CHMP7

Summary

CHMP7 (charged multivesicular body protein 7, HGNC:28439) is a protein-coding gene on chromosome 8p21.3, encoding Charged multivesicular body protein 7 (Q8WUX9). ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope (NE) during late anaphase. It is a selective cancer dependency (DepMap: 65.8% of cell lines).

Involved in several processes, including midbody abscission; mitotic nuclear division; and vacuolar transport. Located in several cellular components, including bounding membrane of organelle; chromosome; and nucleus. Part of ESCRT III complex and nuclear pore.

Source: NCBI Gene 91782 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 76 total
• Cancer dependency (DepMap): dependent in 65.8% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_152272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28439
Approved symbol	CHMP7
Name	charged multivesicular body protein 7
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC29816
Ensembl gene	ENSG00000147457
Ensembl biotype	protein_coding
OMIM	611130
Entrez	91782

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000313219, ENST00000397677, ENST00000517325, ENST00000519414, ENST00000519503, ENST00000519529, ENST00000519984, ENST00000520102, ENST00000521656, ENST00000523091, ENST00000880275, ENST00000880276, ENST00000928664, ENST00000928665, ENST00000962089, ENST00000962090

RefSeq mRNA: 3 — MANE Select: NM_152272 NM_001317899, NM_001363183, NM_152272

CCDS: CCDS6040

Canonical transcript exons

ENST00000397677 — 11 exons

Exon	Start	End
ENSE00001529677	23246256	23246994
ENSE00001529678	23243637	23243844
ENSE00001792813	23260538	23261999
ENSE00003497408	23249210	23249381
ENSE00003508327	23259066	23259126
ENSE00003553158	23256460	23256593
ENSE00003570518	23260144	23260323
ENSE00003592236	23258033	23258081
ENSE00003628347	23258330	23258449
ENSE00003652944	23258732	23258830
ENSE00003661248	23255247	23255432

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 94.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3052 / max 688.6949, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87887	16.7648	1812
87885	8.5201	173
87886	0.0203	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	94.52	gold quality
cortical plate	UBERON:0005343	94.31	gold quality
granulocyte	CL:0000094	94.16	gold quality
ganglionic eminence	UBERON:0004023	93.44	gold quality
vermiform appendix	UBERON:0001154	92.87	gold quality
tendon of biceps brachii	UBERON:0008188	92.58	silver quality
right adrenal gland cortex	UBERON:0035827	92.47	gold quality
apex of heart	UBERON:0002098	92.22	gold quality
spleen	UBERON:0002106	92.22	gold quality
ventricular zone	UBERON:0003053	92.07	gold quality
right adrenal gland	UBERON:0001233	91.98	gold quality
thymus	UBERON:0002370	91.96	gold quality
gastrocnemius	UBERON:0001388	91.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.20	gold quality
blood	UBERON:0000178	91.17	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.07	gold quality
lower esophagus	UBERON:0013473	91.06	gold quality
left adrenal gland	UBERON:0001234	91.04	gold quality
islet of Langerhans	UBERON:0000006	90.95	gold quality
muscle of leg	UBERON:0001383	90.88	gold quality
left adrenal gland cortex	UBERON:0035825	90.83	gold quality
adrenal cortex	UBERON:0001235	90.76	gold quality
adrenal gland	UBERON:0002369	90.74	gold quality
tonsil	UBERON:0002372	90.71	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.68	gold quality
caecum	UBERON:0001153	90.58	gold quality
heart left ventricle	UBERON:0002084	90.58	gold quality
stromal cell of endometrium	CL:0002255	90.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.43	gold quality
cardiac ventricle	UBERON:0002082	90.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

99 targeting CHMP7, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4645-5P	99.98	65.81	1284
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-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-1299	99.77	71.24	2389

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 65.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 11)

• Results suggest that CHMP7, a novel CHMP4-associated ESCRT-III-related protein, functions in the endosomal sorting pathway. (PMID:16856878)
• UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7. (PMID:17711858)
• The N terminus of CHMP7 acts as a novel membrane-binding module. This membrane-binding ability allows CHMP7 to bind to the endoplasmic reticulum, an organelle continuous with the nuclear envelope (NE), and it provides a platform to direct NE recruitment of ESCRT-III during mitotic exit. (PMID:27618263)
• We conclude that Lem2p/LEM2 is a conserved nuclear site-specific adaptor that recruits Cmp7p/CHMP7 and downstream ESCRT factors to the nuclear envelope. (PMID:28242692)
• Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy. (PMID:30837566)
• Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure. (PMID:32271860)
• Functional validation of CHMP7 as an ADHD risk gene. (PMID:33159045)
• CDK1 controls CHMP7-dependent nuclear envelope reformation. (PMID:34286694)
• Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS. (PMID:34321318)
• Oligomeric CHMP7 mediates three-way ER junctions and ER-mitochondria interactions. (PMID:35962186)
• SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis. (PMID:37639327)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	chmp7	ENSDARG00000041362
mus_musculus	Chmp7	ENSMUSG00000034190
rattus_norvegicus	Chmp7	ENSRNOG00000016939

Paralogs (5): CHMP5 (ENSG00000086065), CHMP4B (ENSG00000101421), CHMP4C (ENSG00000164695), CHMP4A (ENSG00000254505), CHMP4BP1 (ENSG00000258469)

Protein

Protein identifiers

Charged multivesicular body protein 7 — Q8WUX9 (reviewed: Q8WUX9)

Alternative names: Chromatin-modifying protein 7

All UniProt accessions (4): Q8WUX9, E5RFR8, E5RIU9, E5RJI3

UniProt curated annotations — full annotation on UniProt →

Function. ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope (NE) during late anaphase. Together with SPAST, the ESCRT-III complex promotes NE sealing and mitotic spindle disassembly during late anaphase. Recruited to the reforming NE during anaphase by LEMD2. Plays a role in the endosomal sorting pathway.

Subunit / interactions. Interacts with CHMP4B, but not with VPS25. Interacts with LEMD2 (via C-terminus).

Subcellular location. Cytoplasm. Nucleus envelope.

Similarity. Belongs to the SNF7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WUX9-1	1	yes
Q8WUX9-2	2

RefSeq proteins (3): NP_001304828, NP_001350112, NP_689485* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005024	Snf7_fam	Family
IPR057471	CHMP7_WHD	Domain

Pfam: PF03357, PF25239, PF25880

UniProt features (17 total): modified residue 6, region of interest 3, splice variant 2, sequence conflict 2, compositionally biased region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUX9-F1	76.53	0.44

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 (6): 417, 431, 441, 232, 408, 410

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-162588	Budding and maturation of HIV virion
R-HSA-1632852	Macroautophagy
R-HSA-5620971	Pyroptosis
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379	HCMV Late Events
R-HSA-9615710	Late endosomal microautophagy
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-9679504	Translation of Replicase and Assembly of the Replication Transcription Complex
R-HSA-9694676	Translation of Replicase and Assembly of the Replication Transcription Complex

MSigDB gene sets: 321 (showing top): GOBP_MITOTIC_CYTOKINESIS, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_CHROMOSOME_ORGANIZATION, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_MEMBRANE_BIOGENESIS, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_MEMBRANE_FUSION

GO Biological Process (25): plasma membrane repair (GO:0001778), vesicle budding from membrane (GO:0006900), autophagy (GO:0006914), nucleus organization (GO:0006997), mitotic metaphase chromosome alignment (GO:0007080), exit from mitosis (GO:0010458), protein transport (GO:0015031), nuclear membrane reassembly (GO:0031468), late endosome to vacuole transport via multivesicular body sorting pathway (GO:0032511), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), late endosome to vacuole transport (GO:0045324), viral budding from plasma membrane (GO:0046761), vesicle fusion with vacuole (GO:0051469), multivesicular body-lysosome fusion (GO:0061763), midbody abscission (GO:0061952), protein localization to chromatin (GO:0071168), multivesicular body sorting pathway (GO:0071985), membrane fission (GO:0090148), autophagosome maturation (GO:0097352), regulation of mitotic spindle assembly (GO:1901673), late endosome to lysosome transport (GO:1902774), ESCRT III complex disassembly (GO:1904903), vacuolar transport (GO:0007034)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (18): autophagosome membrane (GO:0000421), kinetochore (GO:0000776), chromatin (GO:0000785), ESCRT III complex (GO:0000815), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), multivesicular body (GO:0005771), kinetochore microtubule (GO:0005828), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), midbody (GO:0030496), multivesicular body membrane (GO:0032585), amphisome membrane (GO:1904930), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Autophagy	2
Late Phase of HIV Life Cycle	1
Regulated Necrosis	1
Membrane Trafficking	1
HCMV Infection	1
Nuclear Envelope (NE) Reassembly	1
SARS-CoV-1 Infection	1
Early SARS-CoV-2 Infection Events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
vesicle-mediated transport	3
membrane organization	3
viral budding	2
vesicle fusion	2
plasma membrane organization	1
wound healing	1
vesicle organization	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle organization	1
mitotic sister chromatid segregation	1
mitotic cell cycle	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
mitotic cell cycle phase transition	1
mitotic nuclear division	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
membrane assembly	1
nuclear membrane organization	1
endosome transport via multivesicular body sorting pathway	1
late endosome to vacuole transport	1
multivesicular body organization	1
organelle assembly	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
multivesicular body sorting pathway	1
vacuolar transport	1
intercellular transport	1
non-lytic viral release	1
vacuole fusion	1
endosome to lysosome transport via multivesicular body sorting pathway	1
lysosomal membrane organization	1
mitotic cytokinetic process	1
protein localization to chromosome	1
binding	1
vacuolar membrane	1

Protein interactions and networks

STRING

1001 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHMP7	LEMD2	Q8NC56	966
CHMP7	VPS25	Q9BRG1	919
CHMP7	IST1	P53990	892
CHMP7	CHMP5	Q9NZZ3	883
CHMP7	CHMP3	Q9Y3E7	880
CHMP7	CHMP2A	O43633	879
CHMP7	A0A140T963	A0A140T963	876
CHMP7	CHMP1A	Q9HD42	866
CHMP7	CHMP1B	Q7LBR1	832
CHMP7	CHMP4A	Q9BY43	809
CHMP7	CHMP2B	Q9UQN3	743
CHMP7	SPAST	Q9UBP0	702
CHMP7	CHMP6	Q96FZ7	680
CHMP7	CHMP4C	Q96CF2	679
CHMP7	VTA1	Q9NP79	575

IntAct

75 interactions, top by confidence:

A	B	Type	Score
CHMP7	HRAS	psi-mi:“MI:0915”(physical association)	0.660
CASP6	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CCK	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CHAT	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
DMWD	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CHMP7		psi-mi:“MI:0915”(physical association)	0.560
CHMP7	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
FKBP1A	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
GRIN2C	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CHMP7	GSN	psi-mi:“MI:0915”(physical association)	0.560
HSPA2	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CHMP7	PMP22	psi-mi:“MI:0915”(physical association)	0.560
RAN	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
DNALI1	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
KLF11	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
NUP58	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	CHMP7	psi-mi:“MI:0915”(physical association)	0.560
CHMP7	SPRED1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (103): CHMP7 (Affinity Capture-RNA), CHMP7 (Affinity Capture-RNA), CHMP7 (Two-hybrid), ARHGAP17 (Co-fractionation), CHMP7 (Co-fractionation), CHMP7 (Co-fractionation), CHMP7 (Co-fractionation), CHMP7 (Proximity Label-MS), CHMP7 (Two-hybrid), CHMP7 (Affinity Capture-MS), CHMP7 (Proximity Label-MS), CHMP7 (Proximity Label-MS), CHMP7 (Proximity Label-MS), CHMP7 (Proximity Label-MS), CHMP7 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GU71, A6QPI4, B2RV13, D4A6L0, E1BBQ2, F1LQY6, G3UW36, O08856, P15382, P53801, P55199, P56182, Q08CB3, Q0VF94, Q148E1, Q17RQ9, Q2KJ58, Q32Q90, Q4R5F9, Q4V8A6, Q4VA36, Q5I0I4, Q5NVI6, Q5R8Q2, Q5T6X4, Q5T848, Q5XII8, Q68EN5, Q6P767, Q8C419, Q8CHT6, Q8R143, Q8R1T1, Q8TBN0, Q8VDV3, Q8WUX9, Q90YH8, Q91WM6, Q91ZP9, Q96IL0

Diamond homologs: Q5FW14, Q5R812, Q5ZJB7, Q6PBQ2, Q7T0X5, Q8R1T1, Q8WUX9, O74422, O82197, Q54KZ4, Q6BSH2, Q8T0Q4, Q9SZE4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CDK1	“down-regulates activity”	CHMP7	phosphorylation
CHMP7	“form complex”	ESCRT-III	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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
HCMV Late Events	5	17.0×	7e-05
RAF/MAP kinase cascade	6	12.6×	6e-05

GO biological processes:

GO term	Partners	Fold	FDR
autophagosome maturation	5	53.2×	1e-05
macroautophagy	5	36.5×	4e-05
MAPK cascade	5	23.2×	1e-04
protein transport	6	8.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1843 predictions. Top by Δscore:

Variant	Effect	Δscore
8:23249208:A:AG	acceptor_gain	1.0000
8:23249209:G:GA	acceptor_gain	1.0000
8:23249209:GTCGA:G	acceptor_gain	1.0000
8:23249377:TGAAG:T	donor_loss	1.0000
8:23249379:AAGGT:A	donor_loss	1.0000
8:23249380:AGGT:A	donor_loss	1.0000
8:23249382:G:C	donor_loss	1.0000
8:23249383:T:A	donor_loss	1.0000
8:23255305:T:TA	acceptor_gain	1.0000
8:23255429:GAAG:G	donor_gain	1.0000
8:23255430:AAGGT:A	donor_loss	1.0000
8:23255431:AGGTA:A	donor_loss	1.0000
8:23255433:G:GG	donor_gain	1.0000
8:23255433:GTAT:G	donor_loss	1.0000
8:23256456:TCAG:T	acceptor_loss	1.0000
8:23256457:CA:C	acceptor_loss	1.0000
8:23256458:AG:A	acceptor_loss	1.0000
8:23256459:G:GA	acceptor_loss	1.0000
8:23256459:GATT:G	acceptor_gain	1.0000
8:23256583:G:GT	donor_gain	1.0000
8:23256589:GAGAG:G	donor_gain	1.0000
8:23256591:GAG:G	donor_gain	1.0000
8:23258024:T:TA	acceptor_gain	1.0000
8:23258028:TCCA:T	acceptor_loss	1.0000
8:23258030:CAG:C	acceptor_loss	1.0000
8:23258031:A:AC	acceptor_loss	1.0000
8:23258031:A:AG	acceptor_gain	1.0000
8:23258031:AG:A	acceptor_gain	1.0000
8:23258031:AGGT:A	acceptor_gain	1.0000
8:23258032:G:GG	acceptor_gain	1.0000

AlphaMissense

2944 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:23256533:T:C	L244P	1.000
8:23258741:G:C	A324P	1.000
8:23246858:T:C	F55L	0.999
8:23246860:C:A	F55L	0.999
8:23246860:C:G	F55L	0.999
8:23246861:T:A	W56R	0.999
8:23246861:T:C	W56R	0.999
8:23246863:G:C	W56C	0.999
8:23246863:G:T	W56C	0.999
8:23246958:C:A	P88Q	0.999
8:23246963:G:A	G90R	0.999
8:23246963:G:C	G90R	0.999
8:23246963:G:T	G90W	0.999
8:23255386:T:C	L204P	0.999
8:23256470:T:C	F223S	0.999
8:23258403:T:A	V305D	0.999
8:23258415:T:C	L309P	0.999
8:23258421:G:C	R311P	0.999
8:23258744:T:G	Y325D	0.999
8:23258750:G:C	A327P	0.999
8:23246796:T:C	L34P	0.998
8:23246807:T:C	F38L	0.998
8:23246808:T:C	F38S	0.998
8:23246809:C:A	F38L	0.998
8:23246809:C:G	F38L	0.998
8:23246840:T:A	W49R	0.998
8:23246840:T:C	W49R	0.998
8:23246842:G:C	W49C	0.998
8:23246842:G:T	W49C	0.998
8:23246851:G:C	K52N	0.998

dbSNP variants (sampled 300 via entrez): RS1000189918 (8:23262139 G>A), RS1000328485 (8:23262004 C>T), RS1000371901 (8:23262138 C>A,T), RS1000492217 (8:23258029 C>T), RS1000533343 (8:23251934 A>C,G,T), RS1000565825 (8:23250620 C>G), RS1000621502 (8:23256239 T>A,C), RS1000710758 (8:23257625 C>A,T), RS1001049578 (8:23252272 G>A,C), RS1001088708 (8:23246730 C>G), RS1001156280 (8:23246915 C>T), RS1001206264 (8:23247194 G>A), RS1001242832 (8:23262490 C>T), RS1001484629 (8:23257694 G>C,T), RS1001496403 (8:23257516 G>A)

Disease associations

OMIM: gene MIM:611130 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000751_1	Attention deficit hyperactivity disorder	3.000000e-06
GCST005957_7	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-06
GCST005958_10	Waist-to-hip ratio adjusted for BMI (age >50)	3.000000e-08
GCST005962_21	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-11
GCST010703_236	Brain morphology (MOSTest)	3.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	increases abundance, affects cotreatment, increases oxidation	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
ochratoxin A	decreases acetylation	1
di-n-butylphosphoric acid	affects expression	1
corosolic acid	increases expression	1
K 7174	increases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SI99	HAP1 CHMP7 (-) 1	Cancer cell line	Male
CVCL_XM80	HAP1 CHMP7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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