JADE2
gene geneOn this page
Also known as KIAA0239JADE-2
Summary
JADE2 (jade family PHD finger 2, HGNC:22984) is a protein-coding gene on chromosome 5q31.1, encoding E3 ubiquitin-protein ligase Jade-2 (Q9NQC1). Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity.
Enables histone H4K12 acetyltransferase activity; histone H4K5 acetyltransferase activity; and histone H4K8 acetyltransferase activity. Contributes to histone H3K14 acetyltransferase activity. Involved in regulation of DNA biosynthetic process; regulation of DNA replication; and regulation of cell cycle. Located in nucleoplasm. Part of histone acetyltransferase complex.
Source: NCBI Gene 23338 — RefSeq curated summary.
At a glance
- GWAS associations: 45
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_001388185
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22984 |
| Approved symbol | JADE2 |
| Name | jade family PHD finger 2 |
| Location | 5q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0239, JADE-2 |
| Ensembl gene | ENSG00000043143 |
| Ensembl biotype | protein_coding |
| OMIM | 610515 |
| Entrez | 23338 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 35 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000282605, ENST00000361895, ENST00000395003, ENST00000402835, ENST00000430087, ENST00000431355, ENST00000453515, ENST00000470876, ENST00000512386, ENST00000515554, ENST00000612830, ENST00000680418, ENST00000681019, ENST00000681498, ENST00000681547, ENST00000681792, ENST00000681820, ENST00000892462, ENST00000892463, ENST00000892464, ENST00000892465, ENST00000892466, ENST00000892467, ENST00000892468, ENST00000892470, ENST00000892471, ENST00000892474, ENST00000892476, ENST00000892478, ENST00000892479, ENST00000892481, ENST00000930756, ENST00000930757, ENST00000930758, ENST00000930759, ENST00000930760, ENST00000930761, ENST00000930762, ENST00000946716, ENST00000946717, ENST00000946718, ENST00000946719
RefSeq mRNA: 8 — MANE Select: NM_001388185
NM_001289984, NM_001289985, NM_001308143, NM_001388185, NM_001388186, NM_001388187, NM_001388188, NM_015288
CCDS: CCDS4176, CCDS75305, CCDS78061, CCDS93782
Canonical transcript exons
ENST00000681547 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001006706 | 134537989 | 134538083 |
| ENSE00001274664 | 134573645 | 134573762 |
| ENSE00001274680 | 134562200 | 134562367 |
| ENSE00001274730 | 134564494 | 134564610 |
| ENSE00001274738 | 134560746 | 134560957 |
| ENSE00003465802 | 134552052 | 134552209 |
| ENSE00003520701 | 134535858 | 134535915 |
| ENSE00003540202 | 134576768 | 134576896 |
| ENSE00003603447 | 134566116 | 134566580 |
| ENSE00003644936 | 134559830 | 134559990 |
| ENSE00003915168 | 134525670 | 134526011 |
| ENSE00003922142 | 134578494 | 134583227 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 94.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5110 / max 145.1104, expressed in 1751 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58584 | 8.1864 | 1583 |
| 58582 | 1.7747 | 883 |
| 58583 | 1.3192 | 738 |
| 58586 | 0.7732 | 423 |
| 58587 | 0.7092 | 384 |
| 58585 | 0.6878 | 360 |
| 58590 | 0.0274 | 12 |
| 58588 | 0.0201 | 11 |
| 58589 | 0.0130 | 7 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 94.01 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.75 | gold quality |
| endothelial cell | CL:0000115 | 93.06 | gold quality |
| granulocyte | CL:0000094 | 92.32 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 91.72 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.59 | gold quality |
| eye | UBERON:0000970 | 91.47 | gold quality |
| sural nerve | UBERON:0015488 | 91.11 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.84 | gold quality |
| parotid gland | UBERON:0001831 | 90.56 | gold quality |
| lymph node | UBERON:0000029 | 90.29 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 89.82 | gold quality |
| renal glomerulus | UBERON:0000074 | 89.80 | gold quality |
| blood | UBERON:0000178 | 89.52 | gold quality |
| superficial temporal artery | UBERON:0001614 | 89.33 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.15 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.96 | gold quality |
| visceral pleura | UBERON:0002401 | 88.93 | gold quality |
| postcentral gyrus | UBERON:0002581 | 88.93 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.87 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.70 | gold quality |
| seminal vesicle | UBERON:0000998 | 88.65 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.54 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.49 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.48 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 88.43 | gold quality |
| parietal lobe | UBERON:0001872 | 88.39 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.15 | gold quality |
| adult organism | UBERON:0007023 | 88.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
198 targeting JADE2, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | jade2 | ENSDARG00000053389 |
| mus_musculus | Jade2 | ENSMUSG00000020387 |
| rattus_norvegicus | Jade2 | ENSRNOG00000004956 |
| drosophila_melanogaster | Br140 | FBGN0033155 |
| caenorhabditis_elegans | WBGENE00003034 | |
| caenorhabditis_elegans | WBGENE00021810 |
Paralogs (8): JADE1 (ENSG00000077684), MLLT10 (ENSG00000078403), BRPF3 (ENSG00000096070), BRD1 (ENSG00000100425), JADE3 (ENSG00000102221), PHF14 (ENSG00000106443), BRPF1 (ENSG00000156983), MLLT6 (ENSG00000275023)
Protein
Protein identifiers
E3 ubiquitin-protein ligase Jade-2 — Q9NQC1 (reviewed: Q9NQC1)
Alternative names: Jade family PHD finger protein 2, PHD finger protein 15
All UniProt accessions (10): A0A087X085, A0A0C4DFT8, A0A7P0T8T0, A0A7P0TAP8, A0A7P0Z4H4, B5MBX1, C9J929, Q9NQC1, G3XAA4, H7C0P2
UniProt curated annotations — full annotation on UniProt →
Function. Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity. Acts as an E3 ubiquitin-protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A. Also acts as a ubiquitin ligase E3 toward itself. Positive regulator of neurogenesis.
Subunit / interactions. Component of the HBO1 complex composed at least of ING4 or ING5, MYST2/HBO1, MEAF6, and one of JADE1, JADE2 and JADE3. Interacts (via C-terminus) with KDM1A (via AOD/Tower domain).
Domain organisation. The first PHD domain is essential for its E3 ubiquitin ligase activity.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the JADE family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQC1-1 | 1 | yes |
| Q9NQC1-2 | 2 | |
| Q9NQC1-3 | 3 |
RefSeq proteins (8): NP_001276913, NP_001276914, NP_001295072, NP_001375114, NP_001375115, NP_001375116, NP_001375117, NP_056103 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001965 | Znf_PHD | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR019542 | Enhancer_polycomb-like_N | Domain |
| IPR019786 | Zinc_finger_PHD-type_CS | Conserved_site |
| IPR019787 | Znf_PHD-finger | Domain |
| IPR034732 | EPHD | Domain |
| IPR039548 | JADE2_PHD | Domain |
| IPR039549 | JADE2_ePHD | Domain |
| IPR050701 | Histone_Mod_Regulator | Family |
Pfam: PF10513, PF13831, PF13832
UniProt features (26 total): compositionally biased region 6, modified residue 6, region of interest 4, zinc finger region 3, splice variant 2, mutagenesis site 2, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQC1-F1 | 62.79 | 0.22 |
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): 9, 15, 32, 38, 117, 298
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 202 | loss of e3 ubiquitin-protein ligase activity on kdm1a. |
| 243 | loss of e3 ubiquitin-protein ligase activity on kdm1a. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
MSigDB gene sets: 404 (showing top):
E2F_Q4, E2F_Q4_01, RRAGTTGT_UNKNOWN, FREAC2_01, PAX4_01, TGCGCANK_UNKNOWN, E2F4DP1_01, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, AAGTCCA_MIR422B_MIR422A, CMYB_01, TTTGTAG_MIR520D, SP3_Q3, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_GROWTH, MODULE_493
GO Biological Process (13): regulation of cell growth (GO:0001558), regulation of DNA replication (GO:0006275), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), protein ubiquitination (GO:0016567), regulation of cell cycle (GO:0051726), regulation of DNA biosynthetic process (GO:2000278), protein polyubiquitination (GO:0000209), chromatin remodeling (GO:0006338), regulation of neurogenesis (GO:0050767), positive regulation of neurogenesis (GO:0050769), protein autoubiquitination (GO:0051865), neuron projection extension (GO:1990138)
GO Molecular Function (9): zinc ion binding (GO:0008270), histone H4K5 acetyltransferase activity (GO:0043995), histone H4K8 acetyltransferase activity (GO:0043996), histone H4K12 acetyltransferase activity (GO:0043997), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), histone H3K14 acetyltransferase activity (GO:0036408), metal ion binding (GO:0046872)
GO Cellular Component (3): histone acetyltransferase complex (GO:0000123), nucleoplasm (GO:0005654), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Chromatin organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| histone H4 acetyltransferase activity | 3 |
| regulation of DNA metabolic process | 2 |
| protein ubiquitination | 2 |
| neurogenesis | 2 |
| cell growth | 1 |
| regulation of growth | 1 |
| regulation of cellular component organization | 1 |
| DNA replication | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| protein modification by small protein conjugation | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| DNA biosynthetic process | 1 |
| chromatin organization | 1 |
| regulation of nervous system development | 1 |
| regulation of cell development | 1 |
| positive regulation of cell development | 1 |
| regulation of neurogenesis | 1 |
| positive regulation of nervous system development | 1 |
| developmental cell growth | 1 |
| neuron projection morphogenesis | 1 |
| developmental growth involved in morphogenesis | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| histone H3 acetyltransferase activity | 1 |
| cation binding | 1 |
| chromatin | 1 |
| protein acetyltransferase complex | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
530 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JADE2 | SETD1A | O15047 | 719 |
| JADE2 | KAT7 | O95251 | 696 |
| JADE2 | MEAF6 | Q9HAF1 | 671 |
| JADE2 | ING4 | Q9UNL4 | 641 |
| JADE2 | CCDC198 | Q9NVL8 | 480 |
| JADE2 | JADE3 | Q92613 | 470 |
| JADE2 | PROB1 | E7EW31 | 469 |
| JADE2 | JADE1 | Q6IE81 | 468 |
| JADE2 | OR10G6 | Q8NH81 | 454 |
| JADE2 | USP28 | Q96RU2 | 449 |
| JADE2 | ING5 | Q8WYH8 | 438 |
| JADE2 | BRPF3 | Q9ULD4 | 428 |
| JADE2 | ING3 | Q9NXR8 | 427 |
| JADE2 | CEBPG | P53567 | 385 |
| JADE2 | WNT3A | P56704 | 383 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JADE2 | ING5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ING5 | JADE2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| JADE2 | ING4 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ING4 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| ING5 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB5 | JADE2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JADE2 | ZBTB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JADE2 | ZNF496 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JADE2 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| MEAF6 | KPNA5 | psi-mi:“MI:0914”(association) | 0.350 |
| ING5 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| JADE2 | KAT7 | psi-mi:“MI:0914”(association) | 0.350 |
| PACSIN1 | JADE2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| JADE2 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| JADE2 | pcm | psi-mi:“MI:0915”(physical association) | 0.000 |
| JADE2 | gpmI | psi-mi:“MI:0915”(physical association) | 0.000 |
| aer | JADE2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| JADE2 | pog | psi-mi:“MI:0915”(physical association) | 0.000 |
| TTC3 | JADE2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (103): GORASP2 (Two-hybrid), ING5 (Two-hybrid), MYO9A (Affinity Capture-MS), MEAF6 (Affinity Capture-MS), ING4 (Affinity Capture-MS), ING5 (Affinity Capture-MS), MYO5C (Affinity Capture-MS), ING3 (Affinity Capture-MS), PIK3R4 (Affinity Capture-MS), PIK3C3 (Affinity Capture-MS), CCDC88A (Affinity Capture-MS), CCDC93 (Affinity Capture-MS), KAT7 (Affinity Capture-MS), CCP110 (Affinity Capture-MS), C14orf80 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8F1M4, A0A8M9QN10, A0JMQ9, A6NIR3, A8DZE6, A8WH69, B2KF05, F1QCY8, O43147, O43900, O54880, P0C6P5, P59729, P97433, Q13009, Q18PD9, Q2NKQ1, Q32L09, Q3U5C7, Q58D79, Q5EB20, Q5PQS0, Q5U464, Q60592, Q6IVY4, Q6P0Q8, Q6ZQF7, Q6ZUJ8, Q71QF9, Q768S4, Q7T2V3, Q7TNN8, Q7TSI1, Q7ZVP1, Q803A0, Q80U12, Q80VL3, Q80Y24, Q8BPQ7, Q8BRB7
Diamond homologs: A0A286Y9D1, A1YVX4, A7E320, B2KF05, B2RRD7, B6CHA3, F4KBP5, F6UA42, G5E8P1, G5EBZ4, O54826, O75164, O94880, O94953, P0CB22, P29375, P34447, P41229, P41230, P47156, P55197, P55198, P55201, Q0P4S5, Q12311, Q20318, Q22516, Q29EQ3, Q30DN6, Q38JA7, Q3UXZ9, Q5E9T7, Q5RD88, Q5TKR9, Q62240, Q6GQJ2, Q6IE81, Q6IE82, Q6IQX0, Q6K431
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1768 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:134535916:G:GG | donor_gain | 1.0000 |
| 5:134537984:T:TA | acceptor_gain | 1.0000 |
| 5:134537985:GCAG:G | acceptor_loss | 1.0000 |
| 5:134537986:CAGGT:C | acceptor_loss | 1.0000 |
| 5:134537987:A:AG | acceptor_gain | 1.0000 |
| 5:134537987:AG:A | acceptor_gain | 1.0000 |
| 5:134537988:G:GT | acceptor_gain | 1.0000 |
| 5:134537988:GG:G | acceptor_gain | 1.0000 |
| 5:134537988:GGT:G | acceptor_gain | 1.0000 |
| 5:134537988:GGTC:G | acceptor_gain | 1.0000 |
| 5:134537988:GGTCA:G | acceptor_gain | 1.0000 |
| 5:134538081:GAG:G | donor_gain | 1.0000 |
| 5:134538081:GAGG:G | donor_loss | 1.0000 |
| 5:134538084:G:GG | donor_gain | 1.0000 |
| 5:134538084:G:T | donor_loss | 1.0000 |
| 5:134552048:ACAG:A | acceptor_gain | 1.0000 |
| 5:134552049:CA:C | acceptor_loss | 1.0000 |
| 5:134552050:A:AG | acceptor_gain | 1.0000 |
| 5:134552050:A:AT | acceptor_loss | 1.0000 |
| 5:134552050:AG:A | acceptor_gain | 1.0000 |
| 5:134552051:G:GT | acceptor_gain | 1.0000 |
| 5:134552051:GG:G | acceptor_gain | 1.0000 |
| 5:134552051:GGT:G | acceptor_gain | 1.0000 |
| 5:134552051:GGTT:G | acceptor_gain | 1.0000 |
| 5:134552051:GGTTT:G | acceptor_gain | 1.0000 |
| 5:134559825:TCTA:T | acceptor_loss | 1.0000 |
| 5:134559827:TA:T | acceptor_loss | 1.0000 |
| 5:134559828:A:AG | acceptor_gain | 1.0000 |
| 5:134559828:AG:A | acceptor_gain | 1.0000 |
| 5:134559829:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000021923 (5:134540696 T>A), RS1000100822 (5:134547117 A>G), RS1000102115 (5:134546716 C>T), RS1000154283 (5:134546951 T>C), RS1000179412 (5:134553454 T>C), RS1000182838 (5:134563298 A>G), RS1000224705 (5:134566752 A>G), RS1000299301 (5:134575357 G>C), RS1000347068 (5:134560081 A>G), RS1000433416 (5:134582348 G>A), RS1000449695 (5:134540830 G>A,C), RS1000558168 (5:134535880 A>C), RS1000696632 (5:134552968 G>A), RS1000844088 (5:134548365 C>A), RS1000909694 (5:134551969 T>A,C)
Disease associations
OMIM: gene MIM:610515 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
45 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_41 | Menarche (age at onset) | 2.000000e-10 |
| GCST002541_15 | Menarche (age at onset) | 3.000000e-20 |
| GCST003795_5 | Age at first birth | 4.000000e-08 |
| GCST003993_11 | Menarche (age at onset) | 4.000000e-08 |
| GCST004616_11 | Platelet distribution width | 6.000000e-22 |
| GCST004894_130 | Type 2 diabetes | 3.000000e-09 |
| GCST004894_55 | Type 2 diabetes | 6.000000e-06 |
| GCST004904_29 | Body mass index | 6.000000e-08 |
| GCST004904_54 | Body mass index | 4.000000e-08 |
| GCST005830_29 | Hand grip strength | 2.000000e-08 |
| GCST006045_7 | Age at first birth | 1.000000e-07 |
| GCST008103_44 | Bipolar disorder | 2.000000e-07 |
| GCST008362_222 | Birth weight | 8.000000e-11 |
| GCST008363_43 | Offspring birth weight | 3.000000e-17 |
| GCST008526_29 | Coffee consumption | 3.000000e-06 |
| GCST008550_2 | Mental health study participation (completed survey) | 9.000000e-09 |
| GCST008550_22 | Mental health study participation (completed survey) | 4.000000e-09 |
| GCST008550_3 | Mental health study participation (completed survey) | 2.000000e-08 |
| GCST008550_4 | Mental health study participation (completed survey) | 8.000000e-09 |
| GCST009379_44 | Type 2 diabetes | 4.000000e-09 |
| GCST009524_268 | Household income (MTAG) | 7.000000e-11 |
| GCST009597_121 | Multiple sclerosis | 2.000000e-13 |
| GCST010118_47 | Type 2 diabetes | 2.000000e-08 |
| GCST010702_165 | Subcortical volume (MOSTest) | 7.000000e-19 |
| GCST010703_215 | Brain morphology (MOSTest) | 3.000000e-11 |
| GCST010796_3576 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_3577 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-09 |
| GCST010796_3578 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_3579 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_3617 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
EFO canonical traits (16, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0009101 | age at first birth measurement |
| EFO:0007984 | platelet component distribution width |
| EFO:0004340 | body mass index |
| EFO:0006941 | grip strength measurement |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0010130 | health study participation |
| EFO:0009695 | household income |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004327 | electrocardiography |
| EFO:0004319 | smoking cessation |
| EFO:0005091 | monocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 4 |
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| trichostatin A | affects expression, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| monomethylarsonous acid | decreases expression, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| pentanal | decreases expression | 1 |
| 3-deazaneplanocin | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| scriptaid | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aldehydes | decreases expression | 1 |
| Arsenic | increases expression, affects cotreatment, decreases expression, increases abundance | 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.