MILR1

Summary

MILR1 (mast cell immunoglobulin like receptor 1, HGNC:27570) is a protein-coding gene on chromosome 17q23.3, encoding Allergin-1 (Q7Z6M3). Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. It is a selective cancer dependency (DepMap: 20.3% of cell lines).

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane.

Source: NCBI Gene 284021 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 499 total — 20 pathogenic, 9 likely-pathogenic
• Cancer dependency (DepMap): dependent in 20.3% of screened cell lines
• MANE Select transcript: NM_001085423

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27570
Approved symbol	MILR1
Name	mast cell immunoglobulin like receptor 1
Location	17q23.3
Locus type	gene with protein product
Status	Approved
Aliases	Allergin-1, MCA-32
Ensembl gene	ENSG00000271605
Ensembl biotype	protein_coding
Entrez	284021

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 non_stop_decay

ENST00000605096, ENST00000612535, ENST00000615220, ENST00000616498, ENST00000617071, ENST00000619286, ENST00000620304, ENST00000718366, ENST00000718367, ENST00000718368

RefSeq mRNA: 4 — MANE Select: NM_001085423 NM_001085423, NM_001291316, NM_001291317, NM_001369493

CCDS: CCDS74133, CCDS77087, CCDS77088

Canonical transcript exons

ENST00000619286 — 10 exons

Exon	Start	End
ENSE00003632313	64468310	64468643
ENSE00003727011	64449115	64449223
ENSE00003735295	64467565	64467645
ENSE00003889622	64460822	64460932
ENSE00003889858	64452597	64452866
ENSE00003890946	64466594	64466662
ENSE00003891238	64457400	64457684
ENSE00003893282	64449314	64449355
ENSE00003895894	64465452	64465541
ENSE00003896122	64466442	64466498

Expression profiles

Bgee: expression breadth ubiquitous, 189 present calls, max score 96.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9895 / max 227.3399, expressed in 1175 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
208346	9.6041	1170
208347	0.3854	206

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	96.13	gold quality
mononuclear cell	CL:0000842	95.87	gold quality
leukocyte	CL:0000738	95.16	gold quality
granulocyte	CL:0000094	85.98	gold quality
vermiform appendix	UBERON:0001154	85.07	gold quality
blood	UBERON:0000178	84.91	gold quality
lymph node	UBERON:0000029	84.55	gold quality
right coronary artery	UBERON:0001625	83.36	gold quality
spleen	UBERON:0002106	82.25	gold quality
bone marrow cell	CL:0002092	81.82	gold quality
gall bladder	UBERON:0002110	80.83	gold quality
rectum	UBERON:0001052	80.35	gold quality
caecum	UBERON:0001153	79.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.90	silver quality
bone marrow	UBERON:0002371	79.33	gold quality
left coronary artery	UBERON:0001626	78.99	gold quality
right lung	UBERON:0002167	78.95	gold quality
upper lobe of left lung	UBERON:0008952	78.04	gold quality
coronary artery	UBERON:0001621	77.98	gold quality
upper lobe of lung	UBERON:0008948	77.66	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.74	gold quality
smooth muscle tissue	UBERON:0001135	76.62	gold quality
descending thoracic aorta	UBERON:0002345	76.09	gold quality
omental fat pad	UBERON:0010414	76.05	gold quality
peritoneum	UBERON:0002358	75.99	gold quality
thoracic aorta	UBERON:0001515	75.93	gold quality
ascending aorta	UBERON:0001496	75.71	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.45	gold quality
left adrenal gland cortex	UBERON:0035825	74.92	gold quality
right adrenal gland cortex	UBERON:0035827	74.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting MILR1, 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-4534	99.99	66.58	1907
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-759	96.16	66.77	873
HSA-MIR-4683	95.29	65.98	631
HSA-MIR-1268A	87.06	61.46	145
HSA-MIR-1268B	87.06	61.46	145

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• Allergin-1S1, a splicing isoform of Allergin-1, is predominantly expressed on human primary MC in both bronchoalveolar lavage fluid and nasal scratching specimens. Moreover, Allergin-1S1 inhibits IgE-mediated activation from human primary MC in BAL fluid. (PMID:24116093)
• It is a immunoglobulin-like receptor which regulates the activation of mast cell.(review) (PMID:24552759)
• Data indicate that the rs6504230 polymorphism affects MILR1 (mast cell immunoglobulin-like receptor 1; synonyms, Allergin-1) expression levels, leading to a susceptibility to producing specific IgE antibodies against common allergens. (PMID:25007884)
• Differential isoform expression of Allergin-1 during acute and chronic inflammation. (PMID:36444625)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:154125	ENSDARG00000071463
danio_rerio	si:ch1073-66l23.1	ENSDARG00000097702
mus_musculus	Milr1	ENSMUSG00000040528
rattus_norvegicus	Milr1	ENSRNOG00000042524

Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCRL5 (ENSG00000143297), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL4 (ENSG00000163518), FCRL1 (ENSG00000163534), FCER1A (ENSG00000179639), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), PECAM1 (ENSG00000261371)

Protein

Protein identifiers

Allergin-1 — Q7Z6M3 (reviewed: Q7Z6M3)

Alternative names: Allergy inhibitory receptor 1, Mast cell antigen 32, Mast cell immunoglobulin-like receptor 1

All UniProt accessions (3): A0A087WVL4, Q7Z6M3, S4R3N6

UniProt curated annotations — full annotation on UniProt →

Function. Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction.

Subunit / interactions. Monomer. Interacts (tyrosine-phosphorylated) with PTPN6, PTPN11 and INPP5D.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in myeloid cells (dendritic cells, macrophages and neutrophils, weak expression on B-cells but not in T-cells or natural killer cells), peripheral blood basophils and mast cells (at protein level).

Post-translational modifications. N-glycosylated.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z6M3-1	1, L	yes
Q7Z6M3-2	2, S1
Q7Z6M3-3	3, S2

RefSeq proteins (4): NP_001078892, NP_001278245, NP_001278246, NP_001356422 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR040878	IL-40-like_Ig	Domain

Pfam: PF13895, PF17736

UniProt features (21 total): glycosylation site 6, modified residue 2, disulfide bond 2, splice variant 2, topological domain 2, domain 2, short sequence motif 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z6M3-F1	74.55	0.48

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 (2): 338, 313

Disulfide bonds (2): 56–103, 147–196

Glycosylation sites (6): 51, 60, 89, 151, 157, 182

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 94 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_MAST_CELL_ACTIVATION, GOBP_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, GOBP_REGULATION_OF_MAST_CELL_ACTIVATION, GOBP_SECRETION, GOBP_NEGATIVE_REGULATION_OF_MAST_CELL_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_IMMUNE_EFFECTOR_PROCESS

GO Biological Process (4): immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), negative regulation of mast cell activation (GO:0033004), mast cell degranulation (GO:0043303)

GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune system process	1
response to stimulus	1
signal transduction	1
negative regulation of leukocyte activation	1
regulation of mast cell activation	1
mast cell activation	1
mast cell activation involved in immune response	1
mast cell mediated immunity	1
lysosome localization	1
leukocyte degranulation	1
establishment of organelle localization	1
signaling receptor activity	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MILR1	CD302	Q8IX05	571
MILR1	AGO1	Q9UL18	546
MILR1	DICER1	Q9UPY3	418
MILR1	HIGD2A	Q9BW72	408
MILR1	CCM2	Q9BSQ5	399
MILR1	PRSS57	Q6UWY2	388
MILR1	CBFA2T3	O75081	375
MILR1	CIMAP1C	Q8IXM7	371
MILR1	RPS7	P23821	357
MILR1	CD300A	Q9UGN4	349
MILR1	AGL	P35573	339
MILR1	MAP3K3	Q99759	332
MILR1	CD72	P21854	327
MILR1	GMIP	Q9P107	323
MILR1	C17orf78	Q8N4C9	311

IntAct

24 interactions, top by confidence:

A	B	Type	Score
MILR1	INPPL1	psi-mi:“MI:0914”(association)	0.640
MILR1	GIMAP5	psi-mi:“MI:0915”(physical association)	0.560
BTNL8	MILR1	psi-mi:“MI:0915”(physical association)	0.560
MILR1	HHATL	psi-mi:“MI:0915”(physical association)	0.560
MILR1	TMEM140	psi-mi:“MI:0915”(physical association)	0.560
MILR1	ARLN	psi-mi:“MI:0915”(physical association)	0.560
MOSPD3	MILR1	psi-mi:“MI:0915”(physical association)	0.560
IGSF10	MILR1	psi-mi:“MI:0915”(physical association)	0.400
MILR1	SBNO1	psi-mi:“MI:0914”(association)	0.350
BTNL8	MILR1	psi-mi:“MI:0915”(physical association)	0.000
HHATL	MILR1	psi-mi:“MI:0915”(physical association)	0.000
TMEM140	MILR1	psi-mi:“MI:0915”(physical association)	0.000
ARLN	MILR1	psi-mi:“MI:0915”(physical association)	0.000
MOSPD3	MILR1	psi-mi:“MI:0915”(physical association)	0.000
GIMAP5	MILR1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (71): RYK (Affinity Capture-MS), PLAA (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), GBF1 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), FHL2 (Affinity Capture-MS), GLMN (Affinity Capture-MS), MILR1 (Two-hybrid), MILR1 (Two-hybrid), MILR1 (Two-hybrid), MILR1 (Two-hybrid), MILR1 (Two-hybrid), MILR1 (Two-hybrid), FHL2 (Affinity Capture-MS), PLAA (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KBC9, A1YIY0, B6A8R8, C0HJX2, C0HJX3, D3ZQX2, P08101, P0C1X9, P0DTI4, P12314, P12318, P26151, P43626, P43627, P43628, P43629, P43630, P43631, P43632, P83555, P83556, P97484, Q01965, Q13291, Q14943, Q14952, Q14953, Q14954, Q28942, Q3B8P2, Q60513, Q61450, Q63203, Q64281, Q68SN8, Q6UX27, Q7TQA1, Q7Z6M3, Q8BG84, Q8BHK6

Diamond homologs: Q3TB92, Q62875, Q7Z6M3, A3RFZ7, P08101, P08637, P12314, P12319, P12371, P20489, P26151, Q09TM2, Q09TM4, Q28110, Q3B8P2, Q5DRQ8, Q60513, Q68SN8, Q6BAA4, Q7L513, Q8R4Y0, Q8SPW2, Q920A9, Q92637, Q96LA5, Q96LA6, Q96P31, Q96PJ5, Q96RD9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	20
Likely pathogenic	9
Uncertain significance	279
Likely benign	146
Benign	13

Top pathogenic / likely-pathogenic (29)

Variant ID	HGVS	Classification
1350223	NM_007215.4(POLG2):c.1188_1191del (p.Gln397fs)	Pathogenic
1371958	NM_007215.4(POLG2):c.463G>T (p.Glu155Ter)	Pathogenic
1391451	NM_007215.4(POLG2):c.305dup (p.Leu102fs)	Pathogenic
1442683	NM_007215.4(POLG2):c.584dup (p.Asn195fs)	Pathogenic
1453764	NM_007215.4(POLG2):c.578_579del (p.Tyr193fs)	Pathogenic
1982168	NM_007215.4(POLG2):c.457_458del (p.Leu153fs)	Pathogenic
2020687	NM_007215.4(POLG2):c.8del (p.Ser3fs)	Pathogenic
2030914	NM_007215.4(POLG2):c.529del (p.Thr177fs)	Pathogenic
2117271	NM_007215.4(POLG2):c.496C>T (p.Gln166Ter)	Pathogenic
2183406	NM_007215.4(POLG2):c.385del (p.Asp129fs)	Pathogenic
2779035	NM_007215.4(POLG2):c.752G>A (p.Trp251Ter)	Pathogenic
2810448	NM_007215.4(POLG2):c.885G>A (p.Trp295Ter)	Pathogenic
2852560	NM_007215.4(POLG2):c.746del (p.Asn249fs)	Pathogenic
2978960	NM_007215.4(POLG2):c.982C>T (p.Arg328Ter)	Pathogenic
2987161	NM_007215.4(POLG2):c.1045dup (p.Tyr349fs)	Pathogenic
3011244	NM_007215.4(POLG2):c.765G>A (p.Trp255Ter)	Pathogenic
3607303	NM_007215.4(POLG2):c.989dup (p.Asn330fs)	Pathogenic
3618981	NM_007215.4(POLG2):c.404del (p.Pro135fs)	Pathogenic
40247	NM_007215.4(POLG2):c.614C>G (p.Pro205Arg)	Pathogenic
40249	NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs)	Pathogenic
1348402	NM_007215.4(POLG2):c.690-1G>A	Likely pathogenic
1520399	NM_007215.4(POLG2):c.689+1G>A	Likely pathogenic
2757248	NM_007215.4(POLG2):c.562+1G>C	Likely pathogenic
3367103	NM_007215.4(POLG2):c.1110+2T>A	Likely pathogenic
3767175	NM_007215.4(POLG2):c.416del (p.Leu139fs)	Likely pathogenic
3780477	NM_007215.4(POLG2):c.1192-1G>A	Likely pathogenic
4077438	NM_007215.4(POLG2):c.370C>T (p.Gln124Ter)	Likely pathogenic
4701401	NM_007215.4(POLG2):c.969+1G>A	Likely pathogenic
5276	NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)	Likely pathogenic

SpliceAI

1538 predictions. Top by Δscore:

Variant	Effect	Δscore
17:64465538:GCAA:G	donor_gain	1.0000
17:64465542:G:GG	donor_gain	1.0000
17:64466440:A:AG	acceptor_gain	1.0000
17:64466441:G:GG	acceptor_gain	1.0000
17:64466441:GA:G	acceptor_gain	1.0000
17:64466592:A:AG	acceptor_gain	1.0000
17:64466593:G:GG	acceptor_gain	1.0000
17:64466593:GA:G	acceptor_gain	1.0000
17:64467563:A:AG	acceptor_gain	1.0000
17:64467564:G:GG	acceptor_gain	1.0000
17:64467564:GAA:G	acceptor_gain	1.0000
17:64480283:TCTTA:T	donor_loss	1.0000
17:64480284:CTTAC:C	donor_loss	1.0000
17:64480285:TTA:T	donor_loss	1.0000
17:64480287:A:AC	donor_gain	1.0000
17:64480287:A:C	donor_loss	1.0000
17:64480288:C:CC	donor_gain	1.0000
17:64480288:CTT:C	donor_gain	1.0000
17:64480290:T:TA	donor_gain	1.0000
17:64480385:CAAAC:C	acceptor_gain	1.0000
17:64480391:T:C	acceptor_loss	1.0000
17:64485749:T:A	donor_gain	1.0000
17:64490907:T:TA	donor_gain	1.0000
17:64490912:T:A	donor_gain	1.0000
17:64490970:C:CC	acceptor_gain	1.0000
17:64465540:AA:A	donor_gain	0.9900
17:64465542:G:GA	donor_loss	0.9900
17:64466433:A:AG	acceptor_gain	0.9900
17:64466434:T:G	acceptor_gain	0.9900
17:64466437:TACAG:T	acceptor_gain	0.9900

AlphaMissense

2244 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:64457471:T:A	C147S	0.994
17:64457472:G:C	C147S	0.994
17:64452806:T:A	C103S	0.991
17:64452807:G:C	C103S	0.991
17:64457473:C:G	C147W	0.991
17:64457618:T:A	C196S	0.990
17:64457619:G:C	C196S	0.990
17:64457471:T:C	C147R	0.988
17:64457472:G:A	C147Y	0.986
17:64452665:T:A	C56S	0.985
17:64452666:G:C	C56S	0.985
17:64452839:A:C	S114R	0.984
17:64452841:T:A	S114R	0.984
17:64452841:T:G	S114R	0.984
17:64457624:G:C	A198P	0.981
17:64452806:T:C	C103R	0.980
17:64452800:T:G	Y101D	0.979
17:64452666:G:A	C56Y	0.975
17:64457657:A:C	S209R	0.975
17:64457659:T:A	S209R	0.975
17:64457659:T:G	S209R	0.975
17:64457618:T:C	C196R	0.974
17:64452665:T:C	C56R	0.973
17:64457472:G:T	C147F	0.973
17:64457466:T:C	L145S	0.971
17:64457619:G:A	C196Y	0.971
17:64452667:T:G	C56W	0.970
17:64457504:T:G	Y158D	0.970
17:64457632:C:A	N200K	0.969
17:64457632:C:G	N200K	0.969

dbSNP variants (sampled 300 via entrez): RS1000039971 (17:64494658 G>A,T), RS1000100577 (17:64451165 C>G), RS1000168071 (17:64452357 A>G), RS1000205152 (17:64469239 A>G), RS1000299854 (17:64469491 G>A), RS1000410387 (17:64450964 A>G), RS1000465470 (17:64463350 G>A), RS1000573916 (17:64475971 G>A,T), RS1000589887 (17:64468265 G>A), RS1000788248 (17:64462067 C>T), RS1000814923 (17:64463101 C>G), RS1000894670 (17:64488532 A>G), RS1000996583 (17:64481597 G>A), RS1001199313 (17:64462219 G>A,C), RS1001264737 (17:64488211 T>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:619425, MIM:618528, MIM:610131, MIM:303350

GenCC curated gene-disease

Mondo (5): mitochondrial dna depletion syndrome 16B (neuroophthalmic type) (MONDO:0030326), mitochondrial DNA depletion syndrome 16 (hepatic type) (MONDO:0032799), progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 (MONDO:0012415), hereditary spastic paraplegia (MONDO:0019064), hereditary skeletal muscle disorder (MONDO:0700223)

Orphanet (1): Hereditary spastic paraplegia (Orphanet:685)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007096_2	Pulse pressure	8.000000e-07
GCST007099_147	Systolic blood pressure	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C566437	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
NSC 689534	increases expression	1
trametinib	decreases expression, affects cotreatment	1
NVP-BKM120	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases expression	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Doxorubicin	affects expression	1
Silicon Dioxide	increases expression	1
Dronabinol	decreases expression	1
Theophylline	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Antirheumatic Agents	decreases expression	1
S-Nitrosoglutathione	decreases 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_E1D3	Ubigene THP-1 MILR1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT03961906	PHASE2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	PHASE2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT02604186	PHASE2/PHASE3	COMPLETED	Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT06948019	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT06478238	EARLY_PHASE1	RECRUITING	Calcium Folinate Treatment of Spastic Paraplegia 56
NCT00023075	Not specified	COMPLETED	Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00677768	Not specified	COMPLETED	Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
NCT01568658	Not specified	ACTIVE_NOT_RECRUITING	Genetic and Physical Study of Childhood Nerve and Muscle Disorders
NCT02327845	Not specified	ENROLLING_BY_INVITATION	Phenotype, Genotype & Biomarkers in ALS and Related Disorders
NCT02852278	Not specified	COMPLETED	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
NCT02859428	Not specified	TERMINATED	Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
NCT03104088	Not specified	COMPLETED	Studying Cognition in SPG4
NCT03206190	Not specified	RECRUITING	The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
NCT03627416	Not specified	COMPLETED	Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
NCT03981276	Not specified	RECRUITING	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT04006418	Not specified	RECRUITING	A Registered Cohort Study on Spastic Paraplegia
NCT04180098	Not specified	COMPLETED	Improving Gait Adaptability in Hereditary Spastic Paraplegia
NCT04256681	Not specified	COMPLETED	SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)
NCT04712812	Not specified	RECRUITING	Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
NCT04875416	Not specified	ACTIVE_NOT_RECRUITING	Phenotype, Genotype and Biomarkers 2
NCT04912609	Not specified	COMPLETED	Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
NCT05354622	Not specified	RECRUITING	Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
NCT05373082	Not specified	COMPLETED	Identification of Modifying Factors in Hereditary Spastic Paraplegia
NCT05411627	Not specified	WITHDRAWN	A Pilot Study of Shockwave Therapy in HSP
NCT05432999	Not specified	COMPLETED	Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury
NCT05613114	Not specified	COMPLETED	Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
NCT05767268	Not specified	COMPLETED	Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat
NCT05848271	Not specified	RECRUITING	Natural History Study of Patients with HPDL Mutations
NCT06156813	Not specified	RECRUITING	Turkish Lower-Extremity Motor Activity Log (LE-MAL)
NCT06229626	Not specified	RECRUITING	Evaluation of an Intensive Training Program for Patients with Hereditary Spastic Paraparesis SPG4/Spast
NCT06260982	Not specified	UNKNOWN	Cognitive Disorders in Hereditary Spastic Paraplegia Type 4
NCT06553976	Not specified	RECRUITING	Spastic Paraplegia - Centers of Excellence Research Network
NCT06572046	Not specified	RECRUITING	STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
NCT06573866	Not specified	RECRUITING	Enhancement of Quality of Work And Life
NCT06680063	Not specified	COMPLETED	Correlation Between Clinical Assessment and Neurophysiological Assessment in Spinal Cord Injury