ACTR10

Summary

ACTR10 (actin related protein 10, HGNC:17372) is a protein-coding gene on chromosome 14q23.1, encoding Actin-related protein 10 (Q9NZ32). Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).

Predicted to be involved in retrograde axonal transport of mitochondrion. Predicted to act upstream of or within microtubule-based movement. Predicted to be located in cytosol; extracellular region; and secretory granule. Predicted to be part of dynactin complex.

Source: NCBI Gene 55860 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 78 total — 4 pathogenic, 2 likely-pathogenic
• Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_018477

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17372
Approved symbol	ACTR10
Name	actin related protein 10
Location	14q23.1
Locus type	gene with protein product
Status	Approved
Aliases	HARP11, ACTR11, Arp11, Arp10
Ensembl gene	ENSG00000131966
Ensembl biotype	protein_coding
OMIM	619731
Entrez	55860

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 14 protein_coding, 7 nonsense_mediated_decay, 7 retained_intron

ENST00000254286, ENST00000545307, ENST00000553907, ENST00000554402, ENST00000554642, ENST00000554790, ENST00000555229, ENST00000555337, ENST00000555965, ENST00000556243, ENST00000556312, ENST00000556449, ENST00000556694, ENST00000556748, ENST00000557583, ENST00000557711, ENST00000852587, ENST00000852588, ENST00000852589, ENST00000852590, ENST00000852591, ENST00000852592, ENST00000852593, ENST00000852594, ENST00000960143, ENST00000960144, ENST00000960145, ENST00000960146

RefSeq mRNA: 1 — MANE Select: NM_018477 NM_018477

CCDS: CCDS32090

Canonical transcript exons

ENST00000254286 — 13 exons

Exon	Start	End
ENSE00001283577	58234370	58235636
ENSE00001507433	58211292	58211399
ENSE00002467297	58200149	58200294
ENSE00003462506	58208999	58209107
ENSE00003473631	58223783	58223856
ENSE00003484055	58223622	58223701
ENSE00003499734	58213631	58213698
ENSE00003544087	58202855	58202927
ENSE00003559677	58219694	58219729
ENSE00003610896	58232066	58232267
ENSE00003634702	58230399	58230480
ENSE00003650317	58215205	58215284
ENSE00003680811	58207936	58208018

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.1694 / max 232.7495, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139813	45.5164	1825
139814	5.6530	1682

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.65	gold quality
cortical plate	UBERON:0005343	98.63	gold quality
pons	UBERON:0000988	98.43	gold quality
middle temporal gyrus	UBERON:0002771	98.39	gold quality
esophagus squamous epithelium	UBERON:0006920	98.26	gold quality
prefrontal cortex	UBERON:0000451	98.14	gold quality
calcaneal tendon	UBERON:0003701	97.96	gold quality
ganglionic eminence	UBERON:0004023	97.85	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.72	gold quality
epithelium of esophagus	UBERON:0001976	97.71	gold quality
dorsal root ganglion	UBERON:0000044	97.65	gold quality
ventricular zone	UBERON:0003053	97.65	gold quality
parotid gland	UBERON:0001831	97.64	gold quality
frontal cortex	UBERON:0001870	97.56	gold quality
neocortex	UBERON:0001950	97.41	gold quality
substantia nigra pars compacta	UBERON:0001965	97.40	gold quality
orbitofrontal cortex	UBERON:0004167	97.40	gold quality
adenohypophysis	UBERON:0002196	97.34	gold quality
hypothalamus	UBERON:0001898	97.28	gold quality
superior vestibular nucleus	UBERON:0007227	97.25	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.23	gold quality
myocardium	UBERON:0002349	97.21	gold quality
left ventricle myocardium	UBERON:0006566	97.21	gold quality
right frontal lobe	UBERON:0002810	97.18	gold quality
cerebral cortex	UBERON:0000956	97.16	gold quality
pituitary gland	UBERON:0000007	97.11	gold quality
cingulate cortex	UBERON:0003027	97.09	gold quality
anterior cingulate cortex	UBERON:0009835	97.09	gold quality
pigmented layer of retina	UBERON:0001782	97.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting ACTR10, 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-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7C-3P	99.95	73.42	2862

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	actr10	ENSDARG00000038432
mus_musculus	Actr10	ENSMUSG00000021076
rattus_norvegicus	Actr10	ENSRNOG00000007504
drosophila_melanogaster	Arp10	FBGN0031050
caenorhabditis_elegans		WBGENE00016793

Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), 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

Actin-related protein 10 — Q9NZ32 (reviewed: Q9NZ32)

Alternative names: Actin-related protein 11

All UniProt accessions (9): Q9NZ32, F6S9Y6, G3V2Q5, G3V4K6, G3V524, G3V5Y4, H0YJD9, H0YJE8, V9GYX7

UniProt curated annotations — full annotation on UniProt →

Function. Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules.

Subunit / interactions. Subunit of dynactin, a multiprotein complex part of a tripartite complex with dynein and a adapter, such as BICDL1, BICD2 or HOOK3. The dynactin complex is built around ACTR1A/ACTB filament and consists of an actin-related filament composed of a shoulder domain, a pointed end and a barbed end. Its length is defined by its flexible shoulder domain. The soulder is composed of 2 DCTN1 subunits, 4 DCTN2 and 2 DCTN3. The 4 DCNT2 (via N-terminus) bind the ACTR1A filament and act as molecular rulers to determine the length. The pointed end is important for binding dynein-dynactin cargo adapters. Consists of 4 subunits: ACTR10, DCNT4, DCTN5 and DCTN6. The barbed end is composed of a CAPZA1:CAPZB heterodimers, which binds ACTR1A/ACTB filament and dynactin and stabilizes dynactin.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the actin family.

RefSeq proteins (1): NP_060947* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004000	Actin	Family
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022

UniProt features (4 total): sequence conflict 3, chain 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-Q9NZ32-F1	83.59	0.57

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-6798695	Neutrophil degranulation
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-1280218	Adaptive Immune System
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-2262752	Cellular responses to stress
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
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-8856688	Golgi-to-ER retrograde transport
R-HSA-8953897	Cellular responses to stimuli
R-HSA-948021	Transport to the Golgi and subsequent modification

MSigDB gene sets: 156 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_AXO_DENDRITIC_TRANSPORT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, NKX62_Q2, chr14q23, GCM_NF2, GOCC_NEURON_PROJECTION, GOBP_MITOCHONDRION_LOCALIZATION, GOBP_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION

GO Biological Process (2): retrograde axonal transport of mitochondrion (GO:0098958), microtubule-based movement (GO:0007018)

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

GO Cellular Component (8): extracellular region (GO:0005576), cytosol (GO:0005829), dynactin complex (GO:0005869), azurophil granule lumen (GO:0035578), axon cytoplasm (GO:1904115), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Immune System	2
Membrane Trafficking	2
Adaptive Immune System	1
Cellular responses to stress	1
Innate Immune System	1
ER to Golgi Anterograde Transport	1
Golgi-to-ER retrograde transport	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Cellular responses to stimuli	1
Post-translational protein modification	1
Metabolism of proteins	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
retrograde axonal transport	1
axonal transport of mitochondrion	1
microtubule-based process	1
binding	1
cytoplasm	1
microtubule associated complex	1
actin cytoskeleton	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
axon	1
neuron projection cytoplasm	1
intracellular organelle lumen	1
ficolin-1-rich granule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

2626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTR10	DCTN2	Q13561	971
ACTR10	DCTN4	Q9UJW0	941
ACTR10	DCTN5	Q9BTE1	936
ACTR10	DCTN1	Q14203	907
ACTR10	DCTN6	O00399	905
ACTR10	TPPP	O94811	857
ACTR10	CAPZA2	P47755	833
ACTR10	CAPZA1	P52907	822
ACTR10	ACTB	P02570	773
ACTR10	DCTN3	O75935	689
ACTR10	LANCL1	O43813	565
ACTR10	AKIRIN2	Q53H80	549
ACTR10	ACTR1A	P42024	539
ACTR10	TRAK2	O60296	529
ACTR10	PLEKHA5	Q9HAU0	529

IntAct

137 interactions, top by confidence:

A	B	Type	Score
MED22	MED19	psi-mi:“MI:0914”(association)	0.790
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
DCTN1	DCTN3	psi-mi:“MI:0914”(association)	0.710
DYNC1I2	DYNC1LI2	psi-mi:“MI:0914”(association)	0.680
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
MIS18A	DCTN6	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
MAPK8IP3	RCCD1	psi-mi:“MI:0914”(association)	0.640
NAGK	ACTR10	psi-mi:“MI:0915”(physical association)	0.560
ACTR10	NAGK	psi-mi:“MI:0915”(physical association)	0.560
Dctn2	DCTN6	psi-mi:“MI:0914”(association)	0.560
DCTN4	ACTR10	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (172): ACTR10 (Two-hybrid), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), ACTR10 (Co-fractionation), ACTR1A (Co-fractionation), DCTN4 (Co-fractionation), ACTR10 (Proximity Label-MS), ACTR10 (Affinity Capture-MS)

ESM2 similar proteins: A1A5G2, A4IJ06, B5X2S3, D2I1E3, E1C3P4, F1M5F3, F1N2W9, F1QDI9, I0IUP4, O94806, O95267, O95453, P0C0T1, P50747, P59679, P69341, Q0VGM9, Q13572, Q16513, Q1LZF2, Q2KHI9, Q3LAC4, Q3UHE1, Q496Y0, Q5RC51, Q5RDA1, Q5U252, Q641K1, Q69ZK0, Q6GR37, Q6H1L8, Q6NTL4, Q6NYU2, Q70Z35, Q80YV4, Q8BND4, Q8BWW9, Q8BYN3, Q8K1Y2, Q8K2I9

Diamond homologs: I3LHK5, P10994, P80428, Q3ZBD2, Q754G5, Q9NZ32, Q9QZB7, Q6CSB9, Q6FJV8, A2WNB0, O15998, O94241, P04751, P04752, P08023, P0CM04, P0CM05, P10995, P20399, P27130, P41340, P43239, P45521, P45886, P45890, P48465, P49055, P53460, P53475, P53479, P53480, P53482, P53486, P62736, P62737, P62738, P62739, P62740, P68032, P68033

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 105 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	16	49.6×	1e-21
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	16	46.2×	3e-21
Sensory processing of sound	6	27.6×	1e-06
MHC class II antigen presentation	20	26.6×	1e-21
COPI-mediated anterograde transport	16	26.2×	4e-17
Aggrephagy	7	25.9×	2e-07
RHO GTPases activate IQGAPs	5	25.8×	2e-05
Recycling pathway of L1	7	23.4×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
barbed-end actin filament capping	5	46.1×	3e-05
microtubule-based movement	6	20.4×	1e-04
mitotic cell cycle	6	9.2×	6e-03
actin filament organization	6	8.2×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	49
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	Pathogenic
57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	Pathogenic
57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	Pathogenic
815660	GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1	Pathogenic
1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	Likely pathogenic
2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	Likely pathogenic

SpliceAI

1375 predictions. Top by Δscore:

Variant	Effect	Δscore
14:58200292:CAA:C	donor_gain	1.0000
14:58200292:CAAGT:C	donor_loss	1.0000
14:58200293:AAGT:A	donor_loss	1.0000
14:58200294:AGTG:A	donor_loss	1.0000
14:58200295:G:GG	donor_gain	1.0000
14:58207924:A:AG	acceptor_gain	1.0000
14:58207925:A:G	acceptor_gain	1.0000
14:58207932:A:AG	acceptor_gain	1.0000
14:58207933:C:G	acceptor_gain	1.0000
14:58207934:A:AC	acceptor_loss	1.0000
14:58207934:A:AG	acceptor_gain	1.0000
14:58207934:AGCCT:A	acceptor_gain	1.0000
14:58207935:G:GT	acceptor_gain	1.0000
14:58207935:GC:G	acceptor_gain	1.0000
14:58207935:GCC:G	acceptor_gain	1.0000
14:58207935:GCCT:G	acceptor_gain	1.0000
14:58207935:GCCTG:G	acceptor_gain	1.0000
14:58208015:TCAGG:T	donor_loss	1.0000
14:58208017:AGG:A	donor_loss	1.0000
14:58208019:G:C	donor_loss	1.0000
14:58208019:G:GG	donor_gain	1.0000
14:58208020:T:A	donor_loss	1.0000
14:58223617:TAAAG:T	acceptor_loss	1.0000
14:58223618:A:AG	acceptor_gain	1.0000
14:58223618:AAAGC:A	acceptor_gain	1.0000
14:58223619:A:AG	acceptor_gain	1.0000
14:58223619:AAGC:A	acceptor_gain	1.0000
14:58223620:A:G	acceptor_gain	1.0000
14:58223620:AGC:A	acceptor_gain	1.0000
14:58223621:G:GG	acceptor_gain	1.0000

AlphaMissense

2697 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:58200264:T:A	V16D	1.000
14:58202860:G:A	G28E	1.000
14:58209025:G:C	R87P	1.000
14:58232258:T:A	W355R	1.000
14:58232258:T:C	W355R	1.000
14:58232265:G:A	G357E	1.000
14:58232267:G:T	G358W	1.000
14:58234381:G:A	G362R	1.000
14:58234381:G:C	G362R	1.000
14:58234382:G:A	G362E	1.000
14:58234456:T:A	W387R	1.000
14:58234456:T:C	W387R	1.000
14:58202859:G:A	G28R	0.999
14:58202859:G:C	G28R	0.999
14:58202860:G:T	G28V	0.999
14:58202863:T:C	F29S	0.999
14:58202898:A:C	S41R	0.999
14:58202900:T:A	S41R	0.999
14:58202900:T:G	S41R	0.999
14:58207988:T:C	L68P	0.999
14:58208014:T:C	F77L	0.999
14:58208016:C:A	F77L	0.999
14:58208016:C:G	F77L	0.999
14:58209004:T:C	L80P	0.999
14:58209031:T:A	V89D	0.999
14:58209034:T:A	V90E	0.999
14:58209079:T:C	L105P	0.999
14:58211293:T:A	V115D	0.999
14:58211298:T:C	S117P	0.999
14:58211302:T:A	V118D	0.999

dbSNP variants (sampled 300 via entrez): RS1000369679 (14:58229505 C>G,T), RS1000390299 (14:58209081 A>G), RS1000420654 (14:58229393 T>C), RS1000485635 (14:58216153 C>A,G), RS1000487983 (14:58202380 G>T), RS1000514798 (14:58215797 A>G), RS1000784681 (14:58204482 T>C,G), RS1000890781 (14:58204309 G>A), RS1000902088 (14:58229180 C>T), RS1000987412 (14:58208638 G>A), RS1001046682 (14:58198948 A>G), RS1001059770 (14:58210935 A>G), RS1001069931 (14:58222681 C>T), RS1001146657 (14:58218348 A>C,G), RS1001407339 (14:58211280 G>C)

Disease associations

OMIM: gene MIM:619731 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008757_22	Alcohol consumption	2.000000e-11
GCST010703_93	Brain morphology (MOSTest)	6.000000e-54
GCST90002386_169	High light scatter reticulocyte percentage of red cells	2.000000e-10
GCST90002406_420	Reticulocyte fraction of red cells	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

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
Air Pollutants	affects expression, increases abundance, decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Atrazine	increases expression	1
Cadmium	increases expression, increases abundance	1
Cisplatin	increases expression	1
Doxorubicin	increases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1
Rifampin	increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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