JPT1
gene geneOn this page
Also known as ARM2HN1A
Summary
JPT1 (Jupiter microtubule associated homolog 1, HGNC:14569) is a protein-coding gene on chromosome 17q25.1, encoding Jupiter microtubule associated homolog 1 (Q9UK76). Modulates negatively AKT-mediated GSK3B signaling.
Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm.
Source: NCBI Gene 51155 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_016185
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14569 |
| Approved symbol | JPT1 |
| Name | Jupiter microtubule associated homolog 1 |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARM2, HN1A |
| Ensembl gene | ENSG00000189159 |
| Ensembl biotype | protein_coding |
| OMIM | 619242 |
| Entrez | 51155 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000304834, ENST00000356033, ENST00000409753, ENST00000465454, ENST00000470924, ENST00000476258, ENST00000481094, ENST00000481647, ENST00000482348, ENST00000580380, ENST00000581874, ENST00000584079, ENST00000882069
RefSeq mRNA: 6 — MANE Select: NM_016185
NM_001002032, NM_001002033, NM_001288609, NM_001288610, NM_001288611, NM_016185
CCDS: CCDS32729, CCDS45771, CCDS45772
Canonical transcript exons
ENST00000409753 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002449517 | 75135248 | 75136250 |
| ENSE00003496814 | 75154342 | 75154512 |
| ENSE00003503318 | 75148529 | 75148671 |
| ENSE00003520709 | 75146666 | 75146684 |
| ENSE00003587440 | 75147556 | 75147653 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 193.4594 / max 1425.7041, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168041 | 192.2673 | 1827 |
| 168042 | 0.7186 | 356 |
| 168038 | 0.4167 | 217 |
| 168040 | 0.0568 | 3 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 99.61 | gold quality |
| cortical plate | UBERON:0005343 | 99.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.60 | gold quality |
| right testis | UBERON:0004534 | 99.57 | gold quality |
| ventricular zone | UBERON:0003053 | 99.34 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.94 | gold quality |
| testis | UBERON:0000473 | 98.59 | gold quality |
| embryo | UBERON:0000922 | 98.51 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.29 | gold quality |
| adult organism | UBERON:0007023 | 98.16 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.93 | gold quality |
| blood | UBERON:0000178 | 97.40 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.88 | gold quality |
| granulocyte | CL:0000094 | 96.74 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 96.63 | gold quality |
| rectum | UBERON:0001052 | 96.58 | gold quality |
| vermiform appendix | UBERON:0001154 | 96.58 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.58 | gold quality |
| monocyte | CL:0000576 | 96.53 | gold quality |
| cerebellum | UBERON:0002037 | 96.50 | gold quality |
| gall bladder | UBERON:0002110 | 96.46 | gold quality |
| duodenum | UBERON:0002114 | 96.37 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.20 | gold quality |
| leukocyte | CL:0000738 | 96.18 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.16 | gold quality |
| mononuclear cell | CL:0000842 | 96.08 | gold quality |
| gingiva | UBERON:0001828 | 95.93 | gold quality |
| oral cavity | UBERON:0000167 | 95.80 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.62 | gold quality |
Single-cell (SCXA)
Detected in 21 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 2541.38 |
| E-HCAD-4 | yes | 64.69 |
| E-MTAB-9467 | yes | 31.96 |
| E-GEOD-134144 | yes | 30.82 |
| E-HCAD-10 | yes | 25.33 |
| E-GEOD-135922 | yes | 22.52 |
| E-CURD-46 | yes | 22.29 |
| E-HCAD-13 | yes | 21.38 |
| E-MTAB-6678 | yes | 17.32 |
| E-GEOD-125970 | yes | 14.96 |
| E-MTAB-10042 | yes | 9.72 |
| E-MTAB-10553 | yes | 7.99 |
| E-CURD-88 | yes | 6.44 |
| E-MTAB-9154 | no | 1865.35 |
| E-MTAB-11121 | no | 1335.38 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR
miRNA regulators (miRDB)
28 targeting JPT1, 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-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-4752 | 98.71 | 68.04 | 833 |
| HSA-MIR-376B-5P | 98.46 | 66.40 | 606 |
| HSA-MIR-376C-5P | 98.46 | 66.64 | 589 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-22-5P | 97.67 | 68.92 | 1355 |
| HSA-MIR-4794 | 96.47 | 65.53 | 1063 |
| HSA-MIR-1266-3P | 96.23 | 66.36 | 778 |
| HSA-MIR-664A-5P | 95.84 | 64.93 | 949 |
| HSA-MIR-4520-5P | 93.54 | 65.23 | 140 |
Literature-anchored findings (GeneRIF, showing 14)
- These data suggest a role for Hn1 in the biology of malignant brain tumors. (PMID:19145478)
- EGF and kinase inhibitors increase HN1 expression, and Silencing of HN1 results in cell cycle alterations in prostate cells. (PMID:21323578)
- HN1 maintains a balance between the androgen-regulated nuclear translocation of androgen receptor and steady-state Akt phosphorylation, predominantly in the absence of androgens. (PMID:22155408)
- Data report that HN1 is an essential factor for beta-catenin turnover and signaling, augments cell growth and migration in prostate cancer cells. (PMID:25169422)
- miR-132 is significantly down-regulated in breast cancer tissues and cancer cell lines. Additional study identifies HN1 as a novel direct target of miR-132. MiR-132 down-regulates HN1 expression by binding to the 3’ UTR of HN1. (PMID:25450365)
- Downregulation of MYC abrogated the effect of HN1 overexpression in breast cancer cell lines. Taken together, these data reveal that HN1 promotes the progression of breast cancer by upregulating MYC expression, and might be a therapeutic target for breast cancer. (PMID:28490334)
- HNRNPA1-mediated alternative polyadenylation of HN1 contributes to cancer- and senescence-related phenotypes. (PMID:31257225)
- Jupiter microtubule-associated homolog 1 (JPT1): A predictive and pharmacodynamic biomarker of metformin response in endometrial cancers. (PMID:31808620)
- HN1 as a diagnostic and prognostic biomarker for liver cancer. (PMID:32700728)
- HN1 promotes tumor associated lymphangiogenesis and lymph node metastasis via NF-kappaB signaling activation in cervical carcinoma. (PMID:32828320)
- LncRNA HOXA11-AS promotes cell growth by sponging miR-24-3p to regulate JPT1 in prostate cancer. (PMID:34337714)
- Hematological and neurological expressed 1 (HN1) activates c-Myc signaling by inhibiting ubiquitin-mediated proteasomal degradation of c-Myc in hepatocellular carcinoma. (PMID:36403281)
- Thirdhand Smoke May Promote Lung Adenocarcinoma Development through HN1. (PMID:36756386)
- Role of hematological and neurological expressed 1 (HN1) in human cancers. (PMID:38992849)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Jpt1 | ENSMUSG00000020737 |
| rattus_norvegicus | Jpt1 | ENSRNOG00000003661 |
Protein
Protein identifiers
Jupiter microtubule associated homolog 1 — Q9UK76 (reviewed: Q9UK76)
Alternative names: Androgen-regulated protein 2, Hematological and neurological expressed 1 protein
All UniProt accessions (4): F2Z3M5, J3KSH8, J3KT51, Q9UK76
UniProt curated annotations — full annotation on UniProt →
Function. Modulates negatively AKT-mediated GSK3B signaling. Induces CTNNB1 ‘Ser-33’ phosphorylation and degradation through the suppression of the inhibitory ‘Ser-9’ phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions. Plays a role in the regulation of cell cycle and cell adhesion. Has an inhibitory role on AR-signaling pathway through the induction of receptor proteasomal degradation.
Subunit / interactions. Interacts with the complex composed, at least, of APC, CTNNB1 and GSK3B; the interaction takes place with the inactive form of GSK3B (phosphorylated at ‘Ser-9’).
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in testis, skeletal muscle, thymus, prostate, colon, peripheral blood cells, brain and placenta.
Induction. Induced by EGF growth factor at mRNA and protein levels. Induced by androgens. Negatively regulated by the microRNA miR-132.
Similarity. Belongs to the JUPITER family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UK76-1 | 1, HN1A | yes |
| Q9UK76-2 | 2, HN1B | |
| Q9UK76-3 | 3, HN1C |
RefSeq proteins (6): NP_001002032, NP_001002033, NP_001275538, NP_001275539, NP_001275540, NP_057269* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033335 | JUPITER | Family |
Pfam: PF17054
UniProt features (25 total): modified residue 12, compositionally biased region 6, chain 2, splice variant 2, initiator methionine 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UK76-F1 | 63.35 | 0.00 |
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 (12): 1, 2, 28, 31, 54, 71, 80, 87, 88, 92, 131, 148
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 285 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, PAL_PRMT5_TARGETS_UP, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, AREB6_01, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, WEI_MYCN_TARGETS_WITH_E_BOX, RICKMAN_METASTASIS_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, LE_EGR2_TARGETS_UP
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
342 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JPT1 | JPT2 | Q9H910 | 718 |
| JPT1 | NUPR1 | O60356 | 407 |
| JPT1 | RBM25 | P49756 | 397 |
| JPT1 | GET1 | O00258 | 348 |
| JPT1 | CFAP68 | Q9H5F2 | 337 |
| JPT1 | ELMO2 | Q96JJ3 | 307 |
| JPT1 | SHLD2 | Q86V20 | 306 |
| JPT1 | TAF15 | Q92804 | 287 |
| JPT1 | ADRM1 | Q16186 | 286 |
| JPT1 | SNRPG | P62308 | 282 |
| JPT1 | KLHL11 | Q9NVR0 | 258 |
| JPT1 | USO1 | O60763 | 248 |
| JPT1 | LGALS4 | P56470 | 246 |
| JPT1 | PRTG | Q2VWP7 | 240 |
| JPT1 | CCDC12 | Q8WUD4 | 239 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| JPT1 | OTX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCK | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIP1 | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GLB1 | JPT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JPT1 | COL20A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAV1 | PPM1G | psi-mi:“MI:0914”(association) | 0.350 |
| ULK1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSMC4 | PSMD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (55): HN1 (Affinity Capture-RNA), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Co-fractionation), HN1 (Proximity Label-MS), HN1 (Affinity Capture-MS), HN1 (Proximity Label-MS), HN1 (Proximity Label-MS), HN1 (Proximity Label-MS), HN1 (Co-fractionation), HN1 (Affinity Capture-RNA)
ESM2 similar proteins: A4FUE7, B3H4F1, B3M0Y8, B3P4I7, B4GMI7, B4HI06, B4JUG8, B4KBL1, B4M5L0, B4N8G6, B4PU44, B4QU20, B9DGG8, F4I5N6, O22611, O74417, P52870, P93017, P97825, Q10009, Q28CM8, Q2QQ99, Q2R0W8, Q3T0T5, Q4KLN7, Q5PPV5, Q5R787, Q5REC0, Q6AXU6, Q7JW27, Q7SXT7, Q7XQ83, Q7Y1L9, Q8BJH1, Q8CHU3, Q8H100, Q8IVN3, Q8LGD1, Q8N6H7, Q91W18
Diamond homologs: B3M0Y8, B3P4I7, B4GMI7, B4HI06, B4JUG8, B4KBL1, B4M5L0, B4N8G6, B4PU44, B4QU20, P97825, Q6AXU6, Q9H910, Q9I7K0, Q9UK76, Q6PGH2, Q3T0T5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Infectious disease | 6 | 6.0× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1074 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:75144871:G:C | acceptor_gain | 1.0000 |
| 17:75147551:CTGA:C | donor_loss | 1.0000 |
| 17:75147553:GA:G | donor_loss | 1.0000 |
| 17:75147554:A:AG | donor_loss | 1.0000 |
| 17:75147555:CCT:C | donor_loss | 1.0000 |
| 17:75147652:ACCTA:A | acceptor_loss | 1.0000 |
| 17:75147653:CCTAA:C | acceptor_loss | 1.0000 |
| 17:75147654:C:CA | acceptor_loss | 1.0000 |
| 17:75147654:C:CC | acceptor_gain | 1.0000 |
| 17:75147655:T:A | acceptor_loss | 1.0000 |
| 17:75148524:AGTAC:A | donor_loss | 1.0000 |
| 17:75148525:GTAC:G | donor_loss | 1.0000 |
| 17:75148526:TA:T | donor_loss | 1.0000 |
| 17:75148527:A:AG | donor_loss | 1.0000 |
| 17:75148528:CCT:C | donor_loss | 1.0000 |
| 17:75148670:CT:C | acceptor_gain | 1.0000 |
| 17:75148672:C:CC | acceptor_gain | 1.0000 |
| 17:75154352:T:TA | donor_gain | 1.0000 |
| 17:75154372:C:CA | donor_gain | 1.0000 |
| 17:75144682:CAA:C | donor_gain | 0.9900 |
| 17:75144871:G:GC | acceptor_gain | 0.9900 |
| 17:75144873:G:C | acceptor_gain | 0.9900 |
| 17:75144873:G:GC | acceptor_gain | 0.9900 |
| 17:75146660:ACTT:A | donor_loss | 0.9900 |
| 17:75146661:CTT:C | donor_loss | 0.9900 |
| 17:75146662:TTAC:T | donor_loss | 0.9900 |
| 17:75146663:TA:T | donor_loss | 0.9900 |
| 17:75146664:A:AT | donor_loss | 0.9900 |
| 17:75147651:CAC:C | acceptor_gain | 0.9900 |
| 17:75148527:ACCTG:A | donor_gain | 0.9900 |
AlphaMissense
994 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:75148654:C:T | G25D | 0.999 |
| 17:75148666:A:G | L21S | 0.999 |
| 17:75154377:G:C | F7L | 0.999 |
| 17:75154377:G:T | F7L | 0.999 |
| 17:75154379:A:G | F7L | 0.999 |
| 17:75136107:C:G | G154R | 0.998 |
| 17:75136115:A:T | L151H | 0.998 |
| 17:75136117:G:C | S150R | 0.998 |
| 17:75136117:G:T | S150R | 0.998 |
| 17:75136119:T:G | S150R | 0.998 |
| 17:75136127:C:T | G147D | 0.998 |
| 17:75136130:C:T | G146D | 0.998 |
| 17:75148572:A:C | F52L | 0.998 |
| 17:75148572:A:T | F52L | 0.998 |
| 17:75148574:A:G | F52L | 0.998 |
| 17:75148651:C:T | G26D | 0.998 |
| 17:75148657:G:T | P24Q | 0.998 |
| 17:75148669:A:T | V20D | 0.998 |
| 17:75154347:G:C | S17R | 0.998 |
| 17:75154347:G:T | S17R | 0.998 |
| 17:75154349:T:G | S17R | 0.998 |
| 17:75154373:C:G | G9R | 0.998 |
| 17:75154373:C:T | G9R | 0.998 |
| 17:75154378:A:G | F7S | 0.998 |
| 17:75136106:C:T | G154D | 0.997 |
| 17:75136115:A:G | L151P | 0.997 |
| 17:75136128:C:G | G147R | 0.997 |
| 17:75148652:C:G | G26R | 0.997 |
| 17:75148655:C:G | G25R | 0.997 |
| 17:75148666:A:C | L21W | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000108112 (17:75144526 A>T), RS1000299 (17:75152458 G>A), RS1000449394 (17:75155847 G>T), RS1000872486 (17:75151707 C>T), RS1000944120 (17:75151416 G>A), RS1000959719 (17:75149229 G>A), RS1001109754 (17:75143201 C>G,T), RS1001250032 (17:75145449 A>G), RS1001329256 (17:75144248 A>G), RS1001340630 (17:75150072 G>A,T), RS1001677470 (17:75143952 G>A), RS1002219577 (17:75143021 C>A,T), RS1002769183 (17:75136962 G>A), RS1002823273 (17:75137319 A>AGTTT), RS1002884040 (17:75154490 C>A,T)
Disease associations
OMIM: gene MIM:619242 | 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 |
|---|---|---|
| GCST012020_530 | Serum metabolite levels | 1.000000e-25 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 4 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | decreases expression | 2 |
| sodium arsenite | affects expression, decreases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Okadaic Acid | increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| deoxynivalenol | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cupric oxide | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1ZC | HAP1 HN1 (-) 1 | Cancer cell line | Male |
| CVCL_E1ZD | HAP1 HN1 (-) 2 | Cancer cell line | Male |
| CVCL_E1ZE | HAP1 HN1 (-) 3 | Cancer cell line | Male |
| CVCL_E1ZF | HAP1 HN1 (-) 4 | 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.