ZBED1
gene geneOn this page
Also known as TRAMPKIAA0785DREFhDREF
Summary
ZBED1 (zinc finger BED-type containing 1, HGNC:447) is a protein-coding gene on chromosome Xp22.33 and Yp11, encoding E3 SUMO-protein ligase ZBED1 (O96006). Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase which sumoylates CHD3/Mi2-alpha, causing its release from DNA.
This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5’ untranslated region have been found for this gene.
Source: NCBI Gene 9189 — RefSeq curated summary.
At a glance
- Transcription factor: yes — 22 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001171136
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:447 |
| Approved symbol | ZBED1 |
| Name | zinc finger BED-type containing 1 |
| Location | Xp22.33 and Yp11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAMP, KIAA0785, DREF, hDREF |
| Ensembl gene | ENSG00000214717 |
| Ensembl biotype | protein_coding |
| OMIM | 300178 |
| Entrez | 9189 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000381218, ENST00000381222, ENST00000381223, ENST00000461691, ENST00000515319, ENST00000652001, ENST00000864351, ENST00000864352, ENST00000864353, ENST00000934969, ENST00000934970
RefSeq mRNA: 3 — MANE Select: NM_001171136
NM_001171135, NM_001171136, NM_004729
CCDS: CCDS14118
Canonical transcript exons
ENST00000652001 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003847015 | 2486435 | 2490772 |
| ENSE00003850567 | 2500817 | 2500976 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 95.13.
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gluteal muscle | UBERON:0002000 | 95.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.38 | gold quality |
| muscle of leg | UBERON:0001383 | 92.78 | gold quality |
| muscle organ | UBERON:0001630 | 92.62 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.54 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.20 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.90 | gold quality |
| upper leg skin | UBERON:0004262 | 91.89 | gold quality |
| ventricular zone | UBERON:0003053 | 91.71 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.70 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.30 | gold quality |
| biceps brachii | UBERON:0001507 | 91.30 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.24 | gold quality |
| muscle tissue | UBERON:0002385 | 91.05 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.81 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.75 | silver quality |
| cardiac ventricle | UBERON:0002082 | 90.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.44 | gold quality |
| triceps brachii | UBERON:0001509 | 90.39 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.27 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.16 | gold quality |
| mammary duct | UBERON:0001765 | 90.09 | gold quality |
| apex of heart | UBERON:0002098 | 90.05 | gold quality |
| deltoid | UBERON:0001476 | 89.60 | silver quality |
| upper arm skin | UBERON:0004263 | 89.51 | gold quality |
| liver | UBERON:0002107 | 89.46 | gold quality |
| penis | UBERON:0000989 | 89.45 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.41 | gold quality |
| body of tongue | UBERON:0011876 | 89.37 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | no | 3.15 |
| E-ANND-3 | no | 0.45 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
22 targets.
| Target | Regulation |
|---|---|
| AKT1 | |
| AQP1 | |
| CAT | Unknown |
| EIF4A1 | Activation |
| EPHA5 | |
| GATA4 | Repression |
| H1-2 | |
| HEXIM1 | |
| HP | |
| LATS1 | |
| MT-ATP6 | |
| MYB | Unknown |
| PCNA | Activation |
| RAF1 | |
| RFC1 | |
| RHOH | |
| RPS10 | Activation |
| RPS12 | Activation |
| RPS6 | Activation |
| SSBP1 | Unknown |
| TBP | |
| ZBED1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0749.1 | ZBED1 | BED zinc finger factors |
| MA0749.2 | ZBED1 | BED zinc finger factors |
JASPAR matrix evidence (PMIDs): PMID:12663651
Upstream regulators (CollecTRI, top): ZBED1
miRNA regulators (miRDB)
40 targeting ZBED1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-455-3P | 98.94 | 67.68 | 878 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-6829-5P | 98.86 | 65.12 | 1480 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-5691 | 98.23 | 67.02 | 1335 |
| HSA-MIR-6805-3P | 98.23 | 67.02 | 1334 |
Literature-anchored findings (GeneRIF, showing 7)
- expression of hDREF/KIAA0785 may have a role in regulation of human genes related to cell proliferation (PMID:12663651)
- self-association of hDREF via the hATC domain is necessary for its nuclear accumulation and DNA binding. (PMID:17209048)
- hDREF is an important transcription factor for cell proliferation which plays roles in cell cycle-dependent regulation of a number of ribosomal protein genes (PMID:17220279)
- These findings identify DREF as a novel adenovirus E1A C terminus binding partner and provide evidence supporting a role for DREF in viral replication. (PMID:25210186)
- The pseudoautosomal region of human X and Y chromosome encoded ZBED1 protein was predicted to interact with at least 10 proteins encoded on the somatic chromosomes. (PMID:26279084)
- ZBED1 is not a cell proliferation-associated factor such as Drosophila DREF, and our study adds to the cumulative understanding of the functions of ZBED1 in human cells and tissues. (PMID:30304065)
- ZBED1 Regulates Genes Important for Multiple Biological Processes of the Placenta. (PMID:35052473)
Cross-species orthologs
0 orthologs
Paralogs (2): ZBED4 (ENSG00000100426), ZBED6 (ENSG00000257315)
Protein
Protein identifiers
E3 SUMO-protein ligase ZBED1 — O96006 (reviewed: O96006)
Alternative names: DNA replication-related element-binding factor, Putative Ac-like transposable element, Zinc finger BED domain-containing protein 1, dREF homolog
All UniProt accessions (2): C9JXP4, O96006
UniProt curated annotations — full annotation on UniProt →
Function. Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase which sumoylates CHD3/Mi2-alpha, causing its release from DNA. This results in suppression of CHD3/Mi2-alpha transcription repression, increased recruitment of RNA polymerase II to gene promoters and positive regulation of transcription including H1-5 and ribosomal proteins such as: RPS6, RPL10A, and RPL12. The resulting increased transcriptional activity drives cell proliferation. Binds to 5’-TGTCG[CT]GA[CT]A-3’ consensus sequences in gene promoters of ribosomal proteins. (Microbial infection) Binds to human adenovirus gene promoters and contributes to transcriptional repression and virus growth inhibition during early stages of infection.
Subunit / interactions. Homodimer and homomultimer. Homodimerization is necessary for protein nuclear localization and DNA binding. Interacts with KPNB1; required for nuclear import of ZBED1/hDREF. Interacts with CHD3/Mi2-alpha. Interacts with SUMO1. Interacts with UBE2I/UBC9. (Microbial infection) Interacts (via C-terminus) with human adenovirus early E1A protein (via C-terminus); the interaction is direct.
Subcellular location. Nucleus. PML body. Nucleus Nucleus.
Tissue specificity. Ubiquitously expressed at low levels. Expression is highest in skeletal muscle, heart, spleen and placenta.
Post-translational modifications. Autosumoylated with SUMO1, SUMO2, and SUMO3.
Induction. Expression is linked to the cell cycle: low in serum-starved fibroblasts, increasing during the G1/S phase, highest during the S/G2 phase and then decreasing again.
Pathway. Protein modification; protein sumoylation.
Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
RefSeq proteins (3): NP_001164606, NP_001164607, NP_004720 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003656 | Znf_BED | Domain |
| IPR008906 | HATC_C_dom | Domain |
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR052717 | Vacuolar_transposase_reg | Family |
Pfam: PF02892, PF05699
UniProt features (32 total): mutagenesis site 14, binding site 4, region of interest 4, helix 3, strand 2, chain 1, zinc finger region 1, sequence conflict 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CT5 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O96006-F1 | 83.28 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 71; 47; 50; 66
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 47 | abolishes autosumoylation. |
| 50 | abolishes autosumoylation. |
| 71 | abolishes autosumoylation. |
| 360 | abolishes interaction with sumo1. |
| 401 | abolishes interaction with sumo1. |
| 530–531 | abolishes nuclear localization, however has no effect on homodimerization; when associated with a-534. |
| 534 | abolishes nuclear localization, however has no effect on homodimerization; when associated with a-530-a-a-531. |
| 590–591 | abolishes homodimerization, multimerization, interaction with kpnb1, nuclear localization and dna binding activity. abol |
| 599 | no effect on homodimerization or nuclear localization. |
| 600–601 | abolishes homodimerization and nuclear localization. abolishes homodimerization, multimerization, nuclear localization, |
| 604–605 | reduces homodimerization and nuclear localization. abolishes homodimerization, multimerization, nuclear localization, an |
| 619–620 | no effect on homodimerization or nuclear localization. |
| 622 | no effect on homodimerization or nuclear localization. |
| 633 | no effect on homodimerization or nuclear localization. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-4551638 | SUMOylation of chromatin organization proteins |
MSigDB gene sets: 123 (showing top):
GCM_GSPT1, MORF_SNRP70, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, GOBP_PEPTIDYL_LYSINE_MODIFICATION, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_PROTEIN_SUMOYLATION, GOBP_VIRAL_GENOME_REPLICATION, GOBP_VIRAL_LIFE_CYCLE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MORF_PML, GCM_NF2, MORF_PDPK1, MORF_IKBKG
GO Biological Process (6): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), protein sumoylation (GO:0016925), host-mediated suppression of viral genome replication (GO:0044828), positive regulation of transcription by RNA polymerase II (GO:0045944), protein autosumoylation (GO:1990466)
GO Molecular Function (16): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), SUMO transferase activity (GO:0019789), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), protein dimerization activity (GO:0046983), SUMO ligase activity (GO:0061665), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), centrosome (GO:0005813), PML body (GO:0016605), nuclear membrane (GO:0031965)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SUMO E3 ligases SUMOylate target proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| positive regulation of DNA-templated transcription | 2 |
| protein binding | 2 |
| cellular anatomical structure | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| peptidyl-lysine modification | 1 |
| protein modification by small protein conjugation | 1 |
| viral genome replication | 1 |
| host-mediated perturbation of viral process | 1 |
| protein sumoylation | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription regulator activity | 1 |
| transcription coregulator activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-like protein transferase activity | 1 |
| DNA binding | 1 |
| SUMO transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| nuclear body | 1 |
Protein interactions and networks
STRING
1000 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZBED1 | KPNB1 | Q14974 | 761 |
| ZBED1 | H1-0 | P07305 | 708 |
| ZBED1 | DHRSX | Q8N5I4 | 667 |
| ZBED1 | ASMTL | O95671 | 667 |
| ZBED1 | SMARCA1 | P28370 | 624 |
| ZBED1 | SMARCA5 | O60264 | 612 |
| ZBED1 | AKAP17A | Q02040 | 603 |
| ZBED1 | PLCXD1 | Q9NUJ7 | 595 |
| ZBED1 | GTPBP6 | O43824 | 582 |
| ZBED1 | TBPL1 | P62380 | 539 |
| ZBED1 | ASMT | P46597 | 483 |
| ZBED1 | SHOX | O15266 | 480 |
| ZBED1 | SPRY3 | O43610 | 458 |
| ZBED1 | GTF3C1 | Q12789 | 446 |
| ZBED1 | VAMP7 | P51809 | 433 |
IntAct
203 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AIRIM | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZBED1 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.780 |
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| ZBED1 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.720 |
| LRRC20 | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBED1 | LRRC20 | psi-mi:“MI:0915”(physical association) | 0.720 |
| EFHC1 | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBED1 | EFHC1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBED1 | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KDM1A | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBED1 | PSAP | psi-mi:“MI:0915”(physical association) | 0.670 |
| PRKAR1A | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| ZNF576 | ZBED1 | psi-mi:“MI:0914”(association) | 0.640 |
| DHRSX | ZBED1 | psi-mi:“MI:0915”(physical association) | 0.590 |
BioGRID (148): ZBED1 (Two-hybrid), ZBED1 (Two-hybrid), ZBED1 (Two-hybrid), ZBED1 (Two-hybrid), ZBED1 (Two-hybrid), UCHL5 (Two-hybrid), AMOTL2 (Two-hybrid), C1orf109 (Two-hybrid), LRRC20 (Two-hybrid), KLHL40 (Two-hybrid), ZBED1 (Reconstituted Complex), ZBED1 (Affinity Capture-MS), ZBED1 (Affinity Capture-MS), ZBED1 (Affinity Capture-MS), SPEF1 (Two-hybrid)
ESM2 similar proteins: A4IFA3, A4Z943, A4Z944, A4Z945, B2RRL2, D3Z4R1, F1NQJ3, O43422, O60108, O60290, O96006, P08770, P0CF97, P12258, P16320, P34601, Q09772, Q0VBL1, Q17RP2, Q3EBC8, Q3YK19, Q49AG3, Q4R6P1, Q4W5G0, Q5SVZ6, Q5SXJ3, Q6EKJ0, Q6NT04, Q6R2W3, Q7L775, Q7M3K2, Q86UP8, Q8BUZ3, Q8IY51, Q8IZ13, Q8TBB0, Q8TCP9, Q8TDG4, Q8VEH5, Q95M72
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZBED1 | “up-regulates quantity by expression” | RPS6 | “transcriptional regulation” |
| ZBED1 | “up-regulates quantity by expression” | RPS10 | “transcriptional regulation” |
| ZBED1 | “up-regulates quantity by expression” | RPS12 | “transcriptional regulation” |
| ATRX | “up-regulates activity” | ZBED1 | binding |
| ZBED1 | “down-regulates quantity by repression” | GATA4 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
355 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:2500812:CTGA:C | donor_loss | 1.0000 |
| X:2500813:TGACC:T | donor_loss | 1.0000 |
| X:2500814:GACC:G | donor_loss | 1.0000 |
| X:2500816:C:A | donor_loss | 1.0000 |
| X:2500816:CC:C | donor_loss | 1.0000 |
| X:2500811:GCTGA:G | donor_loss | 0.9900 |
| X:2500816:CCTGG:C | donor_gain | 0.9900 |
| X:2498616:A:T | acceptor_gain | 0.9700 |
| X:2500309:AC:A | donor_gain | 0.9400 |
| X:2500310:CC:C | donor_gain | 0.9400 |
| X:2494460:A:AC | donor_gain | 0.9200 |
| X:2500815:A:AC | donor_gain | 0.9200 |
| X:2500816:C:CC | donor_gain | 0.9200 |
| X:2488732:T:TA | donor_gain | 0.8900 |
| X:2498615:CAG:C | acceptor_gain | 0.8600 |
| X:2488629:T:TA | donor_gain | 0.8500 |
| X:2500305:ACTT:A | donor_loss | 0.8500 |
| X:2500307:TTACC:T | donor_loss | 0.8500 |
| X:2500308:T:TG | donor_loss | 0.8500 |
| X:2500310:C:CG | donor_loss | 0.8500 |
| X:2486712:T:TA | donor_gain | 0.8400 |
| X:2490773:C:CC | acceptor_gain | 0.8400 |
| X:2500306:CTT:C | donor_loss | 0.8400 |
| X:2500308:T:TA | donor_loss | 0.8400 |
| X:2500309:A:AG | donor_loss | 0.8400 |
| X:2500310:C:CT | donor_loss | 0.8400 |
| X:2486819:T:TA | donor_gain | 0.8300 |
| X:2500304:CACT:C | donor_loss | 0.8200 |
| X:2500309:A:AC | donor_gain | 0.8200 |
| X:2500310:C:CC | donor_gain | 0.8200 |
AlphaMissense
4575 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:2490507:G:C | H71Q | 1.000 |
| Y:2490507:G:T | H71Q | 1.000 |
| Y:2490509:G:C | H71D | 1.000 |
| Y:2490520:A:G | L67P | 1.000 |
| Y:2490520:A:T | L67Q | 1.000 |
| Y:2490522:G:C | H66Q | 1.000 |
| Y:2490522:G:T | H66Q | 1.000 |
| Y:2490523:T:C | H66R | 1.000 |
| Y:2490524:G:C | H66D | 1.000 |
| Y:2490524:G:T | H66N | 1.000 |
| Y:2490532:A:G | L63P | 1.000 |
| Y:2490532:A:T | L63Q | 1.000 |
| Y:2490534:G:C | N62K | 1.000 |
| Y:2490534:G:T | N62K | 1.000 |
| Y:2490536:T:C | N62D | 1.000 |
| Y:2490538:G:A | S61F | 1.000 |
| Y:2490539:A:G | S61P | 1.000 |
| Y:2490541:G:A | T60I | 1.000 |
| Y:2490543:G:C | N59K | 1.000 |
| Y:2490543:G:T | N59K | 1.000 |
| Y:2490545:T:C | N59D | 1.000 |
| Y:2490547:C:A | G58V | 1.000 |
| Y:2490547:C:T | G58E | 1.000 |
| Y:2490554:A:C | Y56D | 1.000 |
| Y:2490554:A:G | Y56H | 1.000 |
| Y:2490570:G:C | C50W | 1.000 |
| Y:2490571:C:T | C50Y | 1.000 |
| Y:2490572:A:G | C50R | 1.000 |
| Y:2490579:G:C | C47W | 1.000 |
| Y:2490580:C:G | C47S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000171547 (X:2486377 G>A), RS1000418630 (X:2496303 A>C), RS1000781781 (X:2487317 T>C), RS1000806578 (X:2492765 G>A), RS1000838211 (X:2492506 A>G), RS1001020743 (X:2497996 C>G,T), RS1001066128 (X:2487468 G>A,C), RS1001312990 (X:2491998 A>C), RS1001389540 (X:2498384 C>A,T), RS1002183569 (X:2487699 C>T), RS1002346070 (X:2498967 TA>T,TAA), RS1002363911 (X:2492862 G>A), RS1002444502 (X:2498713 A>G), RS1002739394 (X:2492989 C>T), RS1003380341 (X:2500031 T>A)
Disease associations
OMIM: gene MIM:300178 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, affects cotreatment, decreases expression, increases abundance, increases oxidation | 2 |
| Ozone | affects cotreatment, decreases expression, increases oxidation, increases abundance, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| titanium dioxide | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| diallyl trisulfide | decreases expression | 1 |
| pterostilbene | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| Adenine | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Colchicine | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Etoposide | decreases expression | 1 |
| Hydroxyurea | decreases expression | 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.