PAXBP1
gene geneOn this page
Also known as GCFCfSAP105
Summary
PAXBP1 (PAX3 and PAX7 binding protein 1, HGNC:13579) is a protein-coding gene on chromosome 21q22.11, encoding PAX3- and PAX7-binding protein 1 (Q9Y5B6). Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. It is a common-essential gene (DepMap: required in 97.2% of cancer cell lines).
Predicted to enable DNA binding activity and histone methyltransferase binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myoblast proliferation and regulation of skeletal muscle satellite cell proliferation. Located in cytosol.
Source: NCBI Gene 94104 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 131 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 97.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_016631
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13579 |
| Approved symbol | PAXBP1 |
| Name | PAX3 and PAX7 binding protein 1 |
| Location | 21q22.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GCFC, fSAP105 |
| Ensembl gene | ENSG00000159086 |
| Ensembl biotype | protein_coding |
| OMIM | 617621 |
| Entrez | 94104 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000290178, ENST00000331923, ENST00000421049, ENST00000443785, ENST00000445049, ENST00000464256, ENST00000466846, ENST00000472588, ENST00000497873, ENST00000962012, ENST00000962013, ENST00000962014
RefSeq mRNA: 2 — MANE Select: NM_016631
NM_013329, NM_016631
CCDS: CCDS13619, CCDS33541
Canonical transcript exons
ENST00000331923 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001043135 | 32755230 | 32755353 |
| ENSE00001418055 | 32771326 | 32771755 |
| ENSE00001888460 | 32733899 | 32735067 |
| ENSE00003475039 | 32762096 | 32762317 |
| ENSE00003479846 | 32751119 | 32751218 |
| ENSE00003485802 | 32738173 | 32738319 |
| ENSE00003491166 | 32743678 | 32743754 |
| ENSE00003514300 | 32748499 | 32748698 |
| ENSE00003531041 | 32745574 | 32745718 |
| ENSE00003564031 | 32744792 | 32744913 |
| ENSE00003576082 | 32759777 | 32759994 |
| ENSE00003586691 | 32769814 | 32769942 |
| ENSE00003600861 | 32759080 | 32759269 |
| ENSE00003613165 | 32743248 | 32743314 |
| ENSE00003619321 | 32761059 | 32761162 |
| ENSE00003659463 | 32750917 | 32751032 |
| ENSE00003689070 | 32764348 | 32764524 |
| ENSE00003693611 | 32737254 | 32737408 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 96.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.3487 / max 803.2397, expressed in 1812 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190210 | 25.6274 | 1802 |
| 190211 | 3.0017 | 1063 |
| 190209 | 1.2235 | 642 |
| 190212 | 1.0946 | 520 |
| 190208 | 0.2339 | 65 |
| 190213 | 0.1676 | 85 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.98 | gold quality |
| sperm | CL:0000019 | 95.12 | gold quality |
| right uterine tube | UBERON:0001302 | 94.47 | gold quality |
| left ovary | UBERON:0002119 | 94.30 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.99 | gold quality |
| tibia | UBERON:0000979 | 93.85 | gold quality |
| right ovary | UBERON:0002118 | 93.84 | gold quality |
| male germ cell | CL:0000015 | 93.15 | gold quality |
| ventricular zone | UBERON:0003053 | 93.04 | gold quality |
| corpus callosum | UBERON:0002336 | 92.76 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.52 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.45 | gold quality |
| ovary | UBERON:0000992 | 92.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.31 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.28 | gold quality |
| tibial nerve | UBERON:0001323 | 92.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.12 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.85 | gold quality |
| cerebellum | UBERON:0002037 | 91.72 | gold quality |
| embryo | UBERON:0000922 | 91.39 | gold quality |
| body of pancreas | UBERON:0001150 | 91.26 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.24 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.21 | gold quality |
| body of uterus | UBERON:0009853 | 91.18 | gold quality |
| visceral pleura | UBERON:0002401 | 91.12 | gold quality |
| endocervix | UBERON:0000458 | 91.06 | gold quality |
| duodenum | UBERON:0002114 | 90.94 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.93 | gold quality |
| pleura | UBERON:0000977 | 90.91 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting PAXBP1, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-934 | 98.49 | 70.44 | 581 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- The GCFC1/C21orf66 distal promoter contains an inhibitory cis-regulatory element that is responsive to Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
- A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia has been reported. (PMID:28542722)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | paxbp1 | ENSDARG00000062361 |
| mus_musculus | Paxbp1 | ENSMUSG00000022974 |
| rattus_norvegicus | Paxbp1 | ENSRNOG00000002036 |
| drosophila_melanogaster | CG1965 | FBGN0037466 |
| caenorhabditis_elegans | mog-7 | WBGENE00009672 |
Paralogs (1): GCFC2 (ENSG00000005436)
Protein
Protein identifiers
PAX3- and PAX7-binding protein 1 — Q9Y5B6 (reviewed: Q9Y5B6)
Alternative names: GC-rich sequence DNA-binding factor 1
All UniProt accessions (3): Q9Y5B6, H7BZC8, H7C2W4
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of ‘Lys-4’ of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20.
Subunit / interactions. Interacts with PAX3 and PAX7. Interacts with WDR5; associates with a histone methyltransferase (HMT) complex composed at least of RBBP5, ASH2L, SET1, SET2 and KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4 through direct interaction with WDR5.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Miscellaneous. Most abundantly expressed isoform, at mRNA level according to PubMed:11707072, despite the presence of a premature stop codon in the mRNA that may lead to nonsense-mediated mRNA decay.
Similarity. Belongs to the GCF family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y5B6-1 | 1, A | yes |
| Q9Y5B6-2 | 2, B | |
| Q9Y5B6-3 | 3, C | |
| Q9Y5B6-4 | 4, D |
RefSeq proteins (2): NP_037461, NP_057715* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012890 | GCFC2-like | Family |
| IPR022783 | GCFC_dom | Domain |
Pfam: PF07842
UniProt features (35 total): modified residue 10, compositionally biased region 9, region of interest 6, splice variant 5, cross-link 2, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8RO2 | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5B6-F1 | 72.59 | 0.40 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (12): 16, 154, 155, 158, 191, 262, 295, 557, 558, 563, 149, 149
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 262 (showing top):
GOBP_MUSCLE_CELL_PROLIFERATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_RNA_SPLICING, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BROWN_MYELOID_CELL_DEVELOPMENT_DN, GOBP_STRIATED_MUSCLE_CELL_PROLIFERATION, BASAKI_YBX1_TARGETS_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, MODULE_207, GTGACTT_MIR224, chr21q22, BURTON_ADIPOGENESIS_11, PARENT_MTOR_SIGNALING_DN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_2
GO Biological Process (6): mRNA splicing, via spliceosome (GO:0000398), transcription by RNA polymerase II (GO:0006366), muscle organ development (GO:0007517), regulation of skeletal muscle satellite cell proliferation (GO:0014842), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of myoblast proliferation (GO:2000288)
GO Molecular Function (2): DNA binding (GO:0003677), histone methyltransferase binding (GO:1990226)
GO Cellular Component (2): nucleus (GO:0005634), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| DNA-templated transcription | 1 |
| animal organ development | 1 |
| muscle structure development | 1 |
| skeletal muscle satellite cell proliferation | 1 |
| regulation of skeletal muscle cell proliferation | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| positive regulation of cell population proliferation | 1 |
| myoblast proliferation | 1 |
| regulation of myoblast proliferation | 1 |
| nucleic acid binding | 1 |
| enzyme binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
968 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PAXBP1 | SYNJ1 | O43426 | 550 |
| PAXBP1 | MAP6D1 | Q9H9H5 | 501 |
| PAXBP1 | PAX3 | P23760 | 499 |
| PAXBP1 | TMEM50B | P56557 | 492 |
| PAXBP1 | COMTD1 | Q86VU5 | 489 |
| PAXBP1 | TBATA | Q96M53 | 485 |
| PAXBP1 | DISP2 | A7MBM2 | 479 |
| PAXBP1 | DUS2 | Q9NX74 | 473 |
| PAXBP1 | EVA1C | P58658 | 471 |
| PAXBP1 | IL10RB | Q08334 | 464 |
| PAXBP1 | DOP1B | Q9Y3R5 | 463 |
| PAXBP1 | TMC4 | Q7Z404 | 461 |
| PAXBP1 | COPRS | Q9NQ92 | 460 |
| PAXBP1 | GET1 | O00258 | 442 |
| PAXBP1 | CAMK1G | Q96NX5 | 440 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSM3 | LSM1 | psi-mi:“MI:0914”(association) | 0.950 |
| SNRNP40 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.810 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| HDAC11 | CLUH | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| DDX23 | PRPF4 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| TFIP11 | DHX15 | psi-mi:“MI:0914”(association) | 0.600 |
| RSRC1 | JMJD6 | psi-mi:“MI:0914”(association) | 0.550 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPN | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA1143 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPF | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| EFTUD2 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP40 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| steC | SCD | psi-mi:“MI:0914”(association) | 0.460 |
| Prpf8 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Snw1 | DHX15 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (154): PAXBP1 (Affinity Capture-RNA), PAXBP1 (Affinity Capture-RNA), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Co-fractionation), PAXBP1 (Proximity Label-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS), PAXBP1 (Affinity Capture-MS)
ESM2 similar proteins: A2BDB7, A2CE83, B2ZX90, D3IUT5, E1BXS0, F4IDY7, P0DPK0, P49069, P58501, Q07532, Q0P4A6, Q1JQE2, Q28GJ0, Q28GL6, Q2KJD6, Q2MJV9, Q2TBJ0, Q2WG79, Q2WG80, Q5F3D1, Q5R789, Q5TID7, Q5U3I2, Q5ZHQ6, Q640U0, Q641E3, Q66H73, Q67W65, Q68F53, Q6AYN9, Q6DRL4, Q6NZY4, Q7TPE5, Q7Z2Z1, Q7ZX27, Q80YR7, Q80ZU5, Q86XK3, Q8BQ33, Q8C6C7
Diamond homologs: P16383, P58501, Q8BKT3, Q9Y5B6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 102 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 6 | 53.6× | 3e-08 |
| mRNA Splicing - Minor Pathway | 12 | 37.9× | 1e-14 |
| mRNA Splicing | 21 | 32.5× | 9e-25 |
| RNA Polymerase II Transcription Termination | 9 | 27.8× | 1e-09 |
| Processing of Capped Intron-Containing Pre-mRNA | 22 | 25.5× | 1e-23 |
| mRNA Splicing - Major Pathway | 33 | 25.4× | 2e-36 |
| SARS-CoV-2 modulates host translation machinery | 8 | 25.2× | 3e-08 |
| mRNA Polyadenylation | 19 | 23.5× | 1e-19 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 7 | 60.2× | 2e-09 |
| spliceosomal snRNP assembly | 9 | 58.8× | 4e-12 |
| RNA splicing, via transesterification reactions | 8 | 56.1× | 1e-10 |
| U2-type prespliceosome assembly | 8 | 56.1× | 1e-10 |
| spliceosomal complex assembly | 6 | 40.6× | 5e-07 |
| mRNA splicing, via spliceosome | 27 | 27.8× | 3e-29 |
| RNA splicing | 23 | 22.8× | 9e-23 |
| RNA processing | 7 | 17.2× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
131 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2532 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:32735067:CCT:C | acceptor_loss | 1.0000 |
| 21:32735068:CTA:C | acceptor_loss | 1.0000 |
| 21:32737249:ATTAC:A | donor_loss | 1.0000 |
| 21:32737250:TTA:T | donor_loss | 1.0000 |
| 21:32737252:ACC:A | donor_loss | 1.0000 |
| 21:32737253:C:A | donor_loss | 1.0000 |
| 21:32737405:TTAC:T | acceptor_gain | 1.0000 |
| 21:32737406:TACC:T | acceptor_loss | 1.0000 |
| 21:32737407:ACCT:A | acceptor_loss | 1.0000 |
| 21:32737408:CCT:C | acceptor_loss | 1.0000 |
| 21:32737409:C:CC | acceptor_gain | 1.0000 |
| 21:32737409:CTGTG:C | acceptor_loss | 1.0000 |
| 21:32737410:T:G | acceptor_loss | 1.0000 |
| 21:32738167:A:C | donor_gain | 1.0000 |
| 21:32738168:CTCAC:C | donor_loss | 1.0000 |
| 21:32738171:A:AC | donor_gain | 1.0000 |
| 21:32738172:C:CC | donor_gain | 1.0000 |
| 21:32738172:C:CT | donor_loss | 1.0000 |
| 21:32738172:CATT:C | donor_gain | 1.0000 |
| 21:32738317:CAG:C | acceptor_gain | 1.0000 |
| 21:32741504:A:AC | donor_gain | 1.0000 |
| 21:32741505:C:CC | donor_gain | 1.0000 |
| 21:32741526:AAGG:A | donor_gain | 1.0000 |
| 21:32743676:A:AC | donor_gain | 1.0000 |
| 21:32743677:C:CC | donor_gain | 1.0000 |
| 21:32744914:C:CC | acceptor_gain | 1.0000 |
| 21:32745664:C:CT | acceptor_gain | 1.0000 |
| 21:32745665:A:C | acceptor_gain | 1.0000 |
| 21:32745714:TTTGC:T | acceptor_gain | 1.0000 |
| 21:32745715:TTGC:T | acceptor_gain | 1.0000 |
AlphaMissense
6039 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:32738237:C:G | R806P | 1.000 |
| 21:32743270:C:G | R771P | 1.000 |
| 21:32744896:A:G | W696R | 1.000 |
| 21:32744896:A:T | W696R | 1.000 |
| 21:32745688:A:G | W652R | 1.000 |
| 21:32745688:A:T | W652R | 1.000 |
| 21:32748609:A:G | W605R | 1.000 |
| 21:32748609:A:T | W605R | 1.000 |
| 21:32750965:C:G | D559H | 1.000 |
| 21:32750966:A:C | S558R | 1.000 |
| 21:32750966:A:T | S558R | 1.000 |
| 21:32750968:T:G | S558R | 1.000 |
| 21:32750977:C:G | G555R | 1.000 |
| 21:32751011:T:A | R543S | 1.000 |
| 21:32751011:T:G | R543S | 1.000 |
| 21:32751012:C:G | R543T | 1.000 |
| 21:32751024:C:G | R539P | 1.000 |
| 21:32751025:G:T | R539S | 1.000 |
| 21:32751027:C:G | R538P | 1.000 |
| 21:32751032:C:A | R536S | 1.000 |
| 21:32751032:C:G | R536S | 1.000 |
| 21:32751119:C:A | R536M | 1.000 |
| 21:32751119:C:G | R536T | 1.000 |
| 21:32751121:C:A | R535S | 1.000 |
| 21:32751121:C:G | R535S | 1.000 |
| 21:32751122:C:A | R535M | 1.000 |
| 21:32751122:C:G | R535T | 1.000 |
| 21:32751126:C:G | A534P | 1.000 |
| 21:32751131:C:G | R532P | 1.000 |
| 21:32751144:G:T | R528S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000030411 (21:32753086 A>C), RS1000098758 (21:32773713 A>G), RS1000146210 (21:32752894 G>A,C,T), RS1000228634 (21:32759591 G>A,T), RS1000317533 (21:32761539 T>C), RS1000350212 (21:32766346 T>A,C), RS1000366071 (21:32734430 G>A,T), RS1000371663 (21:32761754 G>A), RS1000462200 (21:32772133 TCAGA>T), RS1000528448 (21:32748278 AAAC>A,AAACAAC), RS1000645752 (21:32771826 A>T), RS1000696363 (21:32741143 C>T), RS1000706878 (21:32746508 A>C), RS1000802342 (21:32761280 G>T), RS1000835890 (21:32740202 A>G)
Disease associations
OMIM: gene MIM:617621 | 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: yes
ChEMBL targets (1): CHEMBL5725180 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.44 | Kd | 36 | nM | MOLIBRESIB |
| 7.22 | IC50 | 60 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179132: Binding affinity against C21ORF66 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0360 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaldehyde | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzene | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Selenium | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Vitamin E | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Tungsten Compounds | increases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697188 | Binding | Inhibition of C21ORF66 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.