ARMC8
gene geneOn this page
Also known as HSPC056DKFZP434A043GID5VID28
Summary
ARMC8 (armadillo repeat containing 8, HGNC:24999) is a protein-coding gene on chromosome 3q22.3, encoding Armadillo repeat-containing protein 8 (Q8IUR7). Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.
Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol and nucleoplasm. Part of ubiquitin ligase complex.
Source: NCBI Gene 25852 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 88 total
- MANE Select transcript:
NM_001363941
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24999 |
| Approved symbol | ARMC8 |
| Name | armadillo repeat containing 8 |
| Location | 3q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC056, DKFZP434A043, GID5, VID28 |
| Ensembl gene | ENSG00000114098 |
| Ensembl biotype | protein_coding |
| OMIM | 618521 |
| Entrez | 25852 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 24 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay
ENST00000358441, ENST00000460495, ENST00000461600, ENST00000461822, ENST00000463485, ENST00000464181, ENST00000466749, ENST00000466762, ENST00000468560, ENST00000469044, ENST00000469860, ENST00000470549, ENST00000470821, ENST00000470842, ENST00000471453, ENST00000471709, ENST00000481646, ENST00000485396, ENST00000486832, ENST00000489213, ENST00000491704, ENST00000494015, ENST00000538260, ENST00000878615, ENST00000878616, ENST00000878617, ENST00000926886, ENST00000941952, ENST00000941953, ENST00000941954
RefSeq mRNA: 8 — MANE Select: NM_001363941
NM_001267041, NM_001267042, NM_001282342, NM_001363941, NM_001363942, NM_014154, NM_015396, NM_213654
CCDS: CCDS3098, CCDS54646, CCDS58853, CCDS58854, CCDS75020, CCDS87139, CCDS87140
Canonical transcript exons
ENST00000469044 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000525807 | 138228918 | 138229010 |
| ENSE00000778741 | 138235034 | 138235114 |
| ENSE00000794877 | 138209817 | 138209893 |
| ENSE00001240600 | 138237309 | 138237384 |
| ENSE00001851486 | 138187301 | 138187599 |
| ENSE00001920492 | 138295859 | 138298373 |
| ENSE00003475513 | 138264131 | 138264212 |
| ENSE00003484507 | 138290546 | 138290639 |
| ENSE00003487060 | 138284431 | 138284526 |
| ENSE00003498636 | 138274449 | 138274544 |
| ENSE00003559903 | 138223389 | 138223531 |
| ENSE00003576062 | 138289048 | 138289120 |
| ENSE00003581869 | 138270040 | 138270132 |
| ENSE00003605618 | 138267155 | 138267241 |
| ENSE00003607236 | 138263739 | 138263821 |
| ENSE00003607896 | 138223636 | 138223733 |
| ENSE00003632508 | 138245088 | 138245183 |
| ENSE00003649949 | 138239468 | 138239528 |
| ENSE00003684146 | 138221926 | 138221997 |
| ENSE00003688557 | 138272967 | 138273116 |
| ENSE00003692678 | 138241783 | 138241983 |
| ENSE00003787617 | 138237482 | 138237572 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 97.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.1258 / max 372.8987, expressed in 1815 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38779 | 21.7583 | 1788 |
| 38778 | 6.9361 | 1719 |
| 38777 | 4.4314 | 1561 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 97.84 | gold quality |
| secondary oocyte | CL:0000655 | 97.46 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.16 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.80 | gold quality |
| cerebellum | UBERON:0002037 | 94.11 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.41 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.90 | gold quality |
| bone marrow cell | CL:0002092 | 92.72 | gold quality |
| muscle of leg | UBERON:0001383 | 92.72 | gold quality |
| popliteal artery | UBERON:0002250 | 92.47 | gold quality |
| tibial artery | UBERON:0007610 | 92.47 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 92.44 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.40 | gold quality |
| cortical plate | UBERON:0005343 | 92.26 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.22 | gold quality |
| lower esophagus | UBERON:0013473 | 92.20 | gold quality |
| biceps brachii | UBERON:0001507 | 92.19 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.04 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.00 | gold quality |
| left coronary artery | UBERON:0001626 | 91.83 | gold quality |
| aorta | UBERON:0000947 | 91.78 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.78 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.72 | gold quality |
| muscle organ | UBERON:0001630 | 91.51 | gold quality |
| monocyte | CL:0000576 | 91.48 | gold quality |
| mononuclear cell | CL:0000842 | 91.40 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.33 | gold quality |
| leukocyte | CL:0000738 | 91.32 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.20 |
| E-MTAB-6142 | no | 195.34 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
193 targeting ARMC8, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
Literature-anchored findings (GeneRIF, showing 10)
- RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells (PMID:17467196)
- Data suggest that armadillo repeat containing protein 8 (ARMC8) might serve as a therapeutic target in non-small cell lung cancer (NSCLC). (PMID:24894675)
- Armc8 expression was elevated during atypia-to-carcinoma progression and associated with cancer development of breast carcinoma. (PMID:25119601)
- invasiveness and migration capacity of HT29 cells transfected with ARMc8 were significantly greater than those of control cells (p < 0.001), while ARMc8 siRNA treatment significantly reduced cell invasion and migration in LoVo cells (PMID:26081621)
- ARMc8 may enhance the invasion and metastasis of ovarian cancer cells (PMID:26232863)
- results indicate that Armc8 may be a potential cancer marker in hepatocellular carcinoma (PMID:26944057)
- Knockdown of ARMC8 significantly inhibited osteosarcoma cell proliferation in vitro and markedly inhibited xenograft tumor growth in vivo. ARMC8 silencing also suppressed the epithelial-mesenchymal transition (EMT) phenotype, as well as inhibited the migration and invasion of osteosarcoma cells. (PMID:27712595)
- Armc8 is an evolutionarily conserved armadillo protein involved in cell-cell adhesion complexes through multiple molecular interactions. (PMID:30482882)
- Downregulation of ARMC8 promotes tumorigenesis through activating Wnt/beta-catenin pathway and EMT in cutaneous squamous cell carcinomas. (PMID:34016486)
- MiR-455-3p inhibits gastric cancer progression by repressing Wnt/beta-catenin signaling through binding to ARMC8. (PMID:37400847)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | armc8 | ENSDARG00000062258 |
| mus_musculus | Armc8 | ENSMUSG00000032468 |
| rattus_norvegicus | Armc8 | ENSRNOG00000014521 |
Protein
Protein identifiers
Armadillo repeat-containing protein 8 — Q8IUR7 (reviewed: Q8IUR7)
All UniProt accessions (12): Q8IUR7, B7Z637, C9J2I1, C9J625, C9J8P8, C9JAA7, C9JBY2, G5E9V6, G5E9V7, H7C4J4, H7C5B7, H7C5H2
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.
Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles.
Subcellular location. Nucleus. Cytoplasm.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IUR7-1 | 1 | yes |
| Q8IUR7-2 | 2 | |
| Q8IUR7-3 | 3 | |
| Q8IUR7-6 | 6 | |
| Q8IUR7-7 | 7 | |
| Q8IUR7-8 | 8 |
RefSeq proteins (8): NP_001253970, NP_001253971, NP_001269271, NP_001350870, NP_001350871, NP_054873, NP_056211, NP_998819 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000225 | Armadillo | Repeat |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR038739 | ARMC8/Vid28 | Family |
Pfam: PF00514
UniProt features (87 total): helix 42, repeat 14, strand 10, sequence conflict 8, splice variant 6, modified residue 3, turn 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7NSC | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUR7-F1 | 94.16 | 0.92 |
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 (3): 2, 337, 512
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9861718 | Regulation of pyruvate metabolism |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-70268 | Pyruvate metabolism |
MSigDB gene sets: 248 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, REACTOME_INNATE_IMMUNE_SYSTEM, TGCGCANK_UNKNOWN, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, ATACCTC_MIR202, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACTGCAG_MIR173P, GGGTGGRR_PAX4_03, GTACAGG_MIR486, CAGCTG_AP4_Q5, YY1_Q6, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, FOSTER_TOLERANT_MACROPHAGE_UP
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): ubiquitin ligase complex (GO:0000151), extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), GID complex (GO:0034657), specific granule lumen (GO:0035580), tertiary granule lumen (GO:1904724)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Pyruvate metabolism | 1 |
| Metabolism | 1 |
| Immune System | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| ubiquitin ligase complex | 1 |
| secretory granule lumen | 1 |
| specific granule | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
Protein interactions and networks
STRING
1128 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARMC8 | GID8 | Q9NWU2 | 985 |
| ARMC8 | RMND5A | Q9H871 | 948 |
| ARMC8 | GID4 | Q8IVV7 | 941 |
| ARMC8 | WDR26 | Q9H7D7 | 932 |
| ARMC8 | RMND5B | Q96G75 | 894 |
| ARMC8 | MAEA | Q7L5Y9 | 870 |
| ARMC8 | RANBP10 | Q6VN20 | 804 |
| ARMC8 | RANBP9 | Q96S59 | 734 |
| ARMC8 | MKLN1 | Q9UL63 | 726 |
| ARMC8 | YPEL5 | P62699 | 674 |
| ARMC8 | DDX50 | Q9BQ39 | 646 |
| ARMC8 | DDX21 | Q9NR30 | 608 |
| ARMC8 | ZMYND19 | Q96E35 | 607 |
| ARMC8 | UBE2H | P37286 | 594 |
| ARMC8 | WDR37 | Q9Y2I8 | 588 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRKCZ | PRKCI | psi-mi:“MI:0914”(association) | 0.890 |
| BAIAP2 | YWHAZ | psi-mi:“MI:0914”(association) | 0.800 |
| ARMC8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| EGFR | CTNND1 | psi-mi:“MI:0914”(association) | 0.750 |
| ZMYND19 | TNFAIP1 | psi-mi:“MI:0914”(association) | 0.670 |
| RANBP10 | MAEA | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP9 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| MPP2 | LIN7A | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| GID8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.610 |
| ARMC8 | TCF12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF12 | ARMC8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNNT1 | ARMC8 | psi-mi:“MI:0915”(physical association) | 0.550 |
| INSL6 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| TIGD5 | P4HA2 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| CBFA2T3 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.530 |
| BMP1 | TLL1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (360): ARMC8 (Two-hybrid), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS)
ESM2 similar proteins: A0A3L7I2I8, A0JMZ3, A5HK05, A7MB89, A7YWD2, O60733, O75031, O94829, O94955, P0C7A6, P42694, P49754, P97570, P97819, Q05AL1, Q1LVW0, Q29RM5, Q2KI54, Q2T9K6, Q3UFS0, Q3UJZ3, Q4V890, Q5KU39, Q5R6S3, Q5R974, Q5T9G4, Q5TYQ1, Q5VZK9, Q68FK4, Q6DFV5, Q6EDY6, Q6NYU2, Q6QI06, Q6R327, Q7T3P8, Q8C0T1, Q8CEF1, Q8IUR7, Q8NFZ0, Q91W86
Diamond homologs: Q05AL1, Q2KI54, Q5R6S3, Q68FK4, Q8IUR7, Q9DBR3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 195 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 |
|---|---|---|---|
| Regulation of pyruvate metabolism | 9 | 37.5× | 4e-10 |
| Deactivation of the beta-catenin transactivating complex | 6 | 10.2× | 3e-03 |
| Mitochondrial translation | 8 | 8.0× | 2e-03 |
| Mitochondrial translation initiation | 8 | 7.4× | 2e-03 |
| Mitochondrial translation elongation | 8 | 7.4× | 2e-03 |
| Mitochondrial ribosome-associated quality control | 8 | 7.2× | 2e-03 |
| Mitochondrial translation termination | 8 | 6.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4210 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:138209894:G:GG | donor_gain | 1.0000 |
| 3:138221919:A:AG | acceptor_gain | 1.0000 |
| 3:138221920:A:G | acceptor_gain | 1.0000 |
| 3:138221923:CA:C | acceptor_loss | 1.0000 |
| 3:138221924:A:AG | acceptor_gain | 1.0000 |
| 3:138221925:G:GA | acceptor_loss | 1.0000 |
| 3:138221925:G:GG | acceptor_gain | 1.0000 |
| 3:138221925:GA:G | acceptor_gain | 1.0000 |
| 3:138221925:GAGAC:G | acceptor_gain | 1.0000 |
| 3:138221996:AGGT:A | donor_loss | 1.0000 |
| 3:138221998:GT:G | donor_loss | 1.0000 |
| 3:138221999:T:G | donor_loss | 1.0000 |
| 3:138223387:A:AG | acceptor_gain | 1.0000 |
| 3:138223388:G:GG | acceptor_gain | 1.0000 |
| 3:138223388:GATT:G | acceptor_gain | 1.0000 |
| 3:138223530:AGG:A | donor_loss | 1.0000 |
| 3:138223531:GGTA:G | donor_loss | 1.0000 |
| 3:138223532:G:A | donor_loss | 1.0000 |
| 3:138223533:T:A | donor_loss | 1.0000 |
| 3:138223633:TA:T | acceptor_loss | 1.0000 |
| 3:138223634:A:T | acceptor_loss | 1.0000 |
| 3:138223635:G:A | acceptor_loss | 1.0000 |
| 3:138223635:GGACT:G | acceptor_gain | 1.0000 |
| 3:138223731:ACAGT:A | donor_loss | 1.0000 |
| 3:138223732:CA:C | donor_gain | 1.0000 |
| 3:138223732:CAGT:C | donor_loss | 1.0000 |
| 3:138223733:AG:A | donor_loss | 1.0000 |
| 3:138223734:G:C | donor_loss | 1.0000 |
| 3:138223734:G:GG | donor_gain | 1.0000 |
| 3:138223735:TGAG:T | donor_loss | 1.0000 |
AlphaMissense
4408 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:138221934:A:T | K44I | 1.000 |
| 3:138221935:A:C | K44N | 1.000 |
| 3:138221935:A:T | K44N | 1.000 |
| 3:138221943:T:A | V47E | 1.000 |
| 3:138221948:G:A | G49R | 1.000 |
| 3:138221948:G:C | G49R | 1.000 |
| 3:138221949:G:A | G49E | 1.000 |
| 3:138221949:G:T | G49V | 1.000 |
| 3:138221963:A:C | K54Q | 1.000 |
| 3:138221963:A:G | K54E | 1.000 |
| 3:138221964:A:T | K54I | 1.000 |
| 3:138221965:A:C | K54N | 1.000 |
| 3:138221965:A:T | K54N | 1.000 |
| 3:138221973:T:C | L57P | 1.000 |
| 3:138221991:T:A | V63D | 1.000 |
| 3:138223457:G:A | G88E | 1.000 |
| 3:138223463:T:C | L90P | 1.000 |
| 3:138223466:C:A | A91D | 1.000 |
| 3:138223471:G:C | G93R | 1.000 |
| 3:138223496:T:C | L101P | 1.000 |
| 3:138264151:G:C | R413T | 1.000 |
| 3:138264151:G:T | R413I | 1.000 |
| 3:138267213:T:C | L453P | 1.000 |
| 3:138267224:T:C | F457L | 1.000 |
| 3:138267226:T:A | F457L | 1.000 |
| 3:138267226:T:G | F457L | 1.000 |
| 3:138209845:T:A | V25D | 0.999 |
| 3:138209854:T:C | L28P | 0.999 |
| 3:138209886:G:C | G39R | 0.999 |
| 3:138209890:T:A | V40D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000010339 (3:138253471 T>C), RS1000011875 (3:138205611 G>A), RS1000022483 (3:138262137 G>A,C), RS1000234727 (3:138234158 T>C), RS1000249386 (3:138227445 T>A), RS1000327694 (3:138269253 A>C), RS1000345460 (3:138227765 T>G), RS1000379987 (3:138269681 C>G,T), RS1000455921 (3:138221246 G>C), RS1000457625 (3:138278792 A>G), RS1000487314 (3:138279125 A>G), RS1000489810 (3:138218818 A>C), RS1000545928 (3:138254788 A>G,T), RS1000552618 (3:138208839 C>T), RS1000576771 (3:138225966 G>A)
Disease associations
OMIM: gene MIM:618521 | 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 |
|---|---|---|
| GCST90002397_665 | Mean spheric corpuscular volume | 2.000000e-09 |
| GCST90020024_1270 | A body shape index | 8.000000e-10 |
| GCST90020025_474 | Waist-to-hip ratio adjusted for BMI | 1.000000e-09 |
| GCST90020027_1848 | Waist-hip index | 8.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 7 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Testosterone | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Vincristine | decreases expression | 1 |
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.