PALM
gene geneOn this page
Also known as KIAA0270PALM1
Summary
PALM (paralemmin, HGNC:8594) is a protein-coding gene on chromosome 19p13.3, encoding Paralemmin-1 (O75781). Involved in plasma membrane dynamics and cell process formation.
This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.
Source: NCBI Gene 5064 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 289 total
- MANE Select transcript:
NM_002579
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8594 |
| Approved symbol | PALM |
| Name | paralemmin |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0270, PALM1 |
| Ensembl gene | ENSG00000099864 |
| Ensembl biotype | protein_coding |
| OMIM | 608134 |
| Entrez | 5064 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000264560, ENST00000338448, ENST00000586055, ENST00000586776, ENST00000587513, ENST00000589012, ENST00000590161, ENST00000592155, ENST00000592870, ENST00000593172, ENST00000633534, ENST00000964891
RefSeq mRNA: 2 — MANE Select: NM_002579
NM_001040134, NM_002579
CCDS: CCDS32857, CCDS32858
Canonical transcript exons
ENST00000338448 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001372523 | 746285 | 748329 |
| ENSE00002843176 | 708935 | 709151 |
| ENSE00003473277 | 727008 | 727088 |
| ENSE00003493405 | 727564 | 727694 |
| ENSE00003500293 | 736019 | 736078 |
| ENSE00003564651 | 740352 | 740483 |
| ENSE00003592874 | 726138 | 726189 |
| ENSE00003621242 | 734173 | 734194 |
| ENSE00003673466 | 731095 | 731245 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 98.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1259 / max 213.1086, expressed in 1219 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172736 | 12.0226 | 1187 |
| 172738 | 1.0849 | 579 |
| 172739 | 0.3488 | 139 |
| 172737 | 0.3118 | 160 |
| 172741 | 0.1482 | 57 |
| 172735 | 0.0978 | 39 |
| 172740 | 0.0833 | 44 |
| 172742 | 0.0192 | 12 |
| 172743 | 0.0093 | 5 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| amygdala | UBERON:0001876 | 98.90 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.87 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.75 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.47 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.45 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.36 | gold quality |
| putamen | UBERON:0001874 | 98.34 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.15 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.08 | gold quality |
| cortical plate | UBERON:0005343 | 97.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.55 | gold quality |
| neocortex | UBERON:0001950 | 97.30 | gold quality |
| frontal cortex | UBERON:0001870 | 97.27 | gold quality |
| ventricular zone | UBERON:0003053 | 97.26 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.26 | gold quality |
| apex of heart | UBERON:0002098 | 97.03 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.02 | gold quality |
| temporal lobe | UBERON:0001871 | 96.95 | gold quality |
| telencephalon | UBERON:0001893 | 96.94 | gold quality |
| sural nerve | UBERON:0015488 | 96.91 | gold quality |
| forebrain | UBERON:0001890 | 96.71 | gold quality |
| cerebral cortex | UBERON:0000956 | 96.62 | gold quality |
| spinal cord | UBERON:0002240 | 96.59 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.32 | gold quality |
| hypothalamus | UBERON:0001898 | 96.27 | gold quality |
| central nervous system | UBERON:0001017 | 96.21 | gold quality |
| brain | UBERON:0000955 | 96.20 | gold quality |
| Ammon’s horn | UBERON:0001954 | 96.13 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.13 | gold quality |
| right ovary | UBERON:0002118 | 96.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.41 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PAX6
miRNA regulators (miRDB)
93 targeting PALM, 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-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-3191-3P | 99.45 | 63.94 | 356 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | palm1b | ENSDARG00000007818 |
| danio_rerio | palm1a | ENSDARG00000026882 |
| mus_musculus | Palm | ENSMUSG00000035863 |
| rattus_norvegicus | Palm | ENSRNOG00000009760 |
Paralogs (3): PALMD (ENSG00000099260), PALM2AKAP2 (ENSG00000157654), PALM3 (ENSG00000187867)
Protein
Protein identifiers
Paralemmin-1 — O75781 (reviewed: O75781)
Alternative names: Paralemmin
All UniProt accessions (4): O75781, A0A087WTK8, A0A087WWY4, A0A087X1D6
UniProt curated annotations — full annotation on UniProt →
Function. Involved in plasma membrane dynamics and cell process formation. Isoform 1 and isoform 2 are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner.
Subunit / interactions. Interacts with dopamine receptor DRD3.
Subcellular location. Cell membrane. Cell projection. Filopodium membrane. Axon. Dendrite. Dendritic spine. Basolateral cell membrane. Apicolateral cell membrane.
Tissue specificity. Widely expressed with highest expression in brain and testis and intermediate expression in heart and adrenal gland.
Similarity. Belongs to the paralemmin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75781-1 | 1, Paralemmin-L | yes |
| O75781-2 | 2, Paralemmin-S |
RefSeq proteins (2): NP_001035224, NP_002570* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004965 | Paralemmin | Family |
Pfam: PF03285
UniProt features (28 total): modified residue 12, compositionally biased region 4, region of interest 3, lipid moiety-binding region 3, chain 1, propeptide 1, splice variant 1, sequence variant 1, mutagenesis site 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75781-F1 | 70.68 | 0.33 |
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 (15): 1, 116, 124, 141, 145, 162, 243, 245, 346, 367, 369, 384, 381, 383, 384
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 381–383 | inhibits axonal and dendritic filopodia formation and reduces axonal and dendritic branching. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 205 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, LFA1_Q6, FOXO4_01, FOXO1_01, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MODULE_66, GOBP_CELLULAR_RESPONSE_TO_ELECTRICAL_STIMULUS, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP
GO Biological Process (9): cytoskeleton organization (GO:0007010), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), regulation of cell shape (GO:0008360), positive regulation of filopodium assembly (GO:0051491), synapse maturation (GO:0060074), negative regulation of dopamine receptor signaling pathway (GO:0060160), cellular response to electrical stimulus (GO:0071257), protein localization to plasma membrane (GO:0072659), intracellular protein localization (GO:0008104)
GO Molecular Function (2): D3 dopamine receptor binding (GO:0031750), protein binding (GO:0005515)
GO Cellular Component (19): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), postsynaptic density (GO:0014069), basolateral plasma membrane (GO:0016323), apicolateral plasma membrane (GO:0016327), filopodium (GO:0030175), axon (GO:0030424), cytoplasmic vesicle (GO:0031410), filopodium membrane (GO:0031527), dendritic spine (GO:0043197), neuron spine (GO:0044309), synaptic membrane (GO:0097060), postsynapse (GO:0098794), cytoplasm (GO:0005737), membrane (GO:0016020), dendrite (GO:0030425), cell projection (GO:0042995), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| plasma membrane region | 3 |
| neuron projection | 3 |
| synapse | 2 |
| organelle organization | 1 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 1 |
| adenylate cyclase inhibitor activity | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| filopodium assembly | 1 |
| regulation of filopodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| nervous system development | 1 |
| developmental maturation | 1 |
| synapse organization | 1 |
| G protein-coupled dopamine receptor signaling pathway | 1 |
| negative regulation of G protein-coupled receptor signaling pathway | 1 |
| regulation of dopamine receptor signaling pathway | 1 |
| response to electrical stimulus | 1 |
| cellular response to abiotic stimulus | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| macromolecule localization | 1 |
| dopamine receptor binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| basal plasma membrane | 1 |
| actin-based cell projection | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| filopodium | 1 |
| cell projection membrane | 1 |
| dendrite | 1 |
| neuron spine | 1 |
Protein interactions and networks
STRING
523 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PALM | ZDHHC13 | Q8IUH4 | 832 |
| PALM | ZDHHC8 | Q9ULC8 | 795 |
| PALM | ZDHHC17 | Q8IUH5 | 745 |
| PALM | SYT7 | O43581 | 736 |
| PALM | SNAP25 | P13795 | 591 |
| PALM | SYT1 | P21579 | 587 |
| PALM | DLG4 | P78352 | 561 |
| PALM | PRXL2A | Q9BRX8 | 524 |
| PALM | GAD2 | Q05329 | 487 |
| PALM | PALMD | Q9NP74 | 417 |
| PALM | ZDHHC3 | Q9NYG2 | 398 |
| PALM | BASP1 | P80723 | 384 |
| PALM | ZDHHC2 | Q9UIJ5 | 371 |
| PALM | PALM2AKAP2 | Q9Y2D5 | 366 |
| PALM | GAS1 | P54826 | 353 |
| PALM | TCF21 | O43680 | 353 |
IntAct
58 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| RABGGTB | YKT6 | psi-mi:“MI:0914”(association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KCNJ2 | KCNJ18 | psi-mi:“MI:2364”(proximity) | 0.660 |
| DMWD | PALM | psi-mi:“MI:0915”(physical association) | 0.560 |
| PALM | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FYTTD1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| RABGGTB | PIPSL | psi-mi:“MI:0914”(association) | 0.530 |
| GJB7 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| RASGRF1 | PALM | psi-mi:“MI:0915”(physical association) | 0.400 |
| COQ6 | PALM | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF624 | PALM | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| PALM | HTT | psi-mi:“MI:0915”(physical association) | 0.400 |
| POT1 | PALM | psi-mi:“MI:0915”(physical association) | 0.370 |
| FLNA | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Flnb | RPL22 | psi-mi:“MI:0914”(association) | 0.350 |
| Tmod3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Coro1c | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DBN1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNPO | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| Myh9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | PALM | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (106): PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Proximity Label-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Affinity Capture-MS), PALM (Proximity Label-MS), PALM (Proximity Label-MS)
ESM2 similar proteins: A0M8T5, A1X157, E7F5E1, O15169, O35625, O35867, O54931, O70239, O75781, Q07DW4, Q07DZ5, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q0VDN7, Q108T9, Q13625, Q2IBB2, Q2IBD4, Q2IBF8, Q2MJV8, Q2MJV9, Q2QL82, Q2QLB3, Q2QLG9, Q3MHH7, Q3UH68, Q4KM62, Q5U301, Q63028, Q6IPM2, Q8CG79, Q8N163, Q8VDP4, Q920Q0
Diamond homologs: A2TJV2, A6NDB9, O54931, O75781, Q2MJV8, Q2MJV9, Q3MHH7, Q4KM62, Q5U301, Q7ZX27, Q920Q0, Q9JHU2, Q9NP74, Q9Y2D5, Q9YGL6, Q9Z0P4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
289 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 149 |
| Likely benign | 102 |
| Benign | 28 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1978 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:709148:TGGA:T | donor_gain | 1.0000 |
| 19:709149:GGA:G | donor_gain | 1.0000 |
| 19:709149:GGAG:G | donor_gain | 1.0000 |
| 19:709150:GA:G | donor_gain | 1.0000 |
| 19:709150:GAG:G | donor_gain | 1.0000 |
| 19:709152:G:GG | donor_gain | 1.0000 |
| 19:709156:G:GG | donor_gain | 1.0000 |
| 19:711071:A:T | donor_gain | 1.0000 |
| 19:726187:GCA:G | donor_gain | 1.0000 |
| 19:726190:G:GG | donor_gain | 1.0000 |
| 19:727003:CACA:C | acceptor_loss | 1.0000 |
| 19:727004:A:AG | acceptor_gain | 1.0000 |
| 19:727004:ACAG:A | acceptor_gain | 1.0000 |
| 19:727005:C:G | acceptor_gain | 1.0000 |
| 19:727006:A:AG | acceptor_gain | 1.0000 |
| 19:727006:AG:A | acceptor_gain | 1.0000 |
| 19:727007:G:GC | acceptor_gain | 1.0000 |
| 19:727007:GG:G | acceptor_gain | 1.0000 |
| 19:727007:GGA:G | acceptor_gain | 1.0000 |
| 19:727007:GGAGA:G | acceptor_gain | 1.0000 |
| 19:727085:GAAG:G | donor_gain | 1.0000 |
| 19:727086:AAGG:A | donor_loss | 1.0000 |
| 19:727087:AGGTA:A | donor_loss | 1.0000 |
| 19:727089:G:C | donor_loss | 1.0000 |
| 19:727089:G:GG | donor_gain | 1.0000 |
| 19:727523:T:TA | acceptor_gain | 1.0000 |
| 19:727535:C:CA | acceptor_gain | 1.0000 |
| 19:727562:A:AG | acceptor_gain | 1.0000 |
| 19:727563:G:GG | acceptor_gain | 1.0000 |
| 19:727681:GAC:G | donor_gain | 1.0000 |
AlphaMissense
2500 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:727585:T:A | W54R | 0.998 |
| 19:727585:T:C | W54R | 0.998 |
| 19:727587:G:C | W54C | 0.998 |
| 19:727587:G:T | W54C | 0.998 |
| 19:740370:T:C | I174T | 0.998 |
| 19:746288:T:A | V213D | 0.998 |
| 19:746554:T:C | F302L | 0.998 |
| 19:746555:T:C | F302S | 0.998 |
| 19:746556:C:A | F302L | 0.998 |
| 19:746556:C:G | F302L | 0.998 |
| 19:740370:T:G | I174S | 0.997 |
| 19:727577:G:C | R51P | 0.996 |
| 19:727589:T:C | L55P | 0.995 |
| 19:740364:T:A | V172D | 0.995 |
| 19:746354:T:C | L235P | 0.995 |
| 19:740370:T:A | I174N | 0.994 |
| 19:746555:T:G | F302C | 0.994 |
| 19:727015:G:C | R22P | 0.993 |
| 19:727586:G:C | W54S | 0.993 |
| 19:740471:G:C | D208H | 0.993 |
| 19:746560:G:C | G304R | 0.993 |
| 19:727569:G:C | K48N | 0.992 |
| 19:727569:G:T | K48N | 0.992 |
| 19:727564:T:C | S47P | 0.991 |
| 19:740360:T:C | S171P | 0.991 |
| 19:740463:T:A | V205D | 0.991 |
| 19:740472:A:T | D208V | 0.991 |
| 19:727084:T:C | L45P | 0.990 |
| 19:740465:T:G | Y206D | 0.990 |
| 19:727075:T:C | L42P | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000026709 (19:710242 C>T), RS1000083541 (19:745294 T>C), RS1000131498 (19:711414 G>T), RS1000133440 (19:740696 C>T), RS1000157380 (19:728142 G>A), RS1000188191 (19:745856 C>T), RS1000270952 (19:732789 G>A), RS1000387874 (19:728346 G>T), RS1000426541 (19:715958 T>C), RS1000475053 (19:724205 C>A,T), RS1000495269 (19:727328 C>G,T), RS1000531876 (19:715297 T>G), RS1000532808 (19:720048 G>A,T), RS1000590603 (19:748674 T>C), RS1000713743 (19:727521 C>G,T)
Disease associations
OMIM: gene MIM:608134 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006950_42 | Feeling worry | 6.000000e-09 |
| GCST008522_97 | Bitter alcoholic beverage consumption | 9.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009589 | worry measurement |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 2 |
| bisphenol S | increases expression, increases methylation | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | increases methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| tobacco tar | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Estradiol | increases expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1ZU | Abcam HeLa PALM KO | Cancer cell line | Female |
| CVCL_TB98 | HAP1 PALM (-) 1 | Cancer cell line | Male |
| CVCL_TB99 | HAP1 PALM (-) 2 | Cancer cell line | Male |
| CVCL_TC00 | HAP1 PALM (-) 3 | Cancer cell line | Male |
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.