JMY
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Also known as FLJ37870WHAMM2
Summary
JMY (junction mediating and regulatory protein, p53 cofactor, HGNC:28916) is a protein-coding gene on chromosome 5q14.1, encoding Junction-mediating and -regulatory protein (Q8N9B5). Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions.
Enables microtubule binding activity. Involved in cellular response to starvation. Located in autophagosome membrane; cell leading edge; and cytoplasmic vesicle.
Source: NCBI Gene 133746 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 163 total
- MANE Select transcript:
NM_152405
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28916 |
| Approved symbol | JMY |
| Name | junction mediating and regulatory protein, p53 cofactor |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ37870, WHAMM2 |
| Ensembl gene | ENSG00000152409 |
| Ensembl biotype | protein_coding |
| OMIM | 604279 |
| Entrez | 133746 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000396137, ENST00000412001, ENST00000850851, ENST00000925449, ENST00000925450, ENST00000925451, ENST00000967082, ENST00000967083
RefSeq mRNA: 1 — MANE Select: NM_152405
NM_152405
CCDS: CCDS4047
Canonical transcript exons
ENST00000396137 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001005014 | 79291130 | 79291299 |
| ENSE00001005016 | 79300153 | 79300318 |
| ENSE00001005020 | 79306375 | 79306461 |
| ENSE00001005029 | 79314257 | 79314851 |
| ENSE00001083544 | 79290121 | 79290271 |
| ENSE00001083548 | 79316000 | 79316310 |
| ENSE00001083552 | 79312403 | 79312498 |
| ENSE00001083553 | 79300676 | 79300863 |
| ENSE00001640429 | 79277910 | 79278083 |
| ENSE00001837691 | 79321606 | 79327211 |
| ENSE00001945884 | 79236131 | 79237682 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 98.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9825 / max 219.2260, expressed in 1712 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57234 | 11.1575 | 1704 |
| 57235 | 1.3744 | 384 |
| 57236 | 0.4505 | 139 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.44 | gold quality |
| sperm | CL:0000019 | 95.09 | gold quality |
| oocyte | CL:0000023 | 94.40 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.89 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.89 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.85 | gold quality |
| cartilage tissue | UBERON:0002418 | 92.92 | gold quality |
| upper leg skin | UBERON:0004262 | 92.09 | gold quality |
| secondary oocyte | CL:0000655 | 91.71 | gold quality |
| visceral pleura | UBERON:0002401 | 91.08 | gold quality |
| deltoid | UBERON:0001476 | 91.04 | gold quality |
| skin of hip | UBERON:0001554 | 90.94 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.94 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.83 | gold quality |
| upper arm skin | UBERON:0004263 | 90.80 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.52 | gold quality |
| parietal pleura | UBERON:0002400 | 90.46 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.17 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.13 | gold quality |
| decidua | UBERON:0002450 | 89.65 | gold quality |
| tibia | UBERON:0000979 | 89.37 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.91 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.77 | gold quality |
| gingiva | UBERON:0001828 | 88.52 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.22 | gold quality |
| cortical plate | UBERON:0005343 | 88.09 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 87.89 | gold quality |
| occipital lobe | UBERON:0002021 | 87.84 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.70 | gold quality |
| seminal vesicle | UBERON:0000998 | 87.59 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.27 |
| E-MTAB-6678 | yes | 4.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
305 targeting JMY, 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-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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
Literature-anchored findings (GeneRIF, showing 12)
- JMY represents a new class of multifunctional actin assembly factor whose activity is regulated, at least in part, by sequestration in the nucleus. (PMID:19287377)
- Data demonstrate a pathway that links the cytoskeleton with the p53 response, and further suggest that the ability of JMY to regulate actin and cadherin is instrumental in coordinating cell motility with the p53 response. (PMID:19897726)
- results establish the interplay between JMY and HIF-1alpha as a new mechanism that controls cell motility under hypoxic stress (PMID:21625218)
- JMY is expressed at high levels in brain tissue, and in various cell lines JMY is predominantly cytoplasmic, with a minor fraction in the nucleus. (PMID:21965285)
- actin assembly regulates nuclear import of JMY in response to DNA damage. (PMID:22262458)
- JMY is related to the severity of AS in Chinese Han patients. (PMID:23758122)
- JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients. (PMID:24069348)
- JMY was expressed in normal tissues and heterogeneously in different tumor types, with close correlation between cytoplasmic and nuclear expression. (PMID:25280461)
- In autophagosomes, the integrity of the WH2 domains allows JMY to promote actin nucleation, which is required for efficient autophagosome formation. (PMID:26223951)
- LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation. (PMID:30420355)
- Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions. (PMID:32363797)
- The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. (PMID:33872315)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | JMY | ENSDARG00000114796 |
| mus_musculus | Jmy | ENSMUSG00000021690 |
| rattus_norvegicus | Jmy | ENSRNOG00000050343 |
Paralogs (2): PRR11 (ENSG00000068489), WHAMM (ENSG00000156232)
Protein
Protein identifiers
Junction-mediating and -regulatory protein — Q8N9B5 (reviewed: Q8N9B5)
All UniProt accessions (1): Q8N9B5
UniProt curated annotations — full annotation on UniProt →
Function. Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin polymerization in the absence of Arp2/3, creating unbranched filaments. Contributes to cell motility by controlling actin dynamics. May promote the rapid formation of a branched actin network by first nucleating new mother filaments and then activating Arp2/3 to branch off these filaments. Upon nutrient stress, directly recruited by MAP1LC3B to the phagophore membrane surfaces to promote actin assembly during autophagy. The p53/TP53-cofactor and actin activator activities are regulated via its subcellular location.
Subunit / interactions. Interacts with p300/EP300, the complex activates p53/TP53 transcriptional activity. Interacts with TTC5; the interaction facilitates the association between JMY and p300/EP300. Interacts with MAP1LC3B; the interaction results in the activation of JYM’s nucleation activity in the cytoplasm. Interacts with TTC5/STRAP; the interaction results in the inhibition of JYM’s nucleation activity in the cytoplasm due to competition with MAP1LC3B binding.
Subcellular location. Nucleus. Cytoplasmic vesicle. Cytoplasm. Cytoskeleton. Endomembrane system. Autophagosome membrane.
Post-translational modifications. Ubiquitinated by MDM2, leading to its subsequent degradation by the proteasome. In case of DNA damage, the interaction with MDM2 is altered, preventing degradation and allowing interaction with p300/EP300 and its function in p53/TP53 stress response.
Domain organisation. The N-terminal region is involved in actin binding and actin nucleation activity.
Induction. By E2F.
Similarity. Belongs to the JMY family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N9B5-1 | 1 | yes |
| Q8N9B5-2 | 2 |
RefSeq proteins (1): NP_689618* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003124 | WH2_dom | Domain |
| IPR031738 | JMY/WHAMM | Domain |
| IPR031808 | JMY/WHAMM_N | Domain |
Pfam: PF15871, PF15920
UniProt features (26 total): compositionally biased region 6, region of interest 6, modified residue 5, coiled-coil region 3, sequence variant 3, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N9B5-F1 | 66.96 | 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 (5): 115, 121, 713, 888, 974
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-6804760 | Regulation of TP53 Activity through Methylation |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-3700989 | Transcriptional Regulation by TP53 |
| R-HSA-5633007 | Regulation of TP53 Activity |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 215 (showing top):
GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_DNA_DAMAGE_RESPONSE, LIAO_METASTASIS, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, PID_P53_DOWNSTREAM_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOMF_ACTIN_BINDING, SEMBA_FHIT_TARGETS_UP, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_ARP2_3_COMPLEX_MEDIATED_ACTIN_NUCLEATION, GOBP_ACTIN_NUCLEATION
GO Biological Process (10): DNA repair (GO:0006281), regulation of transcription by RNA polymerase II (GO:0006357), cellular response to starvation (GO:0009267), Arp2/3 complex-mediated actin nucleation (GO:0034314), positive regulation of apoptotic process (GO:0043065), ‘de novo’ actin filament nucleation (GO:0070060), actin polymerization-dependent cell motility (GO:0070358), intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332), DNA damage response (GO:0006974), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (5): transcription coactivator activity (GO:0003713), actin binding (GO:0003779), microtubule binding (GO:0008017), Arp2/3 complex binding (GO:0071933), protein binding (GO:0005515)
GO Cellular Component (9): autophagosome membrane (GO:0000421), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), endomembrane system (GO:0012505), cell leading edge (GO:0031252), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Regulation of TP53 Activity | 1 |
| RNA Polymerase II Transcription | 1 |
| Generic Transcription Pathway | 1 |
| Transcriptional Regulation by TP53 | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| regulation of DNA-templated transcription | 2 |
| cellular response to stress | 2 |
| actin nucleation | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| transcription by RNA polymerase II | 1 |
| cellular response to nutrient levels | 1 |
| response to starvation | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| cell motility | 1 |
| signal transduction by p53 class mediator | 1 |
| intrinsic apoptotic signaling pathway | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cytoskeletal protein binding | 1 |
| tubulin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| vacuolar membrane | 1 |
| autophagosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1051 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JMY | EP300 | Q09472 | 956 |
| JMY | TP53 | P04637 | 844 |
| JMY | WAS | P42768 | 823 |
| JMY | WASF1 | Q92558 | 799 |
| JMY | GOLGA2 | Q08379 | 594 |
| JMY | COBL | O75128 | 593 |
| JMY | WASF2 | Q9Y6W5 | 573 |
| JMY | SPIRE2 | Q8WWL2 | 564 |
| JMY | SPIRE1 | Q08AE8 | 548 |
| JMY | TTC5 | Q8N0Z6 | 544 |
| JMY | FMN2 | Q9NZ56 | 538 |
| JMY | LMOD2 | Q6P5Q4 | 525 |
| JMY | LMOD3 | Q0VAK6 | 498 |
| JMY | PFN4 | Q8NHR9 | 470 |
| JMY | LMOD1 | P29536 | 464 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| AFF4 | ELL2 | psi-mi:“MI:0914”(association) | 0.730 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| PTGR3 | DBT | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| PPP1R1A | ACTA1 | psi-mi:“MI:0914”(association) | 0.530 |
| JMY | MDM2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MDM2 | JMY | psi-mi:“MI:0915”(physical association) | 0.400 |
| JMY | HSPE1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JMY | SERPINH1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TP53 | JMY | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAB21L2 | PTBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDKN3 | CST8 | psi-mi:“MI:0914”(association) | 0.350 |
| USP51 | GSTA1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAK16 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF398 | DCTN3 | psi-mi:“MI:0914”(association) | 0.350 |
| GKN1 | TMOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CPNE4 | JMY | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | JMY | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDC5L | JMY | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (55): JMY (Two-hybrid), JMY (Affinity Capture-MS), JMY (Affinity Capture-MS), JMY (Two-hybrid), JMY (Affinity Capture-MS), JMY (Affinity Capture-MS), JMY (Affinity Capture-MS), JMY (Affinity Capture-MS), JMY (Affinity Capture-MS), TTC5 (Two-hybrid), JMY (Affinity Capture-Western), JMY (Affinity Capture-Western), JMY (Affinity Capture-RNA), JMY (Affinity Capture-Western), JMY (Reconstituted Complex)
ESM2 similar proteins: A1A4V9, A2A8U2, A4IFI1, A8E4X8, B0BMZ6, F1R7R1, G5E8P0, O75161, P12755, P59017, P59240, P85299, P97432, Q14DQ1, Q2HJA5, Q3B7M3, Q3U0L2, Q3ZBK7, Q3ZK22, Q53GS7, Q569K6, Q58DT5, Q5FVG6, Q5RAS2, Q5SNT2, Q5T7N3, Q5XI52, Q60698, Q6NZQ0, Q80U62, Q812A5, Q8C0R7, Q8C190, Q8CC12, Q8IWY9, Q8IYY4, Q8N9B5, Q8NFW9, Q8R1F1, Q8R322
Diamond homologs: A8E4X8, Q1A5X7, Q571B6, Q6NVC9, Q8N9B5, Q8TF30, Q9QXM1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| JMY | “up-regulates activity” | ARP2/3 | binding |
| TTC5 | “up-regulates activity” | JMY | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
163 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 142 |
| Likely benign | 4 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2342 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:79237679:GGAG:G | donor_gain | 1.0000 |
| 5:79237680:GAG:G | donor_gain | 1.0000 |
| 5:79237680:GAGG:G | donor_gain | 1.0000 |
| 5:79237682:GGT:G | donor_loss | 1.0000 |
| 5:79237683:G:GG | donor_gain | 1.0000 |
| 5:79237684:T:G | donor_loss | 1.0000 |
| 5:79277907:C:G | acceptor_gain | 1.0000 |
| 5:79277908:A:AG | acceptor_gain | 1.0000 |
| 5:79277908:AGCTC:A | acceptor_loss | 1.0000 |
| 5:79277909:G:GT | acceptor_gain | 1.0000 |
| 5:79277909:GC:G | acceptor_gain | 1.0000 |
| 5:79277909:GCT:G | acceptor_gain | 1.0000 |
| 5:79277909:GCTC:G | acceptor_gain | 1.0000 |
| 5:79277909:GCTCT:G | acceptor_gain | 1.0000 |
| 5:79278080:CAAG:C | donor_loss | 1.0000 |
| 5:79278082:AGG:A | donor_loss | 1.0000 |
| 5:79278083:GGT:G | donor_loss | 1.0000 |
| 5:79278084:G:A | donor_loss | 1.0000 |
| 5:79278085:T:A | donor_loss | 1.0000 |
| 5:79290116:T:A | acceptor_gain | 1.0000 |
| 5:79290116:TGAA:T | acceptor_loss | 1.0000 |
| 5:79290116:TGAAG:T | acceptor_gain | 1.0000 |
| 5:79290117:GAAG:G | acceptor_loss | 1.0000 |
| 5:79290117:GAAGA:G | acceptor_gain | 1.0000 |
| 5:79290119:A:AG | acceptor_gain | 1.0000 |
| 5:79290120:G:GA | acceptor_gain | 1.0000 |
| 5:79290120:GA:G | acceptor_gain | 1.0000 |
| 5:79290120:GAT:G | acceptor_gain | 1.0000 |
| 5:79290120:GATT:G | acceptor_gain | 1.0000 |
| 5:79290120:GATTT:G | acceptor_gain | 1.0000 |
AlphaMissense
6413 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:79236736:T:C | F29S | 1.000 |
| 5:79236742:T:C | F31S | 1.000 |
| 5:79236775:T:C | F42S | 1.000 |
| 5:79236781:T:A | I44K | 1.000 |
| 5:79236786:T:C | C46R | 1.000 |
| 5:79236788:C:G | C46W | 1.000 |
| 5:79236789:C:G | H47D | 1.000 |
| 5:79237363:T:C | L238P | 1.000 |
| 5:79237384:T:C | L245P | 1.000 |
| 5:79237578:T:C | F310L | 1.000 |
| 5:79237580:C:A | F310L | 1.000 |
| 5:79237580:C:G | F310L | 1.000 |
| 5:79237605:T:C | Y319H | 1.000 |
| 5:79237627:T:C | L326P | 1.000 |
| 5:79277950:T:C | L358P | 1.000 |
| 5:79278013:T:C | L379P | 1.000 |
| 5:79278028:T:C | L384P | 1.000 |
| 5:79278034:C:A | P386Q | 1.000 |
| 5:79278040:G:C | R388P | 1.000 |
| 5:79278049:G:C | R391T | 1.000 |
| 5:79278049:G:T | R391I | 1.000 |
| 5:79278050:A:C | R391S | 1.000 |
| 5:79278050:A:T | R391S | 1.000 |
| 5:79278055:T:C | L393P | 1.000 |
| 5:79278057:G:C | A394P | 1.000 |
| 5:79278058:C:A | A394D | 1.000 |
| 5:79278064:T:C | L396P | 1.000 |
| 5:79290146:G:A | G411E | 1.000 |
| 5:79290167:T:C | L418P | 1.000 |
| 5:79290187:T:A | W425R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016266 (5:79247138 A>C,G), RS1000142913 (5:79296422 G>A), RS1000154019 (5:79262896 G>T), RS1000203913 (5:79311094 T>C), RS1000251495 (5:79289559 C>G,T), RS1000268997 (5:79263203 A>G), RS1000394236 (5:79238173 G>C), RS1000401047 (5:79309424 T>C), RS1000410922 (5:79309903 C>T), RS1000419987 (5:79256799 G>A), RS1000422544 (5:79279903 G>A), RS1000464863 (5:79262794 C>A), RS1000473801 (5:79268230 G>C), RS1000488076 (5:79279699 AC>A), RS1000494877 (5:79324282 A>G)
Disease associations
OMIM: gene MIM:604279 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002670_10 | Blood and toenail selenium levels | 8.000000e-20 |
| GCST002670_2 | Blood and toenail selenium levels | 6.000000e-11 |
| GCST002670_3 | Blood and toenail selenium levels | 4.000000e-12 |
| GCST002671_16 | Toenail selenium levels | 5.000000e-06 |
| GCST002671_6 | Toenail selenium levels | 2.000000e-11 |
| GCST002671_7 | Toenail selenium levels | 1.000000e-07 |
| GCST011681_5 | Cryptococcosis in HIV infection | 7.000000e-06 |
| GCST90002401_167 | Platelet distribution width | 1.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
78 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 6 |
| Cyclosporine | increases expression | 4 |
| Estradiol | increases expression | 3 |
| arsenite | increases expression, affects binding, decreases reaction, increases abundance | 2 |
| Testosterone | affects cotreatment, increases expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| afuresertib | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| monomethylarsonic acid | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| arsenic acid | increases abundance, increases expression | 1 |
| didecyldimethylammonium | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_ST80 | HAP1 JMY (-) 1 | Cancer cell line | Male |
| CVCL_ST81 | HAP1 JMY (-) 2 | Cancer cell line | Male |
| CVCL_ST82 | HAP1 JMY (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cryptococcosis