CENPB
gene geneOn this page
Summary
CENPB (centromere protein B, HGNC:1852) is a protein-coding gene on chromosome 20p13, encoding Major centromere autoantigen B (P07199). Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box.
This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies.
Source: NCBI Gene 1059 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_001810
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1852 |
| Approved symbol | CENPB |
| Name | centromere protein B |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000125817 |
| Ensembl biotype | protein_coding |
| OMIM | 117140 |
| Entrez | 1059 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000379751
RefSeq mRNA: 1 — MANE Select: NM_001810
NM_001810
CCDS: CCDS13064
Canonical transcript exons
ENST00000379751 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001482363 | 3783851 | 3786740 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 97.84.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.7529 / max 433.1438, expressed in 1819 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186172 | 53.2324 | 1819 |
| 186171 | 0.5205 | 275 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.84 | gold quality |
| spinal cord | UBERON:0002240 | 97.03 | gold quality |
| amygdala | UBERON:0001876 | 95.72 | gold quality |
| apex of heart | UBERON:0002098 | 95.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.86 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.85 | gold quality |
| lower esophagus | UBERON:0013473 | 94.82 | gold quality |
| putamen | UBERON:0001874 | 94.71 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.56 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.33 | gold quality |
| muscle of leg | UBERON:0001383 | 94.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.15 | gold quality |
| nipple | UBERON:0002030 | 94.11 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.02 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.96 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.60 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.44 | gold quality |
| right coronary artery | UBERON:0001625 | 93.02 | gold quality |
| hypothalamus | UBERON:0001898 | 93.00 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.87 | gold quality |
| endometrium epithelium | UBERON:0004811 | 92.87 | gold quality |
| skin of leg | UBERON:0001511 | 92.81 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.52 | gold quality |
| popliteal artery | UBERON:0002250 | 92.36 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.36 | gold quality |
| tibial artery | UBERON:0007610 | 92.36 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.32 | gold quality |
| granulocyte | CL:0000094 | 92.26 | gold quality |
| monocyte | CL:0000576 | 92.26 | gold quality |
| aorta | UBERON:0000947 | 92.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.58 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXM1
miRNA regulators (miRDB)
28 targeting CENPB, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-4690-5P | 99.65 | 66.24 | 813 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-4536-5P | 98.47 | 64.39 | 657 |
| HSA-MIR-10526-3P | 97.86 | 64.97 | 1342 |
| HSA-MIR-6895-5P | 97.05 | 64.96 | 522 |
| HSA-MIR-3918 | 96.13 | 64.65 | 1300 |
Literature-anchored findings (GeneRIF, showing 30)
- CENP-A, -B, and -C chromatin complex that contains the I-type alpha-satellite array constitutes the prekinetochore in HeLa cells (PMID:11884609)
- crystal structure of its dimerization domain (CENP-B-(540-599)), another functional domain of CENP-B, at 1.65-A resolution (PMID:14522975)
- the interaction between CENP-B and CENP-C may be involved in the correct assembly of CENP-C on alphoid DNA (PMID:14612452)
- CENP-B for the CENP-B box DNA is reduced nearly to the level of nonspecific DNA binding by CpG methylation (PMID:15634350)
- CENP-B may be a determinant for translational positioning of the centromere-specific nucleosomes through its binding to the nucleosomal CENP-B box (PMID:16183641)
- This study shows that ICP0 induces the proteasomal-dependent degradation of the centromeric protein CENP-B in infected as well as ICP0-expressing cells. (PMID:17258208)
- CENP-B was found to bind specifically to the surface of human pulmonary artery smooth muscle cells and not to fibroblasts or endothelial cells (PMID:17968937)
- observation of FRET between CENP-A and CENP-B at centromere locations; this indicates that these proteins are in the molecular vicinity (<10 nm) of each other (PMID:18072184)
- Acceptor-bleaching FRET indicates that CENP-T directly associates with CENP-A and CENP-B. (PMID:19412974)
- CENP-B binding stimulated the cross-talk between CCR3 and epidermal growth factor receptor (EGFR) in human pulmonary artery smooth muscle cells. (PMID:19714638)
- Study analyzed the distribution of PARP-1 and its interaction with CENP-B, -E, and -F during mitosis and apoptosis. (PMID:19723035)
- Anti-CENP-B autoantibodies in breast cancer patients prolong disease-free and overall survival. (PMID:20222802)
- CENP-A and/or B status is predictive of the extent of skin involvement over time in systemic sclerosis. (PMID:22467948)
- Human Nap1, an acidic histone chaperone, inhibited the non-specific binding of CENP-B to nucleosomes and apparently stimulated CENP-B binding to its cognate CENP-B box DNA. (PMID:23325853)
- N-terminal methylation is required for CENP-B’s binding to the CENP-B box. (PMID:23978223)
- INMAP as a model regulator of CENP-B (PMID:24633075)
- Centromere protein B (CENP-B) as a novel interacting partner of HBZ. (PMID:25281565)
- The results revealed that CENP-B binding in the vicinity of the CENP-A nucleosome substantially stabilizes the CENP-A nucleosome on alphoid DNA in human cells. (PMID:25916850)
- CENP-B directly binds both CENP-A’s amino-terminal tail and CENP-C, a key nucleator of kinetochore assembly (PMID:25942623)
- Findings indicate that expression of the scleroderma autoantigens IFI-16 and CENPs, which are associated with severe vascular disease, is increased in vascular progenitors and mature endothelial cells. High level, lineage-enriched expression of autoantigens may explain the striking association between clinical phenotypes and the immune targeting of specific autoantigens. (PMID:27159521)
- Upon cross-linking, the entire CENPA/CENPB/CENPC/CENPT complex is nuclease-protected over an alpha-satellite dimer that comprises the fundamental unit of centromeric chromatin. We conclude that CENPA/CENPC and CENPT pathways for kinetochore assembly are physically integrated over young alpha-satellite dimers. (PMID:27384170)
- The results indicated that CENPB boxes are highly conserved in Down syndrome (DS) patients and may not be responsible for Chr21 nondisjunction events. However, alphasatDNA in Chr21 is variable and deoxynucleotide deletions, mutations and polymorphisms may act as potential molecular diagnostic markers of DS. (PMID:28259924)
- Given that CENP-B is the only centromere protein that binds centromere-specific DNA elements, our study provides a new link between centromere DNA and unique epigenetic landscape of centromere chromatin (PMID:29273057)
- Proteomics characterization of CENP-B epitope in Moroccan scleroderma patients with anti-centromere autoantibodies. (PMID:32057908)
- From evolution to function: Two sides of the same CENP-B coin? (PMID:32173469)
- A genetic memory initiates the epigenetic loop necessary to preserve centromere position. (PMID:32945564)
- The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity? (PMID:33065112)
- Centromeric transcription maintains centromeric cohesion in human cells. (PMID:33881484)
- LINC01123 potentially correlates with radioresistance in glioma through the miR-151a/CENPB axis. (PMID:34519373)
- CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA. (PMID:34547289)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cenpb | ENSMUSG00000068267 |
| rattus_norvegicus | Cenpb | ENSRNOG00000057284 |
Paralogs (12): TIGD7 (ENSG00000140993), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), JRKL (ENSG00000183340), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)
Protein
Protein identifiers
Major centromere autoantigen B — P07199 (reviewed: P07199)
Alternative names: Centromere protein B
All UniProt accessions (1): P07199
UniProt curated annotations — full annotation on UniProt →
Function. Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box. May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes.
Subunit / interactions. Antiparallel homodimer. Interacts with CENPT. Identified in a centromere complex containing histones H2A, H2B and H4, and at least CENPA, CENPB, CENPC, CENPT, CENPN, HJURP, SUPT16H, SSRP1 and RSF1.
Subcellular location. Nucleus. Chromosome. Centromere.
Post-translational modifications. Poly-ADP-ribosylated by PARP1. N-terminally methylated by METTL11A/NTM1. Alpha-N-methylation is stimulated in response to extracellular stimuli, including increased cell density and heat shock, and seems to facilitate binding to CENP-B boxes. Chromatin-bound CENP-B is primarily trimethylated.
RefSeq proteins (1): NP_001801* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004875 | DDE_SF_endonuclease_dom | Domain |
| IPR006600 | HTH_CenpB_DNA-bd_dom | Domain |
| IPR007889 | HTH_Psq | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR015115 | CenpB_C | Domain |
| IPR034882 | Dimerisation_CENP-B_sf | Homologous_superfamily |
| IPR050863 | CenT-Element_Derived | Family |
Pfam: PF03184, PF03221, PF04218, PF09026
UniProt features (37 total): helix 11, modified residue 7, region of interest 4, compositionally biased region 3, domain 2, sequence conflict 2, strand 2, DNA-binding region 2, initiator methionine 1, chain 1, cross-link 1, mutagenesis site 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1UFI | X-RAY DIFFRACTION | 1.65 |
| 6KDR | X-RAY DIFFRACTION | 2.11 |
| 1HLV | X-RAY DIFFRACTION | 2.5 |
| 1BW6 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07199-F1 | 66.88 | 0.20 |
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 (8): 2, 2, 2, 156, 165, 396, 398, 246
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 4 | abolishes n-terminal methylation. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
MORF_MTA1, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, AAGCCAT_MIR135A_MIR135B, RIZ_ERYTHROID_DIFFERENTIATION_CCNE1, MARTINEZ_RB1_TARGETS_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MORF_ATOX1, BLALOCK_ALZHEIMERS_DISEASE_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, AP2GAMMA_01, RIZ_ERYTHROID_DIFFERENTIATION, GOMF_CHROMATIN_BINDING, GOCC_CHROMOSOMAL_REGION, GOCC_NUCLEAR_BODY
GO Biological Process (0):
GO Molecular Function (7): DNA binding (GO:0003677), chromatin binding (GO:0003682), satellite DNA binding (GO:0003696), centromeric DNA binding (GO:0019237), sequence-specific DNA binding (GO:0043565), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (7): chromosome, centromeric region (GO:0000775), condensed chromosome, centromeric region (GO:0000779), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), pericentric heterochromatin (GO:0005721), nuclear body (GO:0016604)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 3 |
| sequence-specific double-stranded DNA binding | 2 |
| chromosome, centromeric region | 2 |
| intracellular membraneless organelle | 2 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| chromosomal region | 1 |
| condensed chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| heterochromatin | 1 |
| nucleoplasm | 1 |
Protein interactions and networks
STRING
1218 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CENPB | CENPC | Q03188 | 993 |
| CENPB | CENPA | P49450 | 990 |
| CENPB | CENPS | Q8N2Z9 | 973 |
| CENPB | CENPH | Q9H3R5 | 931 |
| CENPB | CENPE | Q02224 | 901 |
| CENPB | CENPI | Q92674 | 885 |
| CENPB | TRIM21 | P19474 | 815 |
| CENPB | CENPW | Q5EE01 | 812 |
| CENPB | CENPF | P49454 | 810 |
| CENPB | RO60 | P10155 | 805 |
| CENPB | INCENP | Q9NQS7 | 786 |
| CENPB | EXOSC10 | Q01780 | 774 |
| CENPB | PARP2 | Q9UGN5 | 765 |
| CENPB | CENPN | Q96H22 | 759 |
| CENPB | KIF2C | Q99661 | 734 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| CENPB | CSNK2B | psi-mi:“MI:0915”(physical association) | 0.660 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| PES1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| TSPYL6 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF544 | GNPAT | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF223 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF354C | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| KNOP1 | DHX15 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF816 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF669 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF214 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF517 | GGPS1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF311 | CENPB | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF354C | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (153): CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Two-hybrid), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS), CENPB (Affinity Capture-MS)
ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96
Diamond homologs: P07199, P27790, P48988, P49451, Q17RP2, Q4W5G0, Q6B0B8, Q8IY51, Q8BUZ3, Q6NT04, Q7TM95
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:3784687:G:C | donor_gain | 0.9700 |
| 20:3784734:T:TA | donor_gain | 0.9500 |
| 20:3784719:G:A | donor_gain | 0.9200 |
| 20:3784712:C:CA | donor_gain | 0.8300 |
| 20:3785681:C:CT | donor_gain | 0.8100 |
| 20:3784686:AG:A | donor_gain | 0.8000 |
| 20:3784686:A:AC | donor_gain | 0.7900 |
| 20:3784509:G:T | donor_gain | 0.7600 |
| 20:3784883:T:TA | donor_gain | 0.7500 |
| 20:3785682:C:CT | donor_gain | 0.7500 |
| 20:3785502:C:A | donor_gain | 0.7100 |
| 20:3784869:CCTCA:C | donor_gain | 0.7000 |
| 20:3784969:TTCCA:T | acceptor_gain | 0.6800 |
| 20:3785246:T:TA | donor_gain | 0.6800 |
| 20:3784880:T:TA | donor_gain | 0.6700 |
| 20:3784569:A:AC | donor_gain | 0.6600 |
| 20:3784570:C:CC | donor_gain | 0.6600 |
| 20:3785231:T:TA | donor_gain | 0.6500 |
| 20:3784873:A:AC | donor_gain | 0.6400 |
| 20:3785501:C:CA | donor_gain | 0.6400 |
| 20:3784871:TCATC:T | donor_gain | 0.6200 |
| 20:3784566:A:AC | donor_gain | 0.6100 |
| 20:3784818:TCTTG:T | donor_gain | 0.6100 |
| 20:3785218:T:A | donor_gain | 0.6000 |
| 20:3784863:CAG:C | donor_gain | 0.5900 |
| 20:3785201:T:TA | donor_gain | 0.5900 |
| 20:3784745:TGA:T | donor_gain | 0.5800 |
| 20:3785222:TC:T | donor_gain | 0.5800 |
| 20:3785213:T:TA | donor_gain | 0.5700 |
| 20:3785684:C:A | donor_gain | 0.5700 |
AlphaMissense
3890 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:3786107:A:G | F126S | 1.000 |
| 20:3786118:C:A | W122C | 1.000 |
| 20:3786118:C:G | W122C | 1.000 |
| 20:3786120:A:G | W122R | 1.000 |
| 20:3786120:A:T | W122R | 1.000 |
| 20:3786122:C:T | G121D | 1.000 |
| 20:3786128:G:A | S119F | 1.000 |
| 20:3786136:G:C | F116L | 1.000 |
| 20:3786136:G:T | F116L | 1.000 |
| 20:3786137:A:G | F116S | 1.000 |
| 20:3786138:A:G | F116L | 1.000 |
| 20:3786242:A:G | L81P | 1.000 |
| 20:3786251:T:A | E78V | 1.000 |
| 20:3786347:A:G | L46P | 1.000 |
| 20:3786350:A:C | I45S | 1.000 |
| 20:3786350:A:G | I45T | 1.000 |
| 20:3786350:A:T | I45N | 1.000 |
| 20:3786359:A:G | L42P | 1.000 |
| 20:3786359:A:T | L42Q | 1.000 |
| 20:3786365:G:A | S40F | 1.000 |
| 20:3786374:A:C | I37S | 1.000 |
| 20:3786374:A:G | I37T | 1.000 |
| 20:3786374:A:T | I37N | 1.000 |
| 20:3786389:G:T | A32E | 1.000 |
| 20:3786434:A:T | I17N | 1.000 |
| 20:3786437:A:C | I16S | 1.000 |
| 20:3786445:C:A | K13N | 1.000 |
| 20:3786445:C:G | K13N | 1.000 |
| 20:3785909:A:G | F192S | 0.999 |
| 20:3786098:C:G | R129P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001768567 (20:3784738 G>A,C), RS1003011500 (20:3788577 T>C,G), RS1003306815 (20:3787528 T>C), RS1003317446 (20:3787320 C>T), RS1003350074 (20:3786913 C>A,G,T), RS1005133073 (20:3784308 G>A), RS1005577078 (20:3783989 G>C), RS1006243082 (20:3786870 C>G), RS1007190611 (20:3786766 G>C,T), RS1009011936 (20:3783744 C>A), RS1010153765 (20:3784307 C>A,T), RS1010232744 (20:3786007 C>T), RS1010453627 (20:3784544 C>G,T), RS1010820621 (20:3787389 CTT>C), RS1011120075 (20:3787673 T>A,G)
Disease associations
OMIM: gene MIM:117140 | 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
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| bisphenol A | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| ferrous chloride | decreases expression | 1 |
| 1-nitropyrene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Lead | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
| Aflatoxin B1 | increases expression, increases response to substance | 1 |
| Acrylamide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1BW | Abcam A-431 CENPB KO | Cancer cell line | Female |
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.