SAP130
gene geneOn this page
Also known as FLJ12761
Summary
SAP130 (Sin3A associated protein 130, HGNC:29813) is a protein-coding gene on chromosome 2q14.3, encoding Histone deacetylase complex subunit SAP130 (Q9H0E3). Acts as a transcriptional repressor.
SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).
Source: NCBI Gene 79595 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 136 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001330301
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29813 |
| Approved symbol | SAP130 |
| Name | Sin3A associated protein 130 |
| Location | 2q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12761 |
| Ensembl gene | ENSG00000136715 |
| Ensembl biotype | protein_coding |
| OMIM | 609697 |
| Entrez | 79595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 36 protein_coding
ENST00000259234, ENST00000259235, ENST00000357702, ENST00000424298, ENST00000450957, ENST00000643581, ENST00000866430, ENST00000866431, ENST00000866432, ENST00000866433, ENST00000866434, ENST00000866435, ENST00000866436, ENST00000866437, ENST00000866438, ENST00000866439, ENST00000866440, ENST00000866441, ENST00000866442, ENST00000866443, ENST00000866444, ENST00000866445, ENST00000866446, ENST00000866447, ENST00000866448, ENST00000866449, ENST00000866450, ENST00000866451, ENST00000866452, ENST00000934352, ENST00000934353, ENST00000934354, ENST00000934355, ENST00000934356, ENST00000934357, ENST00000972237
RefSeq mRNA: 7 — MANE Select: NM_001330301
NM_001145928, NM_001330299, NM_001330300, NM_001330301, NM_001330302, NM_001330303, NM_024545
CCDS: CCDS2153, CCDS54397, CCDS82510, CCDS86881
Canonical transcript exons
ENST00000643581 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000925839 | 127986785 | 127986962 |
| ENSE00000925842 | 127989564 | 127989866 |
| ENSE00000925843 | 127993187 | 127993308 |
| ENSE00001206113 | 127977985 | 127978089 |
| ENSE00001621408 | 128010269 | 128010393 |
| ENSE00001627566 | 127942424 | 127942537 |
| ENSE00001660862 | 127949869 | 127949994 |
| ENSE00001664915 | 128017680 | 128017915 |
| ENSE00001677145 | 128013030 | 128013154 |
| ENSE00001682582 | 127999741 | 127999845 |
| ENSE00001683324 | 128016389 | 128016547 |
| ENSE00001708529 | 128014803 | 128014914 |
| ENSE00001720134 | 127945456 | 127945559 |
| ENSE00001732040 | 127954986 | 127955344 |
| ENSE00001738051 | 128027940 | 128028059 |
| ENSE00001740238 | 128000056 | 128000146 |
| ENSE00001740960 | 127950160 | 127950408 |
| ENSE00001747504 | 127996350 | 127996491 |
| ENSE00001774386 | 128000307 | 128000454 |
| ENSE00003650801 | 128026181 | 128026298 |
| ENSE00003903745 | 127941222 | 127942164 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 93.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.3209 / max 154.5431, expressed in 1802 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30587 | 8.9247 | 1752 |
| 30588 | 3.9239 | 1577 |
| 30586 | 2.0275 | 1269 |
| 30589 | 0.4448 | 218 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 93.92 | gold quality |
| male germ cell | CL:0000015 | 92.71 | gold quality |
| adult organism | UBERON:0007023 | 92.62 | gold quality |
| left testis | UBERON:0004533 | 91.49 | gold quality |
| right testis | UBERON:0004534 | 91.24 | gold quality |
| testis | UBERON:0000473 | 90.53 | gold quality |
| cortical plate | UBERON:0005343 | 88.24 | gold quality |
| secondary oocyte | CL:0000655 | 87.52 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.02 | gold quality |
| ventricular zone | UBERON:0003053 | 86.06 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.05 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.55 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 84.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.44 | gold quality |
| popliteal artery | UBERON:0002250 | 83.92 | gold quality |
| tibial artery | UBERON:0007610 | 83.91 | gold quality |
| embryo | UBERON:0000922 | 83.38 | gold quality |
| granulocyte | CL:0000094 | 83.04 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.95 | gold quality |
| aorta | UBERON:0000947 | 82.77 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.62 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 82.61 | gold quality |
| adenohypophysis | UBERON:0002196 | 82.58 | gold quality |
| pituitary gland | UBERON:0000007 | 82.27 | gold quality |
| skin of leg | UBERON:0001511 | 82.27 | gold quality |
| muscle of leg | UBERON:0001383 | 82.18 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.11 | gold quality |
| blood | UBERON:0000178 | 82.06 | gold quality |
| gingival epithelium | UBERON:0001949 | 81.99 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 81.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.74 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IFNB1 | Unknown |
miRNA regulators (miRDB)
51 targeting SAP130, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6849-5P | 99.64 | 66.00 | 352 |
| HSA-MIR-425-5P | 99.59 | 67.67 | 900 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-642A-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-642B-3P | 99.23 | 67.67 | 1258 |
Literature-anchored findings (GeneRIF, showing 2)
- the TGFbeta pathway activation leads to recruitment of a KLF14-mSin3A-HDAC2 repressor complex to the TGFbetaRII promoter, as well as the remodeling of chromatin to increase histone marks that associate with transcriptional silencing. (PMID:19088080)
- Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130). (PMID:33800128)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sap130a | ENSDARG00000056924 |
| danio_rerio | sap130b | ENSDARG00000079352 |
| mus_musculus | Sap130 | ENSMUSG00000024260 |
| rattus_norvegicus | Sap130 | ENSRNOG00000016773 |
| drosophila_melanogaster | Sap130 | FBGN0262714 |
Protein
Protein identifiers
Histone deacetylase complex subunit SAP130 — Q9H0E3 (reviewed: Q9H0E3)
Alternative names: 130 kDa Sin3-associated polypeptide, Sin3-associated polypeptide p130
All UniProt accessions (5): A0A2R8YDB8, C9J683, C9JTJ5, Q9H0E3, H7BXF5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.
Subunit / interactions. Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3/SAP45, ARID4B/SAP180, HDAC1 and HDAC2. Interacts (released by dead or dying cells) with CLEC4E.
Subcellular location. Nucleus.
Tissue specificity. Expressed in various cancer cell ines.
Post-translational modifications. Acetylated. Sumoylated with SUMO1.
Domain organisation. The N-terminus may interact with a transcriptional coactivator. The C-terminus may interact with HDAC-dependent and HDAC-independent corepressors.
Similarity. Belongs to the SAP130 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0E3-1 | 1 | yes |
| Q9H0E3-2 | 2 | |
| Q9H0E3-3 | 3 |
RefSeq proteins (7): NP_001139400, NP_001317228, NP_001317229, NP_001317230, NP_001317231, NP_001317232, NP_078821 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR024137 | His_deAcase_cplx_SAP130 | Family |
| IPR031963 | SAP130_C | Domain |
Pfam: PF16014
UniProt features (23 total): modified residue 7, region of interest 6, compositionally biased region 4, cross-link 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0E3-F1 | 45.33 | 0.08 |
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 (10): 232, 355, 442, 465, 855, 856, 875, 785, 864, 869
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-3214847 | HATs acetylate histones |
| R-HSA-427413 | NoRC negatively regulates rRNA expression |
| 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-74160 | Gene expression (Transcription) |
MSigDB gene sets: 130 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RNGTGGGC_UNKNOWN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, PAX4_01, NAGY_STAGA_COMPONENTS_HUMAN, GCM_GSPT1, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GGGTGGRR_PAX4_03, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, ZIC1_01, GCM_NUMA1, GOBP_MAINTENANCE_OF_CELL_NUMBER
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459), in utero embryonic development (GO:0001701), embryonic placenta development (GO:0001892), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (0):
GO Cellular Component (3): nucleus (GO:0005634), nuclear speck (GO:0016607), Sin3-type complex (GO:0070822)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Chromatin modifying enzymes | 1 |
| Negative epigenetic regulation of rRNA expression | 1 |
| Gene expression (Transcription) | 1 |
| Chromatin organization | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 |
| negative regulation of DNA-templated transcription | 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 |
| 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 |
| chordate embryonic development | 1 |
| in utero embryonic development | 1 |
| placenta development | 1 |
| embryonic organ development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
| histone deacetylase complex | 1 |
| nuclear chromosome | 1 |
| chromatin | 1 |
Protein interactions and networks
STRING
1485 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAP130 | CLEC4E | Q9ULY5 | 708 |
| SAP130 | OR52W1 | Q6IF63 | 606 |
| SAP130 | MSANTD1 | Q6ZTZ1 | 570 |
| SAP130 | SAP30L | Q9HAJ7 | 514 |
| SAP130 | TADA2B | Q86TJ2 | 512 |
| SAP130 | CLEC7A | Q9BXN2 | 497 |
| SAP130 | CATSPER3 | Q86XQ3 | 490 |
| SAP130 | OR52B2 | Q96RD2 | 482 |
| SAP130 | CNGA4 | Q8IV77 | 470 |
| SAP130 | TAF10 | Q12962 | 459 |
| SAP130 | SNUPN | O95149 | 451 |
| SAP130 | SUDS3 | Q9H7L9 | 445 |
| SAP130 | SAP30 | O75446 | 434 |
| SAP130 | BRMS1L | Q5PSV4 | 414 |
| SAP130 | DMP1 | Q13316 | 414 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| 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 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| RBBP4 | CDK2AP1 | 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 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| SINHCAF | TNRC18 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF704 | SAP30 | psi-mi:“MI:0914”(association) | 0.640 |
| ILF3 | ADAR | psi-mi:“MI:0914”(association) | 0.640 |
| SIN3B | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP4 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP7 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP7 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| SAP30 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (248): SAP130 (Affinity Capture-Western), SAP130 (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDB1 (Affinity Capture-Western), SAP130 (Co-fractionation), SAP130 (Affinity Capture-MS), SAP130 (Affinity Capture-MS), SAP130 (Co-fractionation), SIN3A (Co-fractionation), SAP130 (Affinity Capture-Western), SAP130 (Reconstituted Complex), SAP130 (Proximity Label-MS), SAP130 (Affinity Capture-MS), SAP130 (Affinity Capture-MS), SAP130 (Affinity Capture-MS)
ESM2 similar proteins: A0JME2, A2AUY4, D3ZKB9, D4A666, E1B7L7, F1QZ88, F6NSX9, F8VPJ6, P59759, P78364, Q08CM4, Q0IHV2, Q15723, Q2IBE6, Q2IBF7, Q2QLB3, Q3TUF7, Q4G0F8, Q5DTH5, Q5U4Q0, Q5ZIE8, Q5ZM88, Q63HK5, Q641Z1, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZSZ6, Q6ZU65, Q76L83, Q7ZUK7, Q7ZUV7, Q80WC1, Q8AYC1, Q8BZ32, Q8C966, Q8CGV9, Q8CHP6, Q8NDX5
Diamond homologs: Q5F3U0, Q5M7C3, Q6DDH6, Q8BIH0, Q9H0E3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 119 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 | 6 | 32.6× | 1e-05 |
| Deactivation of the beta-catenin transactivating complex | 5 | 13.9× | 1e-03 |
| Regulation of PTEN gene transcription | 6 | 12.8× | 6e-04 |
| HDACs deacetylate histones | 7 | 10.0× | 6e-04 |
| Negative Regulation of CDH1 Gene Transcription | 7 | 10.0× | 6e-04 |
| TCF dependent signaling in response to WNT | 7 | 9.8× | 6e-04 |
| Potential therapeutics for SARS | 7 | 9.5× | 6e-04 |
| Transcriptional regulation by RUNX1 | 5 | 8.7× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of stem cell population maintenance | 9 | 61.0× | 2e-12 |
| positive regulation of stem cell population maintenance | 10 | 30.4× | 1e-10 |
| negative regulation of transforming growth factor beta receptor signaling pathway | 9 | 13.8× | 2e-06 |
| somatic stem cell population maintenance | 6 | 13.2× | 4e-04 |
| negative regulation of cell migration | 10 | 9.9× | 8e-06 |
| DNA replication | 6 | 8.8× | 4e-03 |
| transcription by RNA polymerase II | 12 | 7.5× | 8e-06 |
| chromatin remodeling | 11 | 7.1× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 112 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 808800 | NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter) | Likely pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
6808 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:127942067:A:G | L1029P | 1.000 |
| 2:127942076:A:T | V1026D | 1.000 |
| 2:127942119:C:G | A1012P | 1.000 |
| 2:127942130:T:G | Q1008P | 1.000 |
| 2:127942142:A:G | L1004P | 1.000 |
| 2:127942147:A:C | C1002W | 1.000 |
| 2:127942150:C:A | R1001S | 1.000 |
| 2:127942150:C:G | R1001S | 1.000 |
| 2:127942151:C:A | R1001M | 1.000 |
| 2:127942151:C:G | R1001T | 1.000 |
| 2:127942153:C:A | Q1000H | 1.000 |
| 2:127942153:C:G | Q1000H | 1.000 |
| 2:127942154:T:G | Q1000P | 1.000 |
| 2:127942159:A:C | N998K | 1.000 |
| 2:127942159:A:T | N998K | 1.000 |
| 2:127942163:C:T | G997E | 1.000 |
| 2:127942164:C:G | G997R | 1.000 |
| 2:127942164:C:T | G997R | 1.000 |
| 2:127942431:A:G | L994P | 1.000 |
| 2:127942497:A:G | L972P | 1.000 |
| 2:127942506:A:G | L969P | 1.000 |
| 2:127945457:A:G | L958P | 1.000 |
| 2:127945481:A:G | L950P | 1.000 |
| 2:127945492:C:A | W946C | 1.000 |
| 2:127945492:C:G | W946C | 1.000 |
| 2:127945493:C:G | W946S | 1.000 |
| 2:127945494:A:G | W946R | 1.000 |
| 2:127945494:A:T | W946R | 1.000 |
| 2:127945496:C:T | G945D | 1.000 |
| 2:127945497:C:G | G945R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000029976 (2:127975425 T>C), RS1000110688 (2:128016658 C>T), RS1000129196 (2:128022778 C>T), RS1000150497 (2:128020163 T>A,C), RS1000182219 (2:128019831 A>C,T), RS1000224546 (2:128022446 T>C), RS1000246311 (2:127979784 G>A), RS1000254962 (2:127945013 T>G), RS1000257930 (2:127982116 G>A,T), RS1000367822 (2:127945809 T>C), RS1000377873 (2:127974526 A>C), RS1000388147 (2:127988448 A>C,T), RS1000418017 (2:127945567 C>G,T), RS1000429761 (2:128014154 A>G), RS1000461461 (2:128016858 C>T)
Disease associations
OMIM: gene MIM:609697 | 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 (2): CHEMBL1229012 (SINGLE PROTEIN), CHEMBL3885592 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Particulate Matter | decreases expression, increases abundance, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| cobaltous chloride | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1226396 | Binding | Binding affinity to SAP130 in human HeLa cells at 2 uM by LC-MS/MS analysis | Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA. — Nat Chem Biol |
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.