CLIP3
gene geneOn this page
Also known as CLIPR-59RSNL1
Summary
CLIP3 (CAP-Gly domain containing linker protein 3, HGNC:24314) is a protein-coding gene on chromosome 19q13.12, encoding CAP-Gly domain-containing linker protein 3 (Q96DZ5). Functions as a cytoplasmic linker protein.
This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 25999 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_015526
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24314 |
| Approved symbol | CLIP3 |
| Name | CAP-Gly domain containing linker protein 3 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLIPR-59, RSNL1 |
| Ensembl gene | ENSG00000105270 |
| Ensembl biotype | protein_coding |
| OMIM | 607382 |
| Entrez | 25999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 retained_intron
ENST00000360535, ENST00000585466, ENST00000586457, ENST00000590559, ENST00000592017, ENST00000593074, ENST00000904679, ENST00000904680, ENST00000923666
RefSeq mRNA: 2 — MANE Select: NM_015526
NM_001199570, NM_015526
CCDS: CCDS12486
Canonical transcript exons
ENST00000360535 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001057348 | 36019171 | 36019306 |
| ENSE00001057351 | 36018898 | 36019026 |
| ENSE00001151412 | 36016907 | 36016979 |
| ENSE00001151418 | 36017386 | 36017450 |
| ENSE00001151425 | 36017655 | 36017778 |
| ENSE00001151432 | 36017848 | 36017991 |
| ENSE00001151451 | 36026147 | 36026265 |
| ENSE00001151457 | 36026586 | 36026747 |
| ENSE00001265900 | 36024396 | 36024632 |
| ENSE00001430168 | 36014660 | 36016212 |
| ENSE00002502399 | 36027132 | 36027271 |
| ENSE00002695934 | 36032192 | 36032415 |
| ENSE00002959485 | 36032724 | 36032873 |
| ENSE00003789288 | 36026952 | 36027045 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 99.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.7782 / max 990.3994, expressed in 1244 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180644 | 31.5654 | 1244 |
| 180643 | 0.1649 | 69 |
| 180642 | 0.0479 | 14 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.99 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.94 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.89 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.89 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.87 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.86 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.82 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.82 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.80 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.78 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.77 | gold quality |
| cerebellum | UBERON:0002037 | 98.76 | gold quality |
| parietal lobe | UBERON:0001872 | 98.72 | gold quality |
| frontal cortex | UBERON:0001870 | 98.68 | gold quality |
| ventricular zone | UBERON:0003053 | 98.66 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.56 | gold quality |
| neocortex | UBERON:0001950 | 98.47 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.35 | gold quality |
| temporal lobe | UBERON:0001871 | 98.34 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.34 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.33 | gold quality |
| amygdala | UBERON:0001876 | 98.17 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.08 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.08 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.07 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.05 | gold quality |
| hypothalamus | UBERON:0001898 | 98.03 | gold quality |
| pons | UBERON:0000988 | 97.98 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 22.73 |
| E-ANND-3 | yes | 9.10 |
| E-GEOD-93593 | yes | 6.89 |
| E-MTAB-7037 | no | 34.47 |
| E-CURD-112 | no | 2.44 |
| E-MTAB-9543 | no | 2.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
120 targeting CLIP3, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
Literature-anchored findings (GeneRIF, showing 8)
- play an important role in membrane-microtubule interactions. (PMID:11854307)
- CLIPR-59 prevents microtubule-raft interactions (PMID:15262990)
- CLIPR-59 may act as a typical chaperone, allowing a prompt interaction between tubulin and the raft component GD3 during cell apoptosis triggered by CD95/Fas (PMID:20052288)
- CLIPR-59 modulates ubiquitination of RIP1, resulting in the formation of Complex-II and thus promoting Caspase-8 activation to induce apoptosis by TNF-alpha. (PMID:22297296)
- DHHC17 is a ClipR-59 palmitoyltransferase that modulates ClipR-59 plasma membrane binding. (PMID:24001771)
- CLIPR-59 interacts with Spy1 resulting in its decreased association with a de-ubiquitinating enzyme in glioblastoma cells. (PMID:26017671)
- this study indicates that inhibition of miRNA-593-3p by insulin promotes glucose metabolism through the regulation of Slc38a1 and CLIP3 expression, and provides a new insight into the role and mechanism of insulin-induced glycolysis. (PMID:27613819)
- Downregulated CLIP3 induces radioresistance by enhancing stemness and glycolytic flux in glioblastoma. (PMID:34488821)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | clip3 | ENSDARG00000054456 |
| mus_musculus | Clip3 | ENSMUSG00000013921 |
| rattus_norvegicus | Clip3 | ENSRNOG00000050104 |
Paralogs (4): CLIP2 (ENSG00000106665), CLIP4 (ENSG00000115295), CLIP1 (ENSG00000130779), DCTN1 (ENSG00000204843)
Protein
Protein identifiers
CAP-Gly domain-containing linker protein 3 — Q96DZ5 (reviewed: Q96DZ5)
Alternative names: Cytoplasmic linker protein 170-related 59 kDa protein
All UniProt accessions (2): Q96DZ5, K7ESF3
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a cytoplasmic linker protein. Involved in TGN-endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes.
Subunit / interactions. Homodimer. Interacts with AKT1 and AKT2; when AKT1 and AKT2 are phosphorylated and activated, affinity is higher for AKT2. Interacts with ZDHHC13 (via ANK repeats). Interacts with ZDHHC17 (via ANK repeats).
Subcellular location. Cell membrane. Cytoplasm. Golgi apparatus. Golgi stack.
Post-translational modifications. Palmitoylation by ZDHHC17 regulates association with the plasma membrane.
Domain organisation. Microtubule association is inhibited by the ANK repeats and the Golgi localization region (GoLD).
Miscellaneous. The N-terminal half is dispensable for proper Golgi targeting, whereas the GoLD region is required.
RefSeq proteins (2): NP_001186499, NP_056341* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000938 | CAP-Gly_domain | Domain |
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
| IPR036859 | CAP-Gly_dom_sf | Homologous_superfamily |
Pfam: PF01302, PF12796
UniProt features (31 total): strand 8, compositionally biased region 4, repeat 3, region of interest 3, modified residue 2, lipid moiety-binding region 2, mutagenesis site 2, helix 2, domain 2, chain 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CP0 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DZ5-F1 | 74.93 | 0.43 |
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): 374, 401, 534, 535
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 509 | inhibits interaction with zdhhc13 and zdhhc17. |
| 534–535 | strongly reduced plasma membrane association and decrease in the levels of akt at the plasma membrane. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5357905 | Regulation of TNFR1 signaling |
MSigDB gene sets: 273 (showing top):
GCACCTT_MIR18A_MIR18B, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GNF2_RTN1, GCM_MAP4K4, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_LIPOPROTEIN_METABOLIC_PROCESS
GO Biological Process (11): positive regulation of protein phosphorylation (GO:0001934), positive regulation of D-glucose transmembrane transport (GO:0010828), peptidyl-L-cysteine S-palmitoylation (GO:0018230), negative regulation of microtubule polymerization (GO:0031115), cytoplasmic microtubule organization (GO:0031122), positive regulation of apoptotic process (GO:0043065), membrane biogenesis (GO:0044091), fat cell differentiation (GO:0045444), positive regulation of endocytosis (GO:0045807), protein transport along microtubule (GO:0098840), positive regulation of protein localization to plasma membrane (GO:1903078)
GO Molecular Function (4): microtubule binding (GO:0008017), ganglioside binding (GO:0035594), microtubule plus-end binding (GO:0051010), protein binding (GO:0005515)
GO Cellular Component (14): nucleus (GO:0005634), Golgi stack (GO:0005795), trans-Golgi network (GO:0005802), cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), early endosome membrane (GO:0031901), trans-Golgi network membrane (GO:0032588), microtubule plus-end (GO:0035371), membrane raft (GO:0045121), recycling endosome membrane (GO:0055038), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| TNF signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| Golgi apparatus subcompartment | 2 |
| cell periphery | 2 |
| endosome membrane | 2 |
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| regulation of D-glucose transmembrane transport | 1 |
| positive regulation of transmembrane transport | 1 |
| D-glucose transmembrane transport | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| negative regulation of microtubule polymerization or depolymerization | 1 |
| regulation of microtubule polymerization | 1 |
| negative regulation of protein polymerization | 1 |
| microtubule polymerization | 1 |
| negative regulation of supramolecular fiber organization | 1 |
| microtubule cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| cellular component biogenesis | 1 |
| cell differentiation | 1 |
| endocytosis | 1 |
| regulation of endocytosis | 1 |
| positive regulation of transport | 1 |
| positive regulation of cellular component organization | 1 |
| intracellular protein transport | 1 |
| transport along microtubule | 1 |
| microtubule-based protein transport | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 1 |
| tubulin binding | 1 |
| glycosphingolipid binding | 1 |
Protein interactions and networks
STRING
1133 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLIP3 | ANK1 | P16157 | 518 |
| CLIP3 | ANK3 | Q12955 | 511 |
| CLIP3 | ANK2 | Q01484 | 510 |
| CLIP3 | ZDHHC17 | Q8IUH5 | 505 |
| CLIP3 | TOR1A | O14656 | 475 |
| CLIP3 | ZDHHC13 | Q8IUH4 | 473 |
| CLIP3 | MALRD1 | Q5VYJ5 | 462 |
| CLIP3 | CHST8 | Q9H2A9 | 443 |
| CLIP3 | ZBTB7C | A1YPR0 | 443 |
| CLIP3 | ZDHHC22 | Q8N966 | 436 |
| CLIP3 | TTC38 | Q5R3I4 | 432 |
| CLIP3 | PHKB | Q93100 | 426 |
| CLIP3 | TBC1D4 | O60343 | 416 |
| CLIP3 | PACSIN1 | Q9BY11 | 409 |
| CLIP3 | PIP5K1A | Q99755 | 407 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GOLGA2 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLIP3 | CEP83 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRN | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLIP3 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLIP3 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLIP3 | KIF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF11 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| DLK1 | PLPP3 | psi-mi:“MI:0914”(association) | 0.350 |
| MICB | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CLIP3 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CEP83 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TLE5 | CLIP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (23): AKT1 (Affinity Capture-Western), AKT2 (Affinity Capture-Western), CLIP3 (Affinity Capture-Western), CLIP3 (Affinity Capture-Western), AKT2 (Reconstituted Complex), AKT1 (Reconstituted Complex), SPDYA (Affinity Capture-Western), CLIP3 (Affinity Capture-Western), CLIP3 (Affinity Capture-Western), CYLD (Affinity Capture-Western), CLIP3 (Biochemical Activity), CLIP3 (Two-hybrid), GOLGA2 (Two-hybrid), CEP83 (Two-hybrid), CLIP3 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0D1E2P6, A0A0D2XVZ5, A0A0P0VG31, A0A0P1AAU8, A0A287B8J2, A2WYG9, A4QP73, B9EHT4, B9F2Y7, D0NCC1, J9VKM5, O08788, O59739, P0C7L7, P0CP26, P0CP27, P14725, P28023, P39742, P82874, P92792, Q10MW6, Q13217, Q14203, Q149L6, Q27968, Q28I38, Q54M21, Q54NS3, Q58DR2, Q5JJI4, Q5JNB5, Q5R686, Q5R6H3, Q5ZI13, Q6PCJ1, Q6YUL8, Q7ZXQ8, Q8TBM8, Q91YW3
Diamond homologs: A0A287B8J2, B9EHT4, O08788, O42184, O42667, O55156, P28023, P30622, P33420, P35458, Q10235, Q14203, Q20728, Q54Z01, Q5E951, Q5R686, Q5U243, Q66HD5, Q6PCJ1, Q8CI96, Q8N3C7, Q922J3, Q96DZ5, Q99426, Q9D1E6, Q9JK25, Q9NQT8, Q9UDT6, Q9VJE5, Q9Z0H8, E9Q309, P13496, P34531, Q01397, Q15813, Q32KS0, Q55CN0, Q5FVQ9, Q5RBD9, Q5U378
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1524 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:36016210:AACCT:A | acceptor_loss | 1.0000 |
| 19:36016212:CCT:C | acceptor_loss | 1.0000 |
| 19:36016213:C:CG | acceptor_loss | 1.0000 |
| 19:36016214:T:A | acceptor_loss | 1.0000 |
| 19:36016975:CGTCA:C | acceptor_gain | 1.0000 |
| 19:36016977:TCA:T | acceptor_gain | 1.0000 |
| 19:36016978:CA:C | acceptor_gain | 1.0000 |
| 19:36016978:CAC:C | acceptor_gain | 1.0000 |
| 19:36016978:CACT:C | acceptor_loss | 1.0000 |
| 19:36016979:AC:A | acceptor_loss | 1.0000 |
| 19:36016980:C:CC | acceptor_gain | 1.0000 |
| 19:36016980:C:CG | acceptor_loss | 1.0000 |
| 19:36016981:T:C | acceptor_loss | 1.0000 |
| 19:36017380:A:C | donor_gain | 1.0000 |
| 19:36017381:CTCA:C | donor_gain | 1.0000 |
| 19:36017382:TCA:T | donor_loss | 1.0000 |
| 19:36017383:CA:C | donor_loss | 1.0000 |
| 19:36017384:A:AC | donor_gain | 1.0000 |
| 19:36017385:C:CT | donor_gain | 1.0000 |
| 19:36017385:CT:C | donor_gain | 1.0000 |
| 19:36017385:CTTG:C | donor_gain | 1.0000 |
| 19:36017385:CTTGT:C | donor_gain | 1.0000 |
| 19:36017386:TTGT:T | donor_gain | 1.0000 |
| 19:36017387:TGTC:T | donor_gain | 1.0000 |
| 19:36017446:CAATC:C | acceptor_gain | 1.0000 |
| 19:36017447:AATC:A | acceptor_gain | 1.0000 |
| 19:36017448:ATC:A | acceptor_gain | 1.0000 |
| 19:36017448:ATCC:A | acceptor_loss | 1.0000 |
| 19:36017449:TC:T | acceptor_gain | 1.0000 |
| 19:36017449:TCC:T | acceptor_loss | 1.0000 |
AlphaMissense
3542 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:36017678:G:C | F476L | 1.000 |
| 19:36017678:G:T | F476L | 1.000 |
| 19:36017679:A:C | F476C | 1.000 |
| 19:36017679:A:G | F476S | 1.000 |
| 19:36017680:A:G | F476L | 1.000 |
| 19:36017682:A:T | V475D | 1.000 |
| 19:36017685:C:T | G474E | 1.000 |
| 19:36017686:C:A | G474W | 1.000 |
| 19:36017686:C:G | G474R | 1.000 |
| 19:36017686:C:T | G474R | 1.000 |
| 19:36017699:G:C | C469W | 1.000 |
| 19:36017700:C:T | C469Y | 1.000 |
| 19:36017705:G:C | F467L | 1.000 |
| 19:36017705:G:T | F467L | 1.000 |
| 19:36017706:A:G | F467S | 1.000 |
| 19:36017707:A:G | F467L | 1.000 |
| 19:36017710:A:C | Y466D | 1.000 |
| 19:36017724:A:T | V461D | 1.000 |
| 19:36017728:A:G | S460P | 1.000 |
| 19:36017730:C:A | G459V | 1.000 |
| 19:36017730:C:T | G459D | 1.000 |
| 19:36017731:C:A | G459C | 1.000 |
| 19:36017731:C:G | G459R | 1.000 |
| 19:36017742:C:A | G455V | 1.000 |
| 19:36017742:C:T | G455D | 1.000 |
| 19:36017743:C:G | G455R | 1.000 |
| 19:36017757:A:G | L450P | 1.000 |
| 19:36017766:C:T | G447D | 1.000 |
| 19:36017767:C:G | G447R | 1.000 |
| 19:36017771:C:A | W445C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000028536 (19:36032921 G>A,C,T), RS1000105680 (19:36029821 T>C), RS1000210396 (19:36026492 C>G,T), RS1000496667 (19:36028111 C>T), RS1000582183 (19:36029431 A>G), RS1000613564 (19:36014695 T>A), RS1000737033 (19:36014488 G>A), RS1001190810 (19:36023075 C>A), RS1001267171 (19:36025212 A>C), RS1001616869 (19:36025366 A>G), RS1001987694 (19:36029891 C>A), RS1002050116 (19:36029582 G>A), RS1002375382 (19:36016740 G>A), RS1002443314 (19:36018384 G>T), RS1002615392 (19:36024792 T>G)
Disease associations
OMIM: gene MIM:607382 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression, increases methylation | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | increases abundance, affects cotreatment, increases expression, decreases expression | 3 |
| afuresertib | increases expression | 1 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| moringin | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | affects cotreatment, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| cyfluthrin | 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 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Aspirin | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cannabidiol | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Chlorpyrifos | increases expression | 1 |
| Mustard Gas | increases 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.