VPS8

Summary

VPS8 (VPS8 subunit of CORVET complex, HGNC:29122) is a protein-coding gene on chromosome 3q27.2, encoding Vacuolar protein sorting-associated protein 8 homolog (Q8N3P4). Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway.

Predicted to enable zinc ion binding activity. Involved in endosomal vesicle fusion. Located in early endosome.

Source: NCBI Gene 23355 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arthrogryposis multiplex congenita (Limited, ClinGen)
• GWAS associations: 5
• Clinical variants (ClinVar): 264 total
• MANE Select transcript: NM_001009921

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29122
Approved symbol	VPS8
Name	VPS8 subunit of CORVET complex
Location	3q27.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32099
Ensembl gene	ENSG00000156931
Ensembl biotype	protein_coding
OMIM	618366
Entrez	23355

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 27 protein_coding, 8 retained_intron, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000287546, ENST00000421069, ENST00000422105, ENST00000424463, ENST00000424721, ENST00000426319, ENST00000436792, ENST00000441141, ENST00000445089, ENST00000446204, ENST00000452140, ENST00000452666, ENST00000453056, ENST00000458721, ENST00000460158, ENST00000463687, ENST00000465213, ENST00000465818, ENST00000469479, ENST00000469713, ENST00000471655, ENST00000475580, ENST00000485024, ENST00000488255, ENST00000492449, ENST00000495190, ENST00000625842, ENST00000875104, ENST00000875105, ENST00000875106, ENST00000929935, ENST00000929936, ENST00000929937, ENST00000929938, ENST00000929939, ENST00000929940, ENST00000955459, ENST00000955460, ENST00000955461, ENST00000955462, ENST00000955463, ENST00000955464, ENST00000955465, ENST00000955466

RefSeq mRNA: 9 — MANE Select: NM_001009921 NM_001009921, NM_001349292, NM_001349293, NM_001349294, NM_001349295, NM_001349296, NM_001349297, NM_001349298, NM_015303

CCDS: CCDS46971, CCDS46972

Canonical transcript exons

ENST00000625842 — 48 exons

Exon	Start	End
ENSE00001491382	184824545	184824785
ENSE00001935198	185051876	185052604
ENSE00002143812	184870716	184870805
ENSE00002155570	184868946	184869036
ENSE00002166846	184855711	184855818
ENSE00002188800	184868024	184868059
ENSE00002197443	184869482	184869528
ENSE00003462592	184913519	184913561
ENSE00003482845	184924862	184924981
ENSE00003493857	184930470	184930568
ENSE00003502135	184849936	184850022
ENSE00003502618	184832689	184832819
ENSE00003503165	184862897	184863067
ENSE00003503824	184993983	184994063
ENSE00003516017	184936246	184936335
ENSE00003522505	184853857	184854010
ENSE00003526546	184914981	184915053
ENSE00003527917	184920127	184920198
ENSE00003538529	184964468	184964557
ENSE00003550416	185024336	185024389
ENSE00003554509	184894703	184894925
ENSE00003558221	184940197	184940243
ENSE00003571445	184983012	184983094
ENSE00003572907	184966671	184966713
ENSE00003576568	184886110	184886156
ENSE00003588480	184839698	184839752
ENSE00003589219	184915355	184915474
ENSE00003592266	184999696	184999861
ENSE00003611923	185048479	185048559
ENSE00003612606	184859985	184860065
ENSE00003617455	184834649	184834742
ENSE00003627268	184926594	184926650
ENSE00003632408	184996332	184996501
ENSE00003634461	184852500	184852567
ENSE00003637240	184957374	184957521
ENSE00003645482	184866876	184866950
ENSE00003653631	184982566	184982647
ENSE00003666559	184900921	184900972
ENSE00003673948	184898565	184898654
ENSE00003683430	184854114	184854173
ENSE00003686641	184929580	184929664
ENSE00003687240	184928451	184928533
ENSE00003688245	184971649	184971752
ENSE00003688664	184849071	184849195
ENSE00003766844	184843240	184843245
ENSE00003773118	184812166	184812225
ENSE00003787426	184838714	184838746
ENSE00003788597	184826163	184826231

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 96.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6900 / max 344.4867, expressed in 1758 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40222	11.2355	1740
40221	1.4216	805
40225	0.0290	12
40223	0.0039	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.60	gold quality
calcaneal tendon	UBERON:0003701	96.55	gold quality
colonic epithelium	UBERON:0000397	94.47	gold quality
monocyte	CL:0000576	93.35	gold quality
mononuclear cell	CL:0000842	93.27	gold quality
left testis	UBERON:0004533	93.14	gold quality
right testis	UBERON:0004534	92.90	gold quality
leukocyte	CL:0000738	92.85	gold quality
blood	UBERON:0000178	92.63	gold quality
sural nerve	UBERON:0015488	92.14	gold quality
cortical plate	UBERON:0005343	92.07	gold quality
bone marrow cell	CL:0002092	92.01	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.99	gold quality
corpus callosum	UBERON:0002336	91.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.84	gold quality
testis	UBERON:0000473	91.82	gold quality
gastrocnemius	UBERON:0001388	91.77	gold quality
muscle of leg	UBERON:0001383	91.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.47	gold quality
ganglionic eminence	UBERON:0004023	91.44	gold quality
rectum	UBERON:0001052	91.15	gold quality
apex of heart	UBERON:0002098	90.73	gold quality
spinal cord	UBERON:0002240	90.69	gold quality
right frontal lobe	UBERON:0002810	90.59	gold quality
left lobe of thyroid gland	UBERON:0001120	90.55	gold quality
thyroid gland	UBERON:0002046	90.24	gold quality
adenohypophysis	UBERON:0002196	90.22	gold quality
heart left ventricle	UBERON:0002084	89.98	gold quality
pituitary gland	UBERON:0000007	89.88	gold quality
cardiac ventricle	UBERON:0002082	89.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.34
E-GEOD-100618	no	525.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting VPS8, 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-8063	99.91	69.76	3146
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-6780A-3P	98.42	67.49	1518
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-200C-5P	97.71	67.73	596
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-645	97.28	66.30	486
HSA-MIR-642B-5P	96.37	67.26	745
HSA-MIR-5586-5P	96.29	68.02	685

Literature-anchored findings (GeneRIF, showing 1)

• Vps3 and Vps8 are required for recycling of beta1 integrins. (PMID:29476049)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps8	ENSDARG00000060477
mus_musculus	Vps8	ENSMUSG00000033653
rattus_norvegicus	Vps8	ENSRNOG00000001764
drosophila_melanogaster	Vps8	FBGN0035704
caenorhabditis_elegans		WBGENE00016582

Paralogs (2): RBBP5 (ENSG00000117222), WDR72 (ENSG00000166415)

Protein

Protein identifiers

Vacuolar protein sorting-associated protein 8 homolog — Q8N3P4 (reviewed: Q8N3P4)

All UniProt accessions (12): Q8N3P4, C9JG07, C9JIA0, C9JJN9, C9JKL0, C9JP71, C9JPI1, F8WB24, H7C058, H7C1G7, H7C322, H7C490

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations. Functions predominantly in APPL1-containing endosomes.

Subunit / interactions. Interacts with RAB5C. Interacts with TGFBRAP1. Component of the putative class C core vacuole/endosome tethering (CORVET) complex; the core of which composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, is associated with VPS8 and TGFBRAP1.

Subcellular location. Early endosome.

Similarity. Belongs to the VPS8 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N3P4-1	1	yes
Q8N3P4-2	2
Q8N3P4-3	3

RefSeq proteins (9): NP_001009921, NP_001336221, NP_001336222, NP_001336223, NP_001336224, NP_001336225, NP_001336226, NP_001336227, NP_056118 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR001841	Znf_RING	Domain
IPR011044	Quino_amine_DH_bsu	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR025941	Vps8_central_dom	Domain
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR045111	Vps41/Vps8	Family
IPR056939	Znf_RING_Vps8	Domain

Pfam: PF12816, PF23410, PF23412

UniProt features (22 total): sequence conflict 7, sequence variant 4, modified residue 3, splice variant 2, compositionally biased region 2, chain 1, repeat 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N3P4-F1	74.77	0.20

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): 26, 32, 127

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_PROTEIN_TARGETING, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, ATGTTAA_MIR302C, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_VACUOLE, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE

GO Biological Process (4): protein targeting to vacuole (GO:0006623), endosomal vesicle fusion (GO:0034058), regulation of SNARE complex assembly (GO:0035542), protein transport (GO:0015031)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): early endosome (GO:0005769), late endosome (GO:0005770), HOPS complex (GO:0030897), CORVET complex (GO:0033263), endosome (GO:0005768)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome	3
vesicle tethering complex	2
protein targeting	1
intracellular protein transport	1
vacuolar transport	1
protein localization to vacuole	1
establishment of protein localization to vacuole	1
vesicle fusion	1
SNARE complex assembly	1
regulation of protein-containing complex assembly	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
transition metal ion binding	1
binding	1
cation binding	1
membrane protein complex	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

968 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS8	TGFBRAP1	Q8WUH2	999
VPS8	VPS16	Q9H269	970
VPS8	VPS11	Q9H270	963
VPS8	VPS18	Q9P253	943
VPS8	VPS39	Q96JC1	903
VPS8	CHMP2A	O43633	889
VPS8	VPS41	P49754	839
VPS8	RAB5A	P20339	815
VPS8	VPS33A	Q96AX1	792
VPS8	VPS45	Q9NRW7	778
VPS8	CCZ1B	P86790	714
VPS8	VPS36	Q86VN1	674
VPS8	VPS33B	Q9H267	606
VPS8	VIPAS39	Q9H9C1	599
VPS8	MON1A	Q86VX9	584

IntAct

74 interactions, top by confidence:

A	B	Type	Score
TGFBRAP1	VPS8	psi-mi:“MI:0915”(physical association)	0.740
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
FZD10	NRP1	psi-mi:“MI:0914”(association)	0.530
KIF2B	BACH1	psi-mi:“MI:0914”(association)	0.530
TGFBRAP1	VPS41	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
SLC30A4	OPA1	psi-mi:“MI:0914”(association)	0.530
	VPS8	psi-mi:“MI:0915”(physical association)	0.400
VPS8	SPG11	psi-mi:“MI:0915”(physical association)	0.370
SMAD9	VPS8	psi-mi:“MI:0915”(physical association)	0.370
P2RY6	ESYT2	psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	KIAA1324L	psi-mi:“MI:0914”(association)	0.350
PNKD	EXOC5	psi-mi:“MI:0914”(association)	0.350
UXS1	IPO7	psi-mi:“MI:0914”(association)	0.350
EDNRB	EXOC5	psi-mi:“MI:0914”(association)	0.350
ALDH3A2	CAND2	psi-mi:“MI:0914”(association)	0.350
	NBAS	psi-mi:“MI:0914”(association)	0.350
LSG1	VPS41	psi-mi:“MI:0914”(association)	0.350
VPS8	NUP214	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
RUSF1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
MLNR	NBAS	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350

BioGRID (103): VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-Western), VPS11 (Affinity Capture-Western), VPS16 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-Western), VPS8 (Affinity Capture-MS), VPS8 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QPS5, A2RRP1, A4D1P6, B1WC10, B2RYI0, F1QNV4, F4HXV6, P50748, Q05B30, Q09417, Q0P5W1, Q12769, Q16K67, Q19317, Q2HJE1, Q2TAQ1, Q32NR9, Q32PH0, Q3SYG4, Q3U0M1, Q4ADV7, Q5TYW4, Q5U249, Q5ZLL7, Q68F70, Q69ZJ7, Q6PA97, Q6TEN6, Q7TMQ7, Q811G0, Q84JM4, Q8C456, Q8CIM8, Q8N3P4, Q8R0G9, Q8VHU4, Q8WUM0, Q91VB4, Q96HW7, Q96Q05

Diamond homologs: Q0P5W1, Q8N3P4, Q9VRX2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	VPS8	ubiquitination
VPS8	“form complex”	“CORVET tethering complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 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
positive regulation of cytosolic calcium ion concentration	8	11.4×	3e-04
protein import into nucleus	6	10.5×	4e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	6	9.6×	5e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	6	8.3×	7e-03
G protein-coupled receptor signaling pathway	10	4.4×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	184
Likely benign	13
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

7738 predictions. Top by Δscore:

Variant	Effect	Δscore
3:184826158:TTTA:T	acceptor_loss	1.0000
3:184826159:TTAG:T	acceptor_loss	1.0000
3:184826160:TA:T	acceptor_loss	1.0000
3:184826161:A:AG	acceptor_gain	1.0000
3:184826161:A:AT	acceptor_loss	1.0000
3:184826162:G:GA	acceptor_gain	1.0000
3:184826162:GATT:G	acceptor_gain	1.0000
3:184826227:ATGAG:A	donor_gain	1.0000
3:184826228:TGAG:T	donor_gain	1.0000
3:184826229:GAG:G	donor_gain	1.0000
3:184826229:GAGG:G	donor_gain	1.0000
3:184826229:GAGGT:G	donor_loss	1.0000
3:184826230:AG:A	donor_gain	1.0000
3:184826231:GG:G	donor_gain	1.0000
3:184826231:GGTA:G	donor_loss	1.0000
3:184826232:G:GA	donor_loss	1.0000
3:184826232:G:GG	donor_gain	1.0000
3:184832682:A:AG	acceptor_gain	1.0000
3:184832683:A:G	acceptor_gain	1.0000
3:184832684:TTTA:T	acceptor_loss	1.0000
3:184832685:TTAGA:T	acceptor_loss	1.0000
3:184832686:TAGAC:T	acceptor_loss	1.0000
3:184832687:A:AG	acceptor_gain	1.0000
3:184832687:AGACT:A	acceptor_gain	1.0000
3:184832688:G:GG	acceptor_gain	1.0000
3:184832688:GACT:G	acceptor_gain	1.0000
3:184832688:GACTG:G	acceptor_gain	1.0000
3:184832820:G:GA	donor_loss	1.0000
3:184832820:G:GG	donor_gain	1.0000
3:184834644:TTCA:T	acceptor_loss	1.0000

AlphaMissense

9447 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:184826224:T:C	L72P	1.000
3:184839722:G:C	G169R	1.000
3:184839723:G:A	G169D	1.000
3:184849170:T:C	L214P	1.000
3:184849179:G:A	G217D	1.000
3:184849945:T:A	W226R	1.000
3:184849945:T:C	W226R	1.000
3:184852522:C:A	A259E	1.000
3:184852542:G:C	G266R	1.000
3:184852543:G:A	G266D	1.000
3:184852549:T:A	V268D	1.000
3:184852551:T:C	F269L	1.000
3:184852553:T:A	F269L	1.000
3:184852553:T:G	F269L	1.000
3:184853897:T:C	F288L	1.000
3:184853898:T:C	F288S	1.000
3:184853899:C:A	F288L	1.000
3:184853899:C:G	F288L	1.000
3:184853904:G:A	G290D	1.000
3:184853912:G:C	G293R	1.000
3:184853912:G:T	G293C	1.000
3:184853991:C:A	A319D	1.000
3:184854118:T:C	L327P	1.000
3:184854121:T:A	V328D	1.000
3:184855741:T:A	W356R	1.000
3:184855741:T:C	W356R	1.000
3:184855781:T:C	L369P	1.000
3:184862897:T:A	W409R	1.000
3:184862897:T:C	W409R	1.000
3:184863056:A:C	S462R	1.000

dbSNP variants (sampled 300 via entrez): RS1000005244 (3:184886366 G>A,C), RS1000008624 (3:184984701 A>T), RS1000015405 (3:184999213 A>G), RS1000027891 (3:185029379 G>A,C), RS1000030122 (3:184931997 G>A), RS1000046852 (3:184916859 T>C), RS1000063525 (3:184914762 C>A), RS1000066011 (3:184998936 C>T), RS1000073752 (3:184938782 T>C), RS1000087006 (3:184931747 A>G), RS1000093036 (3:184901265 G>A,T), RS1000100650 (3:184963144 G>C), RS1000103464 (3:184894494 G>A,C,T), RS1000128232 (3:185021790 G>A), RS1000153734 (3:185048890 T>A)

Disease associations

OMIM: gene MIM:618366 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
arthrogryposis multiplex congenita	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
arthrogryposis multiplex congenita	Limited	AR

Mondo (1): arthrogryposis multiplex congenita (MONDO:0015168)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001188_10	vWF and FVIII levels	1.000000e-06
GCST002579_20	Heschl’s gyrus morphology	9.000000e-06
GCST003558_1	Major depressive disorder	5.000000e-11
GCST009391_565	Metabolite levels	2.000000e-06
GCST011939_18	Takayasu arteritis	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010498	hydroxyproline measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression	3
Valproic Acid	affects expression, increases expression	3
bisphenol A	decreases methylation, increases expression, affects cotreatment	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation, increases expression	2
Estradiol	affects expression, affects binding, increases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression, increases oxidation	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
clothianidin	decreases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	decreases expression, increases oxidation, increases abundance, affects cotreatment	1
Arsenic	increases methylation	1
Cadmium	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
Ozone	increases abundance, affects cotreatment, decreases expression, increases oxidation	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05393375	Not specified	COMPLETED	Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265	Not specified	UNKNOWN	Pediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592	Not specified	UNKNOWN	Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
NCT07360574	Not specified	NOT_YET_RECRUITING	Piezo2-related Arthrogryposis & physiopathOLOgy 3