ACTR1B
gene geneOn this page
Also known as Arp1B
Summary
ACTR1B (actin related protein 1B, HGNC:168) is a protein-coding gene on chromosome 2q11.2, encoding Beta-centractin (P42025). Component of a multi-subunit complex involved in microtubule based vesicle motility.
This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and 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, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex.
Source: NCBI Gene 10120 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 85 total — 3 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_005735
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:168 |
| Approved symbol | ACTR1B |
| Name | actin related protein 1B |
| Location | 2q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Arp1B |
| Ensembl gene | ENSG00000115073 |
| Ensembl biotype | protein_coding |
| OMIM | 605144 |
| Entrez | 10120 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron
ENST00000289228, ENST00000451664, ENST00000460427, ENST00000855773, ENST00000855774, ENST00000855775, ENST00000855776, ENST00000855777, ENST00000855778, ENST00000936775, ENST00000936776, ENST00000936777, ENST00000936778
RefSeq mRNA: 1 — MANE Select: NM_005735
NM_005735
CCDS: CCDS2033
Canonical transcript exons
ENST00000289228 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000771300 | 97658427 | 97658643 |
| ENSE00000771302 | 97657943 | 97658117 |
| ENSE00000771304 | 97657152 | 97657192 |
| ENSE00000804145 | 97655939 | 97656960 |
| ENSE00001346652 | 97663843 | 97664044 |
| ENSE00002449288 | 97657448 | 97657509 |
| ENSE00002463641 | 97658879 | 97659003 |
| ENSE00003508567 | 97659352 | 97659477 |
| ENSE00003575161 | 97661882 | 97661946 |
| ENSE00003635234 | 97660571 | 97660646 |
| ENSE00003656694 | 97658224 | 97658316 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 97.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1656 / max 88.9980, expressed in 1803 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29820 | 15.1656 | 1803 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right frontal lobe | UBERON:0002810 | 97.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.38 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.94 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.90 | gold quality |
| body of pancreas | UBERON:0001150 | 96.61 | gold quality |
| apex of heart | UBERON:0002098 | 96.28 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.28 | gold quality |
| right uterine tube | UBERON:0001302 | 96.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.21 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.20 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.15 | gold quality |
| cerebellum | UBERON:0002037 | 96.11 | gold quality |
| body of uterus | UBERON:0009853 | 96.09 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.05 | gold quality |
| body of stomach | UBERON:0001161 | 95.89 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.81 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.79 | gold quality |
| left ovary | UBERON:0002119 | 95.79 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.73 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.65 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.64 | gold quality |
| lower esophagus | UBERON:0013473 | 95.63 | gold quality |
| right ovary | UBERON:0002118 | 95.62 | gold quality |
| ascending aorta | UBERON:0001496 | 95.61 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.61 | gold quality |
| left uterine tube | UBERON:0001303 | 95.59 | gold quality |
| frontal cortex | UBERON:0001870 | 95.57 | gold quality |
| frontal lobe | UBERON:0016525 | 95.57 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting ACTR1B, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-6873-5P | 98.45 | 66.14 | 1417 |
| HSA-MIR-6826-3P | 98.19 | 66.32 | 1153 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-7154-3P | 97.65 | 65.02 | 985 |
Literature-anchored findings (GeneRIF, showing 2)
- Down-regulation of beta-centractin is associated with hepatocellular carcinoma immune escape (PMID:17619203)
- Data show that 4-oxo-4-HPR inhibited tubulin polymerization and modulated gene expression of spindle aberration associated genes Kif 1C, Kif 2A, Eg5, Tara, tankyrase-1, centractin, and TOGp. (PMID:19996280)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Actr1b | ENSMUSG00000037351 |
| rattus_norvegicus | Actr1b | ENSRNOG00000016789 |
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), 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
Beta-centractin — P42025 (reviewed: P42025)
Alternative names: Actin-related protein 1B
All UniProt accessions (1): P42025
UniProt curated annotations — full annotation on UniProt →
Function. Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Similarity. Belongs to the actin family. ARP1 subfamily.
RefSeq proteins (1): NP_005726* (*=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 (5 total): modified residue 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P42025-F1 | 93.34 | 0.86 |
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): 1, 4
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 144 (showing top):
TAATAAT_MIR126, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, BROWNE_HCMV_INFECTION_48HR_DN, GOCC_CENTROSOME, MODULE_98, LEE_AGING_MUSCLE_UP, GOCC_SECRETORY_VESICLE, GOCC_VESICLE_LUMEN, MODULE_438, BLALOCK_ALZHEIMERS_DISEASE_DN
GO Biological Process (0):
GO Molecular Function (3): ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (11): extracellular region (GO:0005576), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), dynactin complex (GO:0005869), membrane (GO:0016020), secretory granule lumen (GO:0034774), extracellular exosome (GO:0070062), ficolin-1-rich granule lumen (GO:1904813), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Immune System | 2 |
| Adaptive Immune System | 1 |
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| 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 |
| cytoplasm | 1 |
| microtubule associated complex | 1 |
| actin cytoskeleton | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle lumen | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| ficolin-1-rich granule | 1 |
| microtubule cytoskeleton | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
3261 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTR1B | DCTN2 | Q13561 | 726 |
| ACTR1B | MYO1A | Q9UBC5 | 715 |
| ACTR1B | OTP | Q5XKR4 | 665 |
| ACTR1B | DCTN4 | Q9UJW0 | 649 |
| ACTR1B | DCTN1 | Q14203 | 634 |
| ACTR1B | CAPZA2 | P47755 | 559 |
| ACTR1B | CAPZA1 | P52907 | 548 |
| ACTR1B | CAPZB | P47756 | 538 |
| ACTR1B | PITX1 | P78337 | 507 |
| ACTR1B | RNF181 | Q9P0P0 | 506 |
| ACTR1B | DCTN3 | O75935 | 502 |
| ACTR1B | OTX1 | P32242 | 490 |
| ACTR1B | ARHGDIA | P52565 | 452 |
| ACTR1B | PITX2 | Q99697 | 451 |
| ACTR1B | DCTN6 | O00399 | 441 |
IntAct
110 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| 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 |
| DCTN1 | DCTN3 | psi-mi:“MI:0914”(association) | 0.710 |
| DYNC1I2 | DYNC1LI2 | psi-mi:“MI:0914”(association) | 0.680 |
| ACTR1B | DCTN1 | psi-mi:“MI:0915”(physical association) | 0.650 |
| MIS18A | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT2 | PPP6C | 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 |
| Dctn2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.560 |
| ACTR1B | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
| UQCRH | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS19BP1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| BMERB1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFB127 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DCTN6 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (210): ACTR1B (Two-hybrid), ACTR1B (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), ACTR1B (Affinity Capture-MS), DCTN3 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), DCTN4 (Affinity Capture-MS), ACTR1A (Affinity Capture-MS), ACTR10 (Affinity Capture-MS), DCTN5 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), DCTN6 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS), CCT7 (Affinity Capture-MS)
ESM2 similar proteins: A2WNB0, A2XMK6, A2YUL5, A3ANB5, A4FUX8, A4IFE3, F2Z5G5, O94241, O94630, O94805, O96019, O96621, P02583, P32381, P38673, P42025, P45888, P45889, P45890, P45891, P47117, P51775, P53489, P85515, P86173, Q09443, Q09849, Q0IEG8, Q2TA43, Q4R333, Q4R6J9, Q54I79, Q5BL41, Q5NBI2, Q61JZ2, Q6AY16, Q6C982, Q6Z256, Q74ZV8, Q7ZTP2
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 89 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 | 11 | 36.2× | 2e-12 |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 11 | 33.8× | 3e-12 |
| Sensory processing of sound | 5 | 24.5× | 9e-05 |
| COPI-mediated anterograde transport | 11 | 19.2× | 8e-10 |
| MHC class II antigen presentation | 12 | 17.0× | 5e-10 |
| Sensory processing of sound by inner hair cells of the cochlea | 6 | 15.5× | 1e-04 |
| Loss of Nlp from mitotic centrosomes | 6 | 15.1× | 1e-04 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 6 | 15.1× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| axonogenesis | 5 | 10.6× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 56 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 394206 | GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) | Pathogenic |
| 395690 | GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) | Pathogenic |
| 59145 | GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 | Pathogenic |
| 2685857 | GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 | Likely pathogenic |
SpliceAI
2097 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:97656958:CCG:C | acceptor_gain | 1.0000 |
| 2:97656959:CG:C | acceptor_gain | 1.0000 |
| 2:97656959:CGC:C | acceptor_gain | 1.0000 |
| 2:97656961:C:CC | acceptor_gain | 1.0000 |
| 2:97657442:CCTCA:C | donor_loss | 1.0000 |
| 2:97657443:CTCAC:C | donor_loss | 1.0000 |
| 2:97657444:TCA:T | donor_loss | 1.0000 |
| 2:97657445:CAC:C | donor_loss | 1.0000 |
| 2:97657446:A:AC | donor_gain | 1.0000 |
| 2:97657447:C:CC | donor_gain | 1.0000 |
| 2:97657508:GCC:G | acceptor_loss | 1.0000 |
| 2:97657509:CCTG:C | acceptor_loss | 1.0000 |
| 2:97657510:C:CC | acceptor_gain | 1.0000 |
| 2:97657510:CTGTG:C | acceptor_loss | 1.0000 |
| 2:97657939:GTA:G | donor_loss | 1.0000 |
| 2:97657940:TA:T | donor_loss | 1.0000 |
| 2:97658098:C:CT | acceptor_gain | 1.0000 |
| 2:97658217:CACTT:C | donor_loss | 1.0000 |
| 2:97658218:ACTT:A | donor_loss | 1.0000 |
| 2:97658219:CTT:C | donor_loss | 1.0000 |
| 2:97658220:TTA:T | donor_loss | 1.0000 |
| 2:97658221:TACAT:T | donor_loss | 1.0000 |
| 2:97658222:A:AC | donor_gain | 1.0000 |
| 2:97658222:ACA:A | donor_loss | 1.0000 |
| 2:97658223:C:CT | donor_gain | 1.0000 |
| 2:97658223:CA:C | donor_gain | 1.0000 |
| 2:97658223:CAT:C | donor_gain | 1.0000 |
| 2:97658223:CATCA:C | donor_gain | 1.0000 |
| 2:97658312:GCTCG:G | acceptor_gain | 1.0000 |
| 2:97658313:CTCG:C | acceptor_gain | 1.0000 |
AlphaMissense
2443 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:97656958:C:T | G344D | 1.000 |
| 2:97657152:C:T | G343D | 1.000 |
| 2:97656930:A:C | F353L | 0.999 |
| 2:97656930:A:T | F353L | 0.999 |
| 2:97656932:A:G | F353L | 0.999 |
| 2:97656940:A:G | L350P | 0.999 |
| 2:97656946:G:T | A348D | 0.999 |
| 2:97656949:A:G | L347P | 0.999 |
| 2:97656959:C:G | G344R | 0.999 |
| 2:97657153:C:A | G343C | 0.999 |
| 2:97657153:C:G | G343R | 0.999 |
| 2:97657159:A:G | W341R | 0.999 |
| 2:97657159:A:T | W341R | 0.999 |
| 2:97657497:C:G | R313P | 0.999 |
| 2:97658430:T:A | K218N | 0.999 |
| 2:97658430:T:G | K218N | 0.999 |
| 2:97658562:A:C | F174L | 0.999 |
| 2:97658562:A:T | F174L | 0.999 |
| 2:97658564:A:G | F174L | 0.999 |
| 2:97658620:C:T | G155E | 0.999 |
| 2:97658639:C:G | A149P | 0.999 |
| 2:97658881:A:C | S146R | 0.999 |
| 2:97658881:A:T | S146R | 0.999 |
| 2:97658883:T:G | S146R | 0.999 |
| 2:97658993:A:G | L109P | 0.999 |
| 2:97659399:A:G | W90R | 0.999 |
| 2:97659399:A:T | W90R | 0.999 |
| 2:97659420:A:G | W83R | 0.999 |
| 2:97659420:A:T | W83R | 0.999 |
| 2:97661929:T:A | K22N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000420174 (2:97656499 C>G), RS1000524736 (2:97656004 GTTT>G,GTT), RS1000797664 (2:97661564 C>T), RS1000849924 (2:97661282 T>C), RS1001400126 (2:97660905 A>G), RS1001444121 (2:97660712 C>T), RS1001692163 (2:97655610 C>T), RS1002265733 (2:97662953 C>A,T), RS1002564841 (2:97664269 G>A,C), RS1002580055 (2:97658167 C>G,T), RS1002641219 (2:97662643 G>A,T), RS1002791733 (2:97664372 G>A), RS1003007775 (2:97664565 A>G), RS1003220741 (2:97665496 G>A), RS1003579374 (2:97665882 ATCC>A)
Disease associations
OMIM: gene MIM:605144 | disease phenotypes: MIM:126800
GenCC curated gene-disease
Mondo (1): Duane retraction syndrome (MONDO:0007473)
Orphanet (1): Duane retraction syndrome (Orphanet:233)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007328_33 | Alcohol consumption (drinks per week) | 2.000000e-10 |
| GCST008103_128 | Bipolar disorder | 2.000000e-06 |
| GCST008522_43 | Bitter alcoholic beverage consumption | 4.000000e-09 |
| GCST010697_1 | Cortical surface area (min-P) | 6.000000e-12 |
| GCST010698_17 | Subcortical volume (min-P) | 9.000000e-09 |
| GCST010699_105 | Brain morphology (min-P) | 2.000000e-11 |
| GCST010700_9 | Cortical thickness (MOSTest) | 9.000000e-14 |
| GCST010701_54 | Cortical surface area (MOSTest) | 2.000000e-16 |
| GCST010702_79 | Subcortical volume (MOSTest) | 5.000000e-09 |
| GCST010703_322 | Brain morphology (MOSTest) | 1.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004370 | Duane Retraction Syndrome | C10.292.562.700.375.500; C11.270.235; C11.590.436.400.500; C16.320.290.235 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 4 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 2 |
| ginger extract | decreases expression, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| CC-8490 | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Atrazine | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | decreases expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Quercetin | increases expression | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tamoxifen | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03059420 | Not specified | RECRUITING | Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Duane retraction syndrome