DNM3

Summary

DNM3 (dynamin 3, HGNC:29125) is a protein-coding gene on chromosome 1q24.3, encoding Dynamin-3 (Q9UQ16). Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP.

This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 26052 — RefSeq curated summary.

At a glance

• GWAS associations: 170
• Clinical variants (ClinVar): 125 total
• MANE Select transcript: NM_015569

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29125
Approved symbol	DNM3
Name	dynamin 3
Location	1q24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0820
Ensembl gene	ENSG00000197959
Ensembl biotype	protein_coding
OMIM	611445
Entrez	26052

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000355305, ENST00000367731, ENST00000367733, ENST00000485254, ENST00000491124, ENST00000520906, ENST00000523513, ENST00000627582, ENST00000688173

RefSeq mRNA: 6 — MANE Select: NM_015569 NM_001136127, NM_001278252, NM_001350204, NM_001350205, NM_001350206, NM_015569

CCDS: CCDS44276, CCDS53431, CCDS60356, CCDS86032, CCDS91107

Canonical transcript exons

ENST00000627582 — 21 exons

Exon	Start	End
ENSE00000451410	171988945	171989148
ENSE00000789816	172042009	172042144
ENSE00000814582	172032402	172032500
ENSE00000814585	172038319	172038461
ENSE00000958989	172068819	172068905
ENSE00000958990	172081832	172081902
ENSE00000958991	172092824	172092875
ENSE00000958992	172131175	172131288
ENSE00001022158	172308728	172308839
ENSE00001022164	172387133	172387359
ENSE00001022166	172379018	172379182
ENSE00001022169	172388573	172388809
ENSE00001150882	171921748	171921821
ENSE00001191211	171841498	171841817
ENSE00001417069	172407772	172412717
ENSE00001445509	172048612	172048750
ENSE00001445510	172044385	172044452
ENSE00001699546	172253573	172253682
ENSE00001702509	172033105	172033265
ENSE00003612716	171987656	171987805
ENSE00003762578	172323329	172323340

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 98.24.

FANTOM5 (CAGE): breadth broad, TPM avg 13.2339 / max 638.0063, expressed in 833 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6656	7.9986	731
6657	4.4544	397
6663	0.5394	57
6658	0.2224	72
6683	0.0191	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	98.24	gold quality
pons	UBERON:0000988	97.79	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.08	gold quality
corpus callosum	UBERON:0002336	96.96	gold quality
substantia nigra pars compacta	UBERON:0001965	96.85	gold quality
postcentral gyrus	UBERON:0002581	96.78	gold quality
superior vestibular nucleus	UBERON:0007227	96.70	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.54	gold quality
cortical plate	UBERON:0005343	96.53	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.52	gold quality
parietal lobe	UBERON:0001872	96.51	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.32	gold quality
orbitofrontal cortex	UBERON:0004167	96.31	gold quality
medial globus pallidus	UBERON:0002477	95.91	gold quality
medulla oblongata	UBERON:0001896	95.89	gold quality
superior frontal gyrus	UBERON:0002661	95.87	gold quality
globus pallidus	UBERON:0001875	95.75	gold quality
inferior vagus X ganglion	UBERON:0005363	95.73	gold quality
subthalamic nucleus	UBERON:0001906	95.71	gold quality
middle temporal gyrus	UBERON:0002771	95.66	gold quality
inferior olivary complex	UBERON:0002127	95.60	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.40	gold quality
CA1 field of hippocampus	UBERON:0003881	95.35	gold quality
lateral globus pallidus	UBERON:0002476	95.30	gold quality
paraflocculus	UBERON:0005351	94.62	gold quality
entorhinal cortex	UBERON:0002728	94.52	gold quality
ventral tegmental area	UBERON:0002691	94.15	gold quality
adrenal tissue	UBERON:0018303	93.11	gold quality
cerebellum	UBERON:0002037	92.95	gold quality
endothelial cell	CL:0000115	92.65	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-11268	yes	1020.15
E-HCAD-35	yes	94.36
E-HCAD-25	yes	55.03
E-CURD-112	yes	33.16
E-CURD-119	yes	25.52
E-GEOD-93593	yes	16.61
E-HCAD-10	yes	15.93
E-MTAB-9067	yes	11.30
E-ANND-3	yes	7.49

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TWIST1

miRNA regulators (miRDB)

226 targeting DNM3, 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-1252-5P	100.00	69.80	2774
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-7152-3P	99.97	67.47	849

Literature-anchored findings (GeneRIF, showing 18)

• dynamin-3 and the postsynaptic adaptor Homer positions the endocytic zones near the postsynaptic density (PMID:17880892)
• Upon comparison of PBMC and skin samples of Sezary syndrome versus mycosis fungoides, CDO1 and DNM3 were found upregulated only in Sezary syndrome. (PMID:18033314)
• Dynamin 3 participates in the growth and development of megakaryocytes. (PMID:19007685)
• Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients. (PMID:20700106)
• DNM3 not only participates in megakaryocyte progenitor amplification, but is also involved in cytoplasmic enlargement and the formation of the demarcation membrane system. (PMID:21671749)
• Data indicate that dynamin 3 (DNM3) harbors MEIS1 binding sites and is associated with differences in mean platelet volume (MPV). (PMID:22972982)
• Data show that the classical dynamin DNM1 and DNM3 genes reach their maximum expression levels (100% of maximal expression) in all normal central nervous system tissues studied. (PMID:24673776)
• Microdeletion of DNM3 harboring miR199 and miR214 is associated with skeletal abnormalities. (PMID:26333682)
• DNM3 attenuates the proliferation and induces apoptosis of gastric cancer cells. (PMID:26784388)
• DNM3 may be involved in risk of obsessive-compulsive disorder. (PMID:27023174)
• Genetic variability in DNM3 modifies age of onset for LRRK2 Gly2019Ser parkinsonism. (PMID:27692902)
• In glioma, elevated miR-221 expression is a biomarker for glioma. DNM3 is a target of miR-221 and RELA regulates miR-221 expression. (PMID:27837435)
• DNM3 mutation was not associated with age of Parkinson’s disease onset in LRRK2 risk variant carriers and non-carriers in Chinese samples (PMID:30133089)
• There is no evidence of an association between DNM3 variants and age at onset in idiopathic Parkinson’s disease. (PMID:30340792)
• The Expression of Dynamin 1, 2, and 3 in Human Hepatocellular Carcinoma and Patient Prognosis. (PMID:32573516)
• Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease. (PMID:32873436)
• TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma. (PMID:33622874)
• Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors. (PMID:36528667)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dnm3	ENSMUSG00000040265
rattus_norvegicus	Dnm3	ENSRNOG00000026490

Paralogs (6): DNM2 (ENSG00000079805), DNM1L (ENSG00000087470), DNM1 (ENSG00000106976), MX1 (ENSG00000157601), MX2 (ENSG00000183486), OPA1 (ENSG00000198836)

Protein

Protein identifiers

Dynamin-3 — Q9UQ16 (reviewed: Q9UQ16)

Alternative names: Dynamin, testicular, T-dynamin

All UniProt accessions (5): A0A8I5KXV5, E5RHK8, E5RIK2, H0YBC6, Q9UQ16

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9UQ16-1	1	yes
Q9UQ16-2	2
Q9UQ16-3	3
Q9UQ16-4	4
Q9UQ16-5	5

RefSeq proteins (6): NP_001129599, NP_001265181, NP_001337133, NP_001337134, NP_001337135, NP_056384* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000375	Dynamin_stalk	Domain
IPR001401	Dynamin_GTPase	Domain
IPR001849	PH_domain	Domain
IPR003130	GED	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR019762	Dynamin_GTPase_CS	Conserved_site
IPR020850	GED_dom	Domain
IPR022812	Dynamin	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR030381	G_DYNAMIN_dom	Domain
IPR045063	Dynamin_N	Domain

Pfam: PF00169, PF00350, PF01031, PF02212

Enzyme classification (BRENDA):

• EC 3.6.5.5 — dynamin GTPase (BRENDA: 23 organisms, 104 substrates, 250 inhibitors, 42 Km, 26 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GTP	0.0034–2.115	37
ATP	0.2	1

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (49 total): helix 11, strand 8, modified residue 7, region of interest 6, splice variant 4, domain 3, binding site 3, sequence conflict 3, compositionally biased region 2, chain 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3L43	X-RAY DIFFRACTION	2.27
5A3F	X-RAY DIFFRACTION	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UQ16-F1	78.06	0.41

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 (3): 38–46; 205–211; 236–239

Post-translational modifications (7): 231, 299, 603, 604, 769, 773, 853

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade
R-HSA-177504	Retrograde neurotrophin signalling
R-HSA-2132295	MHC class II antigen presentation
R-HSA-437239	Recycling pathway of L1
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 242 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, REACTOME_RETROGRADE_NEUROTROPHIN_SIGNALLING, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, REACTOME_INNATE_IMMUNE_SYSTEM, GGTGTGT_MIR329, GOBP_VESICLE_LOCALIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SYNAPSE_ASSEMBLY, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING

GO Biological Process (4): endocytosis (GO:0006897), synapse assembly (GO:0007416), synaptic vesicle budding from presynaptic endocytic zone membrane (GO:0016185), filopodium assembly (GO:0046847)

GO Molecular Function (7): GTPase activity (GO:0003924), GTP binding (GO:0005525), microtubule binding (GO:0008017), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (10): cytoplasm (GO:0005737), microtubule (GO:0005874), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendritic spine (GO:0043197), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), presynapse (GO:0098793), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Toll-like Receptor Cascades	1
Signaling by NTRK1 (TRKA)	1
Adaptive Immune System	1
L1CAM interactions	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
nervous system development	1
cell junction assembly	1
synapse organization	1
synaptic vesicle endocytosis	1
synaptic vesicle budding	1
plasma membrane bounded cell projection assembly	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
dendrite	1
neuron spine	1
postsynapse	1
cell junction	1
cytoplasm	1
extracellular vesicle	1
synapse	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2615 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNM3	HOMER1	Q86YM7	801
DNM3	HCLS1	P14317	656
DNM3	AMPH	P49418	615
DNM3	PLEK2	Q9NYT0	610
DNM3	PLEK	P08567	610
DNM3	POU2F1	P14859	580
DNM3	CTTN	Q14247	579
DNM3	UXT	Q9UBK9	548
DNM3	FIS1	Q9Y3D6	526
DNM3	DLGAP1	P78335	520
DNM3	GRIA1	P42261	513
DNM3	RAB6A	P20340	497
DNM3	SHANK1	Q9Y566	482
DNM3	PEX11A	O75192	465
DNM3	ARC	Q7LC44	460

IntAct

84 interactions, top by confidence:

A	B	Type	Score
SNX9	SYNJ1	psi-mi:“MI:0914”(association)	0.790
DNM1	DNM2	psi-mi:“MI:0914”(association)	0.740
DNM2	DNM1	psi-mi:“MI:0914”(association)	0.740
GRB2	WIPF3	psi-mi:“MI:0914”(association)	0.730
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
SNX9	WASL	psi-mi:“MI:0914”(association)	0.640
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
LYPD6	PLXNB2	psi-mi:“MI:0914”(association)	0.530
LAMP1	FZD7	psi-mi:“MI:0914”(association)	0.530
TBC1D15	UBXN8	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
FNBP1	DNM3	psi-mi:“MI:0403”(colocalization)	0.500
DNM3	FNBP1	psi-mi:“MI:0915”(physical association)	0.500
DNM3	ABL1	psi-mi:“MI:0915”(physical association)	0.400
FYN	DNM3	psi-mi:“MI:0915”(physical association)	0.400
FKBP5	DNM3	psi-mi:“MI:0915”(physical association)	0.400
MLF2	DNM3	psi-mi:“MI:0915”(physical association)	0.400
DNM3	HSF2	psi-mi:“MI:0915”(physical association)	0.400
DNM3	NUDCD3	psi-mi:“MI:0915”(physical association)	0.400
DNM3	PSMD2	psi-mi:“MI:0915”(physical association)	0.400
	DNM3	psi-mi:“MI:0915”(physical association)	0.400
FKBPL	DNM3	psi-mi:“MI:0915”(physical association)	0.400
DNM3	STUB1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (146): DNM3 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), DNM1 (Affinity Capture-MS), DNM2 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), SNX5 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), KIF2C (Affinity Capture-MS), SNX6 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS), KIF11 (Affinity Capture-MS), SNX1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5P556, A6H7I5, B0DOB5, D3ZGS3, F1M386, F1MSG6, F1PBJ0, G5EGS5, H2KZZ6, O95466, P21575, P23678, P27619, P39052, P39053, P39054, P39055, P48608, P50570, P78344, P79398, Q01968, Q05193, Q08877, Q08DF4, Q15057, Q15172, Q24564, Q2KI89, Q5R629, Q5R7J9, Q5ZK62, Q62448, Q6IVG4, Q6NXC0, Q6ZQK5, Q7SIG6, Q7XPJ0, Q80U19, Q86T65

Diamond homologs: A0MWD1, A1E2I4, A1E2I5, A6H7I5, A7VK00, G0SGC7, O00429, O35303, O60313, P09922, P18588, P18589, P18590, P20591, P20592, P20593, P21575, P27594, P27619, P32266, P33237, P33238, P39052, P39053, P39054, P39055, P42697, P50570, P54861, P58281, P79135, P87320, Q000A9, Q05193, Q08877, Q08DF4, Q28379, Q2KIA5, Q2KTC2, Q3UD61

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
EPH-ephrin mediated repulsion of cells	5	16.1×	3e-03
FCGR3A-mediated phagocytosis	5	13.8×	4e-03
Clathrin-mediated endocytosis	9	11.3×	4e-05
Membrane Trafficking	9	4.9×	7e-03
Vesicle-mediated transport	9	4.6×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
ephrin receptor signaling pathway	5	18.7×	2e-03
endocytosis	9	9.3×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	11
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

6504 predictions. Top by Δscore:

Variant	Effect	Δscore
1:171841814:GCAG:G	donor_gain	1.0000
1:171841818:G:GC	donor_loss	1.0000
1:171841819:T:G	donor_loss	1.0000
1:171921818:GCAG:G	donor_gain	1.0000
1:171987646:A:AG	acceptor_gain	1.0000
1:171987647:T:G	acceptor_gain	1.0000
1:171987651:T:A	acceptor_gain	1.0000
1:171987653:TA:T	acceptor_loss	1.0000
1:171987654:A:AG	acceptor_gain	1.0000
1:171987655:G:GC	acceptor_gain	1.0000
1:171987655:GA:G	acceptor_gain	1.0000
1:171987655:GAA:G	acceptor_gain	1.0000
1:171987655:GAAT:G	acceptor_gain	1.0000
1:171987655:GAATA:G	acceptor_gain	1.0000
1:171987801:ACACG:A	donor_gain	1.0000
1:171987802:CACG:C	donor_gain	1.0000
1:171987803:ACG:A	donor_gain	1.0000
1:171987804:CG:C	donor_gain	1.0000
1:171987805:GG:G	donor_gain	1.0000
1:171987806:G:GG	donor_gain	1.0000
1:171988943:A:AG	acceptor_gain	1.0000
1:171988944:G:GA	acceptor_gain	1.0000
1:171988944:GT:G	acceptor_gain	1.0000
1:171988973:T:TA	acceptor_gain	1.0000
1:172032397:TGCAG:T	acceptor_loss	1.0000
1:172032398:GCA:G	acceptor_loss	1.0000
1:172032399:CA:C	acceptor_loss	1.0000
1:172032400:AGG:A	acceptor_loss	1.0000
1:172032401:GGTCT:G	acceptor_gain	1.0000
1:172032464:G:T	donor_gain	1.0000

AlphaMissense

5702 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:171841760:C:A	A35D	1.000
1:171841768:G:C	G38R	1.000
1:171841769:G:A	G38D	1.000
1:171841783:G:C	G43R	1.000
1:171841784:G:A	G43D	1.000
1:171841787:A:T	K44M	1.000
1:171921792:T:C	L69P	1.000
1:171988969:T:C	L137P	1.000
1:171988974:G:A	G139R	1.000
1:171988974:G:C	G139R	1.000
1:171989080:T:A	V174D	1.000
1:171989109:T:C	S184P	1.000
1:172032417:G:A	G202E	1.000
1:172032420:T:A	V203D	1.000
1:172032428:A:G	K206E	1.000
1:172032429:A:T	K206I	1.000
1:172032430:A:C	K206N	1.000
1:172032430:A:T	K206N	1.000
1:172032438:T:C	L209P	1.000
1:172042052:G:A	G346R	1.000
1:172042052:G:C	G346R	1.000
1:172042052:G:T	G346W	1.000
1:172042053:G:A	G346E	1.000
1:172042083:T:A	L356H	1.000
1:172042091:G:C	G359R	1.000
1:172042091:G:T	G359C	1.000
1:172042092:G:A	G359D	1.000
1:172042095:C:A	A360D	1.000
1:172044419:T:A	I388K	1.000
1:172044419:T:G	I388R	1.000

dbSNP variants (sampled 300 via entrez): RS1000013648 (1:172324808 G>C), RS1000014695 (1:171984619 A>C), RS1000024458 (1:172260052 A>T), RS1000025878 (1:172171387 A>C), RS1000029120 (1:171945612 C>T), RS1000038714 (1:172324162 G>A), RS1000039895 (1:171984402 T>C), RS1000044838 (1:172197672 T>G), RS1000045675 (1:172329715 T>G), RS1000047637 (1:171960273 G>A), RS1000061049 (1:171914927 G>A), RS1000062165 (1:172070677 A>G), RS1000063909 (1:172203693 C>T), RS1000064375 (1:172098514 T>C), RS1000064962 (1:172162412 C>T)

Disease associations

OMIM: gene MIM:611445 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

170 associations (top):

Study	Trait	p-value
GCST000175_25	Height	3.000000e-08
GCST000497_5	Mean platelet volume	2.000000e-14
GCST000817_114	Height	1.000000e-23
GCST000817_26	Height	5.000000e-08
GCST000829_1	Waist-hip ratio	1.000000e-17
GCST001335_6	Mean platelet volume	1.000000e-24
GCST001337_2	Platelet count	2.000000e-12
GCST001956_24	Height	7.000000e-12
GCST002184_2	Mean platelet volume	2.000000e-08
GCST002647_14	Height	4.000000e-33
GCST002688_9	Very long-chain saturated fatty acid levels (fatty acid 22:0)	4.000000e-06
GCST002702_17	Height	2.000000e-10
GCST002782_155	Waist-to-hip ratio adjusted for body mass index	2.000000e-10
GCST002782_156	Waist-to-hip ratio adjusted for body mass index	9.000000e-07
GCST002782_157	Waist-to-hip ratio adjusted for body mass index	4.000000e-15
GCST002782_158	Waist-to-hip ratio adjusted for body mass index	3.000000e-07
GCST002782_159	Waist-to-hip ratio adjusted for body mass index	9.000000e-11
GCST002782_160	Waist-to-hip ratio adjusted for body mass index	1.000000e-15
GCST004031_12	QT interval (sulfonylurea treatment interaction)	4.000000e-07
GCST004064_61	Waist-hip ratio	7.000000e-08
GCST004064_70	Waist-hip ratio	1.000000e-08
GCST004067_170	Hip circumference adjusted for BMI	4.000000e-06
GCST004067_184	Hip circumference adjusted for BMI	2.000000e-10
GCST004067_66	Hip circumference adjusted for BMI	3.000000e-14
GCST004280_43	Diastolic blood pressure	1.000000e-09
GCST004505_35	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	1.000000e-11
GCST004505_36	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	9.000000e-15
GCST004507_22	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	7.000000e-06
GCST004507_7	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	9.000000e-06
GCST004562_193	Waist circumference adjusted for body mass index	2.000000e-10

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004343	waist-hip ratio
EFO:0004309	platelet count
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004682	QT interval
EFO:0007922	response to sulfonylurea
EFO:0008039	BMI-adjusted hip circumference
EFO:0006336	diastolic blood pressure
EFO:0004318	smoking behavior
EFO:0007789	BMI-adjusted waist circumference
EFO:0008002	physical activity measurement
EFO:0004509	hemoglobin measurement
EFO:0007984	platelet component distribution width
EFO:0009270	heel bone mineral density
EFO:0006335	systolic blood pressure
EFO:0007785	femoral neck bone mineral density
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004980	appendicular lean mass
EFO:0004348	hematocrit
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
trichostatin A	affects expression, increases expression	2
(+)-JQ1 compound	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects methylation, affects cotreatment, increases methylation	1
decabromobiphenyl ether	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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