MCTP2

Summary

MCTP2 (multiple C2 and transmembrane domain containing 2, HGNC:25636) is a protein-coding gene on chromosome 15q26.2, encoding Multiple C2 and transmembrane domain-containing protein 2 (Q6DN12). Might play a role in the development of cardiac outflow tract.

Enables calcium ion binding activity. Predicted to be involved in regulation of neurotransmitter secretion. Located in cytosol; membrane; and nucleoplasm.

Source: NCBI Gene 55784 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital heart defects, multiple types (Limited, GenCC)
• GWAS associations: 36
• Clinical variants (ClinVar): 253 total
• Phenotypes (HPO): 59
• MANE Select transcript: NM_001385001

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25636
Approved symbol	MCTP2
Name	multiple C2 and transmembrane domain containing 2
Location	15q26.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11175, FLJ33303
Ensembl gene	ENSG00000140563
Ensembl biotype	protein_coding
OMIM	616297
Entrez	55784

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000357742, ENST00000449432, ENST00000451018, ENST00000456504, ENST00000543482, ENST00000556363, ENST00000557505, ENST00000557742, ENST00000561608, ENST00000908511, ENST00000908512, ENST00000908513, ENST00000908514, ENST00000908515, ENST00000908516, ENST00000961976

RefSeq mRNA: 14 — MANE Select: NM_001385001 NM_001159643, NM_001159644, NM_001385001, NM_001385002, NM_001385003, NM_001385004, NM_001385005, NM_001385006, NM_001385007, NM_001385008, NM_001385009, NM_001385010, NM_001385011, NM_018349

CCDS: CCDS32338, CCDS53975, CCDS53976

Canonical transcript exons

ENST00000357742 — 23 exons

Exon	Start	End
ENSE00002296294	94478966	94483952
ENSE00003463484	94314282	94314344
ENSE00003486146	94398961	94399062
ENSE00003487838	94298201	94298730
ENSE00003498477	94440176	94440298
ENSE00003511325	94385423	94385525
ENSE00003517808	94340199	94340275
ENSE00003527926	94470333	94470442
ENSE00003551329	94476696	94476793
ENSE00003555954	94340813	94340924
ENSE00003565974	94401900	94402019
ENSE00003575583	94367605	94367791
ENSE00003592346	94358482	94358612
ENSE00003597289	94356137	94356301
ENSE00003597839	94442919	94442960
ENSE00003612231	94345129	94345164
ENSE00003624663	94458137	94458246
ENSE00003650587	94370087	94370180
ENSE00003651632	94399921	94399995
ENSE00003653835	94315529	94315637
ENSE00003684666	94339290	94339432
ENSE00003690804	94384022	94384124
ENSE00003930371	94231561	94231664

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 95.16.

FANTOM5 (CAGE): breadth broad, TPM avg 10.1102 / max 890.6083, expressed in 910 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148676	8.8029	859
148674	0.4226	123
148675	0.3025	110
148673	0.1623	77
148681	0.1139	35
148684	0.0881	16
148677	0.0635	24
148685	0.0547	16
148687	0.0439	16
148680	0.0394	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	95.16	gold quality
secondary oocyte	CL:0000655	94.80	gold quality
buccal mucosa cell	CL:0002336	94.27	gold quality
blood	UBERON:0000178	93.61	gold quality
visceral pleura	UBERON:0002401	93.36	gold quality
oocyte	CL:0000023	92.00	gold quality
pleura	UBERON:0000977	91.02	gold quality
parietal pleura	UBERON:0002400	90.82	gold quality
spleen	UBERON:0002106	90.74	gold quality
bone marrow	UBERON:0002371	90.31	gold quality
bone marrow cell	CL:0002092	89.63	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.47	gold quality
colonic mucosa	UBERON:0000317	88.79	gold quality
epithelial cell of pancreas	CL:0000083	88.40	gold quality
rectum	UBERON:0001052	87.97	gold quality
parotid gland	UBERON:0001831	87.25	gold quality
colonic epithelium	UBERON:0000397	87.05	gold quality
right lung	UBERON:0002167	86.08	gold quality
upper lobe of left lung	UBERON:0008952	85.73	gold quality
upper lobe of lung	UBERON:0008948	85.22	gold quality
granulocyte	CL:0000094	84.91	gold quality
epithelium of nasopharynx	UBERON:0001951	84.33	gold quality
trabecular bone tissue	UBERON:0002483	84.32	gold quality
tonsil	UBERON:0002372	84.19	gold quality
jejunal mucosa	UBERON:0000399	83.96	gold quality
lung	UBERON:0002048	83.12	gold quality
islet of Langerhans	UBERON:0000006	82.81	gold quality
pancreas	UBERON:0001264	82.37	gold quality
right uterine tube	UBERON:0001302	81.85	gold quality
type B pancreatic cell	CL:0000169	81.71	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	36.14
E-MTAB-6678	yes	31.00
E-CURD-46	yes	19.27
E-ANND-3	yes	11.94
E-MTAB-6386	no	618.98
E-MTAB-7249	no	308.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

209 targeting MCTP2, 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-3613-3P	100.00	76.36	7965
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 7)

• MCTPs are evolutionarily conserved C2 domain proteins that are unusual in that the C2 domains are anchored in the membrane by two closely spaced transmembrane regions and represent Ca(2+)-binding but not phospholipid-binding modules (PMID:15528213)
• The present study suggested that MCPT2 gene as aputative susceptibility gene for schizophrenia of Scandinavian origin. (PMID:19223264)
• Results identify MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations. (PMID:23773997)
• Circular RNA MCTP2 inhibits cisplatin resistance in gastric cancer by miR-99a-5p-mediated induction of MTMR3 expression. (PMID:33198772)
• Multiple C2 domain-containing transmembrane proteins promote lipid droplet biogenesis and growth at specialized endoplasmic reticulum subdomains. (PMID:33826368)
• CircMCTP2 enhances the progression of bladder cancer by regulating the miR-99a-5p/FZD8 axis. (PMID:38494582)
• Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia). (PMID:38547502)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mctp2a	ENSDARG00000001414
danio_rerio	mctp2b	ENSDARG00000073970
mus_musculus	Mctp2	ENSMUSG00000032776
rattus_norvegicus	Mctp2	ENSRNOG00000009932
drosophila_melanogaster	Mctp	FBGN0034389
caenorhabditis_elegans	mctp-1	WBGENE00017063

Paralogs (1): MCTP1 (ENSG00000175471)

Protein

Protein identifiers

Multiple C2 and transmembrane domain-containing protein 2 — Q6DN12 (reviewed: Q6DN12)

All UniProt accessions (2): Q6DN12, F5H415

UniProt curated annotations — full annotation on UniProt →

Function. Might play a role in the development of cardiac outflow tract.

Subcellular location. Membrane.

Disease relevance. Heterozygosity for a 2.2-Mb deletion at chromosome 15q26.2, encompassing MCTP2, has been identified in a 10-year-old girl and her 3-year-old half brother, who had both coarctation of the aorta associated with dysmorphic features and ventricular septal defects. An intragenic MCTP2 duplication, leading to premature truncation (F697X) within the first transmembrane region of the protein, has also been observed in a male patient with a non-syndromic complex cardiac malformation involving coarctation, hypoplastic left heart, mitral atresia, bicuspid aortic valve and muscular ventricular septal defect. Although the link between left ventricular outflow tract malformations and MCTP2 could not be established, it has been proposed that defects in the MCTP2 gene may contribute to phenotype. This hypothesis is supported by the observation that Xenopus laevis embryos treated with MCTP2 morpholinos show no evidence of endocardial cushion formation at any level of the developing outflow tract.

Cofactor. Binds Ca(2+) via the C2 domains in absence of phospholipids.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the MCTP family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6DN12-1	1	yes
Q6DN12-2	2
Q6DN12-3	3
Q6DN12-4	4
Q6DN12-6	5

RefSeq proteins (14): NP_001153115, NP_001153116, NP_001371930, NP_001371931, NP_001371932, NP_001371933, NP_001371934, NP_001371935, NP_001371936, NP_001371937, NP_001371938, NP_001371939, NP_001371940, NP_060819 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR013583	MCTP_C	Domain
IPR035892	C2_domain_sf	Homologous_superfamily

Pfam: PF00168, PF08372

UniProt features (52 total): binding site 16, strand 9, sequence variant 8, splice variant 6, domain 3, transmembrane region 2, sequence conflict 2, region of interest 2, compositionally biased region 2, chain 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EP6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6DN12-F1	68.73	0.16

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 (16): 210; 210; 216; 263; 263; 265; 265; 270; 525; 525; 531; 577 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 408 (showing top): GOBP_NEUROTRANSMITTER_TRANSPORT, CHANDRAN_METASTASIS_DN, GOBP_CELL_CELL_SIGNALING, CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP, GOBP_REGULATION_OF_NEUROTRANSMITTER_TRANSPORT, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, GOBP_SYNAPTIC_SIGNALING, AFP1_Q6, GOBP_REGULATION_OF_TRANSPORT, AP4_01, MULLIGHAN_MLL_SIGNATURE_2_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_EXOCYTIC_VESICLE, GOCC_SECRETORY_VESICLE

GO Biological Process (2): calcium-mediated signaling (GO:0019722), regulation of neurotransmitter secretion (GO:0046928)

GO Molecular Function (2): calcium ion binding (GO:0005509), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytosol (GO:0005829), membrane (GO:0016020), synaptic vesicle membrane (GO:0030672), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular signaling cassette	1
neurotransmitter secretion	1
modulation of chemical synaptic transmission	1
regulation of neurotransmitter transport	1
regulation of secretion by cell	1
metal ion binding	1
cation binding	1
nuclear lumen	1
cytoplasm	1
synaptic vesicle	1
exocytic vesicle membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MCTP2	RGMA	Q96B86	580
MCTP2	FRMPD1	Q5SYB0	560
MCTP2	OR6C75	A6NL08	511
MCTP2	ANO4	Q32M45	500
MCTP2	ZNF573	Q86YE8	491
MCTP2	AFF3	P51826	477
MCTP2	TMEM182	Q6ZP80	472
MCTP2	CPNE5	Q9HCH3	469
MCTP2	NCALD	P29554	463
MCTP2	TMEM51	Q9NW97	458
MCTP2	M0QYG6	M0QYG6	448
MCTP2	RAB28	P51157	444
MCTP2	PRDM15	P57071	431
MCTP2	UNC80	Q8N2C7	430
MCTP2	CMC2	Q9NRP2	426
MCTP2	TP53I11	O14683	426

IntAct

6 interactions, top by confidence:

A	B	Type	Score
PRICKLE3	TUBG1	psi-mi:“MI:0914”(association)	0.530
MYC		psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC9A3	ESYT3	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): MCTP2 (Affinity Capture-RNA), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Affinity Capture-MS), MCTP2 (Proximity Label-MS), MCTP2 (Affinity Capture-RNA), APP (Reconstituted Complex)

ESM2 similar proteins: A0A8I3NFE2, A0FGR8, A0FGR9, A2AP18, A4IJ05, O08625, O08874, O15357, O75038, P51432, P70218, P70268, Q01970, Q12851, Q3TZZ7, Q3U7R1, Q4VX76, Q5DTI8, Q5FWL4, Q5M7N9, Q5R8Q5, Q5RAG2, Q5RCK6, Q5RJH2, Q61161, Q62807, Q63433, Q6DN12, Q6XYQ8, Q7ZWU7, Q812E4, Q86SS6, Q8K394, Q8TDW5, Q920M7, Q925C0, Q92918, Q99JE6, Q99N48, Q9BSJ8

Diamond homologs: A0A075F932, A0FGR8, A0FGR9, A1ZBD6, A8KBH6, D4ABL6, K8FE10, O00443, O00750, O08835, O35681, O43581, P13677, P21521, P21579, P21707, P24506, P24507, P27715, P29101, P34693, P40748, P40749, P41823, P41885, P46096, P46097, P47191, P47708, P47709, P48018, P50232, P70169, P70610, P97610, Q06846, Q14183, Q14184, Q15811, Q3TZZ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	175
Likely benign	39
Benign	19

Top pathogenic / likely-pathogenic (0)

SpliceAI

4249 predictions. Top by Δscore:

Variant	Effect	Δscore
15:94298728:GAG:G	donor_gain	1.0000
15:94298729:AGG:A	donor_loss	1.0000
15:94298730:GGT:G	donor_loss	1.0000
15:94298731:G:GG	donor_gain	1.0000
15:94298731:GTG:G	donor_loss	1.0000
15:94298732:T:G	donor_loss	1.0000
15:94314277:TGCA:T	acceptor_loss	1.0000
15:94314278:GCAGA:G	acceptor_loss	1.0000
15:94314280:A:AG	acceptor_gain	1.0000
15:94314280:A:T	acceptor_loss	1.0000
15:94314281:G:GT	acceptor_gain	1.0000
15:94314281:GA:G	acceptor_gain	1.0000
15:94314281:GAA:G	acceptor_gain	1.0000
15:94314281:GAAGC:G	acceptor_gain	1.0000
15:94314341:ATCT:A	donor_gain	1.0000
15:94314342:TCT:T	donor_gain	1.0000
15:94314345:G:GG	donor_gain	1.0000
15:94315523:GTGCA:G	acceptor_loss	1.0000
15:94315524:TGCA:T	acceptor_loss	1.0000
15:94315525:GCAG:G	acceptor_loss	1.0000
15:94315526:CA:C	acceptor_loss	1.0000
15:94315527:A:AT	acceptor_loss	1.0000
15:94315528:G:A	acceptor_loss	1.0000
15:94315635:GTG:G	donor_gain	1.0000
15:94315637:GGTA:G	donor_loss	1.0000
15:94315638:G:GG	donor_gain	1.0000
15:94315638:GTAAG:G	donor_loss	1.0000
15:94315639:TAAGA:T	donor_loss	1.0000
15:94339421:C:G	donor_gain	1.0000
15:94340193:TTGTA:T	acceptor_loss	1.0000

AlphaMissense

5816 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:94339343:A:C	S231R	1.000
15:94339345:T:A	S231R	1.000
15:94339345:T:G	S231R	1.000
15:94339376:T:A	W242R	1.000
15:94339376:T:C	W242R	1.000
15:94339378:G:C	W242C	1.000
15:94339378:G:T	W242C	1.000
15:94384105:T:A	W556R	1.000
15:94384105:T:C	W556R	1.000
15:94315587:T:C	L196P	0.999
15:94315593:T:A	I198K	0.999
15:94315599:T:C	L200P	0.999
15:94315607:G:C	G203R	0.999
15:94315617:T:A	L206Q	0.999
15:94315617:T:C	L206P	0.999
15:94315626:G:C	R209P	0.999
15:94339295:A:C	S215R	0.999
15:94339297:T:A	S215R	0.999
15:94339297:T:G	S215R	0.999
15:94339299:A:G	D216G	0.999
15:94339302:C:A	P217H	0.999
15:94339302:C:G	P217R	0.999
15:94339308:T:A	V219E	0.999
15:94339314:T:C	F221S	0.999
15:94339344:G:T	S231I	0.999
15:94339371:C:A	P240Q	0.999
15:94339377:G:C	W242S	0.999
15:94340235:G:C	G273R	0.999
15:94340836:T:C	L294P	0.999
15:94340868:G:A	G305R	0.999

dbSNP variants (sampled 300 via entrez): RS1000002962 (15:94353834 T>G), RS1000016296 (15:94314858 C>A,T), RS1000048926 (15:94241155 T>A), RS1000055947 (15:94353055 TTCTA>T), RS1000066548 (15:94317876 T>C), RS1000067610 (15:94389683 G>A,C), RS1000090378 (15:94349939 T>A,C), RS1000098779 (15:94318153 A>C), RS1000105124 (15:94464768 C>G), RS1000113192 (15:94286397 G>A,T), RS1000113663 (15:94427536 T>G), RS1000115191 (15:94309196 T>C), RS1000116374 (15:94448812 C>G), RS1000124032 (15:94418413 G>A), RS1000135146 (15:94312146 G>A)

Disease associations

OMIM: gene MIM:616297 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital heart defects, multiple types	Limited	Autosomal dominant

Mondo (1): congenital heart defects, multiple types (MONDO:0000119)

Orphanet (0):

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000325	Triangular face
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000455	Broad nasal tip
HP:0000476	Cystic hygroma
HP:0000486	Strabismus
HP:0000581	Blepharophimosis
HP:0000582	Upslanted palpebral fissure
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000776	Congenital diaphragmatic hernia
HP:0000954	Single transverse palmar crease
HP:0001195	Single umbilical artery
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001511	Intrauterine growth retardation

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST000415_6	Drug-induced liver injury (flucloxacillin)	4.000000e-06
GCST000579_12	Cognitive performance	3.000000e-06
GCST001099_7	Sudden cardiac arrest	3.000000e-06
GCST001688_2	Type 1 diabetes nephropathy	2.000000e-09
GCST001840_6	Stearic acid (18:0) levels	4.000000e-06
GCST002156_5	Response to mTOR inhibitor (rapamycin)	5.000000e-06
GCST002306_16	Bipolar disorder (body mass index interaction)	1.000000e-06
GCST002570_2	Overweight status	2.000000e-07
GCST002625_4	Chronic bronchitis and chronic obstructive pulmonary disease	5.000000e-07
GCST002759_23	Motion sickness	2.000000e-09
GCST002761_1	Hippocampal volume	5.000000e-07
GCST002783_116	Body mass index	1.000000e-06
GCST002783_138	Body mass index	2.000000e-07
GCST002783_325	Body mass index	8.000000e-08
GCST002938_32	Copper levels	6.000000e-06
GCST003013_32	White matter hyperintensity burden	4.000000e-07
GCST003542_10	Night sleep phenotypes	6.000000e-06
GCST004351_20	Bone ultrasound measurement (broadband ultrasound attenuation)	2.000000e-07
GCST005787_12	Heart rate response to exercise	4.000000e-13
GCST005787_17	Heart rate response to exercise	2.000000e-11
GCST005788_11	Heart rate response to recovery post exercise	5.000000e-09
GCST005845_10	Heart rate increase in response to exercise	3.000000e-14
GCST005848_5	Heart rate response to recovery post exercise (50 sec)	3.000000e-09
GCST006625_2	Neonatal cytokine/chemokine levels (maternal genetic effect)	1.000000e-08
GCST006992_4	Cerebrospinal fluid p-tau levels in Alzheimer’s disease dementia	1.000000e-07
GCST007094_80	Diastolic blood pressure	1.000000e-10
GCST008154_61	Trunk fat mass	5.000000e-06
GCST008708_4	Chronic mountain sickness	6.000000e-06
GCST010002_105	Refractive error	1.000000e-11
GCST010219_17	Attention deficit hyperactivity disorder (inattention symptoms)	4.000000e-08

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0004278	sudden cardiac arrest
EFO:0005417	response to mTOR inhibitor
EFO:0004340	body mass index
EFO:0005935	overweight body mass index status
EFO:0006928	motion sickness
EFO:0005035	hippocampal volume
EFO:0005665	white matter hyperintensity measurement
EFO:0004514	bone quantitative ultrasound measurement
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0004747	protein measurement
EFO:0005939	parental genotype effect measurement
EFO:0009418	CCL24 measurement
EFO:0004763	p-tau measurement
EFO:0006336	diastolic blood pressure
EFO:0010143	chronic mountain sickness
EFO:0004327	electrocardiography
EFO:0008336	disease progression measurement
EFO:0004501	HOMA-IR
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, increases expression	4
sulforaphane	decreases expression, increases expression	2
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Aflatoxin B1	increases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
trichostatin A	increases expression	1
potassium chromate(VI)	increases expression	1
nickel sulfate	increases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
NSC 689534	decreases expression, affects binding	1
Fulvestrant	decreases methylation, affects cotreatment	1
Vorinostat	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Caffeine	decreases phosphorylation	1
Copper	decreases expression, affects binding	1
Diethylhexyl Phthalate	increases expression	1
Formaldehyde	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methotrexate	decreases expression	1
Nickel	increases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C7RF	GDSRMi001-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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