MYO5C

Summary

MYO5C (myosin VC, HGNC:7604) is a protein-coding gene on chromosome 15q21.2, encoding Unconventional myosin-Vc (Q9NQX4). May be involved in transferrin trafficking.

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization. Located in extracellular exosome.

Source: NCBI Gene 55930 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 265 total
• MANE Select transcript: NM_018728

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7604
Approved symbol	MYO5C
Name	myosin VC
Location	15q21.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC74969
Ensembl gene	ENSG00000128833
Ensembl biotype	protein_coding
OMIM	610022
Entrez	55930

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000261839, ENST00000541028, ENST00000558242, ENST00000558479, ENST00000558902, ENST00000559434, ENST00000559459, ENST00000559696, ENST00000560809, ENST00000930074, ENST00000930075, ENST00000930076, ENST00000965934

RefSeq mRNA: 1 — MANE Select: NM_018728 NM_018728

CCDS: CCDS42036

Canonical transcript exons

ENST00000261839 — 41 exons

Exon	Start	End
ENSE00001614964	52213188	52213286
ENSE00001675912	52192322	52194054
ENSE00001711401	52260862	52261127
ENSE00001758197	52242048	52242213
ENSE00002566073	52295610	52295804
ENSE00003472732	52264190	52264296
ENSE00003481342	52229133	52229313
ENSE00003489875	52247458	52247592
ENSE00003496667	52275562	52275718
ENSE00003496986	52225439	52225532
ENSE00003506918	52269753	52269860
ENSE00003513356	52245354	52245465
ENSE00003513571	52208554	52208643
ENSE00003519260	52214603	52214690
ENSE00003529061	52235670	52235763
ENSE00003534756	52245956	52246042
ENSE00003537080	52225075	52225138
ENSE00003538046	52205816	52205966
ENSE00003540432	52239733	52239879
ENSE00003543067	52211730	52211884
ENSE00003546003	52218519	52218687
ENSE00003546066	52232622	52232685
ENSE00003557003	52256639	52256720
ENSE00003570810	52253317	52253457
ENSE00003574390	52224901	52224981
ENSE00003582143	52219759	52219822
ENSE00003601659	52196309	52196483
ENSE00003611563	52248700	52248783
ENSE00003617522	52204865	52205147
ENSE00003618176	52195377	52195457
ENSE00003626375	52251390	52251515
ENSE00003631722	52244356	52244567
ENSE00003653146	52246917	52247014
ENSE00003658757	52237482	52237646
ENSE00003661381	52279509	52279674
ENSE00003664073	52278873	52279017
ENSE00003670912	52271763	52271844
ENSE00003674612	52223544	52223724
ENSE00003689700	52221162	52221255
ENSE00003690109	52282782	52282892
ENSE00003691898	52272580	52272723

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 97.11.

FANTOM5 (CAGE): breadth broad, TPM avg 3.3703 / max 96.4664, expressed in 703 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149987	3.3501	695
149986	0.0202	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	97.11	gold quality
parotid gland	UBERON:0001831	96.81	gold quality
epithelium of bronchus	UBERON:0002031	96.57	gold quality
bronchus	UBERON:0002185	96.36	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.18	gold quality
colonic mucosa	UBERON:0000317	95.48	gold quality
corpus epididymis	UBERON:0004359	94.87	gold quality
visceral pleura	UBERON:0002401	94.49	gold quality
palpebral conjunctiva	UBERON:0001812	94.43	gold quality
caput epididymis	UBERON:0004358	92.63	gold quality
eye	UBERON:0000970	92.11	gold quality
pleura	UBERON:0000977	92.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.04	gold quality
body of pancreas	UBERON:0001150	91.20	gold quality
parietal pleura	UBERON:0002400	90.50	gold quality
lower lobe of lung	UBERON:0008949	90.20	gold quality
epithelium of nasopharynx	UBERON:0001951	90.16	gold quality
trachea	UBERON:0003126	89.68	gold quality
right uterine tube	UBERON:0001302	89.55	gold quality
choroid plexus epithelium	UBERON:0003911	89.46	gold quality
epithelium of mammary gland	UBERON:0003244	89.05	gold quality
thoracic mammary gland	UBERON:0005200	89.00	gold quality
mammary gland	UBERON:0001911	88.93	gold quality
rectum	UBERON:0001052	88.70	gold quality
pancreatic ductal cell	CL:0002079	88.69	silver quality
mammary duct	UBERON:0001765	88.65	gold quality
skin of hip	UBERON:0001554	88.53	gold quality
esophagus squamous epithelium	UBERON:0006920	88.26	gold quality
thyroid gland	UBERON:0002046	88.23	gold quality
nasal cavity mucosa	UBERON:0001826	88.08	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	18.72
E-GEOD-93593	yes	3.94
E-CURD-10	no	311.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

97 targeting MYO5C, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-7162-3P	99.89	68.16	1682

Literature-anchored findings (GeneRIF, showing 14)

• myosin Vc is a low duty ratio nonprocessive motor (PMID:18079121)
• Kinetic simulations reveal that the high ADP affinity of actomyosin Vc may lead to elevations of the duty ratio of myosin Vc to as high as 64% under possible physiological ADP concentrations (PMID:18201966)
• related Rab protein, Rab10, can interact with myosin Va, myosin Vb, and myosin Vc (PMID:19008234)
• These data suggest that Myo5c associated with Rab8 is involved in the release of dengue virus 2 from HepG2 cells. (PMID:19641326)
• These results provide the first live-cell imaging of Myo5c and indicate that Myo5c functions in secretory granule trafficking. (PMID:19741097)
• the cargo-binding domain (CBD) structures of the three human MyoV paralogs (Va, Vb, and Vc), revealing subtle structural changes that drive functional differentiation and a novel redox mechanism controlling the CBD dimerization process (PMID:24097982)
• Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c. (PMID:24339992)
• Rab38 and its close homolog Rab32 bind to Myosin Vc but not to Myosin Va or Myosin Vb. Binding depends on residues in the switch II region of Rab32 and Rab38 and regions of the Myosin Vc coiled-coil tail domain. (PMID:25324551)
• Myo5c-globular tail domain and Myo5a-globular tail domain are not interchangeable in terms of inhibiting the motor function. (PMID:26912658)
• The myosin V structure reveals the detailed rearrangements underlying myosin force generation as well as the basis of strain-dependent ADP release that is essential for processive myosins, such as myosin V. (PMID:26976594)
• MyoVc is unique in taking variable size steps, which are frequently in the backward direction. Results obtained with chimeric constructs implicate the lever arm/rod of MyoVc as being responsible for these properties. Actin bundles allow single MyoVc motors to move processively. (PMID:27498562)
• Unveiling the interaction between the molecular motor Myosin Vc and the small GTPase Rab3A. (PMID:31698103)
• Pendred Syndrome, or Not Pendred Syndrome? That Is the Question. (PMID:34680964)
• Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells. (PMID:35084586)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo5c	ENSDARG00000104235
mus_musculus	Myo5c	ENSMUSG00000033590
rattus_norvegicus	Myo5c	ENSRNOG00000008356

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Vc — Q9NQX4 (reviewed: Q9NQX4)

All UniProt accessions (4): Q9NQX4, H0YM93, H0YM96, H0YMK3

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.

Tissue specificity. Expressed chiefly in non-neuronal tissues. Particularly abundant in epithelial and glandular tissues including pancreas, prostate, mammary, stomach, colon and lung.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQX4-1	1	yes
Q9NQX4-2	2

RefSeq proteins (1): NP_061198* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002710	Dilute_dom	Domain
IPR004009	SH3_Myosin	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036103	MYSc_Myo5	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR037991	Myo5c_CBD	Domain

Pfam: PF00063, PF00612, PF01843

UniProt features (102 total): helix 48, strand 23, turn 10, domain 8, sequence variant 5, splice variant 2, initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1, binding site 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4ZG4	X-RAY DIFFRACTION	2.36
5HMP	X-RAY DIFFRACTION	2.4
4L8T	X-RAY DIFFRACTION	2.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQX4-F1	76.39	0.17

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 (1): 161–168

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): GOBP_VESICLE_LOCALIZATION, YANG_BREAST_CANCER_ESR1_BULK_UP, MODULE_493, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, ONDER_CDH1_TARGETS_3_DN, PATIL_LIVER_CANCER, GOBP_VESICLE_CYTOSKELETAL_TRAFFICKING, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, AIYAR_COBRA1_TARGETS_DN, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP

GO Biological Process (3): endocytosis (GO:0006897), actin filament organization (GO:0007015), vesicle transport along actin filament (GO:0030050)

GO Molecular Function (8): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), extracellular exosome (GO:0070062), Schaffer collateral - CA1 synapse (GO:0098685)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
actin filament-based movement	1
actin filament-based transport	1
vesicle cytoskeletal trafficking	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
actin cytoskeleton	1
protein-containing complex	1
extracellular vesicle	1
synapse	1

Protein interactions and networks

STRING

2988 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO5C	RAB8A	P24407	848
MYO5C	RET	P07949	588
MYO5C	TFRC	P02786	578
MYO5C	RUFY2	Q8WXA3	573
MYO5C	ZCCHC8	Q6NZY4	557
MYO5C	MARCKS	P29966	539
MYO5C	RAB10	P61026	530
MYO5C	TPM3	P06753	526
MYO5C	GOPC	Q9HD26	510
MYO5C	RAB11A	P24410	503
MYO5C	FRMD4A	Q9P2Q2	477
MYO5C	GNB5	O14775	475
MYO5C	LRIG3	Q6UXM1	471
MYO5C	SLC34A2	O95436	460
MYO5C	CEP72	Q9P209	454

IntAct

120 interactions, top by confidence:

A	B	Type	Score
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
DKK3	NME4	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
MOAP1	PNMA8A	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
MYO5C	CHCHD3	psi-mi:“MI:0915”(physical association)	0.400
MYO5C	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
MYO5C	TUFM	psi-mi:“MI:0915”(physical association)	0.400
MYO5C	NONO	psi-mi:“MI:0915”(physical association)	0.400
MYO5C	IKBKG	psi-mi:“MI:0915”(physical association)	0.370
MYO5C	POT1	psi-mi:“MI:0915”(physical association)	0.370
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350

BioGRID (234): MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Affinity Capture-MS), MYO5C (Co-fractionation), MYO5C (Co-fractionation), ACTG1 (Affinity Capture-MS), ACTN4 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), CAPZA1 (Affinity Capture-MS), CAPZA2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JTR4, A0MQH0, A2RSQ0, A4II46, A6QNS3, A6QQZ7, B2RTY4, E7EZG2, E7F3F0, E9PTA2, F4I507, O43795, O54865, O94759, P09851, P20936, P24786, P34947, P42694, P46735, P50904, Q02440, Q05096, Q09LZ8, Q12979, Q13459, Q16288, Q49A26, Q4ZHR9, Q5R7T2, Q5SSL4, Q5T2T1, Q5XIS9, Q5ZLX4, Q63358, Q6DFV5, Q6TUI4, Q6ZUT9, Q8BZ03, Q8C170

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 135 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.

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	8	8.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	214
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

6624 predictions. Top by Δscore:

Variant	Effect	Δscore
15:52195458:C:CC	acceptor_gain	1.0000
15:52205148:C:CC	acceptor_gain	1.0000
15:52214597:TCTTA:T	donor_loss	1.0000
15:52214598:CTTA:C	donor_loss	1.0000
15:52214599:TTACC:T	donor_loss	1.0000
15:52214600:TACC:T	donor_loss	1.0000
15:52214601:A:AC	donor_gain	1.0000
15:52214601:AC:A	donor_gain	1.0000
15:52214601:ACC:A	donor_loss	1.0000
15:52214602:C:CA	donor_gain	1.0000
15:52214602:CC:C	donor_gain	1.0000
15:52214602:CCT:C	donor_gain	1.0000
15:52214602:CCTT:C	donor_gain	1.0000
15:52214602:CCTTT:C	donor_gain	1.0000
15:52214686:AGATC:A	acceptor_gain	1.0000
15:52214687:GATC:G	acceptor_gain	1.0000
15:52214688:ATC:A	acceptor_gain	1.0000
15:52214689:TC:T	acceptor_gain	1.0000
15:52214690:CC:C	acceptor_gain	1.0000
15:52214691:C:A	acceptor_loss	1.0000
15:52214691:C:CC	acceptor_gain	1.0000
15:52214695:A:T	acceptor_gain	1.0000
15:52214697:CAA:C	acceptor_gain	1.0000
15:52214698:A:T	acceptor_gain	1.0000
15:52214699:A:AC	acceptor_gain	1.0000
15:52214699:A:C	acceptor_gain	1.0000
15:52218517:AC:A	donor_gain	1.0000
15:52218518:CC:C	donor_gain	1.0000
15:52218547:T:TA	donor_gain	1.0000
15:52218683:AGGCC:A	acceptor_gain	1.0000

AlphaMissense

11663 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:52204878:C:A	G1603W	0.999
15:52204878:C:G	G1603R	0.999
15:52204878:C:T	G1603R	0.999
15:52246013:A:G	L670P	0.999
15:52279553:A:G	L87P	0.999
15:52195444:A:G	L1670P	0.998
15:52196382:A:G	L1641P	0.998
15:52244545:C:T	G734D	0.998
15:52246956:A:T	V647D	0.998
15:52253409:A:G	W482R	0.998
15:52253409:A:T	W482R	0.998
15:52256658:A:G	L459P	0.998
15:52204877:C:T	G1603E	0.997
15:52204904:C:G	R1594P	0.997
15:52244545:C:A	G734V	0.997
15:52245439:C:G	R698P	0.997
15:52246010:C:G	R671P	0.997
15:52246949:G:C	C649W	0.997
15:52260871:T:G	D435A	0.997
15:52275688:A:C	S160R	0.997
15:52275688:A:T	S160R	0.997
15:52275690:T:G	S160R	0.997
15:52282880:A:G	W14R	0.997
15:52282880:A:T	W14R	0.997
15:52196391:G:T	A1638D	0.996
15:52196458:A:G	W1616R	0.996
15:52196458:A:T	W1616R	0.996
15:52244491:C:G	R752P	0.996
15:52246951:A:G	C649R	0.996
15:52256717:A:C	F439L	0.996

dbSNP variants (sampled 300 via entrez): RS1000002361 (15:52236545 G>A), RS1000090425 (15:52260784 C>T), RS1000128970 (15:52286021 T>C), RS1000157347 (15:52259435 A>G), RS1000184401 (15:52202249 T>C), RS1000290780 (15:52254838 G>A), RS1000300342 (15:52253162 G>A), RS1000309494 (15:52293842 G>A), RS1000344528 (15:52242309 G>A,C), RS1000378213 (15:52259158 C>T), RS1000399841 (15:52222578 G>A), RS1000425090 (15:52218911 C>G,T), RS1000464091 (15:52216327 G>T), RS1000523833 (15:52240657 G>A,C), RS1000540876 (15:52222967 T>C,G)

Disease associations

OMIM: gene MIM:610022 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002726_58	Glucose homeostasis traits	6.000000e-06
GCST008156_68	Hip circumference adjusted for BMI	5.000000e-06
GCST010118_104	Type 2 diabetes	2.000000e-09
GCST011426_33	Systemic lupus erythematosus	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006833	glucose effectiveness measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation	5
Valproic Acid	affects cotreatment, increases expression, affects expression	5
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
Tobacco Smoke Pollution	decreases expression, decreases methylation	3
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
sotorasib	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
deoxynivalenol	decreases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
nickel sulfate	decreases expression	1
cupric oxide	decreases expression	1
dinophysistoxin 1	decreases expression	1
CGP 52608	affects binding, increases reaction	1
3-nitrobenzanthrone	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
trametinib	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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