TPD52L1
gene geneOn this page
Also known as D53hD53TPD53
Summary
TPD52L1 (TPD52 like 1, HGNC:12006) is a protein-coding gene on chromosome 6q22.31, encoding Tumor protein D53 (Q16890).
This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed.
Source: NCBI Gene 7164 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 36 total
- MANE Select transcript:
NM_003287
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12006 |
| Approved symbol | TPD52L1 |
| Name | TPD52 like 1 |
| Location | 6q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D53, hD53, TPD53 |
| Ensembl gene | ENSG00000111907 |
| Ensembl biotype | protein_coding |
| OMIM | 604069 |
| Entrez | 7164 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000304877, ENST00000368388, ENST00000368402, ENST00000392482, ENST00000392483, ENST00000524679, ENST00000527711, ENST00000528193, ENST00000530868, ENST00000532423, ENST00000532429, ENST00000532978, ENST00000534000, ENST00000534199, ENST00000534368, ENST00000571678, ENST00000576089
RefSeq mRNA: 8 — MANE Select: NM_003287
NM_001003395, NM_001003396, NM_001003397, NM_001292026, NM_001300994, NM_001318903, NM_001318907, NM_003287
CCDS: CCDS34527, CCDS34528, CCDS43502, CCDS5130, CCDS75513, CCDS75514, CCDS83122
Canonical transcript exons
ENST00000534000 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002194959 | 125153773 | 125153970 |
| ENSE00003508867 | 125248282 | 125248383 |
| ENSE00003600857 | 125229118 | 125229266 |
| ENSE00003617631 | 125253717 | 125253755 |
| ENSE00003675275 | 125257098 | 125257158 |
| ENSE00003687765 | 125220078 | 125220193 |
| ENSE00003692658 | 125262834 | 125264407 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 99.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.7837 / max 1387.3505, expressed in 1407 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 69644 | 23.7806 | 1219 |
| 69643 | 12.4820 | 1264 |
| 69645 | 7.3007 | 805 |
| 69647 | 0.5730 | 347 |
| 69648 | 0.5490 | 130 |
| 69646 | 0.4536 | 181 |
| 69656 | 0.2368 | 56 |
| 69657 | 0.1440 | 21 |
| 69654 | 0.1285 | 21 |
| 69653 | 0.0597 | 16 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.83 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.40 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.36 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.34 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.17 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.16 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.13 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.08 | gold quality |
| putamen | UBERON:0001874 | 98.87 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.80 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.78 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 98.69 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.57 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.56 | gold quality |
| mouth mucosa | UBERON:0003729 | 98.53 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.45 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.40 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.38 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.34 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.33 | gold quality |
| gingiva | UBERON:0001828 | 98.22 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.22 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.93 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.91 | gold quality |
| triceps brachii | UBERON:0001509 | 97.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.81 | gold quality |
| adrenal gland | UBERON:0002369 | 97.79 | gold quality |
| penis | UBERON:0000989 | 97.78 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.74 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 1576.02 |
| E-GEOD-98556 | yes | 560.56 |
| E-HCAD-1 | yes | 241.81 |
| E-HCAD-35 | yes | 80.49 |
| E-GEOD-135922 | yes | 47.52 |
| E-MTAB-10287 | yes | 47.27 |
| E-HCAD-10 | yes | 22.55 |
| E-GEOD-84465 | yes | 12.70 |
| E-MTAB-7249 | yes | 11.29 |
| E-MTAB-10137 | yes | 8.68 |
| E-HCAD-30 | no | 880.00 |
| E-ENAD-21 | no | 420.76 |
| E-GEOD-124858 | no | 236.18 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting TPD52L1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
Literature-anchored findings (GeneRIF, showing 3)
- These results identify 14-3-3 proteins as partners for hD53, and alternative splicing as a mechanism for regulating 14-3-3 binding. (PMID:12963375)
- a member of the tumor protein D52 family involved in cell proliferation and calcium signaling, up-regulates the ASK1-induced apoptosis [D53L1] (PMID:14761963)
- The results indicate that tumor protein D52-like 1 genes are not ubiquitously expressed in leukemic bone marrow in children, and that RNA sample parameters may influence measures of gene expression more than commonly appreciated. (PMID:16620967)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tpd52l1 | ENSDARG00000042548 |
| mus_musculus | Tpd52l1 | ENSMUSG00000000296 |
| rattus_norvegicus | Tpd52l1 | ENSRNOG00000021478 |
| drosophila_melanogaster | CG5174 | FBGN0034345 |
| caenorhabditis_elegans | WBGENE00008745 |
Paralogs (3): TPD52 (ENSG00000076554), TPD52L2 (ENSG00000101150), TPD52L3 (ENSG00000170777)
Protein
Protein identifiers
Tumor protein D53 — Q16890 (reviewed: Q16890)
Alternative names: Tumor protein D52-like 1
All UniProt accessions (5): Q16890, E9PNK6, E9PNQ9, E9PPQ1, J3KNE7
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Forms a homodimer or heterodimer with other members of the family.
Similarity. Belongs to the TPD52 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q16890-1 | 1 | yes |
| Q16890-2 | 2 | |
| Q16890-3 | 3 | |
| Q16890-4 | 4, +5hD53 | |
| Q16890-5 | 5 |
RefSeq proteins (8): NP_001003395, NP_001003396, NP_001003397, NP_001278955, NP_001287923, NP_001305832, NP_001305836, NP_003278* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007327 | TPD52 | Family |
Pfam: PF04201
UniProt features (19 total): modified residue 8, splice variant 5, sequence conflict 2, chain 1, region of interest 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q16890-F1 | 65.60 | 0.16 |
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 (8): 174, 29, 86, 122, 131, 133, 146, 149
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
MSigDB gene sets: 216 (showing top):
GOBP_REGULATION_OF_PHOSPHORYLATION, JAEGER_METASTASIS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, REACTOME_MEMBRANE_TRAFFICKING, MORF_RAD51L3, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, GOBP_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (4): G2/M transition of mitotic cell cycle (GO:0000086), positive regulation of MAP kinase activity (GO:0043406), positive regulation of JNK cascade (GO:0046330), positive regulation of apoptotic signaling pathway (GO:2001235)
GO Molecular Function (3): identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| trans-Golgi Network Vesicle Budding | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of MAPK cascade | 2 |
| cellular anatomical structure | 2 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G2/M phase transition | 1 |
| MAP kinase activity | 1 |
| regulation of MAP kinase activity | 1 |
| positive regulation of protein serine/threonine kinase activity | 1 |
| JNK cascade | 1 |
| regulation of JNK cascade | 1 |
| positive regulation of signal transduction | 1 |
| positive regulation of apoptotic process | 1 |
| apoptotic signaling pathway | 1 |
| regulation of apoptotic signaling pathway | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
660 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TPD52L1 | KDELR2 | P33947 | 572 |
| TPD52L1 | LRIG3 | Q6UXM1 | 567 |
| TPD52L1 | SLC34A2 | O95436 | 511 |
| TPD52L1 | TMEM106B | Q9NUM4 | 506 |
| TPD52L1 | TPD52L2 | O43399 | 498 |
| TPD52L1 | RET | P07949 | 481 |
| TPD52L1 | GOPC | Q9HD26 | 448 |
| TPD52L1 | LIMA1 | Q9UHB6 | 447 |
| TPD52L1 | RRP8 | O43159 | 414 |
| TPD52L1 | SLC6A17 | Q9H1V8 | 393 |
| TPD52L1 | FAM135B | Q49AJ0 | 380 |
| TPD52L1 | BBX | Q8WY36 | 374 |
| TPD52L1 | ROS1 | P08922 | 371 |
| TPD52L1 | TPM3 | P06753 | 370 |
| TPD52L1 | SDC4 | P31431 | 370 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| YWHAB | TPD52L1 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| YWHAB | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| TPD52 | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| TPD52L1 | TPD52 | psi-mi:“MI:0915”(physical association) | 0.660 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAZ | TPD52L1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| YWHAZ | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| TPD52L3 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| TPD52L1 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| AZIN2 | OAZ2 | psi-mi:“MI:0914”(association) | 0.530 |
| TPD52 | TPD52L2 | psi-mi:“MI:0914”(association) | 0.530 |
| AGMAT | DCX | psi-mi:“MI:0914”(association) | 0.500 |
| TPD52L1 | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABL2 | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TPD52L1 | PAK6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SFN | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tpd52 | TPD52L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (57): TPD52L1 (Affinity Capture-MS), ISYNA1 (Co-fractionation), TPD52L1 (Co-fractionation), TPD52L1 (Co-fractionation), UCHL3 (Co-fractionation), TPD52L1 (Affinity Capture-MS), TPD52L1 (Affinity Capture-MS), TPD52L1 (Affinity Capture-MS), TPD52L1 (Affinity Capture-RNA), TPD52L1 (Reconstituted Complex), TPD52L1 (Two-hybrid), GPR135 (Two-hybrid), HDAC1 (Two-hybrid), YAE1D1 (Two-hybrid), EIF3J (Two-hybrid)
ESM2 similar proteins: A5D7H2, A6QPI6, E1BWM5, F1N5S9, F1QH17, O35094, O43399, O43615, O54818, O60941, O70585, P55327, P58405, P84060, Q13033, Q16890, Q4R3C7, Q5BJS4, Q5R812, Q5RCT1, Q5SRX1, Q5VWJ9, Q5XGW6, Q5ZHP5, Q5ZJB7, Q5ZMQ0, Q62393, Q6GL11, Q6PCT3, Q6ZVM7, Q75Q41, Q8CE50, Q8IVP5, Q8K1Z0, Q8WUX9, Q95212, Q96IK1, Q96RU3, Q9CPQ3, Q9CYZ2
Diamond homologs: O43399, O54818, P55326, P55327, Q16890, Q5RCT1, Q62393, Q6PCT3, Q95212, Q96J77, Q9CYZ2, Q9I8F4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 42 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 138.4× | 3e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 122.1× | 4e-10 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 122.1× | 4e-10 |
| Activation of BH3-only proteins | 6 | 90.3× | 2e-09 |
| RHO GTPases activate PKNs | 7 | 67.3× | 4e-10 |
| Intrinsic Pathway for Apoptosis | 6 | 53.2× | 4e-08 |
| FOXO-mediated transcription | 5 | 50.9× | 1e-06 |
| G2/M Checkpoints | 8 | 32.6× | 4e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 6 | 16.1× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1579 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:125220064:A:AG | acceptor_gain | 1.0000 |
| 6:125220069:T:A | acceptor_gain | 1.0000 |
| 6:125220167:G:GT | donor_gain | 1.0000 |
| 6:125220190:TCAG:T | donor_loss | 1.0000 |
| 6:125220191:CAGGT:C | donor_loss | 1.0000 |
| 6:125220193:GGTA:G | donor_loss | 1.0000 |
| 6:125220194:G:C | donor_loss | 1.0000 |
| 6:125220195:T:G | donor_loss | 1.0000 |
| 6:125229108:C:CA | acceptor_gain | 1.0000 |
| 6:125229114:GTA:G | acceptor_loss | 1.0000 |
| 6:125229115:TAGC:T | acceptor_loss | 1.0000 |
| 6:125229116:A:AG | acceptor_gain | 1.0000 |
| 6:125229116:A:G | acceptor_loss | 1.0000 |
| 6:125229117:G:GA | acceptor_gain | 1.0000 |
| 6:125229117:G:T | acceptor_loss | 1.0000 |
| 6:125229117:GCTA:G | acceptor_gain | 1.0000 |
| 6:125229262:ACTGC:A | donor_gain | 1.0000 |
| 6:125229263:CTGC:C | donor_gain | 1.0000 |
| 6:125229264:TGC:T | donor_gain | 1.0000 |
| 6:125229265:GC:G | donor_gain | 1.0000 |
| 6:125229265:GCG:G | donor_gain | 1.0000 |
| 6:125229266:CGT:C | donor_loss | 1.0000 |
| 6:125229267:G:GG | donor_gain | 1.0000 |
| 6:125229267:G:T | donor_loss | 1.0000 |
| 6:125229268:TA:T | donor_loss | 1.0000 |
| 6:125229269:AA:A | donor_loss | 1.0000 |
| 6:125248280:A:AG | acceptor_gain | 1.0000 |
| 6:125248281:G:GA | acceptor_gain | 1.0000 |
| 6:125248281:GC:G | acceptor_gain | 1.0000 |
| 6:125248281:GCTA:G | acceptor_gain | 1.0000 |
AlphaMissense
1358 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:125248347:T:A | V117D | 0.997 |
| 6:125229161:A:T | K60I | 0.995 |
| 6:125248335:C:A | A113D | 0.995 |
| 6:125248325:G:C | A110P | 0.994 |
| 6:125248313:G:C | A106P | 0.993 |
| 6:125229140:T:C | L53P | 0.992 |
| 6:125229162:A:C | K60N | 0.992 |
| 6:125229162:A:T | K60N | 0.992 |
| 6:125248359:T:A | I121N | 0.992 |
| 6:125257133:T:A | V154D | 0.991 |
| 6:125257145:T:A | V158D | 0.991 |
| 6:125248283:T:G | Y96D | 0.990 |
| 6:125248314:C:A | A106E | 0.988 |
| 6:125257111:T:C | F147L | 0.986 |
| 6:125257113:C:A | F147L | 0.986 |
| 6:125257113:C:G | F147L | 0.986 |
| 6:125248334:G:C | A113P | 0.985 |
| 6:125229119:T:C | L46P | 0.984 |
| 6:125229143:G:C | R54P | 0.984 |
| 6:125229173:T:C | L64P | 0.983 |
| 6:125229241:T:A | W87R | 0.983 |
| 6:125229241:T:C | W87R | 0.983 |
| 6:125248359:T:G | I121S | 0.983 |
| 6:125257098:G:C | R142S | 0.983 |
| 6:125257098:G:T | R142S | 0.983 |
| 6:125229157:G:C | A59P | 0.982 |
| 6:125248326:C:A | A110E | 0.982 |
| 6:125257112:T:C | F147S | 0.981 |
| 6:125257121:T:C | F150S | 0.981 |
| 6:125248355:G:C | A120P | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000027106 (6:125230362 G>T), RS1000084038 (6:125229782 G>T), RS1000090963 (6:125224016 G>T), RS1000118764 (6:125222688 T>C), RS1000142717 (6:125180579 C>T), RS1000161050 (6:125206413 A>G), RS1000210680 (6:125155678 A>T), RS1000234134 (6:125164076 G>A), RS1000277374 (6:125249263 T>C), RS1000315547 (6:125235791 A>T), RS1000346003 (6:125200199 G>A), RS1000366031 (6:125152626 G>T), RS1000392768 (6:125243102 T>C), RS1000445352 (6:125158411 T>C,G), RS1000474960 (6:125158514 T>A,C)
Disease associations
OMIM: gene MIM:604069 | 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 |
|---|---|---|
| GCST003542_126 | Night sleep phenotypes | 9.000000e-06 |
| GCST012489_109 | Heel bone mineral density x serum urate levels interaction | 2.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
84 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects expression, affects cotreatment, increases expression, decreases expression | 8 |
| Valproic Acid | affects expression, affects cotreatment, increases expression | 7 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Cadmium Chloride | increases expression, decreases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Zoledronic Acid | decreases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Progesterone | increases expression, decreases expression, affects cotreatment | 2 |
| Testosterone | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| testosterone enanthate | affects expression | 1 |
| daidzein | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| ferric ammonium citrate | increases expression, decreases reaction | 1 |
| beta-lapachone | decreases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2JE | Abcam HeLa TPD52L1 KO | Cancer cell line | Female |
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.