:151122204:CAGCC:C	acceptor_gain	1.0000
4:151122205:AGCCT:A	acceptor_loss	1.0000
4:151122206:GC:G	acceptor_gain	1.0000

AlphaMissense

6783 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:151133130:A:G	W608R	0.997
4:151133130:A:T	W608R	0.997
4:151128312:A:C	F672L	0.996
4:151128312:A:T	F672L	0.996
4:151128314:A:G	F672L	0.996
4:151133128:C:A	W608C	0.996
4:151133128:C:G	W608C	0.996
4:151128265:A:G	I688T	0.995
4:151127628:A:G	L749P	0.994
4:151127651:G:C	F741L	0.994
4:151127651:G:T	F741L	0.994
4:151127653:A:G	F741L	0.994
4:151128283:A:G	F682S	0.994
4:151128289:A:G	L680S	0.994
4:151137823:A:T	V522D	0.994
4:151127622:A:G	F751S	0.993
4:151128265:A:C	I688S	0.993
4:151137742:A:T	V549D	0.993
4:151122165:A:G	W767R	0.992
4:151122165:A:T	W767R	0.992
4:151128186:A:C	F714L	0.992
4:151128186:A:T	F714L	0.992
4:151128188:A:G	F714L	0.992
4:151128199:A:G	F710S	0.992
4:151137757:A:G	F544S	0.992
4:151122155:C:T	G770E	0.991
4:151127664:G:T	A737D	0.991
4:151128226:C:T	G701D	0.991
4:151137794:A:G	W532R	0.991
4:151137794:A:T	W532R	0.991

dbSNP variants (sampled 300 via entrez): RS1000005898 (4:151266095 T>C), RS1000006393 (4:151170723 G>T), RS1000011036 (4:151172159 C>G), RS1000024237 (4:151313168 G>A), RS1000026845 (4:151202740 A>G), RS1000033835 (4:151294973 G>A), RS10000557 (4:151172813 A>G), RS1000065426 (4:151248028 C>A,G), RS1000079389 (4:151128972 T>G), RS1000081064 (4:151311601 G>A), RS1000083652 (4:151149373 T>G), RS10001039 (4:151180370 G>A,T), RS1000111475 (4:151280450 A>G), RS1000122723 (4:151229872 G>A,T), RS1000137564 (4:151280396 A>C)

Disease associations

OMIM: gene MIM:608674 | disease phenotypes: MIM:190300

GenCC curated gene-disease

Mondo (1): essential tremor (MONDO:0003233)

Orphanet (1): NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350

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
Benzo(a)pyrene	decreases expression, decreases methylation	4
bisphenol A	increases expression, affects cotreatment	2
trichostatin A	affects cotreatment, decreases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Tetrachlorodibenzodioxin	decreases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
bisphenol F	increases expression	1
arsenite	affects binding, decreases reaction	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	decreases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
bromovanin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	increases methylation	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, affects expression	1
Carbamazepine	affects expression	1
Coumestrol	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2K2	HAP1 SH3D19 (-) 1	Cancer cell line	Male
CVCL_E2K3	HAP1 SH3D19 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00439699	PHASE4	COMPLETED	A Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376	PHASE4	COMPLETED	Pregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369	PHASE4	COMPLETED	Propranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883	PHASE4	COMPLETED	Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00018564	PHASE3	COMPLETED	Novel Therapies for Essential Tremor
NCT00236496	PHASE3	COMPLETED	A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284	PHASE3	WITHDRAWN	Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527	PHASE3	COMPLETED	A Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209	PHASE3	COMPLETED	[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276	PHASE3	ENROLLING_BY_INVITATION	Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00080366	PHASE2	COMPLETED	Octanol to Treat Essential Tremor
NCT00102596	PHASE2	COMPLETED	Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor
NCT00223743	PHASE2	COMPLETED	A Safety/Efficacy Trial of Zonisamide for Essential Tremor
NCT00321087	PHASE2	TERMINATED	A Study of T2000 in Essential Tremor
NCT00598078	PHASE2	COMPLETED	Multiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor
NCT00655278	PHASE2	TERMINATED	T2000 in Essential Tremor - Open Label Continuation
NCT01332695	PHASE2	COMPLETED	A Pilot Efficacy and Safety Study of ST101 in Essential Tremor
NCT02277106	PHASE2	COMPLETED	Evaluate SAGE-547 in Participants With Essential Tremor
NCT02551848	PHASE2	UNKNOWN	Kinematic-based BoNT-A Injections for Bilateral ET
NCT02668146	PHASE2	UNKNOWN	An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor
NCT02978781	PHASE2	COMPLETED	A Study to Evaluate SAGE-217 in Participants With Essential Tremor
NCT03101241	PHASE2	COMPLETED	A Phase 2 RCT Study of CX-8998 for Essential Tremor
NCT03688685	PHASE2	COMPLETED	A Clinical Study to Evaluate CAD-1883 in Essential Tremor
NCT03780426	PHASE2	COMPLETED	tSMS in Essential Tremor
NCT04305275	PHASE2	COMPLETED	A Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor
NCT04727658	PHASE2	TERMINATED	Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL)
NCT04880616	PHASE2	COMPLETED	Safety, Efficacy, and Tolerability of NBI-827104 for the Treatment of Essential Tremor
NCT05021978	PHASE2	COMPLETED	A Clinical Trial of PRAX-944 in Participants With Essential Tremor
NCT05021991	PHASE2	COMPLETED	A Clinical Trial of 2 Doses of PRAX-944 in Participants With Essential Tremor
NCT05122650	PHASE2	COMPLETED	A Study To Assess the Safety and Efficacy of JZP385 in the Treatment of Adults With Moderate to Severe Essential Tremor (ET)
NCT05173012	PHASE2	COMPLETED	Study to Evaluate SAGE-324 in Participants With Essential Tremor
NCT05387642	PHASE2	WITHDRAWN	A Clinical Trial of PRAX-114 in Participants With Essential Tremor
NCT06312800	PHASE2	WITHDRAWN	Acamprosate and Methazolamide for Essential Tremor
NCT06821906	PHASE2	RECRUITING	Stereotactic Radiosurgery in the Treatment of Essential Tremor
NCT07074002	PHASE2	RECRUITING	Proof of Concept Study on BP1.4979 Effect on Essential Tremor
NCT07103265	PHASE2	NOT_YET_RECRUITING	Developing a New LIFU Neuromodulation Method to Suppress Tremor
NCT00001986	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT00016679	PHASE1	COMPLETED	1-Octanol to Treat Essential Tremor
NCT01304758	PHASE1	COMPLETED	ExAblate Transcranial MR Guided Focused Ultrasound in the Treatment of Essential Tremor