PDCL
gene geneOn this page
Also known as PhLPDKFZp564M1863
Summary
PDCL (phosducin like, HGNC:8770) is a protein-coding gene on chromosome 9q33.2, encoding Phosducin-like protein (Q13371). Acts as a positive regulator of hedgehog signaling and regulates ciliary function. It is a selective cancer dependency (DepMap: 30.0% of cell lines).
Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins.
Source: NCBI Gene 5082 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 46 total
- Cancer dependency (DepMap): dependent in 30.0% of screened cell lines
- MANE Select transcript:
NM_005388
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8770 |
| Approved symbol | PDCL |
| Name | phosducin like |
| Location | 9q33.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PhLP, DKFZp564M1863 |
| Ensembl gene | ENSG00000136940 |
| Ensembl biotype | protein_coding |
| OMIM | 604421 |
| Entrez | 5082 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000259467, ENST00000394285, ENST00000436632, ENST00000935271, ENST00000935272, ENST00000935273, ENST00000943131
RefSeq mRNA: 1 — MANE Select: NM_005388
NM_005388
CCDS: CCDS6845
Canonical transcript exons
ENST00000259467 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000806541 | 122826616 | 122826792 |
| ENSE00000927037 | 122823016 | 122823197 |
| ENSE00001091240 | 122818097 | 122820636 |
| ENSE00001517952 | 122828471 | 122828588 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 97.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.3028 / max 214.7140, expressed in 1817 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102395 | 22.3708 | 1814 |
| 102394 | 0.9321 | 648 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.64 | gold quality |
| endothelial cell | CL:0000115 | 96.70 | silver quality |
| visceral pleura | UBERON:0002401 | 94.18 | gold quality |
| oocyte | CL:0000023 | 93.45 | gold quality |
| parietal pleura | UBERON:0002400 | 92.86 | gold quality |
| tibia | UBERON:0000979 | 92.73 | gold quality |
| pleura | UBERON:0000977 | 92.46 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.32 | gold quality |
| secondary oocyte | CL:0000655 | 91.89 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 91.63 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.04 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.05 | gold quality |
| nasopharynx | UBERON:0001728 | 90.04 | gold quality |
| tendon | UBERON:0000043 | 89.58 | gold quality |
| oral cavity | UBERON:0000167 | 89.42 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.09 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 88.33 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.15 | gold quality |
| embryo | UBERON:0000922 | 88.06 | gold quality |
| periodontal ligament | UBERON:0008266 | 88.02 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.86 | gold quality |
| retina | UBERON:0000966 | 87.83 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.71 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.66 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.66 | gold quality |
| adult organism | UBERON:0007023 | 87.58 | gold quality |
| cortical plate | UBERON:0005343 | 87.49 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.48 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.43 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 87.09 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.90 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
80 targeting PDCL, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 30.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- physiological control of G-protein regulation by PhLP seems to involve phosphorylation by CK2 and alternative splicing of the regulator (PMID:12466282)
- the strong inhibitory action of PhLP(S) on Gbetagamma signaling is the result of a previously unrecognized mechanism of Gbetagamma-regulation, inhibition of Gbetagamma-folding by interference with TCP-1alpha (PMID:15745879)
- PhLP phosphorylation permits the release of a PhLP x Gbeta intermediate from cytosolic chaperonin complex, allowing Ggamma to associate with Gbeta in this intermediate complex. (PMID:16717095)
- cytosolic chaperonin complex-dependent mechanism exists for Gbeta5-RGS7 assembly that utilizes the co-chaperone activity of PhLP1 in a unique way (PMID:19376773)
- PhLP-M1-G149, a Gbetagamma-interacting construct derived from phosducin-like protein 1 (PhLP) is a differential inhibitor of Gbetagamma (PMID:19403526)
- evidence of a generic mechanism, whereby the splicing of the PhLP gene could potentially and efficiently regulate the cellular levels of heterotrimeric G proteins. (PMID:23888055)
- PhLP1 binding stabilizes the Gbeta fold, disrupting interactions with CCT and releasing a PhLP1-Gbeta dimer for assembly with Ggamma. (PMID:25675501)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pdcl | ENSDARG00000009480 |
| mus_musculus | Pdcl | ENSMUSG00000009030 |
| rattus_norvegicus | Pdcl | ENSRNOG00000008484 |
| rattus_norvegicus | AABR07051787.1 | ENSRNOG00000059243 |
| drosophila_melanogaster | CG7650 | FBGN0036519 |
| caenorhabditis_elegans | WBGENE00003142 |
Paralogs (4): TXNDC9 (ENSG00000115514), PDCL3 (ENSG00000115539), PDC (ENSG00000116703), PDCL2 (ENSG00000163440)
Protein
Protein identifiers
Phosducin-like protein — Q13371 (reviewed: Q13371)
All UniProt accessions (3): Q13371, H0Y3M0, H0Y5D3
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a positive regulator of hedgehog signaling and regulates ciliary function. Functions as a co-chaperone for CCT in the assembly of heterotrimeric G protein complexes, facilitates the assembly of both Gbeta-Ggamma and RGS-Gbeta5 heterodimers. Acts as a negative regulator of heterotrimeric G proteins assembly by trapping the preloaded G beta subunits inside the CCT chaperonin.
Subunit / interactions. Forms a complex with the beta and gamma subunits of the GTP-binding protein, transducin. Interacts with the CCT chaperonin complex.
Subcellular location. Cell projection. Cilium.
Miscellaneous. Expressed ubiquitously, highest levels are found in neural tissues amounting to 10% of total PDCL mRNA.
Similarity. Belongs to the phosducin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13371-1 | 1 | yes |
| Q13371-2 | 2, PhLPs |
RefSeq proteins (1): NP_005379* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001200 | Phosducin | Family |
| IPR023196 | Phosducin_N_dom_sf | Homologous_superfamily |
| IPR024253 | Phosducin_thioredoxin-like_dom | Domain |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR051499 | Phosducin-like_reg | Family |
Pfam: PF02114
UniProt features (34 total): helix 9, strand 8, modified residue 6, sequence conflict 2, turn 2, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
19 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8SH9 | ELECTRON MICROSCOPY | 2.7 |
| 8SHG | ELECTRON MICROSCOPY | 2.8 |
| 8SGC | ELECTRON MICROSCOPY | 2.9 |
| 8SHQ | ELECTRON MICROSCOPY | 2.9 |
| 9NOQ | ELECTRON MICROSCOPY | 2.9 |
| 9NRH | ELECTRON MICROSCOPY | 2.9 |
| 8SG8 | ELECTRON MICROSCOPY | 3 |
| 8SHA | ELECTRON MICROSCOPY | 3 |
| 8SHF | ELECTRON MICROSCOPY | 3 |
| 8SHL | ELECTRON MICROSCOPY | 3 |
| 8SHO | ELECTRON MICROSCOPY | 3 |
| 8SHP | ELECTRON MICROSCOPY | 3 |
| 8SHT | ELECTRON MICROSCOPY | 3 |
| 9NPW | ELECTRON MICROSCOPY | 3 |
| 9NOP | ELECTRON MICROSCOPY | 3.1 |
| 9NQ6 | ELECTRON MICROSCOPY | 3.1 |
| 9NRF | ELECTRON MICROSCOPY | 3.1 |
| 9NOC | ELECTRON MICROSCOPY | 3.17 |
| 8SFF | ELECTRON MICROSCOPY | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13371-F1 | 76.66 | 0.40 |
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 (6): 296, 2, 20, 25, 226, 293
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding |
MSigDB gene sets: 132 (showing top):
WHITEHURST_PACLITAXEL_SENSITIVITY, TTTGTAG_MIR520D, GCM_ZNF198, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, SHEPARD_BMYB_MORPHOLINO_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, MORF_EPHA7, BENPORATH_NOS_TARGETS, GOBP_SENSORY_PERCEPTION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_SMOOTHENED_SIGNALING_PATHWAY, GOBP_CELL_PROJECTION_ORGANIZATION
GO Biological Process (6): signal transduction (GO:0007165), visual perception (GO:0007601), regulation of G protein-coupled receptor signaling pathway (GO:0008277), cell projection organization (GO:0030030), positive regulation of smoothened signaling pathway (GO:0045880), heterotrimeric G-protein complex assembly (GO:1902605)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Chaperonin-mediated protein folding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| sensory perception of light stimulus | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| regulation of signal transduction | 1 |
| cellular component organization | 1 |
| smoothened signaling pathway | 1 |
| regulation of smoothened signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| protein-containing complex assembly | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1090 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDCL | GHITM | Q9H3K2 | 771 |
| PDCL | SUCLG2 | Q96I99 | 735 |
| PDCL | PFN3 | P60673 | 716 |
| PDCL | PFN4 | Q8NHR9 | 716 |
| PDCL | PEDS1 | A5PLL7 | 714 |
| PDCL | GNGT1 | P63211 | 688 |
| PDCL | PFN1 | P07737 | 669 |
| PDCL | GNB1 | P04697 | 662 |
| PDCL | SLC26A5 | P58743 | 580 |
| PDCL | COPS7A | Q9UBW8 | 580 |
| PDCL | FCER2 | P06734 | 542 |
| PDCL | DNAJC14 | Q6Y2X3 | 522 |
| PDCL | SCP2 | P22307 | 480 |
| PDCL | TMEM45A | Q9NWC5 | 480 |
| PDCL | ENPP3 | O14638 | 479 |
IntAct
158 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC5 | PDCL | psi-mi:“MI:0915”(physical association) | 0.920 |
| PDCL | PSMC5 | psi-mi:“MI:0915”(physical association) | 0.920 |
| CCT3 | PDCL | psi-mi:“MI:0915”(physical association) | 0.800 |
| PSMC5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | PPP6C | psi-mi:“MI:0914”(association) | 0.640 |
| PDCL3 | PEX7 | psi-mi:“MI:0914”(association) | 0.640 |
| GNB1 | GNG7 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT5 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT7 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| DCAF12L2 | CETN3 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG8 | GNB5 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG5 | GNB5 | psi-mi:“MI:0914”(association) | 0.620 |
| PDCL | MRPL11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDCL | ATN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLK6 | PDCL | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (214): PSMC5 (Two-hybrid), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PDCL (Affinity Capture-MS), PSMC5 (Two-hybrid), PDCL (Proximity Label-MS), PDCL (Proximity Label-MS), PDCL (Proximity Label-MS)
ESM2 similar proteins: A0JM23, A5PMF7, B8JKF4, F4JZJ2, O23052, O60502, O77560, P0CF65, P0CI65, P19632, P20941, P20942, P41686, Q008S8, Q0P564, Q13371, Q2HJA9, Q2TBM9, Q3U213, Q568B8, Q58CZ2, Q5FVM7, Q5R7K4, Q5RCM7, Q5SNQ7, Q5ZKZ4, Q63737, Q68EV9, Q692V3, Q6AZT7, Q6P3V7, Q6P5D8, Q75BD8, Q80TN4, Q8BHD8, Q8S8L9, Q8VC33, Q8VIJ5, Q8VZQ0, Q94HV8
Diamond homologs: O77560, P19632, P20941, P20942, P41686, Q13371, Q2HJA9, Q63737, Q9DBX2, Q9QW08, Q9VUR7, Q9XS39, Q0VCW8, Q4KLJ8, Q5RB77, Q6P268, Q71A38, Q71A39, Q8BVF2, Q9H2J4, Q9Y7L1, Q8MR62, O14530, Q12017, Q32LN3, Q71A37, Q78Y63, Q8K581, Q8N4E4, Q9CQ79, O64628
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CSNK2A1 | up-regulates | PDCL | phosphorylation |
| CSNK2A1 | unknown | PDCL | phosphorylation |
| GRK2 | “down-regulates activity” | PDCL | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 125 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 |
|---|---|---|---|
| Prostacyclin signalling through prostacyclin receptor | 14 | 109.3× | 3e-25 |
| G beta:gamma signalling through BTK | 13 | 107.1× | 2e-23 |
| G beta:gamma signalling through PLC beta | 13 | 96.4× | 8e-23 |
| G beta:gamma signalling through CDC42 | 13 | 96.4× | 8e-23 |
| Presynaptic function of Kainate receptors | 13 | 91.8× | 2e-22 |
| ADP signalling through P2Y purinoceptor 12 | 14 | 90.3× | 1e-23 |
| G-protein activation | 14 | 86.5× | 2e-23 |
| Thromboxane signalling through TP receptor | 14 | 86.5× | 2e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance via telomerase | 10 | 70.5× | 2e-14 |
| binding of sperm to zona pellucida | 7 | 28.4× | 5e-07 |
| protein folding | 15 | 14.9× | 1e-11 |
| protein stabilization | 15 | 9.7× | 6e-09 |
| G protein-coupled receptor signaling pathway | 15 | 5.2× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
857 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:122823012:TTA:T | donor_loss | 1.0000 |
| 9:122823013:TACC:T | donor_loss | 1.0000 |
| 9:122823014:A:T | donor_loss | 1.0000 |
| 9:122823015:C:CA | donor_loss | 1.0000 |
| 9:122826611:AGTAC:A | donor_gain | 1.0000 |
| 9:122826614:ACCTG:A | donor_loss | 1.0000 |
| 9:122826788:GGTGT:G | acceptor_gain | 1.0000 |
| 9:122826789:GTGT:G | acceptor_gain | 1.0000 |
| 9:122826790:TGT:T | acceptor_gain | 1.0000 |
| 9:122826791:GT:G | acceptor_gain | 1.0000 |
| 9:122826792:TCTG:T | acceptor_loss | 1.0000 |
| 9:122826793:C:CA | acceptor_loss | 1.0000 |
| 9:122826793:C:CC | acceptor_gain | 1.0000 |
| 9:122820650:A:T | acceptor_gain | 0.9900 |
| 9:122823018:T:A | donor_gain | 0.9900 |
| 9:122823027:T:C | donor_gain | 0.9900 |
| 9:122823198:C:CA | acceptor_loss | 0.9900 |
| 9:122823198:C:CC | acceptor_gain | 0.9900 |
| 9:122823224:C:CT | acceptor_gain | 0.9900 |
| 9:122826624:A:C | donor_gain | 0.9900 |
| 9:122828417:C:CA | donor_gain | 0.9900 |
| 9:122828466:GTTAC:G | donor_loss | 0.9900 |
| 9:122828467:TTACC:T | donor_loss | 0.9900 |
| 9:122828468:TAC:T | donor_loss | 0.9900 |
| 9:122828469:ACC:A | donor_loss | 0.9900 |
| 9:122828470:C:A | donor_loss | 0.9900 |
| 9:122828479:G:C | donor_gain | 0.9900 |
| 9:122820649:C:CT | acceptor_gain | 0.9800 |
| 9:122823225:A:T | acceptor_gain | 0.9800 |
| 9:122826614:A:AC | donor_gain | 0.9800 |
AlphaMissense
2031 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:122820560:C:G | R144P | 0.999 |
| 9:122823170:C:G | R67P | 0.999 |
| 9:122823176:T:A | D65V | 0.999 |
| 9:122823189:C:G | G61R | 0.999 |
| 9:122823190:T:A | K60N | 0.999 |
| 9:122823190:T:G | K60N | 0.999 |
| 9:122820188:A:G | L268P | 0.998 |
| 9:122820281:A:G | L237P | 0.998 |
| 9:122820290:G:C | P234R | 0.998 |
| 9:122820290:G:T | P234H | 0.998 |
| 9:122820307:G:C | F228L | 0.998 |
| 9:122820307:G:T | F228L | 0.998 |
| 9:122820308:A:G | F228S | 0.998 |
| 9:122820309:A:G | F228L | 0.998 |
| 9:122820569:C:G | R141P | 0.998 |
| 9:122823160:C:A | K70N | 0.998 |
| 9:122823160:C:G | K70N | 0.998 |
| 9:122823163:G:C | F69L | 0.998 |
| 9:122823163:G:T | F69L | 0.998 |
| 9:122823165:A:G | F69L | 0.998 |
| 9:122823176:T:C | D65G | 0.998 |
| 9:122823176:T:G | D65A | 0.998 |
| 9:122823194:G:T | P59Q | 0.998 |
| 9:122823197:C:T | G58D | 0.998 |
| 9:122820245:A:T | V249D | 0.997 |
| 9:122820284:A:G | L236P | 0.997 |
| 9:122820287:G:T | A235D | 0.997 |
| 9:122820350:A:G | F214S | 0.997 |
| 9:122820374:G:T | A206D | 0.997 |
| 9:122820375:C:G | A206P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000103836 (9:122818327 A>C), RS1000193961 (9:122830456 T>C), RS1000244984 (9:122818564 T>A), RS1000296201 (9:122824435 G>A), RS1000369487 (9:122827949 T>G), RS1000850464 (9:122820053 C>A,T), RS1000996402 (9:122826322 T>C), RS1001663396 (9:122818063 C>T), RS1001684979 (9:122823477 C>T), RS1002144398 (9:122828807 A>C), RS1002311407 (9:122828972 T>A), RS1003043873 (9:122819194 G>A), RS1003099973 (9:122826565 T>G), RS1003152378 (9:122826266 T>C), RS1003430414 (9:122824823 T>C,G)
Disease associations
OMIM: gene MIM:604421 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_547 | Obesity-related traits | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| kojic acid | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Temozolomide | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Emodin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
| Copper Sulfate | 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.