ZYG11B
gene geneOn this page
Also known as FLJ13456
Summary
ZYG11B (zyg-11 family member B, cell cycle regulator, HGNC:25820) is a protein-coding gene on chromosome 1p32.3, encoding Protein zyg-11 homolog B (Q9C0D3). Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC.
Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process and protein quality control for misfolded or incompletely synthesized proteins. Part of Cul2-RING ubiquitin ligase complex.
Source: NCBI Gene 79699 — RefSeq curated summary.
At a glance
- Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 83 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_024646
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25820 |
| Approved symbol | ZYG11B |
| Name | zyg-11 family member B, cell cycle regulator |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13456 |
| Ensembl gene | ENSG00000162378 |
| Ensembl biotype | protein_coding |
| OMIM | 618673 |
| Entrez | 79699 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000294353, ENST00000545132, ENST00000884648, ENST00000884649, ENST00000884650, ENST00000959291, ENST00000959292, ENST00000959293
RefSeq mRNA: 1 — MANE Select: NM_024646
NM_024646
CCDS: CCDS30717
Canonical transcript exons
ENST00000294353 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001064564 | 52816532 | 52816629 |
| ENSE00001064565 | 52821439 | 52827336 |
| ENSE00001141604 | 52802092 | 52802139 |
| ENSE00001190651 | 52801819 | 52801980 |
| ENSE00001190654 | 52796734 | 52796784 |
| ENSE00001190659 | 52796292 | 52796391 |
| ENSE00001190664 | 52790003 | 52790067 |
| ENSE00001190667 | 52784877 | 52785053 |
| ENSE00001190670 | 52779853 | 52779993 |
| ENSE00001190674 | 52771020 | 52771774 |
| ENSE00001190680 | 52756458 | 52756623 |
| ENSE00001935167 | 52726453 | 52726683 |
| ENSE00003464514 | 52813860 | 52813912 |
| ENSE00003528356 | 52813536 | 52813733 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 99.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.7311 / max 206.8422, expressed in 1808 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2884 | 17.6189 | 1803 |
| 2885 | 3.8548 | 1461 |
| 2883 | 0.2573 | 108 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| deltoid | UBERON:0001476 | 99.13 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.96 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.79 | gold quality |
| biceps brachii | UBERON:0001507 | 98.61 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.56 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.44 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.38 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.87 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.84 | gold quality |
| myocardium | UBERON:0002349 | 97.78 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.77 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.07 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.91 | gold quality |
| body of tongue | UBERON:0011876 | 96.56 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.29 | gold quality |
| muscle tissue | UBERON:0002385 | 96.24 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.17 | gold quality |
| pons | UBERON:0000988 | 95.77 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.74 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.42 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.41 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.24 | gold quality |
| parietal lobe | UBERON:0001872 | 95.23 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.99 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.79 | gold quality |
| upper arm skin | UBERON:0004263 | 94.64 | gold quality |
| tongue | UBERON:0001723 | 94.58 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.46 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.42 | gold quality |
| skin of hip | UBERON:0001554 | 94.37 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
268 targeting ZYG11B, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| 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-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Literature-anchored findings (GeneRIF, showing 7)
- the ubiquitin ligase CRL2(ZYG-11) redundantly targets the degradation of cyclin B1 in Caenorhabditis elegans and human cells. (PMID:27810909)
- Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. (PMID:32738032)
- ORF10-Cullin-2-ZYG11B complex is not required for SARS-CoV-2 infection. (PMID:33827988)
- Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1). (PMID:34214466)
- Structural insights into ORF10 recognition by ZYG11B. (PMID:35636250)
- A close shave: How SARS-CoV-2 induces the loss of cilia. (PMID:35695891)
- LncRNA LINC01871 sponging miR-142-3p to modulate ZYG11B promotes the chemoresistance of colorectal cancer cells by inducing autophagy. (PMID:36847071)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zyg11 | ENSDARG00000007737 |
| danio_rerio | zyg11l | ENSDARG00000101799 |
| mus_musculus | Zyg11b | ENSMUSG00000034636 |
| rattus_norvegicus | Zyg11b | ENSRNOG00000010859 |
| caenorhabditis_elegans | WBGENE00006996 |
Paralogs (2): ZER1 (ENSG00000160445), ZYG11A (ENSG00000203995)
Protein
Protein identifiers
Protein zyg-11 homolog B — Q9C0D3 (reviewed: Q9C0D3)
All UniProt accessions (3): A8DPD7, Q9C0D3, B4DK95
UniProt curated annotations — full annotation on UniProt →
Function. Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts to target substrates bearing N-terminal degrons for proteasomal degradation with the first four residues of substrates being the key recognition elements. Prefers Nt-Gly but also has the capacity to recognize Nt-Ser, -Ala and -Cys. Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation. In addition, plays a role in the amplification of cGAS to enhance innate immune response. Mechanistically, strengthens the processes of cGAS binding with dsDNA and assembling oligomers and also accelerates and stabilizes cGAS-DNA condensation, thereby enhancing production of antiviral IFNs and inflammatory cytokines.
Subunit / interactions. (Microbial infection) Interacts with SARS-COV-2 protein ORF10. Interacts with ELOC/Elongin C. Part of an E3 ubiquitin ligase complex including ZYG11B, CUL2 and Elongin BC.
Subcellular location. Cytoplasm.
Post-translational modifications. (Microbial infection) Ubiquitinated; leading to proteasomal degradation in the presence of herpes simplex virus 1/HHV-1.
Similarity. Belongs to the zyg-11 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C0D3-1 | 1 | yes |
| Q9C0D3-2 | 2 |
RefSeq proteins (1): NP_078922* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR051341 | Zyg-11_UBL_adapter | Family |
| IPR055142 | ZER1-like_C | Domain |
| IPR056845 | LRR_Zer-1 | Domain |
Pfam: PF22964, PF25013
UniProt features (31 total): helix 17, mutagenesis site 6, repeat 3, turn 2, chain 1, sequence conflict 1, splice variant 1
Structure
Experimental structures (PDB)
14 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7EP1 | X-RAY DIFFRACTION | 1.85 |
| 7EP0 | X-RAY DIFFRACTION | 2.16 |
| 7EP2 | X-RAY DIFFRACTION | 2.38 |
| 7XYW | X-RAY DIFFRACTION | 2.5 |
| 7XYV | X-RAY DIFFRACTION | 2.52 |
| 7XV7 | X-RAY DIFFRACTION | 2.6 |
| 7XYX | X-RAY DIFFRACTION | 2.87 |
| 7YC2 | X-RAY DIFFRACTION | 2.9 |
| 9LK6 | ELECTRON MICROSCOPY | 3.27 |
| 9LK2 | ELECTRON MICROSCOPY | 3.37 |
| 9BIE | ELECTRON MICROSCOPY | 3.4 |
| 9BJ8 | ELECTRON MICROSCOPY | 3.78 |
| 9BID | ELECTRON MICROSCOPY | 3.99 |
| 9BJ9 | ELECTRON MICROSCOPY | 4.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C0D3-F1 | 92.35 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 570 | complete loss of n-degron binding. |
| 18 | abolishes interaction with eloc. |
| 522 | complete loss of n-degron binding. |
| 523 | complete loss of n-degron binding. |
| 526 | complete loss of n-degron binding. |
| 567 | complete loss of n-degron binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 198 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_POSITIVE_REGULATION_OF_PROTEOLYSIS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEOLYSIS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, GOBP_PROTEOLYSIS
GO Biological Process (2): protein quality control for misfolded or incompletely synthesized proteins (GO:0006515), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), Cul2-RING ubiquitin ligase complex (GO:0031462)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein catabolic process | 1 |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of proteasomal protein catabolic process | 1 |
| positive regulation of ubiquitin-dependent protein catabolic process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
670 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZYG11B | CUL2 | Q13617 | 832 |
| ZYG11B | ELOC | Q15369 | 711 |
| ZYG11B | RBX1 | P62877 | 696 |
| ZYG11B | LRR1 | Q96L50 | 695 |
| ZYG11B | ELOB | Q15370 | 677 |
| ZYG11B | ZER1 | Q7Z7L7 | 552 |
| ZYG11B | PAEP | P09466 | 432 |
| ZYG11B | SNX11 | Q9Y5W9 | 415 |
| ZYG11B | NMT1 | P30419 | 402 |
| ZYG11B | KLHDC2 | Q9Y2U9 | 391 |
| ZYG11B | UNC119 | Q13432 | 389 |
| ZYG11B | VHL | P40337 | 367 |
| ZYG11B | MEX3D | Q86XN8 | 349 |
| ZYG11B | CUL5 | Q93034 | 342 |
| ZYG11B | PLEKHM3 | Q6ZWE6 | 335 |
IntAct
161 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLG2 | POLG | psi-mi:“MI:0914”(association) | 0.950 |
| CUL2 | VHL | psi-mi:“MI:0914”(association) | 0.940 |
| VIM | NEFL | psi-mi:“MI:0914”(association) | 0.840 |
| MTDH | SND1 | psi-mi:“MI:0914”(association) | 0.840 |
| RGS20 | GLRX3 | psi-mi:“MI:0914”(association) | 0.810 |
| KIF22 | KPNA3 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ZYG11B | CUL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CDCA5 | RAD21 | psi-mi:“MI:0914”(association) | 0.640 |
| ORF10 | CUL2 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| GBF1 | ZYG11B | psi-mi:“MI:0915”(physical association) | 0.560 |
| OPTN | ZYG11B | psi-mi:“MI:0915”(physical association) | 0.560 |
| OS9 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| AP3S1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| MCAT | ALAS1 | psi-mi:“MI:0914”(association) | 0.530 |
| WFDC9 | CTSC | psi-mi:“MI:0914”(association) | 0.530 |
| ORF10 | PPT1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| GRK7 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLAIN1 | HSPA9 | psi-mi:“MI:0914”(association) | 0.530 |
| CLPSL1 | TNFAIP1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (157): ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS), ZYG11B (Affinity Capture-MS)
ESM2 similar proteins: A0A3L7I2I8, A0JMZ3, A5HK05, A7MB89, A7YWD2, O60733, O75031, O94829, O94955, P0C7A6, P42694, P49754, P97570, P97819, Q05AL1, Q1LVW0, Q29RM5, Q2KI54, Q2T9K6, Q3UFS0, Q3UJZ3, Q4V890, Q5KU39, Q5R6S3, Q5R974, Q5T9G4, Q5TYQ1, Q5VZK9, Q68FK4, Q6DFV5, Q6EDY6, Q6NYU2, Q6QI06, Q6R327, Q7T3P8, Q8C0T1, Q8CEF1, Q8IUR7, Q8NFZ0, Q91W86
Diamond homologs: A0JMZ3, A2BFL2, P21541, Q3UFS0, Q5RAG3, Q5TYQ1, Q6WRX3, Q7Z7L7, Q80ZJ6, Q9C0D3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 203 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 |
|---|---|---|---|
| Chaperone Mediated Autophagy | 6 | 23.8× | 1e-04 |
| Antigen Presentation: Folding, assembly and peptide loading of class I MHC | 5 | 15.8× | 4e-03 |
| Neddylation | 12 | 4.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 53 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1691311 | NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter) | Likely pathogenic |
SpliceAI
2274 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:52726689:G:GT | donor_gain | 1.0000 |
| 1:52756436:A:AG | acceptor_gain | 1.0000 |
| 1:52756437:T:G | acceptor_gain | 1.0000 |
| 1:52756438:A:AG | acceptor_gain | 1.0000 |
| 1:52756447:T:A | acceptor_gain | 1.0000 |
| 1:52756448:G:A | acceptor_gain | 1.0000 |
| 1:52756584:G:GT | donor_gain | 1.0000 |
| 1:52771016:ACAG:A | acceptor_loss | 1.0000 |
| 1:52771017:CAGGT:C | acceptor_loss | 1.0000 |
| 1:52771018:AGGTC:A | acceptor_loss | 1.0000 |
| 1:52771019:G:A | acceptor_loss | 1.0000 |
| 1:52779847:TCACA:T | acceptor_loss | 1.0000 |
| 1:52779848:CACA:C | acceptor_loss | 1.0000 |
| 1:52779850:CA:C | acceptor_loss | 1.0000 |
| 1:52779851:A:AC | acceptor_loss | 1.0000 |
| 1:52779852:GGT:G | acceptor_gain | 1.0000 |
| 1:52779989:TAAAG:T | donor_loss | 1.0000 |
| 1:52779990:AAAG:A | donor_loss | 1.0000 |
| 1:52779991:AAGGT:A | donor_loss | 1.0000 |
| 1:52779992:AGG:A | donor_loss | 1.0000 |
| 1:52779994:GT:G | donor_loss | 1.0000 |
| 1:52779995:T:G | donor_loss | 1.0000 |
| 1:52784873:CCA:C | acceptor_loss | 1.0000 |
| 1:52784874:CA:C | acceptor_loss | 1.0000 |
| 1:52784875:A:AG | acceptor_gain | 1.0000 |
| 1:52784876:G:GC | acceptor_gain | 1.0000 |
| 1:52784876:GC:G | acceptor_gain | 1.0000 |
| 1:52784876:GCTT:G | acceptor_gain | 1.0000 |
| 1:52785050:GCAG:G | donor_gain | 1.0000 |
| 1:52785051:CAGG:C | donor_loss | 1.0000 |
AlphaMissense
4920 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:52771647:G:A | G275E | 1.000 |
| 1:52771709:T:C | F296L | 1.000 |
| 1:52771711:T:A | F296L | 1.000 |
| 1:52771711:T:G | F296L | 1.000 |
| 1:52779860:G:A | G320E | 1.000 |
| 1:52779944:T:C | L348P | 1.000 |
| 1:52779946:T:C | F349L | 1.000 |
| 1:52779948:T:A | F349L | 1.000 |
| 1:52779948:T:G | F349L | 1.000 |
| 1:52784926:T:C | L381P | 1.000 |
| 1:52784929:C:A | A382D | 1.000 |
| 1:52784931:G:C | A383P | 1.000 |
| 1:52784934:A:C | S384R | 1.000 |
| 1:52784936:C:A | S384R | 1.000 |
| 1:52784936:C:G | S384R | 1.000 |
| 1:52784938:C:A | A385D | 1.000 |
| 1:52784940:T:C | C386R | 1.000 |
| 1:52784941:G:A | C386Y | 1.000 |
| 1:52784942:T:G | C386W | 1.000 |
| 1:52784946:T:C | F388L | 1.000 |
| 1:52784948:T:A | F388L | 1.000 |
| 1:52784948:T:G | F388L | 1.000 |
| 1:52784951:C:A | N389K | 1.000 |
| 1:52784951:C:G | N389K | 1.000 |
| 1:52790004:T:C | L424S | 1.000 |
| 1:52790009:A:G | K426E | 1.000 |
| 1:52790011:G:C | K426N | 1.000 |
| 1:52790011:G:T | K426N | 1.000 |
| 1:52790012:A:G | N427D | 1.000 |
| 1:52790013:A:C | N427T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000060559 (1:52779390 T>C), RS1000077170 (1:52824077 C>A,T), RS1000095681 (1:52816788 T>C), RS1000101320 (1:52727557 A>G), RS1000102763 (1:52813006 G>A,C), RS1000142476 (1:52730800 A>G), RS1000166375 (1:52803486 A>G,T), RS1000174065 (1:52730520 G>T), RS1000197254 (1:52774054 G>A), RS1000223216 (1:52810039 A>C,G), RS1000274462 (1:52730248 G>A,C), RS1000276962 (1:52809754 CTGA>C), RS1000310815 (1:52817221 T>G), RS1000336279 (1:52810995 T>C), RS1000360286 (1:52767239 T>G)
Disease associations
OMIM: gene MIM:618673 | disease phenotypes: MIM:164210
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| multiple congenital anomalies/dysmorphic syndrome | Limited | Autosomal dominant |
Mondo (2): craniofacial microsomia 1 (MONDO:0958175), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042)
Orphanet (1): Goldenhar syndrome (Orphanet:374)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002394_137 | Monocyte percentage of white cells | 2.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL6066862 (PROTEIN-PROTEIN INTERACTION), CHEMBL6193837 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 3 |
| bisphenol S | increases methylation, affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| salinomycin | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| tanespimycin | increases expression, affects cotreatment | 1 |
| 14-deoxy-11,12-didehydroandrographolide | increases expression | 1 |
| abrine | decreases expression | 1 |
| 5-(2,4-dihydroxy-5-isopropylphenyl)-4-(4-morpholin-4-ylmethylphenyl)isoxazole-3-carboxylic acid ethylamide | increases expression | 1 |
| STA 9090 | increases expression | 1 |
| VER 155008 | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression, affects cotreatment | 1 |
ChEMBL screening assays
12 unique, capped per target: 12 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5554710 | Binding | PROTAC (AATac) activity at ZYG11B/ZER1/EML4-ALK in human NCI-H3122 cells assessed as protein degradation upto 20 uM incubated for 72 hrs by immunoblot analysis | Distinct Amino Acid-Based PROTACs Target Oncogenic Kinases for Degradation in Non-Small Cell Lung Cancer (NSCLC). — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: multiple congenital anomalies/dysmorphic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): craniofacial microsomia 1, multiple congenital anomalies/dysmorphic syndrome