ACTR1A

Summary

ACTR1A (actin related protein 1A, HGNC:167) is a protein-coding gene on chromosome 10q24.32, encoding Alpha-centractin (P61163). Part of the ACTR1A/ACTB filament around which the dynactin complex is built. It is a selective cancer dependency (DepMap: 78.1% of cell lines).

This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin.

Source: NCBI Gene 10121 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 39 total — 2 pathogenic
• Cancer dependency (DepMap): dependent in 78.1% of screened cell lines
• MANE Select transcript: NM_005736

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:167
Approved symbol	ACTR1A
Name	actin related protein 1A
Location	10q24.32
Locus type	gene with protein product
Status	Approved
Aliases	ARP1, Arp1A
Ensembl gene	ENSG00000138107
Ensembl biotype	protein_coding
OMIM	605143
Entrez	10121

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 14 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000369905, ENST00000470322, ENST00000480947, ENST00000481044, ENST00000487599, ENST00000494549, ENST00000636707, ENST00000900299, ENST00000900300, ENST00000900301, ENST00000900302, ENST00000900303, ENST00000900304, ENST00000900305, ENST00000900306, ENST00000900307, ENST00000972051, ENST00000972052, ENST00000972053

RefSeq mRNA: 1 — MANE Select: NM_005736 NM_005736

CCDS: CCDS7536

Canonical transcript exons

ENST00000369905 — 11 exons

Exon	Start	End
ENSE00001613806	102502600	102502712
ENSE00001861057	102479229	102480965
ENSE00003250773	102482001	102482175
ENSE00003466738	102481837	102481898
ENSE00003542714	102490549	102490613
ENSE00003583063	102488150	102488275
ENSE00003637760	102489063	102489138
ENSE00003643387	102483011	102483103
ENSE00003644632	102484160	102484376
ENSE00003668590	102481132	102481172
ENSE00003685737	102485609	102485733

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 98.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 106.0542 / max 540.4059, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111179	97.5285	1827
111178	7.9999	1742
111177	0.5259	272

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.65	gold quality
ganglionic eminence	UBERON:0004023	98.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.61	gold quality
lower esophagus	UBERON:0013473	97.60	gold quality
gastrocnemius	UBERON:0001388	97.44	gold quality
prefrontal cortex	UBERON:0000451	97.34	gold quality
right frontal lobe	UBERON:0002810	97.29	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.24	gold quality
muscle of leg	UBERON:0001383	97.14	gold quality
stromal cell of endometrium	CL:0002255	97.03	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.02	gold quality
cingulate cortex	UBERON:0003027	96.83	gold quality
anterior cingulate cortex	UBERON:0009835	96.83	gold quality
apex of heart	UBERON:0002098	96.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.79	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.72	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.70	gold quality
popliteal artery	UBERON:0002250	96.60	gold quality
tibial artery	UBERON:0007610	96.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.58	gold quality
mucosa of stomach	UBERON:0001199	96.50	gold quality
right coronary artery	UBERON:0001625	96.48	gold quality
smooth muscle tissue	UBERON:0001135	96.44	gold quality
left coronary artery	UBERON:0001626	96.42	gold quality
aorta	UBERON:0000947	96.39	gold quality
esophagus	UBERON:0001043	96.39	gold quality
right atrium auricular region	UBERON:0006631	96.30	gold quality
islet of Langerhans	UBERON:0000006	96.29	gold quality
thoracic aorta	UBERON:0001515	96.22	gold quality
ascending aorta	UBERON:0001496	96.20	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.83
E-MTAB-7606	no	744.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

140 targeting ACTR1A, 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-4673	100.00	66.64	1490
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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-95-5P	99.89	72.17	3973

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 78.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• ARP1 interacted with two regions of the FVII 5’ flanking region, the hepatic nuclear factor 4 binding region and the nuclear hormone response region, indicating a role for ARP1 in transcriptional modulation of the FVII gene. (PMID:12871323)
• point mutation observed by transcriptome sequencing of malignant pleural mesothelioma tumors (PMID:18303113)
• An important role for ACTR1A in induction of pro-inflammatory cytokines.TLR2 interacts with alpha-centractin. (PMID:31221720)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	actr1b	ENSDARG00000011611
mus_musculus	Actr1a	ENSMUSG00000025228
rattus_norvegicus	Actr1a	ENSRNOG00000019725
drosophila_melanogaster	Arp1	FBGN0011745
caenorhabditis_elegans		WBGENE00013168

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)

Protein

Protein identifiers

Alpha-centractin — P61163 (reviewed: P61163)

Alternative names: ARP1, Actin-RPV, Centrosome-associated actin homolog

All UniProt accessions (4): P61163, A0A1B0GVS3, A0A384NQ21, R4GMT0

UniProt curated annotations — full annotation on UniProt →

Function. Part of the ACTR1A/ACTB filament around which the dynactin complex is built. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules.

Subunit / interactions. Part of the ACTR1A/ACTB filament around which the dynactin complex is built. The filament contains 8 copies of ACTR1A and 1 ACTB. Interacts with dynein and adapters such as BICD2. Interacts with BCCIP (isoform 2/alpha).

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cell cortex.

Similarity. Belongs to the actin family. ARP1 subfamily.

RefSeq proteins (1): NP_005727* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR004001	Actin_CS	Conserved_site
IPR020902	Actin/actin-like_CS	Conserved_site
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

UniProt features (2 total): chain 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9B85	ELECTRON MICROSCOPY	3.47
9B7J	ELECTRON MICROSCOPY	3.49

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61163-F1	93.00	0.87

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): 1

Function

Pathways and Gene Ontology

Reactome pathways

33 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1280218	Adaptive Immune System
R-HSA-1640170	Cell Cycle
R-HSA-168256	Immune System
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-2262752	Cellular responses to stress
R-HSA-380287	Centrosome maturation
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 216 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, TGCGCANK_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, ACTGCAG_MIR173P, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, TTGGGAG_MIR150, NFKB_Q6, EVI1_05, GROSS_HYPOXIA_VIA_ELK3_UP, GATA1_01, GOCC_CENTROSOME

GO Biological Process (1): vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), dynactin complex (GO:0005869), microtubule associated complex (GO:0005875), cell cortex (GO:0005938), extracellular exosome (GO:0070062), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Adaptive Immune System	1
Cellular responses to stress	1
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
ER to Golgi Anterograde Transport	1
Golgi-to-ER retrograde transport	1
Immune System	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Cellular responses to stimuli	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
microtubule cytoskeleton	2
transport	1
cellular process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
microtubule associated complex	1
actin cytoskeleton	1
protein-containing complex	1
cell periphery	1
extracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

163 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
ACTR1A	DCTN2	psi-mi:“MI:0914”(association)	0.790
DCTN1	DCTN6	psi-mi:“MI:0914”(association)	0.780
DCTN2	DCTN6	psi-mi:“MI:0914”(association)	0.730
DCTN2	DCTN3	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
DCTN1	DCTN3	psi-mi:“MI:0914”(association)	0.710
DYNC1I2	DYNC1LI2	psi-mi:“MI:0914”(association)	0.680
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
DCTN5	DCTN6	psi-mi:“MI:0914”(association)	0.640
PDCL3	PEX7	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640

BioGRID (393): ACTR1A (Affinity Capture-MS), ACTR1A (Affinity Capture-RNA), ACTR1A (Affinity Capture-RNA), ACTR1A (Affinity Capture-MS), ACTR1A (Affinity Capture-MS), ACTR1A (Affinity Capture-MS), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation), ACTR1A (Co-fractionation)

ESM2 similar proteins: A2VD93, A2WNB0, A2XMK6, A3ANB5, A4FUX8, A4IFE3, O00937, O94241, O94805, O96019, O96621, P02583, P12715, P20360, P32381, P42023, P42025, P45888, P45889, P45890, P47117, P51775, P53468, P53469, P53489, P53499, P55805, P61162, P61163, P61164, P85515, P86173, Q09443, Q09849, Q2YDD0, Q4R333, Q4R6J2, Q4R6J9, Q54I79, Q5NBI2

Diamond homologs: A2BDB0, A2XLF2, A2XNS1, A3C6D7, A4IFE3, F2Z5G5, O17320, O18840, O65314, O81221, P02578, P04829, P0C539, P0CJ46, P0CJ47, P0DM41, P0DM42, P10981, P10984, P10986, P10990, P17304, P30162, P30163, P30167, P30171, P38673, P42023, P42025, P45885, P45886, P45889, P48465, P48975, P53455, P53456, P53457, P53458, P53470, P53471

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 157 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
COPI-independent Golgi-to-ER retrograde traffic	17	33.3×	2e-19
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	15	27.4×	1e-15
Aggrephagy	10	23.4×	5e-10
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	6	23.1×	6e-06
Formation of tubulin folding intermediates by CCT/TriC	5	19.9×	1e-04
RHO GTPases activate IQGAPs	6	19.6×	2e-05
Prefoldin mediated transfer of substrate to CCT/TriC	5	18.6×	1e-04
Loss of Nlp from mitotic centrosomes	12	18.0×	2e-10

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of microtubule polymerization	6	30.9×	2e-05
mitotic spindle organization	6	12.4×	2e-03
microtubule-based movement	5	11.3×	8e-03
microtubule cytoskeleton organization	11	10.2×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	18
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3342255	Single allele	Pathogenic
58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	Pathogenic

SpliceAI

3418 predictions. Top by Δscore:

Variant	Effect	Δscore
10:102469159:GT:G	donor_gain	1.0000
10:102469992:GACA:G	acceptor_gain	1.0000
10:102470094:GCTC:G	donor_gain	1.0000
10:102470135:G:GT	donor_gain	1.0000
10:102470972:G:GT	donor_gain	1.0000
10:102471271:A:AG	acceptor_gain	1.0000
10:102471272:G:GG	acceptor_gain	1.0000
10:102472946:GTTGG:G	donor_gain	1.0000
10:102472947:TTGGG:T	donor_loss	1.0000
10:102472948:TGGGT:T	donor_loss	1.0000
10:102472949:GG:G	donor_gain	1.0000
10:102472949:GGGT:G	donor_loss	1.0000
10:102472950:GG:G	donor_gain	1.0000
10:102472950:GGT:G	donor_loss	1.0000
10:102472952:TGAG:T	donor_loss	1.0000
10:102472953:GAGT:G	donor_loss	1.0000
10:102473565:CCCA:C	acceptor_loss	1.0000
10:102473566:CCAGG:C	acceptor_loss	1.0000
10:102473567:CAGG:C	acceptor_loss	1.0000
10:102473568:A:AG	acceptor_gain	1.0000
10:102473568:A:C	acceptor_loss	1.0000
10:102473568:AG:A	acceptor_gain	1.0000
10:102473569:G:GG	acceptor_gain	1.0000
10:102473569:GG:G	acceptor_gain	1.0000
10:102473569:GGC:G	acceptor_gain	1.0000
10:102473569:GGCCT:G	acceptor_gain	1.0000
10:102473739:CAGG:C	donor_loss	1.0000
10:102473740:AGGTA:A	donor_loss	1.0000
10:102473741:GGTA:G	donor_loss	1.0000
10:102473742:G:C	donor_loss	1.0000

AlphaMissense

2454 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:102480951:G:T	A348D	1.000
10:102480963:C:T	G344D	1.000
10:102480964:C:G	G344R	1.000
10:102481132:C:A	G343V	1.000
10:102481132:C:T	G343E	1.000
10:102481133:C:A	G343W	1.000
10:102481133:C:G	G343R	1.000
10:102481133:C:T	G343R	1.000
10:102481139:A:G	W341R	1.000
10:102481139:A:T	W341R	1.000
10:102482021:C:T	G302E	1.000
10:102484335:C:T	G161E	1.000
10:102484336:C:A	G161W	1.000
10:102484353:C:T	G155E	1.000
10:102484354:C:A	G155W	1.000
10:102484354:C:G	G155R	1.000
10:102484354:C:T	G155R	1.000
10:102485723:A:G	L109P	1.000
10:102488197:A:G	W90R	1.000
10:102488197:A:T	W90R	1.000
10:102490592:C:G	G24R	1.000
10:102490612:C:T	G17E	1.000
10:102502613:A:T	V12D	1.000
10:102480925:A:G	W357R	0.999
10:102480925:A:T	W357R	0.999
10:102480935:A:C	F353L	0.999
10:102480935:A:T	F353L	0.999
10:102480937:A:G	F353L	0.999
10:102480945:A:G	L350P	0.999
10:102480952:C:G	A348P	0.999

dbSNP variants (sampled 300 via entrez): RS1000011576 (10:102479760 A>C,G), RS1000108508 (10:102501291 A>G), RS1000179250 (10:102497795 AGAGAAAGGATAGGGTT>A), RS1000202518 (10:102483407 T>A,C), RS1000207326 (10:102491454 A>G), RS1000353249 (10:102494120 G>A), RS1000362988 (10:102479418 G>A,C,T), RS1000411697 (10:102503462 A>G), RS1000544013 (10:102496396 G>A), RS1000804231 (10:102485017 T>C), RS1000836347 (10:102482852 A>C), RS1000903610 (10:102492552 CTAAG>C), RS1000955573 (10:102492113 C>T), RS1001172987 (10:102489244 A>G), RS1001188825 (10:102480448 G>T)

Disease associations

OMIM: gene MIM:605143 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001942_1	Prostate cancer	5.000000e-10
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_53	Autism spectrum disorder or schizophrenia	9.000000e-10
GCST005038_102	Allergic disease (asthma, hay fever or eczema)	2.000000e-08
GCST005956_50	Waist-to-hip ratio adjusted for BMI	8.000000e-06
GCST005958_15	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST005962_36	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07
GCST006409_9	Allergic rhinitis	5.000000e-18
GCST007387_8	Insomnia symptoms (never/rarely vs. sometimes/usually)	5.000000e-08
GCST007388_47	Insomnia symptoms (never/rarely vs. usually)	4.000000e-11
GCST010002_298	Refractive error	3.000000e-22
GCST010703_271	Brain morphology (MOSTest)	5.000000e-13
GCST012227_616	Hip circumference adjusted for BMI	4.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007876	insomnia measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
diallyl trisulfide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
tanespimycin	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
VER 155008	affects cotreatment, decreases expression	1
LDN 193189	increases expression, affects cotreatment	1
Atrazine	increases expression	1
Benztropine	affects cotreatment, increases expression	1
Cisplatin	increases expression	1
Cuprizone	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Furaldehyde	affects cotreatment, affects localization, increases expression	1
Hydrogen Peroxide	increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Methotrexate	affects response to substance	1
Quercetin	increases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Sodium Chloride	affects cotreatment, affects localization, increases expression	1
T-2 Toxin	increases expression	1
Dronabinol	decreases expression	1

Clinical trials (associated diseases)

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