ATRN

Summary

ATRN (attractin, HGNC:885) is a protein-coding gene on chromosome 20p13, encoding Attractin (O75882). Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines.

This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines.

Source: NCBI Gene 8455 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 512 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_139321

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:885
Approved symbol	ATRN
Name	attractin
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	DPPT-L, MGCA
Ensembl gene	ENSG00000088812
Ensembl biotype	protein_coding
OMIM	603130
Entrez	8455

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000262919, ENST00000446916, ENST00000928835

RefSeq mRNA: 4 — MANE Select: NM_139321 NM_001207047, NM_001323332, NM_139321, NM_139322

CCDS: CCDS13053, CCDS13054

Canonical transcript exons

ENST00000262919 — 29 exons

Exon	Start	End
ENSE00000562024	3591169	3591306
ENSE00000562025	3594479	3594572
ENSE00000562028	3600946	3601024
ENSE00000562033	3644154	3644268
ENSE00000562042	3576859	3576997
ENSE00000562044	3582135	3582354
ENSE00000656887	3535253	3535336
ENSE00000656952	3545762	3545890
ENSE00000657200	3563209	3563363
ENSE00000657222	3565348	3565432
ENSE00000657223	3572731	3572951
ENSE00000657470	3583898	3584083
ENSE00000657652	3597906	3598000
ENSE00000657835	3624511	3624572
ENSE00000657839	3638828	3638935
ENSE00000858775	3540222	3540335
ENSE00000858778	3547284	3547489
ENSE00000858779	3549170	3549338
ENSE00000858780	3559393	3559483
ENSE00000858781	3560662	3560905
ENSE00000858782	3562276	3562459
ENSE00000858786	3575827	3575948
ENSE00000858788	3578582	3578772
ENSE00000858791	3584647	3584880
ENSE00000858794	3596377	3596429
ENSE00001353751	3646723	3651118
ENSE00001679578	3634311	3634389
ENSE00001838072	3471018	3471517
ENSE00002715289	3604105	3604262

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 94.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7406 / max 145.2724, expressed in 1804 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183212	17.6191	1801
183210	1.1268	693
183213	0.7531	417
183211	0.2416	69

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	94.42	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.25	gold quality
stromal cell of endometrium	CL:0002255	93.38	gold quality
orbitofrontal cortex	UBERON:0004167	93.32	gold quality
jejunal mucosa	UBERON:0000399	92.89	gold quality
subthalamic nucleus	UBERON:0001906	92.41	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.22	gold quality
islet of Langerhans	UBERON:0000006	92.16	gold quality
superior vestibular nucleus	UBERON:0007227	92.07	gold quality
lateral globus pallidus	UBERON:0002476	92.00	gold quality
pons	UBERON:0000988	91.44	gold quality
substantia nigra pars compacta	UBERON:0001965	91.33	gold quality
type B pancreatic cell	CL:0000169	91.31	silver quality
Brodmann (1909) area 46	UBERON:0006483	91.31	gold quality
olfactory bulb	UBERON:0002264	91.17	silver quality
substantia nigra pars reticulata	UBERON:0001966	91.10	gold quality
inferior vagus X ganglion	UBERON:0005363	91.03	gold quality
renal medulla	UBERON:0000362	90.65	gold quality
adrenal tissue	UBERON:0018303	90.62	gold quality
CA1 field of hippocampus	UBERON:0003881	90.57	gold quality
ventral tegmental area	UBERON:0002691	90.53	gold quality
jejunum	UBERON:0002115	90.43	gold quality
medulla oblongata	UBERON:0001896	90.30	gold quality
middle temporal gyrus	UBERON:0002771	90.13	gold quality
liver	UBERON:0002107	89.47	gold quality
cortical plate	UBERON:0005343	89.44	gold quality
parietal lobe	UBERON:0001872	89.24	gold quality
trigeminal ganglion	UBERON:0001675	89.09	gold quality
cardia of stomach	UBERON:0001162	89.08	gold quality
superior frontal gyrus	UBERON:0002661	89.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

313 targeting ATRN, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4514	99.99	67.10	1870

Literature-anchored findings (GeneRIF, showing 10)

• The product of the murine “Mahogany” gene controls energy metabolism and is the murine orthologof human membrane attractin. (PMID:10086355)
• The product of the murine “Mahogany” locus, controlling agouti-mediated melanocyte pigmentation and control of energy metabolism, is the murine ortholog of human attractin. (PMID:10086356)
• Provides the genomic basis for production of a soluble and membrane form of attractin by alternative splicing. In the process, by sequencing from positionally-determined BAC clones, confirms the localization of attractin to chromosome 20p13. (PMID:10811918)
• This protein is isolated from human blood and characterized. (PMID:12675230)
• It is the first time expression of attractin on monocytes and provide first data suggesting that drugs directed to DP IV-like enzyme activity could affect monocyte function via attractin inhibition. (PMID:16835316)
• associated with spermatozoa (PMID:19535787)
• The levels of both dipeptidyl-peptidase 4 and attractin in circulating monocytes were significantly higher in obese subjects as compared with levels in lean controls or in subjects with type 2 diabetes. (PMID:20198559)
• Data indicate that Attractin was involved in male reproduction in both human and BALB/c mice, but it exerted a different expression profile in different species. (PMID:25318887)
• ATRN encodes Attractin, which was previously shown to play a critical role in central myelination (PMID:28493104)
• Through use of PCR from hamster-human somatic cell hybrids, localizes the EST AB011120 (KIAA0548) to human chromosome 20p13. AB011120 encodes the central to 3’ UTR of the membrane form of human attractin. (PMID:9628581)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	atrn	ENSDARG00000062164
mus_musculus	Atrn	ENSMUSG00000027312
rattus_norvegicus	Atrn	ENSRNOG00000021240

Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Attractin — O75882 (reviewed: O75882)

Alternative names: DPPT-L, Mahogany homolog

All UniProt accessions (1): O75882

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti. Has a critical role in normal myelination in the central nervous system.

Subunit / interactions. Monomer and homotrimer.

Subcellular location. Cell membrane Secreted Secreted.

Tissue specificity. Isoform 2 is detected in plasma (at protein level). Expressed and secreted by activated T-lymphocytes. Expressed at low to moderate levels in peripheral blood leukocytes, spleen, lymph node, tonsil, bone marrow and fetal liver. At very low levels found in thymus. Isoform 2 is the major isoform in peripheral blood leukocytes.

Post-translational modifications. Heavily glycosylated.

Induction. Activation of peripheral blood leukocytes with phytohemagglutinin induces strong expression of the membrane isoform followed by the release of the secreted isoform.

Isoforms (3)

UniProt ID	Names	Canonical?
O75882-1	1, Membrane	yes
O75882-2	2, Secreted
O75882-3	3

RefSeq proteins (4): NP_001193976, NP_001310261, NP_647537, NP_647538 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000742	EGF	Domain
IPR000859	CUB_dom	Domain
IPR001304	C-type_lectin-like	Domain
IPR002049	LE_dom	Domain
IPR002165	Plexin_repeat	Repeat
IPR011043	Gal_Oxase/kelch_b-propeller	Homologous_superfamily
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR016201	PSI	Domain
IPR034011	Attractin-like_CTLD	Domain
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR051568	LZTR1/Attractin	Family
IPR056732	GBD_ATRN	Domain
IPR056737	Beta-prop_ATRN-MKLN-like	Domain
IPR056863	LMN_ATRN_NET-like_EGF	Domain

Pfam: PF00431, PF01437, PF23106, PF24972, PF24973, PF24981

UniProt features (72 total): glycosylation site 26, disulfide bond 13, domain 9, repeat 6, sequence conflict 6, sequence variant 4, topological domain 2, splice variant 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75882-F1	79.27	0.31

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (13): 101–111, 105–118, 120–129, 250–260, 254–271, 273–282, 816–918, 1063–1071, 1065–1077, 1080–1089, 1092–1106, 1127–1137, 1140–1155

Glycosylation sites (26): 213, 237, 242, 253, 264, 300, 325, 362, 383, 416, 428, 575, 623, 731, 863, 914, 923, 986, 1043, 1054 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 223 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_HINDBRAIN_DEVELOPMENT, GCM_MAP4K4, RRAGTTGT_UNKNOWN, TAATAAT_MIR126, GOBP_METENCEPHALON_DEVELOPMENT, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, MODULE_255, GOBP_INFLAMMATORY_RESPONSE, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_317

GO Biological Process (5): inflammatory response (GO:0006954), cerebellum development (GO:0021549), regulation of multicellular organism growth (GO:0040014), myelination (GO:0042552), pigmentation (GO:0043473)

GO Molecular Function (3): carbohydrate binding (GO:0030246), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (6): obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
defense response	1
metencephalon development	1
anatomical structure development	1
multicellular organism growth	1
regulation of developmental growth	1
regulation of multicellular organismal process	1
axon ensheathment	1
biological_process	1
molecular transducer activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

966 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATRN	MGRN1	O60291	962
ATRN	MC4R	P32245	868
ATRN	ASIP	P42127	805
ATRN	MC1R	Q01726	763
ATRN	DPP4	P27487	710
ATRN	CPE	P16870	678
ATRN	AGRP	O00253	614
ATRN	AZGP1	P25311	572
ATRN	TYR	P14679	489
ATRN	CA8	P35219	476
ATRN	SLC24A5	Q71RS6	476
ATRN	CA5B	Q9Y2D0	475
ATRN	PCED1A	Q9H1Q7	450
ATRN	CA13	Q8N1Q1	448
ATRN	CA14	Q9ULX7	447

IntAct

82 interactions, top by confidence:

A	B	Type	Score
ANKRD46	ATRN	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
MGRN1	ATRN	psi-mi:“MI:0914”(association)	0.530
DLK1	SCAMP3	psi-mi:“MI:0914”(association)	0.530
SMPD1	CLGN	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
DHDH	ATRN	psi-mi:“MI:0914”(association)	0.530
	ESYT2	psi-mi:“MI:0914”(association)	0.350
ANKRD46	NBAS	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
BTNL8	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
IGFL3	CBX4	psi-mi:“MI:0914”(association)	0.350
PATE1	MANBA	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
DEFB135	MANBA	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
MANEA	AGRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (87): ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-RNA), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-MS), ATRN (Affinity Capture-RNA), ATRN (Proximity Label-MS), ATRN (Proximity Label-MS), ATRN (Proximity Label-MS), ATRN (Proximity Label-MS), ATRN (Proximity Label-MS)

ESM2 similar proteins: A0A1D5PUP4, A5YT95, O35757, O62650, O75882, O95980, P07225, P09858, P10669, P17247, P19883, P21214, P21674, P26012, P26013, P27090, P30371, P31514, P31515, P47931, P49767, P50291, P61811, P61812, P97299, P97953, Q07257, Q0VBD0, Q17QD6, Q38L25, Q5RA73, Q6NW40, Q6V9H4, Q6ZQ11, Q863H1, Q86X52, Q8BFR2, Q8CI19, Q8JG54, Q8N475

Diamond homologs: A0A096LNW5, A2RUV0, B4DH59, B8JI71, G3I6Z6, O35516, O75882, P07207, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, P98160, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q99466, Q99J86, Q9QW30, Q9UM47, Q9WU60, A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O95631, P02468, P11047, P15215, P19137, P24043

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ASIP	up-regulates	ATRN	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	292
Likely benign	148
Benign	33

Top pathogenic / likely-pathogenic (0)

SpliceAI

4398 predictions. Top by Δscore:

Variant	Effect	Δscore
20:3471519:T:A	donor_loss	1.0000
20:3535252:GACT:G	acceptor_gain	1.0000
20:3535252:GACTA:G	acceptor_gain	1.0000
20:3535332:GGACA:G	donor_gain	1.0000
20:3535333:GACA:G	donor_gain	1.0000
20:3535333:GACAG:G	donor_gain	1.0000
20:3535334:ACA:A	donor_gain	1.0000
20:3535335:CA:C	donor_gain	1.0000
20:3535337:G:GG	donor_gain	1.0000
20:3536816:G:GG	donor_gain	1.0000
20:3545760:A:AG	acceptor_gain	1.0000
20:3545761:G:GG	acceptor_gain	1.0000
20:3545761:GT:G	acceptor_gain	1.0000
20:3547280:A:AG	acceptor_gain	1.0000
20:3547281:C:G	acceptor_gain	1.0000
20:3547282:A:AG	acceptor_gain	1.0000
20:3547283:G:GT	acceptor_gain	1.0000
20:3547283:GT:G	acceptor_gain	1.0000
20:3547283:GTT:G	acceptor_gain	1.0000
20:3547283:GTTT:G	acceptor_gain	1.0000
20:3547283:GTTTT:G	acceptor_gain	1.0000
20:3547485:GCAGG:G	donor_gain	1.0000
20:3547486:CAGGG:C	donor_loss	1.0000
20:3547488:GG:G	donor_gain	1.0000
20:3547489:GG:G	donor_gain	1.0000
20:3547490:G:GG	donor_gain	1.0000
20:3547490:G:T	donor_gain	1.0000
20:3549168:A:AG	acceptor_gain	1.0000
20:3549168:A:C	acceptor_loss	1.0000
20:3549169:G:GG	acceptor_gain	1.0000

AlphaMissense

9462 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:3471479:G:C	W124C	1.000
20:3471479:G:T	W124C	1.000
20:3535314:T:A	C158S	1.000
20:3535314:T:C	C158R	1.000
20:3535315:G:C	C158S	1.000
20:3535316:C:G	C158W	1.000
20:3535320:T:A	W160R	1.000
20:3535320:T:C	W160R	1.000
20:3535322:G:C	W160C	1.000
20:3535322:G:T	W160C	1.000
20:3540268:T:A	C181S	1.000
20:3540268:T:C	C181R	1.000
20:3540269:G:A	C181Y	1.000
20:3540269:G:C	C181S	1.000
20:3540270:T:G	C181W	1.000
20:3540274:T:A	W183R	1.000
20:3540274:T:C	W183R	1.000
20:3540276:G:C	W183C	1.000
20:3540276:G:T	W183C	1.000
20:3540277:G:C	D184H	1.000
20:3540278:A:C	D184A	1.000
20:3540278:A:G	D184G	1.000
20:3540278:A:T	D184V	1.000
20:3545847:A:C	S232R	1.000
20:3545848:G:T	S232I	1.000
20:3545849:T:A	S232R	1.000
20:3545849:T:G	S232R	1.000
20:3545851:A:T	D233V	1.000
20:3545875:T:C	F241S	1.000
20:3563330:T:C	C585R	1.000

dbSNP variants (sampled 300 via entrez): RS1000019966 (20:3603554 A>G), RS1000030956 (20:3554573 A>G), RS1000091321 (20:3602217 C>T), RS1000109581 (20:3576012 G>A,T), RS1000111244 (20:3550294 C>G,T), RS1000121410 (20:3597111 C>A,G,T), RS1000131881 (20:3551006 G>A), RS1000149737 (20:3532669 A>G), RS1000180127 (20:3597417 TA>T), RS1000189269 (20:3506005 G>A,T), RS1000190675 (20:3643272 C>G,T), RS1000205229 (20:3492861 GCGCGCGTGCGCACGCA>G), RS1000212486 (20:3519054 T>C), RS1000226604 (20:3594410 G>A,T), RS1000230911 (20:3543776 T>TA)

Disease associations

OMIM: gene MIM:603130 | disease phenotypes: MIM:209850, MIM:613850

GenCC curated gene-disease

Mondo (3): thrombocytopenia (MONDO:0002049), autism (MONDO:0005260), inosine triphosphatase deficiency (MONDO:0013461)

Orphanet (1): NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency (Orphanet:319684)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002875_53	Diisocyanate-induced asthma	1.000000e-06
GCST003542_159	Night sleep phenotypes	8.000000e-06
GCST004611_156	High light scatter reticulocyte count	8.000000e-10
GCST004619_142	Reticulocyte fraction of red cells	5.000000e-11
GCST004622_82	Reticulocyte count	1.000000e-12
GCST005212_27	Asthma	7.000000e-06
GCST009215_7	Postcentral gyrus volume	3.000000e-07
GCST90002385_524	High light scatter reticulocyte count	1.000000e-23
GCST90002386_220	High light scatter reticulocyte percentage of red cells	4.000000e-25
GCST90002393_679	Monocyte count	4.000000e-11
GCST90002405_437	Reticulocyte count	3.000000e-23
GCST90002406_540	Reticulocyte fraction of red cells	5.000000e-20

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0007986	reticulocyte count
EFO:0005091	monocyte count

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
C564127	Inosine Triphosphatase Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Ozone	increases abundance, decreases expression, affects expression	2
Valproic Acid	decreases expression, affects expression	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
deoxynivalenol	decreases expression	1
titanium dioxide	decreases methylation	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	decreases secretion	1
manganese chloride	decreases expression, increases abundance	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	decreases expression	1
(+)-JQ1 compound	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Asbestos	affects expression	1
Benzene	increases expression	1
Manganese	decreases expression, increases abundance	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Cyclosporine	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
beta-Naphthoflavone	decreases expression	1
Acrylamide	decreases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine