ARL6IP4
gene geneOn this page
Also known as SR-25SRp25SFRS20SRrp37
Summary
ARL6IP4 (ARF like GTPase 6 interacting protein 4, HGNC:18076) is a protein-coding gene on chromosome 12q24.31, encoding ADP-ribosylation factor-like protein 6-interacting protein 4 (Q66PJ3). Involved in modulating alternative pre-mRNA splicing with either 5’ distal site activation or preferential use of 3’ proximal site.
Enables identical protein binding activity. Predicted to be involved in RNA splicing. Predicted to be located in nucleus.
Source: NCBI Gene 51329 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 96 total
- MANE Select transcript:
NM_018694
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18076 |
| Approved symbol | ARL6IP4 |
| Name | ARF like GTPase 6 interacting protein 4 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SR-25, SRp25, SFRS20, SRrp37 |
| Ensembl gene | ENSG00000182196 |
| Ensembl biotype | protein_coding |
| OMIM | 607668 |
| Entrez | 51329 |
Gene structure
Transcript identifiers
Ensembl transcripts: 84 — 75 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000315580, ENST00000357866, ENST00000392433, ENST00000392435, ENST00000412505, ENST00000413381, ENST00000426960, ENST00000439686, ENST00000442210, ENST00000453766, ENST00000454885, ENST00000456762, ENST00000536073, ENST00000536502, ENST00000539576, ENST00000539770, ENST00000540382, ENST00000540708, ENST00000542099, ENST00000543566, ENST00000853809, ENST00000853810, ENST00000853811, ENST00000853812, ENST00000853813, ENST00000853814, ENST00000853815, ENST00000853816, ENST00000853817, ENST00000853818, ENST00000853819, ENST00000853820, ENST00000853821, ENST00000853822, ENST00000853823, ENST00000853824, ENST00000853825, ENST00000853826, ENST00000853827, ENST00000853828, ENST00000853829, ENST00000853830, ENST00000853831, ENST00000853832, ENST00000853833, ENST00000853834, ENST00000853835, ENST00000853836, ENST00000853837, ENST00000853838, ENST00000853839, ENST00000853840, ENST00000853841, ENST00000853842, ENST00000853843, ENST00000853844, ENST00000853845, ENST00000853846, ENST00000853847, ENST00000853848, ENST00000853849, ENST00000853850, ENST00000853851, ENST00000853852, ENST00000853853, ENST00000853854, ENST00000853855, ENST00000925030, ENST00000925031, ENST00000925032, ENST00000925033, ENST00000925034, ENST00000925035, ENST00000925036, ENST00000925037, ENST00000925038, ENST00000925039, ENST00000925040, ENST00000962562, ENST00000962563, ENST00000962564, ENST00000962565, ENST00000962566, ENST00000962567
RefSeq mRNA: 32 — MANE Select: NM_018694
NM_001002251, NM_001278378, NM_001278379, NM_001278380, NM_001400281, NM_001400282, NM_001400283, NM_001400284, NM_001400285, NM_001400300, NM_001400301, NM_001400302, NM_001400303, NM_001400304, NM_001400305, NM_001400306, NM_001400307, NM_001400308, NM_001400309, NM_001400310, NM_001400311, NM_001400312, NM_001400313, NM_001400314, NM_001400315, NM_001400316, NM_001400317, NM_001400318, NM_001400319, NM_001400320, NM_016638, NM_018694
CCDS: CCDS31923, CCDS45004, CCDS53843, CCDS61273, CCDS91764, CCDS91765
Canonical transcript exons
ENST00000315580 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001254056 | 122981571 | 122981879 |
| ENSE00001641411 | 122982620 | 122982909 |
| ENSE00003638724 | 122981957 | 122982074 |
| ENSE00003672941 | 122981129 | 122981299 |
| ENSE00003785915 | 122982469 | 122982538 |
| ENSE00003917601 | 122980681 | 122980745 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 128.2455 / max 671.0581, expressed in 1827 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128554 | 119.1181 | 1827 |
| 128550 | 2.6225 | 1094 |
| 128556 | 2.2619 | 1319 |
| 128551 | 1.3562 | 734 |
| 128555 | 0.8008 | 448 |
| 128553 | 0.7799 | 490 |
| 128552 | 0.5816 | 358 |
| 128557 | 0.4740 | 154 |
| 128558 | 0.2505 | 85 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 99.06 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.02 | gold quality |
| amygdala | UBERON:0001876 | 98.99 | gold quality |
| temporal lobe | UBERON:0001871 | 98.98 | gold quality |
| fundus of stomach | UBERON:0001160 | 98.90 | gold quality |
| popliteal artery | UBERON:0002250 | 98.90 | gold quality |
| tibial artery | UBERON:0007610 | 98.90 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.90 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.90 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.88 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.88 | gold quality |
| prostate gland | UBERON:0002367 | 98.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.87 | gold quality |
| lower esophagus | UBERON:0013473 | 98.87 | gold quality |
| apex of heart | UBERON:0002098 | 98.86 | gold quality |
| body of stomach | UBERON:0001161 | 98.84 | gold quality |
| spleen | UBERON:0002106 | 98.84 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.84 | gold quality |
| left coronary artery | UBERON:0001626 | 98.82 | gold quality |
| left ovary | UBERON:0002119 | 98.82 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.82 | gold quality |
| right coronary artery | UBERON:0001625 | 98.81 | gold quality |
| hypothalamus | UBERON:0001898 | 98.80 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.80 | gold quality |
| endocervix | UBERON:0000458 | 98.79 | gold quality |
| body of pancreas | UBERON:0001150 | 98.79 | gold quality |
| ascending aorta | UBERON:0001496 | 98.79 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.79 | gold quality |
| frontal cortex | UBERON:0001870 | 98.79 | gold quality |
| substantia nigra | UBERON:0002038 | 98.79 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.98 |
| E-HCAD-13 | yes | 7.36 |
| E-MTAB-6142 | no | 314.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting ARL6IP4, 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-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-4640-5P | 97.42 | 66.33 | 1543 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl6ip4 | ENSDARG00000105036 |
| mus_musculus | Arl6ip4 | ENSMUSG00000029404 |
| rattus_norvegicus | Arl6ip4 | ENSRNOG00000001080 |
| drosophila_melanogaster | CG18428 | FBGN0039149 |
Protein
Protein identifiers
ADP-ribosylation factor-like protein 6-interacting protein 4 — Q66PJ3 (reviewed: Q66PJ3)
Alternative names: HSP-975, HSVI-binding protein, SR-15, SRp25, Splicing factor SRrp37
All UniProt accessions (9): Q66PJ3, A0A0A0MTG7, A0A0C4DG62, A0A0C4DH18, A0A8C8KBE9, F5GYV5, F8WCT1, F8WEP2, H7BZV4
UniProt curated annotations — full annotation on UniProt →
Function. Involved in modulating alternative pre-mRNA splicing with either 5’ distal site activation or preferential use of 3’ proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA.
Subunit / interactions. Interacts with ARL6. Interacts with ZCCHC17. Interacts with SRSF2.
Subcellular location. Nucleus. Nucleolus. Nucleus speckle.
Tissue specificity. Isoforms 3 and 7 were identified in brain, pancreas, prostate, and testis, but little or no message could be detected in other tissues.
Induction. In case of Herpes simplex virus (HSVI)-binding to cells.
Similarity. Belongs to the ARL6IP4 family.
Isoforms (10)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q66PJ3-8 | 8 | yes |
| Q66PJ3-1 | 1 | |
| Q66PJ3-2 | 2 | |
| Q66PJ3-3 | 3 | |
| Q66PJ3-4 | 4 | |
| Q66PJ3-5 | 5 | |
| Q66PJ3-6 | 6 | |
| Q66PJ3-7 | 7, SRrp37-2 | |
| Q66PJ3-9 | 9 | |
| Q66PJ3-10 | 10 |
RefSeq proteins (32): NP_001002251, NP_001265307, NP_001265308, NP_001265309, NP_001387210, NP_001387211, NP_001387212, NP_001387213, NP_001387214, NP_001387229, NP_001387230, NP_001387231, NP_001387232, NP_001387233, NP_001387234, NP_001387235, NP_001387236, NP_001387237, NP_001387238, NP_001387239, NP_001387240, NP_001387241, NP_001387242, NP_001387243, NP_001387244, NP_001387245, NP_001387246, NP_001387247, NP_001387248, NP_001387249, NP_057722, NP_061164* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019532 | Nucl_RNA-splicing_assoc_SR-25 | Family |
Pfam: PF10500
UniProt features (20 total): splice variant 8, compositionally biased region 4, modified residue 3, chain 1, region of interest 1, sequence variant 1, sequence conflict 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q66PJ3-F1 | 58.86 | 0.00 |
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 (4): 55, 148, 182, 199
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 96 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, TGCGCANK_UNKNOWN, GROSS_HYPOXIA_VIA_ELK3_UP, TCF11_01, GOBP_RNA_SPLICING, TCCAGAT_MIR5165P, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_NUCLEOLUS, chr12q24, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, MULLIGHAN_NPM1_MUTATED_SIGNATURE_1_UP, MARTENS_TRETINOIN_RESPONSE_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS
GO Biological Process (2): mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), protein binding (GO:0005515), identical protein binding (GO:0042802)
GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
910 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL6IP4 | ZFYVE1 | Q9HBF4 | 512 |
| ARL6IP4 | TMEM11 | P17152 | 474 |
| ARL6IP4 | SUB1 | P53999 | 452 |
| ARL6IP4 | OGFOD2 | Q6N063 | 449 |
| ARL6IP4 | PNISR | Q8TF01 | 426 |
| ARL6IP4 | THRAP3 | Q9Y2W1 | 418 |
| ARL6IP4 | PPIA | P05092 | 415 |
| ARL6IP4 | ATAD2B | Q9ULI0 | 412 |
| ARL6IP4 | ELP3 | Q9H9T3 | 407 |
| ARL6IP4 | RRP36 | Q96EU6 | 400 |
| ARL6IP4 | SNX19 | Q92543 | 391 |
| ARL6IP4 | MPHOSPH9 | Q99550 | 384 |
| ARL6IP4 | ENSA | O43768 | 383 |
| ARL6IP4 | ABCB9 | Q9NP78 | 370 |
| ARL6IP4 | DGKI | O75912 | 367 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3CA | PIK3R2 | psi-mi:“MI:0914”(association) | 0.900 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SRPK2 | ARL6IP4 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.690 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| ARL6IP4 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| ARL6IP4 | tax | psi-mi:“MI:0915”(physical association) | 0.490 |
| tax | ARL6IP4 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| ARL6IP4 | HNRNPM | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARL6IP4 | KRT18 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ARL6IP4 | ARL6IP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM132A | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ppp6c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DVL2 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| KIE-1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AP3B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| GAB1 | JUP | psi-mi:“MI:0914”(association) | 0.350 |
| DIPK2A | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | FAM186A | psi-mi:“MI:0914”(association) | 0.350 |
| SRPK2 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP170 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| POC5 | PDHX | psi-mi:“MI:0914”(association) | 0.350 |
| SHANK3 | IGKV3D-15 | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPA | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (162): ARL6IP4 (Two-hybrid), ARL6IP4 (Two-hybrid), ARL6IP4 (Two-hybrid), ARL6IP4 (Two-hybrid), THAP1 (Two-hybrid), JMJD6 (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), ZRANB2 (Affinity Capture-MS), EIF3J (Affinity Capture-MS), SRPK1 (Affinity Capture-MS), CCDC9 (Affinity Capture-MS), C17orf85 (Affinity Capture-MS), ZC3H14 (Affinity Capture-MS), USP7 (Affinity Capture-MS), GPALPP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S3XQD6, A0A1S4AX27, A1A5I1, A2AR02, A6QLS2, B0BN49, O35986, O55035, O95218, P30189, P30414, P30415, Q19QU3, Q27450, Q28EE8, Q2HJC9, Q3B7G7, Q3KPW4, Q4P4G8, Q4V8I5, Q4V9W2, Q502P0, Q505I5, Q5BKY9, Q5F4A9, Q5R580, Q5R8J6, Q5RJP9, Q5VTL8, Q5XHJ5, Q5ZLM8, Q5ZLX5, Q66PJ3, Q6AXY7, Q6C1V6, Q6NQD9, Q6P7Y3, Q6ZUT1, Q7L4I2, Q80SY5
Diamond homologs: Q3KPW4, Q4V8I5, Q502P0, Q5F4A9, Q66PJ3, Q9JM93
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SGK3 | “down-regulates activity” | ARL6IP4 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 84 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 |
|---|---|---|---|
| Constitutive Signaling by EGFRvIII | 5 | 64.9× | 8e-07 |
| Signaling by ERBB2 ECD mutants | 5 | 61.1× | 9e-07 |
| Tie2 Signaling | 5 | 54.6× | 1e-06 |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 5 | 51.9× | 1e-06 |
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 5 | 47.2× | 2e-06 |
| Signaling by FGFR3 in disease | 5 | 45.1× | 2e-06 |
| Signaling by ERBB2 KD Mutants | 5 | 38.5× | 5e-06 |
| Downstream signal transduction | 5 | 34.6× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 10 | 13.3× | 2e-06 |
| RNA splicing | 8 | 10.2× | 3e-04 |
| mRNA processing | 7 | 8.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1183 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:122981864:G:GT | donor_gain | 1.0000 |
| 12:122981870:G:GT | donor_gain | 1.0000 |
| 12:122981955:A:AG | acceptor_gain | 1.0000 |
| 12:122981956:G:GG | acceptor_gain | 1.0000 |
| 12:122982113:G:GT | donor_gain | 1.0000 |
| 12:122980383:GTC:G | donor_gain | 0.9900 |
| 12:122981227:A:T | donor_gain | 0.9900 |
| 12:122981241:G:GT | donor_gain | 0.9900 |
| 12:122981875:CCCAG:C | donor_loss | 0.9900 |
| 12:122981876:CCAGG:C | donor_loss | 0.9900 |
| 12:122981877:CAG:C | donor_loss | 0.9900 |
| 12:122981878:AGGT:A | donor_loss | 0.9900 |
| 12:122981879:GGT:G | donor_loss | 0.9900 |
| 12:122981881:T:G | donor_loss | 0.9900 |
| 12:122981956:GTC:G | acceptor_gain | 0.9900 |
| 12:122981956:GTCC:G | acceptor_gain | 0.9900 |
| 12:122981956:GTCCT:G | acceptor_gain | 0.9900 |
| 12:122982070:ACCAG:A | donor_loss | 0.9900 |
| 12:122982071:CCAG:C | donor_loss | 0.9900 |
| 12:122982072:CAG:C | donor_loss | 0.9900 |
| 12:122982073:AGGT:A | donor_loss | 0.9900 |
| 12:122982074:GG:G | donor_loss | 0.9900 |
| 12:122982075:G:GC | donor_loss | 0.9900 |
| 12:122981226:G:GT | donor_gain | 0.9800 |
| 12:122981242:A:T | donor_gain | 0.9800 |
| 12:122981856:C:G | donor_gain | 0.9800 |
| 12:122982047:T:TA | donor_loss | 0.9800 |
| 12:122982048:G:GA | donor_loss | 0.9800 |
| 12:122982465:CCAG:C | acceptor_loss | 0.9800 |
| 12:122982466:CA:C | acceptor_loss | 0.9800 |
AlphaMissense
2664 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:122981998:C:T | P355S | 0.999 |
| 12:122981999:C:A | P355H | 0.998 |
| 12:122982005:C:T | T357I | 0.998 |
| 12:122982018:G:C | W361C | 0.998 |
| 12:122982018:G:T | W361C | 0.998 |
| 12:122981997:G:C | K354N | 0.997 |
| 12:122981997:G:T | K354N | 0.997 |
| 12:122982002:T:C | M356T | 0.997 |
| 12:122982009:G:C | K358N | 0.997 |
| 12:122982009:G:T | K358N | 0.997 |
| 12:122982016:T:A | W361R | 0.997 |
| 12:122982016:T:C | W361R | 0.997 |
| 12:122981973:G:C | Q346H | 0.996 |
| 12:122981973:G:T | Q346H | 0.996 |
| 12:122981993:T:C | M353T | 0.996 |
| 12:122981994:G:A | M353I | 0.996 |
| 12:122981994:G:C | M353I | 0.996 |
| 12:122981994:G:T | M353I | 0.996 |
| 12:122981998:C:A | P355T | 0.996 |
| 12:122981999:C:G | P355R | 0.996 |
| 12:122981989:G:C | A352P | 0.995 |
| 12:122981995:A:G | K354E | 0.995 |
| 12:122982478:G:C | K383N | 0.995 |
| 12:122982478:G:T | K383N | 0.995 |
| 12:122982499:G:C | E390D | 0.995 |
| 12:122982499:G:T | E390D | 0.995 |
| 12:122981981:G:C | R349P | 0.994 |
| 12:122982498:A:T | E390V | 0.993 |
| 12:122982647:T:C | F413L | 0.993 |
| 12:122982649:C:A | F413L | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000828804 (12:122983190 G>A), RS1001513226 (12:122980630 C>A,T), RS1002151142 (12:122979743 G>C), RS1002178266 (12:122978285 C>T), RS1002217306 (12:122980770 C>A,G,T), RS1002250193 (12:122979435 T>C), RS1002601013 (12:122981477 C>A,G,T), RS1004976175 (12:122980761 C>A,G,T), RS1005427244 (12:122982847 C>G), RS1005540244 (12:122983095 C>T), RS1005844496 (12:122982352 A>C,G), RS1005949809 (12:122979380 G>C), RS1006848035 (12:122983275 G>C), RS1007774412 (12:122981915 C>G,T), RS1008443750 (12:122980133 A>G)
Disease associations
OMIM: gene MIM:607668 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002149_20 | Schizophrenia | 2.000000e-08 |
| GCST002539_19 | Schizophrenia | 2.000000e-14 |
| GCST004521_72 | Autism spectrum disorder or schizophrenia | 8.000000e-12 |
| GCST006803_10 | Schizophrenia | 6.000000e-16 |
| GCST007277_17 | Tourette syndrome | 2.000000e-06 |
| GCST010703_43 | Brain morphology (MOSTest) | 1.000000e-08 |
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
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, affects expression | 2 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance, affects expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vitamin E | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2S6 | Abcam HEK293T ARL6IP4 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.