SAP30
gene geneOn this page
Summary
SAP30 (Sin3A associated protein 30, HGNC:10532) is a protein-coding gene on chromosome 4q34.1, encoding Histone deacetylase complex subunit SAP30 (O75446). Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes.
Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3.
Source: NCBI Gene 8819 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 28 total
- MANE Select transcript:
NM_003864
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10532 |
| Approved symbol | SAP30 |
| Name | Sin3A associated protein 30 |
| Location | 4q34.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000164105 |
| Ensembl biotype | protein_coding |
| OMIM | 603378 |
| Entrez | 8819 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000296504, ENST00000504618, ENST00000932477
RefSeq mRNA: 1 — MANE Select: NM_003864
NM_003864
CCDS: CCDS3817
Canonical transcript exons
ENST00000296504 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001081471 | 173370954 | 173371497 |
| ENSE00001081472 | 173377205 | 173377532 |
| ENSE00001081473 | 173373939 | 173374037 |
| ENSE00001081474 | 173373390 | 173373515 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 98.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.0593 / max 242.8450, expressed in 1812 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50622 | 24.5892 | 1811 |
| 50623 | 0.7963 | 480 |
| 50621 | 0.4462 | 214 |
| 50624 | 0.2276 | 76 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.22 | gold quality |
| ventricular zone | UBERON:0003053 | 95.56 | gold quality |
| oocyte | CL:0000023 | 95.22 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.77 | gold quality |
| tibial artery | UBERON:0007610 | 92.32 | gold quality |
| popliteal artery | UBERON:0002250 | 92.30 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.74 | gold quality |
| monocyte | CL:0000576 | 91.58 | gold quality |
| embryo | UBERON:0000922 | 91.51 | gold quality |
| mononuclear cell | CL:0000842 | 91.38 | gold quality |
| aorta | UBERON:0000947 | 91.21 | gold quality |
| leukocyte | CL:0000738 | 90.74 | gold quality |
| adult organism | UBERON:0007023 | 90.63 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 90.38 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.23 | gold quality |
| tendon | UBERON:0000043 | 90.05 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.91 | gold quality |
| ascending aorta | UBERON:0001496 | 89.88 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.68 | gold quality |
| left coronary artery | UBERON:0001626 | 89.52 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.25 | gold quality |
| lower esophagus | UBERON:0013473 | 89.20 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.16 | gold quality |
| sural nerve | UBERON:0015488 | 89.13 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.90 | gold quality |
| coronary artery | UBERON:0001621 | 88.47 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.41 | gold quality |
| right lung | UBERON:0002167 | 88.40 | gold quality |
| right testis | UBERON:0004534 | 88.37 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.05 |
| E-MTAB-9388 | no | 9.96 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IFNB1 |
Upstream regulators (CollecTRI, top): ESR1, HESX1, LHX2, NCOR1, POU1F1, POU4F2, THRA, YY1, ZNF395
miRNA regulators (miRDB)
18 targeting SAP30, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-4801 | 98.96 | 69.42 | 2096 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-3691-3P | 97.90 | 65.97 | 791 |
| HSA-MIR-3129-3P | 97.85 | 67.63 | 1246 |
| HSA-MIR-5583-5P | 97.85 | 67.61 | 1243 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
| HSA-MIR-4474-5P | 94.23 | 67.95 | 568 |
Literature-anchored findings (GeneRIF, showing 10)
- The interaction domains between YY1 and SAP30 were mapped to the C-terminal segment of YY1 (295-414) and the C-terminal 91 amino acid region of SAP30. (PMID:12788099)
- The SAP30 gene may be involved in basal cell carcinogenesis. (PMID:15005689)
- occurrence of an unusual TG 3’ splice site in intron 1 (PMID:17672918)
- PBF binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex (PMID:17897615)
- findings demonstrate new functions for SAP30L and SAP30 by showing that they can associate directly with core histones as well as naked DNA (PMID:19015240)
- In the nucleus, SLy2 interacts with the SAP30/HDAC1 complex and regulates the activity of HDAC1. (PMID:20478393)
- upregulation of NETO2 gene is first stipulated by the isoform 1 (NM_018092.4), and the probable mechanism of its activation is associated with the increased expression of SAP30 transcription factor. (PMID:29989576)
- Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia. (PMID:36302855)
- SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1. (PMID:37655663)
- Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke. (PMID:38154101)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sap30 | ENSMUSG00000031609 |
| rattus_norvegicus | Sap30 | ENSRNOG00000013218 |
| drosophila_melanogaster | Sap30 | FBGN0030788 |
Paralogs (1): SAP30L (ENSG00000164576)
Protein
Protein identifiers
Histone deacetylase complex subunit SAP30 — O75446 (reviewed: O75446)
Alternative names: 30 kDa Sin3-associated polypeptide, Sin3 corepressor complex subunit SAP30, Sin3-associated polypeptide p30
All UniProt accessions (1): O75446
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N-CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones. (Microbial infection) Involved in transcriptional repression of HHV-1 genes TK and gC.
Subunit / interactions. Component of the histone deacetylase complex that includes at least SIN3A, HDAC1 and HDAC2. Found in a complex composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1. Interacts with HDAC1. Interacts with SIN3A, SIN3B, HDAC2, RBBP4 and NCOR1. Interacts with SAMSN1. Interacts with HCFC1. Interacts with SAP30BP.
Subcellular location. Nucleus.
Tissue specificity. Expressed in all tissues tested with highest levels in pancreas, ovary, PBL, spleen and thymus; lowest levels in brain, placenta, lung and kidney.
Similarity. Belongs to the SAP30 family.
RefSeq proteins (1): NP_003855* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024145 | His_deAcase_SAP30/SAP30L | Family |
| IPR025717 | SAP30_zn-finger | Domain |
| IPR025718 | SAP30_Sin3-bd | Domain |
| IPR038291 | SAP30_C_sf | Homologous_superfamily |
Pfam: PF13866, PF13867
UniProt features (23 total): cross-link 4, mutagenesis site 4, strand 4, modified residue 4, region of interest 3, helix 2, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2KDP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75446-F1 | 69.73 | 0.03 |
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): 194, 205, 214, 5, 131, 138, 145, 87
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 67 | abolishes zinc-binding. |
| 68 | retains zinc-binding. |
| 108 | retains zinc-binding. |
| 112 | abolishes zinc-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214815 | HDACs deacetylate histones |
| R-HSA-427413 | NoRC negatively regulates rRNA expression |
| R-HSA-9679191 | Potential therapeutics for SARS |
| R-HSA-1643685 | Disease |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-3247509 | Chromatin modifying enzymes |
| R-HSA-4839726 | Chromatin organization |
| R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| R-HSA-5663205 | Infectious disease |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9679506 | SARS-CoV Infections |
| R-HSA-9824446 | Viral Infection Pathways |
MSigDB gene sets: 317 (showing top):
PID_HDAC_CLASSI_PATHWAY, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_MUSCLE_TISSUE_DEVELOPMENT, PID_TELOMERASE_PATHWAY, MATTIOLI_MGUS_VS_PCL, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, chr4q34, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, AACYNNNNTTCCS_UNKNOWN, BROWNE_HCMV_INFECTION_16HR_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, ONKEN_UVEAL_MELANOMA_UP, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), skeletal muscle cell differentiation (GO:0035914), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459)
GO Molecular Function (6): DNA binding (GO:0003677), transcription coregulator activity (GO:0003712), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): histone deacetylase complex (GO:0000118), nucleus (GO:0005634), nucleoplasm (GO:0005654), Sin3-type complex (GO:0070822)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Negative epigenetic regulation of rRNA expression | 1 |
| SARS-CoV Infections | 1 |
| Gene expression (Transcription) | 1 |
| Chromatin organization | 1 |
| Epigenetic regulation of gene expression | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| stem cell population maintenance | 2 |
| regulation of stem cell population maintenance | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| skeletal muscle tissue development | 1 |
| cell differentiation | 1 |
| negative regulation of developmental process | 1 |
| negative regulation of multicellular organismal process | 1 |
| positive regulation of developmental process | 1 |
| positive regulation of multicellular organismal process | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| transcription coregulator activity | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nucleoplasm | 1 |
| nuclear protein-containing complex | 1 |
| catalytic complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| histone deacetylase complex | 1 |
| nuclear chromosome | 1 |
| chromatin | 1 |
Protein interactions and networks
STRING
884 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAP30 | SAP18 | O00422 | 999 |
| SAP30 | SUDS3 | Q9H7L9 | 999 |
| SAP30 | RBBP4 | P31149 | 998 |
| SAP30 | SIN3A | Q96ST3 | 998 |
| SAP30 | HDAC1 | Q13547 | 997 |
| SAP30 | RBBP7 | Q16576 | 997 |
| SAP30 | HDAC2 | Q92769 | 997 |
| SAP30 | SIN3B | O75182 | 996 |
| SAP30 | BRMS1L | Q5PSV4 | 948 |
| SAP30 | ARID4B | Q4LE39 | 939 |
| SAP30 | ARID4A | P29374 | 921 |
| SAP30 | ING2 | Q9H160 | 902 |
| SAP30 | BRMS1 | Q9HCU9 | 880 |
| SAP30 | NCOR1 | O75376 | 873 |
| SAP30 | ING3 | Q9NXR8 | 847 |
IntAct
112 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCOR2 | HDAC3 | psi-mi:“MI:0915”(physical association) | 0.950 |
| HDAC1 | KDM1A | psi-mi:“MI:0914”(association) | 0.910 |
| HDAC2 | KDM1A | psi-mi:“MI:0914”(association) | 0.890 |
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| RBBP7 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| RBBP7 | HAT1 | psi-mi:“MI:0914”(association) | 0.730 |
| SINHCAF | TNRC18 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF704 | SAP30 | psi-mi:“MI:0914”(association) | 0.640 |
| SIN3A | SAP30 | psi-mi:“MI:0914”(association) | 0.640 |
| SAP30 | APBB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DR1 | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ELAVL4 | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2B | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF3C3 | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG3 | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDRG1 | SAP30 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (355): SAP30 (Affinity Capture-Western), SAP30 (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDB1 (Affinity Capture-Western), SAP30 (Affinity Capture-Western), BRMS1 (Affinity Capture-Western), SAP30 (Affinity Capture-MS), SAP30 (Co-fractionation), SAP30 (Affinity Capture-Western), LYST (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), FOXK2 (Affinity Capture-MS), ING1 (Affinity Capture-MS), ING2 (Affinity Capture-MS)
ESM2 similar proteins: A4FVD8, A5D7H2, O14795, O43237, O55047, O70585, O75446, O88574, P58405, P84060, Q02241, Q0VA03, Q13033, Q14161, Q28H91, Q2TAD4, Q4KUS2, Q4R5P6, Q5EA89, Q5HYJ3, Q5R7U7, Q5RE09, Q5SQF8, Q5ZJ65, Q62768, Q6NYV5, Q6PBM7, Q6PDL0, Q80XP8, Q80YA9, Q811S7, Q86UE8, Q8BIK4, Q8C0V0, Q8CBY8, Q8TAV0, Q8WXI2, Q90ZY6, Q922G2, Q96EZ8
Diamond homologs: A4FVD8, O75446, O88574, Q17Q39, Q28H91, Q29IK8, Q2TAD4, Q5SQF8, Q6NYV5, Q7PXY4, Q9HAJ7, Q9VXB3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 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 |
|---|---|---|---|
| Regulation of TP53 Activity through Acetylation | 5 | 40.8× | 1e-05 |
| Regulation of MECP2 expression and activity | 6 | 39.5× | 3e-06 |
| Downregulation of SMAD2/3:SMAD4 transcriptional activity | 5 | 32.9× | 3e-05 |
| Regulation of PTEN gene transcription | 6 | 19.1× | 4e-05 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | 5 | 17.6× | 3e-04 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | 5 | 17.6× | 3e-04 |
| HDACs deacetylate histones | 8 | 17.2× | 3e-06 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 6 | 15.7× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of stem cell population maintenance | 9 | 98.5× | 6e-14 |
| positive regulation of stem cell population maintenance | 9 | 44.2× | 8e-11 |
| negative regulation of transforming growth factor beta receptor signaling pathway | 9 | 22.3× | 4e-08 |
| heterochromatin formation | 5 | 18.2× | 5e-04 |
| negative regulation of cell migration | 10 | 15.9× | 8e-08 |
| negative regulation of apoptotic process | 10 | 5.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
638 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:173371493:AGAGC:A | donor_gain | 1.0000 |
| 4:173371494:GAGC:G | donor_gain | 1.0000 |
| 4:173371494:GAGCG:G | donor_gain | 1.0000 |
| 4:173371495:AGC:A | donor_gain | 1.0000 |
| 4:173371496:GC:G | donor_gain | 1.0000 |
| 4:173371496:GCG:G | donor_gain | 1.0000 |
| 4:173371497:CGTA:C | donor_loss | 1.0000 |
| 4:173371498:G:GG | donor_gain | 1.0000 |
| 4:173371498:GT:G | donor_loss | 1.0000 |
| 4:173371499:T:A | donor_loss | 1.0000 |
| 4:173373523:G:GT | donor_gain | 1.0000 |
| 4:173373933:TTCTA:T | acceptor_loss | 1.0000 |
| 4:173373934:TCTAG:T | acceptor_loss | 1.0000 |
| 4:173373935:CTAG:C | acceptor_loss | 1.0000 |
| 4:173373936:TA:T | acceptor_loss | 1.0000 |
| 4:173373937:AGG:A | acceptor_loss | 1.0000 |
| 4:173377204:GATA:G | acceptor_gain | 1.0000 |
| 4:173371502:G:GG | donor_gain | 0.9900 |
| 4:173373513:GAG:G | donor_gain | 0.9900 |
| 4:173373523:G:T | donor_gain | 0.9900 |
| 4:173373937:A:AG | acceptor_gain | 0.9900 |
| 4:173373937:AGGTT:A | acceptor_gain | 0.9900 |
| 4:173373938:G:GG | acceptor_gain | 0.9900 |
| 4:173373938:GGTT:G | acceptor_gain | 0.9900 |
| 4:173373938:GGTTG:G | acceptor_gain | 0.9900 |
| 4:173374012:GACT:G | donor_gain | 0.9900 |
| 4:173374033:TTGAG:T | donor_loss | 0.9900 |
| 4:173374034:TGAG:T | donor_loss | 0.9900 |
| 4:173374038:G:A | donor_loss | 0.9900 |
| 4:173374039:T:G | donor_loss | 0.9900 |
AlphaMissense
1432 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:173371381:T:C | C67R | 1.000 |
| 4:173371382:G:A | C67Y | 1.000 |
| 4:173371383:C:G | C67W | 1.000 |
| 4:173371388:T:A | L69Q | 1.000 |
| 4:173371388:T:C | L69P | 1.000 |
| 4:173371408:T:A | C76S | 1.000 |
| 4:173371408:T:C | C76R | 1.000 |
| 4:173371409:G:A | C76Y | 1.000 |
| 4:173371409:G:C | C76S | 1.000 |
| 4:173371410:C:G | C76W | 1.000 |
| 4:173371424:G:A | G81D | 1.000 |
| 4:173371430:C:A | A83D | 1.000 |
| 4:173371435:T:C | F85L | 1.000 |
| 4:173371436:T:C | F85S | 1.000 |
| 4:173371436:T:G | F85C | 1.000 |
| 4:173371437:C:A | F85L | 1.000 |
| 4:173371437:C:G | F85L | 1.000 |
| 4:173371438:A:C | S86R | 1.000 |
| 4:173371439:G:T | S86I | 1.000 |
| 4:173371440:C:A | S86R | 1.000 |
| 4:173371440:C:G | S86R | 1.000 |
| 4:173371445:G:C | R88T | 1.000 |
| 4:173371445:G:T | R88M | 1.000 |
| 4:173371446:G:C | R88S | 1.000 |
| 4:173371446:G:T | R88S | 1.000 |
| 4:173371448:T:A | I89N | 1.000 |
| 4:173371448:T:C | I89T | 1.000 |
| 4:173371448:T:G | I89S | 1.000 |
| 4:173373402:T:C | Y110H | 1.000 |
| 4:173373402:T:G | Y110D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000691525 (4:173377592 A>T), RS1000723553 (4:173377901 C>G), RS1000872642 (4:173372457 C>A,G,T), RS1001090751 (4:173372706 A>T), RS1001211127 (4:173372380 T>C), RS1001831783 (4:173377113 C>A), RS1001985771 (4:173370476 G>A), RS1002329786 (4:173372133 C>T), RS1003155416 (4:173375945 A>G), RS1003230286 (4:173377343 G>A), RS10032507 (4:173371807 G>A), RS1003341215 (4:173370736 G>T), RS1003348457 (4:173369548 C>G), RS1003560851 (4:173370896 C>G), RS1003899826 (4:173377840 T>C)
Disease associations
OMIM: gene MIM:603378 | 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
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | increases expression, decreases expression | 3 |
| sodium arsenite | decreases expression, increases stability | 2 |
| cobaltous chloride | increases expression, decreases reaction | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cyclosporine | affects expression, decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| Batroxase, Bothrops atrox | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| perfluorodecanoic acid | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| tamibarotene | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| ICG 001 | increases 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 | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Amphotericin B | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6B2 | SEES3-1V human SAP30, clone1 | Embryonic stem cell | Male |
| CVCL_A6B3 | SEES3-1V human SAP30, clone2 | Embryonic stem cell | Male |
| CVCL_A6B4 | SEES3-1V human SAP30, clone3 | Embryonic stem cell | Male |
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.