MAD2L1BP

Summary

MAD2L1BP (MAD2L1 binding protein, HGNC:21059) is a protein-coding gene on chromosome 6p21.1, encoding MAD2L1-binding protein (Q15013). May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex. It is a selective cancer dependency (DepMap: 44.3% of cell lines).

The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Source: NCBI Gene 9587 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 42 total
• Cancer dependency (DepMap): dependent in 44.3% of screened cell lines
• MANE Select transcript: NM_014628

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21059
Approved symbol	MAD2L1BP
Name	MAD2L1 binding protein
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	CMT2, KIAA0110, dJ261G23.1, p31comet
Ensembl gene	ENSG00000124688
Ensembl biotype	protein_coding
OMIM	618136
Entrez	9587

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000372171, ENST00000451025, ENST00000508232, ENST00000924971, ENST00000924972

RefSeq mRNA: 2 — MANE Select: NM_014628 NM_001003690, NM_014628

CCDS: CCDS47431, CCDS4904

Canonical transcript exons

ENST00000372171 — 3 exons

Exon	Start	End
ENSE00001141072	43636381	43636646
ENSE00002085727	43640021	43640941
ENSE00002227836	43635840	43635921

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 93.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3646 / max 81.3311, expressed in 1808 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67919	11.5653	1799
67920	6.9821	1757
67918	0.8172	525

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	93.74	gold quality
oocyte	CL:0000023	91.09	gold quality
rectum	UBERON:0001052	90.83	gold quality
islet of Langerhans	UBERON:0000006	89.74	gold quality
granulocyte	CL:0000094	88.98	gold quality
gastrocnemius	UBERON:0001388	88.98	gold quality
monocyte	CL:0000576	88.95	gold quality
leukocyte	CL:0000738	88.94	gold quality
mononuclear cell	CL:0000842	88.92	gold quality
muscle of leg	UBERON:0001383	88.58	gold quality
transverse colon	UBERON:0001157	88.45	gold quality
cortical plate	UBERON:0005343	88.21	gold quality
heart left ventricle	UBERON:0002084	88.09	gold quality
apex of heart	UBERON:0002098	88.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.90	gold quality
cardiac ventricle	UBERON:0002082	87.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.45	gold quality
colonic mucosa	UBERON:0000317	87.32	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	87.20	gold quality
duodenum	UBERON:0002114	87.18	gold quality
secondary oocyte	CL:0000655	87.16	gold quality
body of stomach	UBERON:0001161	87.10	gold quality
mucosa of sigmoid colon	UBERON:0004993	87.09	gold quality
muscle organ	UBERON:0001630	86.81	gold quality
ganglionic eminence	UBERON:0004023	86.71	gold quality
cervix squamous epithelium	UBERON:0006922	86.67	gold quality
endometrium epithelium	UBERON:0004811	86.57	gold quality
stromal cell of endometrium	CL:0002255	86.40	gold quality
prefrontal cortex	UBERON:0000451	86.32	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	253.56
E-ANND-3	yes	6.75
E-MTAB-7303	no	274.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting MAD2L1BP, 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-4531	99.99	69.70	3181
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-6782-3P	97.60	67.75	931
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-6769B-3P	97.41	65.53	1036
HSA-MIR-3183	97.40	65.68	978
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-711	96.60	65.75	528

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 44.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 25)

• p31(comet, formerly known as Cmt2) counteracts the function of Mad2 and is required for the silencing of the spindle checkpoint (PMID:15257285)
• p31(comet) does not have an impact on the formation of aneuploidy and tetraploidy found in human hepatocellular carcinoma. (PMID:17934339)
• Data suggest that p31(comet)(CMT2) exploits the two-state behavior of Mad2 to block its activation by acting as an “anti-Mad2.” (PMID:18022368)
• p31(comet) induces tumor cell senescence by mediating p21(Waf1/Cip1) accumulation and Mad2 disruption and that these effects are dependent on a direct interaction of p31(comet) with Mad2. (PMID:19276188)
• Although p31(comet) binds to Mad2, it promotes the dissociation of Cdc20 from BubR1 in MCC. (PMID:21300909)
• p31comet localizes to kinetochores in a C-Mad2-dependent manner. the Mad1:C-Mad2 complex undergoes regulation by p31comet-dependent ‘capping’. (PMID:21772247)
• both p31(comet) and ubiquitination of Cdc20 are critical mechanisms of checkpoint inactivation. They act redundantly to promote Mad2 dissociation from Cdc20 (PMID:21937719)
• study found p31(comet) traffics on and off kinetochores and also present in the cytosol; Cells depleted of p31(comet) arrest in metaphase with mature bipolar kinetochore-microtubule attachments; propose that p31(comet) is an essential component of machinery that silences the checkpoint during each cell cycle (PMID:21965286)
• p31(comet) negatively regulates the spindle assembly checkpoint by extracting Mad2 from the MCC. (PMID:22100920)
• This review presents knowledge of CMT2 and possible pathogenetic mechanisms responsible for the disease (PMID:22235654)
• the importance of p31(comet) in checkpoint silencing and its potential as a target for antimitotic therapies. (PMID:22544748)
• The binding of p31(comet) to Mad2 in mitotic checkpoint complex may trigger a conformational change in Cdc20 that facilitates its phosphorylation by Cdk, and that the latter process may promote its dissociation from BubR1. (PMID:22566641)
• Altered p31(Comet):Mad2 expression ratios may provide new insight into altered spindle assembly checkpoint function and the generation of chromosomal instability in tumors. (PMID:24131926)
• attenuating the affinity of p31(Comet) for Mad2 by phosphorylation promotes SAC activity in mitosis. Specifically, phosphorylation of Ser-102 weakens p31(Comet)-Mad2 binding and enhances p31(Comet)-mediated bypass of the SAC. (PMID:24596092)
• joint action of TRIP13 and p31(comet) also promotes the release of Mad2 from MCC, participates in the complete disassembly of MCC and abrogates checkpoint inhibition of APC/C (PMID:25092294)
• the oligomeric form of TRIP13 binds both p31(comet) and MCC (PMID:26324890)
• p31comet-induced cell death is mediated by interactions with Mad2 (PMID:26544187)
• Thes authors show that p31(comet) binding to the TRIP13 N-terminal domain positions the disordered MAD2 N-terminus for engagement by the TRIP13 “pore loops”, which then unfold MAD2 in the presence of ATP. (PMID:28659378)
• TRIP13-p31(comet) intercepts and disassembles free mitotic checkpoint complex not bound to anaphase-promoting complex/cyclosome through mediating the local unfolding of the Mad2 C-terminal region. (PMID:29208896)
• MAD2-p31(comet) axis may serve as a potential therapeutic target for glioma. (PMID:29408509)
• The phosphorylation of p31(comet) by Plk1 prevents a futile cycle of MCC assembly and disassembly during the active mitotic checkpoint. (PMID:31118282)
• Mitotic slippage is determined by p31(comet) and the weakening of the spindle-assembly checkpoint. (PMID:32029899)
• p31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase. (PMID:33051298)
• Biallelic variants in MAD2L1BP (p31[comet]) cause female infertility characterized by oocyte maturation arrest. (PMID:37334967)
• Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors. (PMID:37796616)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mad2l1bp	ENSDARG00000104943
mus_musculus	Mad2l1bp	ENSMUSG00000034509
rattus_norvegicus	Mad2l1bp	ENSRNOG00000019463
drosophila_melanogaster	CG13599	FBGN0039128

Protein

Protein identifiers

MAD2L1-binding protein — Q15013 (reviewed: Q15013)

Alternative names: Caught by MAD2 protein, p31(comet)

All UniProt accessions (1): Q15013

UniProt curated annotations — full annotation on UniProt →

Function. May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex.

Subunit / interactions. Interacts with MAD2L1.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Spindle.

Similarity. Belongs to the MAD2L1BP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15013-1	1	yes
Q15013-3	2

RefSeq proteins (2): NP_001003690, NP_055443* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009511	MAD1/Cdc20-bound-Mad2-bd	Family
IPR053729	MAD2L1BP_domain_sf	Homologous_superfamily

Pfam: PF06581

UniProt features (24 total): strand 9, helix 5, turn 2, mutagenesis site 2, sequence conflict 2, chain 1, region of interest 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2QYF	X-RAY DIFFRACTION	2.3
6F0X	ELECTRON MICROSCOPY	4.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15013-F1	80.45	0.62

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 (1): 102

Mutagenesis-validated functional residues (2):

Position	Phenotype
83	loss of interaction with mad2l1 and disruption of ability to overcome spindle checkpoint-dependent mitotic arrest; when
191	loss of interaction with mad2l1 and disruption of ability to overcome spindle checkpoint-dependent mitotic arrest; when

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_NUCLEAR_DIVISION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, MORF_RAB5A, GOBP_REGULATION_OF_NUCLEAR_DIVISION, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_CHROMOSOME_SEPARATION, GOBP_REGULATION_OF_EXIT_FROM_MITOSIS, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, MORF_SKP1A, GOBP_ORGANELLE_FISSION

GO Biological Process (2): regulation of exit from mitosis (GO:0007096), deactivation of mitotic spindle assembly checkpoint (GO:1902426)

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

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), spindle (GO:0005819), nuclear membrane (GO:0031965), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
nuclear lumen	2
cellular anatomical structure	2
exit from mitosis	1
regulation of mitotic cell cycle phase transition	1
negative regulation of mitotic spindle assembly checkpoint signaling	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
nucleus	1
nuclear envelope	1
organelle membrane	1

Protein interactions and networks

STRING

520 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAD2L1BP	TRIP13	Q15645	876
MAD2L1BP	BUB3	O43684	620
MAD2L1BP	MAD2L1	Q13257	615
MAD2L1BP	CDC20	Q12834	582
MAD2L1BP	MAD1L1	Q9Y6D9	565
MAD2L1BP	BUB1B	O60566	544
MAD2L1BP	DRAXIN	Q8NBI3	440
MAD2L1BP	CENPI	Q92674	395
MAD2L1BP	PTTG2	Q9NZH5	394
MAD2L1BP	TMEM278	A6NKF7	384
MAD2L1BP	MAD2L2	Q9UI95	375
MAD2L1BP	TCF24	Q7RTU0	373
MAD2L1BP	PTTG1	O95997	359
MAD2L1BP	NKAIN4	Q8IVV8	347
MAD2L1BP	RGSL1	A5PLK6	346

IntAct

114 interactions, top by confidence:

A	B	Type	Score
CDC20	BUB1B	psi-mi:“MI:0914”(association)	0.980
MAD2L1	CDC20	psi-mi:“MI:0914”(association)	0.980
MAD1L1	MAD2L1	psi-mi:“MI:0914”(association)	0.980
MAD1L1	MAD2L1	psi-mi:“MI:0403”(colocalization)	0.980
MAD2L1	MAD2L1BP	psi-mi:“MI:0915”(physical association)	0.960
MAD2L1BP	MAD2L1	psi-mi:“MI:0915”(physical association)	0.960
MAD2L1BP	MAD2L1	psi-mi:“MI:0407”(direct interaction)	0.960
MAD2L1BP	MAD2L1	psi-mi:“MI:0914”(association)	0.960
MAD2L1BP	INPP5K	psi-mi:“MI:0915”(physical association)	0.870
INPP5K	MAD2L1BP	psi-mi:“MI:0915”(physical association)	0.870
MAD2L1BP	TRIP13	psi-mi:“MI:0915”(physical association)	0.870
TRIP13	MAD2L1BP	psi-mi:“MI:0915”(physical association)	0.870
PSMG2	PSMG1	psi-mi:“MI:0914”(association)	0.850
LBR	MAD2L1BP	psi-mi:“MI:0914”(association)	0.730
MAD2L1BP	LBR	psi-mi:“MI:0914”(association)	0.730

BioGRID (123): MAD2L1BP (Two-hybrid), MAD2L1BP (Two-hybrid), MAD2L1BP (Two-hybrid), INPP5K (Two-hybrid), HOMEZ (Two-hybrid), MAD2L1BP (Affinity Capture-MS), MAD2L1BP (Affinity Capture-MS), MAD2L1BP (Two-hybrid), MAD2L1BP (Two-hybrid), MAD2L1BP (Affinity Capture-Western), MAD2L1BP (Affinity Capture-MS), MAD2L1BP (Affinity Capture-MS), MAD2L1BP (Affinity Capture-Western), MAD2L1BP (Reconstituted Complex), MAD2L1BP (Affinity Capture-MS)

ESM2 similar proteins: A2A9C3, A2ACJ2, A6QLD5, A8E4X8, O02696, O15040, O75161, P59240, Q0VG06, Q14129, Q15013, Q1T7B8, Q1T7C0, Q24JP3, Q28HU3, Q32KQ7, Q3U6Q4, Q3UK37, Q3V3A7, Q3ZBK8, Q4R5A4, Q571B6, Q5F479, Q5RC14, Q5SW28, Q5T011, Q5UE93, Q6NVC9, Q6P4T1, Q6ZS81, Q8C0R7, Q8CC12, Q8IV45, Q8IWY9, Q8IXR5, Q8N9B5, Q8TC57, Q8TE82, Q8TF30, Q8WYR1

Diamond homologs: Q15013, Q9DCX1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PLK1	“down-regulates activity”	MAD2L1BP	phosphorylation
MAD2L1BP	“up-regulates activity”	TRIP13	binding
MAD2L1BP	“down-regulates quantity by destabilization”	MCC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	5	41.6×	1e-05
APC/C:Cdc20 mediated degradation of mitotic proteins	5	36.4×	1e-05
APC/C-mediated degradation of cell cycle proteins	5	34.3×	1e-05
Regulation of mitotic cell cycle	5	34.3×	1e-05
Regulation of APC/C activators between G1/S and early anaphase	5	31.5×	2e-05
Amplification of signal from the kinetochores	6	24.1×	1e-05
Mitotic Spindle Checkpoint	6	19.4×	2e-05
Cdc20:Phospho-APC/C mediated degradation of Cyclin A	5	17.7×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitotic spindle assembly checkpoint signaling	7	63.4×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

293 predictions. Top by Δscore:

Variant	Effect	Δscore
6:43635922:G:GG	donor_gain	1.0000
6:43635922:GT:G	donor_loss	1.0000
6:43635923:T:A	donor_loss	1.0000
6:43636372:A:AG	acceptor_gain	1.0000
6:43636373:T:G	acceptor_gain	1.0000
6:43636377:CCA:C	acceptor_loss	1.0000
6:43636378:CAG:C	acceptor_loss	1.0000
6:43636379:A:AG	acceptor_gain	1.0000
6:43636379:AGATT:A	acceptor_loss	1.0000
6:43636380:G:GT	acceptor_gain	1.0000
6:43636380:GAT:G	acceptor_gain	1.0000
6:43636380:GATTT:G	acceptor_gain	1.0000
6:43636533:G:GT	donor_gain	1.0000
6:43636534:A:T	donor_gain	1.0000
6:43636642:CCCAG:C	donor_loss	1.0000
6:43636644:CAGG:C	donor_loss	1.0000
6:43636646:GGTA:G	donor_loss	1.0000
6:43636648:T:A	donor_loss	1.0000
6:43640019:A:AG	acceptor_gain	1.0000
6:43640020:G:A	acceptor_loss	1.0000
6:43640020:G:GG	acceptor_gain	1.0000
6:43640020:GGC:G	acceptor_gain	1.0000
6:43640020:GGCA:G	acceptor_gain	1.0000
6:43636376:A:AG	acceptor_gain	0.9900
6:43636377:C:G	acceptor_gain	0.9900
6:43636380:GA:G	acceptor_gain	0.9900
6:43636380:GATT:G	acceptor_gain	0.9900
6:43640010:T:A	acceptor_gain	0.9900
6:43640017:A:AG	acceptor_gain	0.9900
6:43640018:C:G	acceptor_gain	0.9900

AlphaMissense

1778 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:43640492:T:A	W262R	0.997
6:43640492:T:C	W262R	0.997
6:43636584:C:A	R84S	0.992
6:43636585:G:C	R84P	0.991
6:43640495:T:C	F263L	0.990
6:43640497:C:A	F263L	0.990
6:43640497:C:G	F263L	0.990
6:43636549:T:C	F72S	0.989
6:43640160:T:C	L151P	0.989
6:43640496:T:C	F263S	0.989
6:43636513:T:C	F60S	0.988
6:43640494:G:C	W262C	0.987
6:43640494:G:T	W262C	0.987
6:43640190:C:A	P161H	0.986
6:43636568:G:C	K78N	0.985
6:43636568:G:T	K78N	0.985
6:43636594:T:C	L87P	0.985
6:43640289:T:A	I194K	0.985
6:43640385:T:C	F226S	0.985
6:43640346:T:A	V213D	0.984
6:43640436:T:A	V243E	0.982
6:43640163:T:C	I152T	0.981
6:43640201:T:G	Y165D	0.981
6:43640519:G:C	G271R	0.981
6:43636561:T:C	L76P	0.980
6:43640291:T:C	F195L	0.980
6:43640293:C:A	F195L	0.980
6:43640293:C:G	F195L	0.980
6:43640132:T:C	F142L	0.979
6:43640134:T:A	F142L	0.979

dbSNP variants (sampled 300 via entrez): RS1000023480 (6:43638366 A>G), RS1000083600 (6:43638112 G>A,C), RS1000518457 (6:43634570 CT>C,CTT), RS1001241494 (6:43638777 A>C,G,T), RS1001343988 (6:43632143 G>A), RS1001376300 (6:43631528 G>A), RS1002698286 (6:43632501 C>T), RS1002904305 (6:43635740 C>T), RS1003011798 (6:43637083 A>G), RS1003040701 (6:43629738 G>A), RS1003285933 (6:43634229 T>C), RS1003397886 (6:43638406 C>A,T), RS1004082385 (6:43640646 A>C,G,T), RS1004192661 (6:43640457 C>A,T), RS1004264055 (6:43628913 C>T)

Disease associations

OMIM: gene MIM:618136 | 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
GCST005956_58	Waist-to-hip ratio adjusted for BMI	7.000000e-26
GCST005957_1	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-14
GCST005958_2	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-19
GCST005962_2	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-31

EFO canonical traits (3, from GWAS)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
urushiol	decreases expression	1
arsenite	increases reaction, affects binding	1
cupric chloride	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
abrine	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Methotrexate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression, increases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Zinc	increases expression, affects cotreatment	1
Cyclosporine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B9VM	Abcam HeLa MAD2L1BP KO	Cancer cell line	Female

Clinical trials (associated diseases)

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