CENATAC
gene geneOn this page
Also known as DLNB14
Summary
CENATAC (centrosomal AT-AC splicing factor, HGNC:30460) is a protein-coding gene on chromosome 11q23.3, encoding Centrosomal AT-AC splicing factor (Q86UT8). Component of the minor spliceosome that promotes splicing of a specific, rare minor intron subtype. It is a common-essential gene (DepMap: required in 99.3% of cancer cell lines).
This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 338657 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mosaic variegated aneuploidy syndrome 4 (Limited, GenCC)
- Clinical variants (ClinVar): 87 total — 2 pathogenic
- Phenotypes (HPO): 4
- Cancer dependency (DepMap): dependent in 99.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_198489
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30460 |
| Approved symbol | CENATAC |
| Name | centrosomal AT-AC splicing factor |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DLNB14 |
| Ensembl gene | ENSG00000186166 |
| Ensembl biotype | protein_coding |
| OMIM | 620142 |
| Entrez | 338657 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 retained_intron, 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000334418, ENST00000524670, ENST00000526463, ENST00000527356, ENST00000528088, ENST00000532132, ENST00000533787, ENST00000534656, ENST00000580556, ENST00000583842, ENST00000891520, ENST00000937690
RefSeq mRNA: 1 — MANE Select: NM_198489
NM_198489
CCDS: CCDS8405
Canonical transcript exons
ENST00000334418 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001336373 | 119011221 | 119011283 |
| ENSE00001336377 | 119015538 | 119015793 |
| ENSE00001336378 | 118998138 | 118998317 |
| ENSE00003471497 | 119015307 | 119015439 |
| ENSE00003476708 | 118998430 | 118998593 |
| ENSE00003536694 | 118999011 | 118999109 |
| ENSE00003555622 | 119012149 | 119012254 |
| ENSE00003555873 | 119014994 | 119015083 |
| ENSE00003565648 | 119010764 | 119010830 |
| ENSE00003637325 | 119013232 | 119013262 |
| ENSE00003691033 | 119011939 | 119012003 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 95.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.2985 / max 198.2184, expressed in 1784 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117080 | 15.2560 | 1770 |
| 117078 | 0.5539 | 340 |
| 117079 | 0.4886 | 288 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 95.95 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.93 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.86 | gold quality |
| cerebellum | UBERON:0002037 | 95.86 | gold quality |
| sural nerve | UBERON:0015488 | 95.74 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.58 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.43 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.32 | gold quality |
| granulocyte | CL:0000094 | 95.15 | gold quality |
| pituitary gland | UBERON:0000007 | 95.15 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.14 | gold quality |
| spleen | UBERON:0002106 | 95.11 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.95 | gold quality |
| right lung | UBERON:0002167 | 94.93 | gold quality |
| apex of heart | UBERON:0002098 | 94.87 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.84 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.83 | gold quality |
| tibial nerve | UBERON:0001323 | 94.68 | gold quality |
| thyroid gland | UBERON:0002046 | 94.63 | gold quality |
| skin of leg | UBERON:0001511 | 94.62 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.61 | gold quality |
| zone of skin | UBERON:0000014 | 94.60 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.36 | gold quality |
| right uterine tube | UBERON:0001302 | 94.19 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.97 | gold quality |
| ectocervix | UBERON:0012249 | 93.79 | gold quality |
| uterine cervix | UBERON:0000002 | 93.72 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 93.68 | gold quality |
| body of pancreas | UBERON:0001150 | 93.65 | gold quality |
| endocervix | UBERON:0000458 | 93.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.56 |
| E-MTAB-4850 | no | 128.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting CENATAC, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4718 | 98.55 | 68.61 | 814 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
| HSA-MIR-218-2-3P | 98.08 | 67.21 | 601 |
| HSA-MIR-152-5P | 96.42 | 66.59 | 960 |
| HSA-MIR-584-5P | 95.82 | 68.05 | 848 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation. (PMID:31722219)
- Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. (PMID:34009673)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cenatac | ENSDARG00000059606 |
| mus_musculus | Cenatac | ENSMUSG00000043923 |
| rattus_norvegicus | Cenatac | ENSRNOG00000012137 |
Protein
Protein identifiers
Centrosomal AT-AC splicing factor — Q86UT8 (reviewed: Q86UT8)
Alternative names: Coiled-coil domain-containing protein 84
All UniProt accessions (3): E9PJ16, E9PPT8, Q86UT8
UniProt curated annotations — full annotation on UniProt →
Function. Component of the minor spliceosome that promotes splicing of a specific, rare minor intron subtype. Negative regulator of centrosome duplication. Constrains centriole number by modulating the degradation of the centrosome-duplication-associated protein SASS6 in an acetylation-dependent manner. SIRT1 deacetylates CENATAC in G1 phase, allowing for SASS6 accumulation on the centrosome and subsequent procentriole assembly. The CENATAC acetylation level is restored in mitosis by NAT10, promoting SASS6 proteasome degradation by facilitating SASS6 binding to APC/C E3 ubiquitin-protein ligase complex/FZR1.
Subunit / interactions. Interacts with SASS6; the interaction increases with CENATAC acetylation.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Post-translational modifications. Acetylated. Acetylation oscillates throughout the cell cycle, and the acetylation state at Lys-31 is regulated by the deacetylase SIRT1 and the acetyltransferase NAT10. Deacetylated CENATAC is responsible for its centrosome targeting, and acetylated CENATAC promotes SASS6 degradation by enhancing the binding affinity of SASS6 for APC/C E3 ubiquitin-protein ligase complex/FZR1.
Disease relevance. Mosaic variegated aneuploidy syndrome 4 (MVA4) [MIM:620153] A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
RefSeq proteins (1): NP_940891* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028015 | CCDC84-like | Family |
Pfam: PF14968
UniProt features (9 total): region of interest 2, mutagenesis site 2, chain 1, coiled-coil region 1, compositionally biased region 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8Y6O | ELECTRON MICROSCOPY | 3.38 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UT8-F1 | 76.92 | 0.44 |
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 (1): 31
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 31 | increases interaction with sass6. |
| 31 | strongly reduces acetylation. no effect on interaction with sass6. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 104 (showing top):
GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CHROMOSOME_SEPARATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING
GO Biological Process (6): mRNA splicing, via spliceosome (GO:0000398), negative regulation of centrosome duplication (GO:0010826), regulation of protein catabolic process (GO:0042176), chromosome separation (GO:0051304), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| regulation of centrosome duplication | 1 |
| negative regulation of centrosome cycle | 1 |
| centrosome duplication | 1 |
| regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein metabolic process | 1 |
| chromosome segregation | 1 |
| cell cycle process | 1 |
| mRNA metabolic process | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
430 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CENATAC | C6orf52 | Q5T4I8 | 613 |
| CENATAC | ENTR1 | Q96C92 | 528 |
| CENATAC | DYNC1LI2 | O43237 | 499 |
| CENATAC | CCDC107 | Q8WV48 | 489 |
| CENATAC | MRPL40 | Q9NQ50 | 484 |
| CENATAC | TMEM87A | Q8NBN3 | 475 |
| CENATAC | CCDC190 | Q86UF4 | 431 |
| CENATAC | CCP110 | O43303 | 427 |
| CENATAC | TEPSIN | Q96N21 | 426 |
| CENATAC | CCDC169 | A6NNP5 | 424 |
| CENATAC | KATNIP | O60303 | 423 |
| CENATAC | CCDC74B | Q96LY2 | 419 |
| CENATAC | SNRNP48 | Q6IEG0 | 419 |
| CENATAC | TMEM208 | Q9BTX3 | 418 |
| CENATAC | INTS10 | Q9NVR2 | 407 |
IntAct
53 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| CENATAC | TXNL4B | psi-mi:“MI:0915”(physical association) | 0.770 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| PRPF3 | PRPF4 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPG | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | SART1 | psi-mi:“MI:0914”(association) | 0.640 |
| CENATAC | ZNF114 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CENATAC | MRPL38 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MESD | CENATAC | psi-mi:“MI:0915”(physical association) | 0.560 |
| CENATAC | PPIL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CENATAC | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLC2 | KIF5B | psi-mi:“MI:0914”(association) | 0.530 |
| G3BP1 | COX5A | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| CENATAC | GINS1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| ADARB1 | SPTY2D1 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ECE1 | CENATAC | psi-mi:“MI:0915”(physical association) | 0.370 |
| YWHAZ | WDR62 | psi-mi:“MI:0914”(association) | 0.350 |
| PRPF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Mtx2 | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| Jup | psi-mi:“MI:0914”(association) | 0.350 | |
| PIM2 | NUP98 | psi-mi:“MI:0914”(association) | 0.350 |
| Tgs1 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (74): PRPF3 (Affinity Capture-MS), TUT1 (Affinity Capture-MS), SART3 (Affinity Capture-MS), WDR83 (Affinity Capture-MS), DCAF5 (Affinity Capture-MS), TXNL4B (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS), CCDC84 (Affinity Capture-MS)
ESM2 similar proteins: A4D161, A6H7A8, E1BGQ2, O70524, O75391, P29084, P29540, P70445, Q14161, Q15650, Q28J59, Q2KJF9, Q2NL14, Q2VPL9, Q32LC9, Q32NC0, Q3ZK22, Q4V8D7, Q4VA36, Q5R595, Q5R802, Q5R9D9, Q5RFL7, Q5XI52, Q5ZJK1, Q66H91, Q6AY70, Q7TNE3, Q861R7, Q86UT8, Q8BND4, Q8BQR4, Q8BXK4, Q8C790, Q8IWR0, Q8K2I9, Q8NFZ0, Q8VDD9, Q8WWQ0, Q922H9
Diamond homologs: F4JRR5, Q4VA36, Q86UT8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 44 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 | 5 | 117.5× | 4e-08 |
| snRNP Assembly | 7 | 54.8× | 5e-09 |
| SARS-CoV-2 modulates host translation machinery | 5 | 41.5× | 2e-06 |
| RNA Polymerase II Transcription Termination | 5 | 40.7× | 2e-06 |
| mRNA Splicing | 6 | 24.4× | 2e-06 |
| SARS-CoV-2-host interactions | 5 | 22.0× | 4e-05 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 18.3× | 1e-05 |
| mRNA Splicing - Major Pathway | 9 | 18.2× | 4e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 7 | 109.9× | 4e-11 |
| mRNA splicing, via spliceosome | 10 | 24.8× | 6e-10 |
| RNA splicing | 7 | 16.7× | 9e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2627019 | NM_198489.3(CENATAC):c.805+2_805+19del | Pathogenic |
| 2627020 | NM_198489.3(CENATAC):c.803A>T (p.Glu268Val) | Pathogenic |
SpliceAI
1695 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:118998291:G:GT | donor_gain | 1.0000 |
| 11:118998314:CCAG:C | donor_loss | 1.0000 |
| 11:118998315:CAGGT:C | donor_loss | 1.0000 |
| 11:118998316:AGG:A | donor_loss | 1.0000 |
| 11:118998317:GGTG:G | donor_loss | 1.0000 |
| 11:118999006:TTCA:T | acceptor_loss | 1.0000 |
| 11:118999007:TCA:T | acceptor_loss | 1.0000 |
| 11:118999009:A:AG | acceptor_gain | 1.0000 |
| 11:118999010:G:GC | acceptor_gain | 1.0000 |
| 11:118999010:GC:G | acceptor_gain | 1.0000 |
| 11:118999010:GCCC:G | acceptor_gain | 1.0000 |
| 11:118999010:GCCCA:G | acceptor_gain | 1.0000 |
| 11:119010829:AGG:A | donor_loss | 1.0000 |
| 11:119010831:G:C | donor_loss | 1.0000 |
| 11:119010832:T:A | donor_loss | 1.0000 |
| 11:119014989:TTCA:T | acceptor_loss | 1.0000 |
| 11:119014990:TCA:T | acceptor_loss | 1.0000 |
| 11:119014991:CAG:C | acceptor_loss | 1.0000 |
| 11:119014992:A:AG | acceptor_gain | 1.0000 |
| 11:119014992:AG:A | acceptor_gain | 1.0000 |
| 11:119014992:AGGT:A | acceptor_gain | 1.0000 |
| 11:119014993:G:GA | acceptor_gain | 1.0000 |
| 11:119014993:GG:G | acceptor_gain | 1.0000 |
| 11:119014993:GGT:G | acceptor_gain | 1.0000 |
| 11:119014993:GGTG:G | acceptor_gain | 1.0000 |
| 11:119014993:GGTGC:G | acceptor_gain | 1.0000 |
| 11:119015079:AGAAA:A | donor_gain | 1.0000 |
| 11:119015080:GAAA:G | donor_gain | 1.0000 |
| 11:119015080:GAAAG:G | donor_gain | 1.0000 |
| 11:119015081:A:T | donor_gain | 1.0000 |
AlphaMissense
2182 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:119015399:T:C | F300L | 0.999 |
| 11:119015401:T:A | F300L | 0.999 |
| 11:119015401:T:G | F300L | 0.999 |
| 11:119015411:T:A | W304R | 0.999 |
| 11:119015411:T:C | W304R | 0.999 |
| 11:119015413:G:C | W304C | 0.999 |
| 11:119015413:G:T | W304C | 0.999 |
| 11:119015008:T:A | W244R | 0.998 |
| 11:119015008:T:C | W244R | 0.998 |
| 11:119015387:T:A | W296R | 0.998 |
| 11:119015387:T:C | W296R | 0.998 |
| 11:119015357:T:C | F286L | 0.997 |
| 11:119015359:T:A | F286L | 0.997 |
| 11:119015359:T:G | F286L | 0.997 |
| 11:119015389:G:C | W296C | 0.996 |
| 11:119015389:G:T | W296C | 0.996 |
| 11:119015403:G:A | G301D | 0.996 |
| 11:119015412:G:C | W304S | 0.996 |
| 11:119015426:C:A | R309S | 0.996 |
| 11:119015545:T:C | F316L | 0.996 |
| 11:119015547:C:A | F316L | 0.996 |
| 11:119015547:C:G | F316L | 0.996 |
| 11:119015343:G:C | R281P | 0.995 |
| 11:119015400:T:G | F300C | 0.995 |
| 11:119015010:G:C | W244C | 0.994 |
| 11:119015010:G:T | W244C | 0.994 |
| 11:118999040:T:C | F105S | 0.993 |
| 11:118999042:T:A | W106R | 0.993 |
| 11:118999042:T:C | W106R | 0.993 |
| 11:119015349:G:A | G283E | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000121364 (11:119015770 A>G), RS1000313978 (11:118996719 C>T), RS1000433036 (11:119010632 C>A,T), RS1000448558 (11:119011864 C>A,G,T), RS1000559872 (11:119005258 A>C,G), RS1000762085 (11:118999526 TC>T), RS1000816683 (11:119013502 C>A,G,T), RS1000998911 (11:119006202 T>G), RS1001030223 (11:119006617 C>G), RS1001085941 (11:119000537 T>C), RS1001411603 (11:118996996 A>G), RS1001464050 (11:118997314 T>C,G), RS1001526503 (11:119011226 A>G), RS1001746295 (11:119016060 G>A), RS1001757740 (11:119002495 C>G,T)
Disease associations
OMIM: gene MIM:620142 | disease phenotypes: MIM:620153
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| mosaic variegated aneuploidy syndrome 4 | Limited | Autosomal recessive |
Mondo (1): mosaic variegated aneuploidy syndrome 4 (MONDO:0859329)
Orphanet (0):
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0003220 | Abnormality of chromosome stability |
| HP:0011342 | Mild global developmental delay |
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
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| bisphenol A | increases expression, affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction | 2 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 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 |
| Decitabine | affects expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Silver | increases expression | 1 |
| Smoke | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: mosaic variegated aneuploidy syndrome 4
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mosaic variegated aneuploidy syndrome 4