ATRNL1
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Also known as KIAA0534FLJ45344ALP
Summary
ATRNL1 (attractin like 1, HGNC:29063) is a protein-coding gene on chromosome 10q25.3, encoding Attractin-like protein 1 (Q5VV63). May play a role in melanocortin signaling pathways that regulate energy homeostasis.
Predicted to enable Notch binding activity. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane.
Source: NCBI Gene 26033 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 218 total
- MANE Select transcript:
NM_207303
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29063 |
| Approved symbol | ATRNL1 |
| Name | attractin like 1 |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0534, FLJ45344, ALP |
| Ensembl gene | ENSG00000107518 |
| Ensembl biotype | protein_coding |
| OMIM | 612869 |
| Entrez | 26033 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000355044, ENST00000424738, ENST00000449616, ENST00000524503, ENST00000526373, ENST00000526946, ENST00000527407, ENST00000534530, ENST00000609571, ENST00000616894, ENST00000650603, ENST00000943847
RefSeq mRNA: 2 — MANE Select: NM_207303
NM_001276282, NM_207303
CCDS: CCDS73204, CCDS7592
Canonical transcript exons
ENST00000355044 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000986750 | 115461941 | 115462035 |
| ENSE00001234284 | 115847877 | 115847991 |
| ENSE00001234294 | 115727248 | 115727355 |
| ENSE00001598484 | 115281355 | 115281487 |
| ENSE00001603299 | 115334282 | 115334419 |
| ENSE00001619722 | 115265193 | 115265277 |
| ENSE00001650462 | 115268326 | 115268444 |
| ENSE00001732000 | 115300034 | 115300247 |
| ENSE00001763357 | 115266797 | 115267005 |
| ENSE00001769012 | 115171037 | 115171292 |
| ENSE00001794611 | 115286216 | 115286397 |
| ENSE00001803926 | 115241571 | 115241725 |
| ENSE00001956054 | 115944658 | 115948999 |
| ENSE00003493527 | 115301855 | 115302043 |
| ENSE00003496503 | 115519263 | 115519324 |
| ENSE00003499523 | 115469172 | 115469329 |
| ENSE00003538216 | 115467174 | 115467252 |
| ENSE00003559078 | 115215697 | 115215880 |
| ENSE00003651669 | 115426250 | 115426302 |
| ENSE00003661812 | 115549458 | 115549536 |
| ENSE00003664106 | 115315518 | 115315736 |
| ENSE00003674296 | 115394659 | 115394752 |
| ENSE00003702472 | 115127593 | 115127721 |
| ENSE00003703573 | 115093365 | 115094043 |
| ENSE00003704837 | 115160040 | 115160214 |
| ENSE00003705579 | 115165558 | 115165645 |
| ENSE00003706493 | 115129327 | 115129535 |
| ENSE00003708238 | 115121699 | 115121812 |
| ENSE00003709427 | 115120185 | 115120268 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 97.99.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9737 / max 143.5361, expressed in 672 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107175 | 1.3698 | 437 |
| 107174 | 0.9210 | 219 |
| 107176 | 0.8534 | 319 |
| 107177 | 0.5521 | 223 |
| 206001 | 0.1638 | 70 |
| 107173 | 0.1136 | 54 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 97.99 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.60 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.75 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.31 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 91.06 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.06 | gold quality |
| frontal pole | UBERON:0002795 | 89.87 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.93 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.86 | gold quality |
| cortical plate | UBERON:0005343 | 88.61 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.27 | gold quality |
| parietal lobe | UBERON:0001872 | 88.11 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.04 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.79 | gold quality |
| frontal cortex | UBERON:0001870 | 87.75 | gold quality |
| occipital lobe | UBERON:0002021 | 86.81 | gold quality |
| neocortex | UBERON:0001950 | 86.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.66 | gold quality |
| endothelial cell | CL:0000115 | 85.20 | gold quality |
| cerebral cortex | UBERON:0000956 | 85.14 | gold quality |
| secondary oocyte | CL:0000655 | 84.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 84.45 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 84.20 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.04 | gold quality |
| cingulate cortex | UBERON:0003027 | 83.25 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 83.14 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.91 | gold quality |
| telencephalon | UBERON:0001893 | 81.57 | gold quality |
| entorhinal cortex | UBERON:0002728 | 81.37 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 1945.86 |
| E-HCAD-35 | yes | 107.71 |
| E-GEOD-75688 | yes | 88.48 |
| E-ANND-3 | yes | 5.31 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
200 targeting ATRNL1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
Literature-anchored findings (GeneRIF, showing 2)
- Transgenic overexpression of Attractin-like-1 (Atrnl1), which compensates for loss of ATRN, does not rescue dark-like mutant phenotypes. (PMID:18821597)
- Transcriptional factor CCAAT enhancer binding protein beta inhibits epithelial-mesenchymal transition in cervical cancer via regulating attractin-like 1. (PMID:38158696)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atrnl1b | ENSDARG00000006420 |
| danio_rerio | atrnl1a | ENSDARG00000077188 |
| mus_musculus | Atrnl1 | ENSMUSG00000054843 |
| rattus_norvegicus | Atrnl1 | ENSRNOG00000017406 |
Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)
Protein
Protein identifiers
Attractin-like protein 1 — Q5VV63 (reviewed: Q5VV63)
All UniProt accessions (6): Q5VV63, A0A087X0X7, A0A3B3ISV6, E9PL90, H0YDQ9, R4GMZ1
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in melanocortin signaling pathways that regulate energy homeostasis.
Subunit / interactions. Interacts with MC4R.
Subcellular location. Membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VV63-1 | 1 | yes |
| Q5VV63-2 | 2 |
RefSeq proteins (2): NP_001263211, NP_997186* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR000859 | CUB_dom | Domain |
| IPR001304 | C-type_lectin-like | Domain |
| IPR002049 | LE_dom | Domain |
| IPR002165 | Plexin_repeat | Repeat |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR016201 | PSI | Domain |
| IPR034011 | Attractin-like_CTLD | Domain |
| IPR035914 | Sperma_CUB_dom_sf | Homologous_superfamily |
| IPR051568 | LZTR1/Attractin | Family |
| IPR056732 | GBD_ATRN | Domain |
| IPR056737 | Beta-prop_ATRN-MKLN-like | Domain |
| IPR056863 | LMN_ATRN_NET-like_EGF | Domain |
Pfam: PF00431, PF01437, PF23106, PF24972, PF24973, PF24981
UniProt features (50 total): disulfide bond 15, domain 11, glycosylation site 8, repeat 6, topological domain 2, region of interest 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VV63-F1 | 80.91 | 0.41 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (15): 63–79, 81–90, 93–119, 211–221, 215–233, 235–244, 776–872, 1014–1022, 1016–1028, 1031–1040, 1043–1057, 1060–1069, 1062–1076, 1078–1088, 1091–1106
Glycosylation sites (8): 76, 174, 198, 380, 763, 778, 898, 1157
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
GOZGIT_ESR1_TARGETS_DN, MORF_ZNF10, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BILD_E2F3_ONCOGENIC_SIGNATURE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, HTF_01, SCHLOSSER_SERUM_RESPONSE_DN, MORF_EPHA7, MORF_RAB3A, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MORF_WNT1, FOXJ2_02, GOMF_SIGNALING_RECEPTOR_BINDING, SOX5_01, MORF_IL9
GO Biological Process (1): G protein-coupled receptor signaling pathway (GO:0007186)
GO Molecular Function (3): Notch binding (GO:0005112), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| signaling receptor binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
830 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATRNL1 | MC4R | P32245 | 595 |
| ATRNL1 | MC1R | Q01726 | 595 |
| ATRNL1 | ANKRD61 | A6NGH8 | 411 |
| ATRNL1 | FHIP2A | Q5W0V3 | 391 |
| ATRNL1 | SLCO6A1 | Q86UG4 | 389 |
| ATRNL1 | RNF157 | Q96PX1 | 374 |
| ATRNL1 | GRAMD2B | Q96HH9 | 351 |
| ATRNL1 | TTR | P02766 | 348 |
| ATRNL1 | THRA | P10827 | 348 |
| ATRNL1 | SLX4IP | Q5VYV7 | 348 |
| ATRNL1 | BCS1L | Q9Y276 | 348 |
| ATRNL1 | COL3A1 | P02461 | 347 |
| ATRNL1 | TMEM216 | Q9P0N5 | 347 |
| ATRNL1 | SLC30A5 | Q8TAD4 | 345 |
| ATRNL1 | BCL3 | P20749 | 343 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANKRD46 | ATRN | psi-mi:“MI:0914”(association) | 0.640 |
| ATRNL1 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | MAGI1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | APBA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | HTRA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | TJP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | RADIL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATRNL1 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (28): ATRNL1 (Proximity Label-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Two-hybrid), ATRNL1 (Two-hybrid), SLC12A4 (Co-fractionation), CLCN4 (Co-fractionation), LNPEP (Co-fractionation), CLCN3 (Co-fractionation), CLCN5 (Co-fractionation), LYSMD4 (Co-fractionation)
ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9
Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 90 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 |
|---|---|---|---|
| Dopamine Neurotransmitter Release Cycle | 5 | 43.5× | 6e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 40.1× | 1e-10 |
| Neurexins and neuroligins | 11 | 38.0× | 9e-13 |
| Protein-protein interactions at synapses | 7 | 32.6× | 1e-07 |
| Neuronal System | 7 | 5.4× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 66.8× | 1e-13 |
| protein localization to synapse | 6 | 52.8× | 2e-07 |
| receptor clustering | 6 | 43.0× | 6e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 39.9× | 1e-07 |
| protein-containing complex assembly | 9 | 11.8× | 7e-06 |
| cell-cell adhesion | 9 | 10.5× | 2e-05 |
| chemical synaptic transmission | 7 | 6.2× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
218 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 189 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6845 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:115120180:TCCA:T | acceptor_loss | 1.0000 |
| 10:115120182:CAG:C | acceptor_loss | 1.0000 |
| 10:115120184:G:GC | acceptor_loss | 1.0000 |
| 10:115120265:GCTA:G | donor_gain | 1.0000 |
| 10:115120266:CTA:C | donor_gain | 1.0000 |
| 10:115120269:G:GG | donor_gain | 1.0000 |
| 10:115127591:A:AG | acceptor_gain | 1.0000 |
| 10:115127591:AGT:A | acceptor_gain | 1.0000 |
| 10:115127592:G:GG | acceptor_gain | 1.0000 |
| 10:115127592:GT:G | acceptor_gain | 1.0000 |
| 10:115127592:GTG:G | acceptor_gain | 1.0000 |
| 10:115127717:TATTC:T | donor_gain | 1.0000 |
| 10:115127718:ATTC:A | donor_gain | 1.0000 |
| 10:115127718:ATTCG:A | donor_loss | 1.0000 |
| 10:115127719:TTC:T | donor_gain | 1.0000 |
| 10:115127719:TTCGT:T | donor_loss | 1.0000 |
| 10:115127720:TC:T | donor_gain | 1.0000 |
| 10:115127721:CG:C | donor_loss | 1.0000 |
| 10:115127722:G:GG | donor_gain | 1.0000 |
| 10:115127722:G:T | donor_loss | 1.0000 |
| 10:115127723:T:TC | donor_loss | 1.0000 |
| 10:115127724:A:AT | donor_loss | 1.0000 |
| 10:115127725:A:AC | donor_loss | 1.0000 |
| 10:115129325:A:AG | acceptor_gain | 1.0000 |
| 10:115129326:G:GG | acceptor_gain | 1.0000 |
| 10:115129533:AAGG:A | donor_loss | 1.0000 |
| 10:115129534:AGGTA:A | donor_loss | 1.0000 |
| 10:115129536:G:GA | donor_loss | 1.0000 |
| 10:115129537:T:A | donor_loss | 1.0000 |
| 10:115160208:TCCTA:T | donor_gain | 1.0000 |
AlphaMissense
9105 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:115094005:G:C | W85C | 1.000 |
| 10:115094005:G:T | W85C | 1.000 |
| 10:115094027:T:C | C93R | 1.000 |
| 10:115120246:T:A | C119S | 1.000 |
| 10:115120246:T:C | C119R | 1.000 |
| 10:115120247:G:C | C119S | 1.000 |
| 10:115120248:T:G | C119W | 1.000 |
| 10:115120252:T:A | W121R | 1.000 |
| 10:115120252:T:C | W121R | 1.000 |
| 10:115120254:G:C | W121C | 1.000 |
| 10:115120254:G:T | W121C | 1.000 |
| 10:115120256:T:C | L122P | 1.000 |
| 10:115121745:T:A | C142S | 1.000 |
| 10:115121745:T:C | C142R | 1.000 |
| 10:115121746:G:A | C142Y | 1.000 |
| 10:115121746:G:C | C142S | 1.000 |
| 10:115121747:T:G | C142W | 1.000 |
| 10:115121751:T:A | W144R | 1.000 |
| 10:115121751:T:C | W144R | 1.000 |
| 10:115121753:G:C | W144C | 1.000 |
| 10:115121753:G:T | W144C | 1.000 |
| 10:115121754:G:C | D145H | 1.000 |
| 10:115121755:A:C | D145A | 1.000 |
| 10:115121755:A:G | D145G | 1.000 |
| 10:115121755:A:T | D145V | 1.000 |
| 10:115127678:A:C | S193R | 1.000 |
| 10:115127679:G:T | S193I | 1.000 |
| 10:115127680:T:A | S193R | 1.000 |
| 10:115127680:T:G | S193R | 1.000 |
| 10:115127682:A:C | D194A | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003588 (10:115263847 G>A), RS1000010329 (10:115306001 A>G), RS1000014958 (10:115771380 G>A), RS1000015281 (10:115890567 T>G), RS1000018477 (10:115848254 C>T), RS1000019924 (10:115478183 C>G), RS1000023893 (10:115171620 C>G), RS1000024239 (10:115454152 A>G), RS1000024523 (10:115608738 T>C), RS1000028516 (10:115132190 T>C), RS1000035866 (10:115373836 T>A), RS1000037839 (10:115933401 A>G), RS1000066874 (10:115113025 A>C,G), RS1000083498 (10:115305710 T>C), RS1000100570 (10:115432370 A>C,G)
Disease associations
OMIM: gene MIM:612869 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000905_15 | Information processing speed | 2.000000e-06 |
| GCST003993_42 | Menarche (age at onset) | 3.000000e-09 |
| GCST004162_10 | Carotid plaque burden | 9.000000e-06 |
| GCST004691_18 | Huntington’s disease progression | 9.000000e-06 |
| GCST007239_18 | Ovarian cancer | 8.000000e-06 |
| GCST007325_146 | General risk tolerance (MTAG) | 3.000000e-12 |
| GCST007325_207 | General risk tolerance (MTAG) | 2.000000e-08 |
| GCST008368_8 | Plasma anti-thyroid peroxidase levels | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004363 | information processing speed |
| EFO:0004703 | age at menarche |
| EFO:0006501 | carotid plaque build |
| EFO:0008336 | disease progression measurement |
| EFO:0008579 | risk-taking behaviour |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 8 |
| trichostatin A | increases expression | 2 |
| Doxorubicin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| bazedoxifene | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Boron | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Parathion | increases methylation | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Huntington disease