ATAD3B
gene geneOn this page
Also known as TOB3KIAA1273
Summary
ATAD3B (ATPase family AAA domain containing 3B, HGNC:24007) is a protein-coding gene on chromosome 1p36.33, encoding ATPase family AAA domain-containing protein 3B (Q5T9A4). May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network.
The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 83858 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 257 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_031921
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24007 |
| Approved symbol | ATAD3B |
| Name | ATPase family AAA domain containing 3B |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TOB3, KIAA1273 |
| Ensembl gene | ENSG00000160072 |
| Ensembl biotype | protein_coding |
| OMIM | 612317 |
| Entrez | 83858 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000308647, ENST00000378736, ENST00000472194, ENST00000474481, ENST00000485748, ENST00000673477, ENST00000940533, ENST00000940534, ENST00000940535, ENST00000940536
RefSeq mRNA: 2 — MANE Select: NM_031921
NM_001317238, NM_031921
CCDS: CCDS30
Canonical transcript exons
ENST00000673477 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003459370 | 1485016 | 1485171 |
| ENSE00003467707 | 1477274 | 1477350 |
| ENSE00003474888 | 1480867 | 1480936 |
| ENSE00003497242 | 1490563 | 1490671 |
| ENSE00003505365 | 1490257 | 1490424 |
| ENSE00003510521 | 1482545 | 1482614 |
| ENSE00003569130 | 1478644 | 1478745 |
| ENSE00003594545 | 1486110 | 1486235 |
| ENSE00003608502 | 1479049 | 1479108 |
| ENSE00003654064 | 1482138 | 1482303 |
| ENSE00003655926 | 1485782 | 1485838 |
| ENSE00003670332 | 1489204 | 1489274 |
| ENSE00003689846 | 1487863 | 1487914 |
| ENSE00003889014 | 1471765 | 1472089 |
| ENSE00003892109 | 1486544 | 1486668 |
| ENSE00003892597 | 1495485 | 1497848 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 92.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.1003 / max 271.0313, expressed in 1794 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 116 | 20.0355 | 1794 |
| 117 | 0.0649 | 14 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 92.83 | gold quality |
| sural nerve | UBERON:0015488 | 92.61 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.56 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.93 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.91 | gold quality |
| pituitary gland | UBERON:0000007 | 91.61 | gold quality |
| granulocyte | CL:0000094 | 91.50 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.48 | gold quality |
| ileal mucosa | UBERON:0000331 | 91.42 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.93 | gold quality |
| skin of leg | UBERON:0001511 | 90.68 | gold quality |
| left ovary | UBERON:0002119 | 90.32 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.29 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.06 | gold quality |
| endocervix | UBERON:0000458 | 89.96 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.95 | gold quality |
| body of pancreas | UBERON:0001150 | 89.94 | gold quality |
| left uterine tube | UBERON:0001303 | 89.93 | gold quality |
| upper arm skin | UBERON:0004263 | 89.75 | silver quality |
| esophagus mucosa | UBERON:0002469 | 89.58 | gold quality |
| minor salivary gland | UBERON:0001830 | 89.52 | gold quality |
| body of uterus | UBERON:0009853 | 89.47 | gold quality |
| spleen | UBERON:0002106 | 89.45 | gold quality |
| transverse colon | UBERON:0001157 | 89.36 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.26 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.19 | gold quality |
| apex of heart | UBERON:0002098 | 89.18 | gold quality |
| thyroid gland | UBERON:0002046 | 89.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.11 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 263.76 |
| E-ANND-3 | no | 3.33 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1, MYC
miRNA regulators (miRDB)
8 targeting ATAD3B, 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-365A-5P | 94.91 | 63.72 | 471 |
| HSA-MIR-365B-5P | 94.91 | 63.79 | 470 |
Literature-anchored findings (GeneRIF, showing 11)
- Results suggest that mitochondrial DNA displacement loops serve to recruit ATAD3 protein for the purpose of forming or segregating mitochondrial nucleoids. (PMID:17210950)
- These results demonstrate the potential for ATAD 3B as a putative marker in discriminating astrocytomas from oligodendrogliomas. (PMID:18639545)
- ATAD3 may therefore be implicated in an unknown but essential and growth-linked mitochondrial function existing since pluri-cellular -organization and involved in tumorigenesis. (PMID:22192748)
- ATAD3B is a negative regulator of ATAD3A and may function as an adaptor of mitochondrial homeostasis and metabolism in human pluripotent embryonic stem cells and cancer cells. (PMID:22664726)
- results indicated the ATAD3B gene, which does not have ERalpha binding site within 20 kb of its TSS, to be significantly associated with poor patient survival. (PMID:23818839)
- exploring ATAD3 mRNA expression, we confirmed the existence of an alternative splicing in rodent and of several mRNA isoforms in human (PMID:24239551)
- ATAD3B region deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. (PMID:28549128)
- AAA-TOB3 was highly expressed in lung adenocarcinoma, and the up-regulation of AAA-TOB3 correlated with lymph node metastasis and advanced stage of lung adenocarcinoma. (PMID:28623644)
- ATAD3B is a mitophagy receptor mediating clearance of oxidative stress-induced damaged mitochondrial DNA. (PMID:33665835)
- ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study. (PMID:35136033)
- Circ_ATAD3B inhibits cell proliferation of breast cancer via mediating the miR-570-3p/MX2 axis. (PMID:37286092)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atad3 | ENSDARG00000086848 |
Paralogs (2): ATAD3A (ENSG00000197785), ATAD3C (ENSG00000215915)
Protein
Protein identifiers
ATPase family AAA domain-containing protein 3B — Q5T9A4 (reviewed: Q5T9A4)
Alternative names: AAA-TOB3
All UniProt accessions (2): Q5T9A4, A0A5K1VW56
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. May act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes.
Subunit / interactions. Forms heterooligomers with ATAD3A. Interacts with components of the mitochondrial ribosome, including MRPL11 and MRPS18B, and with other proteins involved in mitochondrial RNA metabolism, possibly via interaction with ATAD3A. Interacts with GADD45GIP1.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Tends to be down-regulated in differentiated cells and re-expressed in pluripotent stem cells or cancer cells (at protein level).
Induction. Up-regulated by MYC.
Similarity. Belongs to the AAA ATPase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T9A4-1 | 1, AAA-TOB3l | yes |
| Q5T9A4-2 | 2 | |
| Q5T9A4-3 | 3, AAA-TOB3s |
RefSeq proteins (2): NP_001304167, NP_114127* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003593 | AAA+_ATPase | Domain |
| IPR003959 | ATPase_AAA_core | Domain |
| IPR021911 | ATAD3_N | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00004, PF12037
UniProt features (24 total): splice variant 6, compositionally biased region 3, modified residue 3, topological domain 2, sequence conflict 2, region of interest 2, initiator methionine 1, chain 1, binding site 1, sequence variant 1, intramembrane region 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T9A4-F1 | 77.69 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 352–359
Post-translational modifications (3): 2, 427, 495
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 54 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, TGCGCANK_UNKNOWN, GOCC_SECRETORY_GRANULE, MYCMAX_01, GOCC_MITOCHONDRIAL_ENVELOPE, FISCHER_DREAM_TARGETS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_SECRETORY_VESICLE, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_SECRETORY_GRANULE_MEMBRANE, USF2_Q6, MYC_Q2, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING
GO Biological Process (1): mitochondrion organization (GO:0007005)
GO Molecular Function (3): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| organelle organization | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| secretory granule membrane | 1 |
| tertiary granule | 1 |
| ficolin-1-rich granule | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1202 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATAD3B | TOB2 | Q14106 | 572 |
| ATAD3B | RAD51 | Q06609 | 544 |
| ATAD3B | MYO5C | Q9NQX4 | 433 |
| ATAD3B | PRAMEF18 | Q5VWM3 | 432 |
| ATAD3B | TOB1 | P50616 | 417 |
| ATAD3B | PRAMEF7 | Q5VXH5 | 417 |
| ATAD3B | ABCB7 | O75027 | 409 |
| ATAD3B | DUT | P33316 | 406 |
| ATAD3B | TGM3 | Q08188 | 404 |
| ATAD3B | CITED1 | Q99966 | 393 |
| ATAD3B | SYNE2 | Q8WXH0 | 390 |
| ATAD3B | MRTFA | Q969V6 | 381 |
| ATAD3B | DNAH5 | Q8TE73 | 378 |
| ATAD3B | MCM6 | Q14566 | 372 |
| ATAD3B | MYC | P01106 | 367 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| MED18 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED7 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| NDUFAF1 | NDUFS3 | psi-mi:“MI:0914”(association) | 0.790 |
| NDUFAF4 | NDUFS7 | psi-mi:“MI:0914”(association) | 0.790 |
| PRELID3B | TRIAP1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| BRAF | KRAS | psi-mi:“MI:0914”(association) | 0.680 |
| PKN3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.680 |
| DYRK1A | RB1 | psi-mi:“MI:0914”(association) | 0.670 |
| LYRM7 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFAF4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| ETFRF1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| ATAD3A | HSPD1 | psi-mi:“MI:0914”(association) | 0.580 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| MAPK6 | ECI2 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| PBXIP1 | KCNN4 | psi-mi:“MI:0914”(association) | 0.530 |
| DYRK1B | BMAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ATAD3B | HSPD1 | psi-mi:“MI:0914”(association) | 0.480 |
| vpu | SCAMP3 | psi-mi:“MI:0914”(association) | 0.460 |
BioGRID (300): ATAD3B (Affinity Capture-MS), ATAD3B (Affinity Capture-MS), ATAD3B (Co-fractionation), ATAD3B (Co-fractionation), ATAD3B (Co-fractionation), ATAD3B (Co-fractionation), EIF2S2 (Co-fractionation), FTSJ3 (Co-fractionation), PHB2 (Co-fractionation), RPN1 (Co-fractionation), SRP68 (Co-fractionation), SSR1 (Co-fractionation), VCP (Co-fractionation), ATAD3B (Affinity Capture-MS), ATAD3B (Affinity Capture-MS)
ESM2 similar proteins: A0JWY3, A4H452, A4HSC9, A4WYU7, A8NS89, A9WSI4, B8NHD6, B8ZRF0, C0ZZV2, C6WIC8, C8XAR0, F4IF36, O15706, O50202, O96553, P0DV51, P17255, P23225, P34118, P46509, P53904, P54659, P84193, Q0JKD0, Q14764, Q2UMG1, Q3KRE0, Q3SYU9, Q4CUM2, Q4QJJ7, Q54WZ2, Q54WZ3, Q57Z03, Q5EAJ7, Q5R9N2, Q5T9A4, Q5ZMI4, Q62667, Q69RJ0, Q6P3L0
Diamond homologs: A7YWC4, C8W731, D1C4U5, D5H7Z5, O27092, P42811, Q20748, Q3KRE0, Q58889, Q58E76, Q5T2N8, Q5T9A4, Q6NVR9, Q6PAX2, Q925I1, Q9NVI7, Q9VEX6, A7I8B8, B3DV46, C7N914, D7Y2H4, O26824, O64982, P03974, P0DKJ9, P0DKK0, P23787, P25694, P32795, P46462, P54811, P54812, P55072, P73437, Q01853, Q01939, Q05AS3, Q2NIN5, Q3ULF4, Q3UMC0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 210 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 |
|---|---|---|---|
| Signaling by ERBB2 ECD mutants | 5 | 24.3× | 2e-04 |
| GRB2 events in ERBB2 signaling | 5 | 23.0× | 2e-04 |
| SHC1 events in ERBB2 signaling | 5 | 17.2× | 5e-04 |
| Signaling by ERBB2 TMD/JMD mutants | 5 | 17.2× | 5e-04 |
| Signaling by ERBB2 KD Mutants | 5 | 15.3× | 7e-04 |
| Signaling by high-kinase activity BRAF mutants | 5 | 11.5× | 2e-03 |
| Complex I biogenesis | 9 | 10.8× | 5e-05 |
| MAP2K and MAPK activation | 5 | 10.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial respiratory chain complex I assembly | 8 | 17.5× | 2e-05 |
| peptidyl-tyrosine phosphorylation | 7 | 15.7× | 1e-04 |
| mitochondrial electron transport, NADH to ubiquinone | 6 | 11.4× | 3e-03 |
| intrinsic apoptotic signaling pathway | 6 | 11.4× | 3e-03 |
| protein autophosphorylation | 8 | 6.2× | 9e-03 |
| protein phosphorylation | 15 | 5.4× | 8e-05 |
| negative regulation of apoptotic process | 17 | 3.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
257 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 193 |
| Likely benign | 17 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 144807 | GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 | Pathogenic |
SpliceAI
2886 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:1472085:CTCGC:C | donor_gain | 1.0000 |
| 1:1472086:TCGC:T | donor_gain | 1.0000 |
| 1:1472087:CGCG:C | donor_loss | 1.0000 |
| 1:1472088:GC:G | donor_gain | 1.0000 |
| 1:1472089:CGTG:C | donor_loss | 1.0000 |
| 1:1472090:G:GG | donor_gain | 1.0000 |
| 1:1472090:GT:G | donor_loss | 1.0000 |
| 1:1477351:G:GG | donor_gain | 1.0000 |
| 1:1478743:GCC:G | donor_gain | 1.0000 |
| 1:1478746:G:GG | donor_gain | 1.0000 |
| 1:1479048:GA:G | acceptor_gain | 1.0000 |
| 1:1479105:GCAG:G | donor_gain | 1.0000 |
| 1:1479106:CAGG:C | donor_loss | 1.0000 |
| 1:1479107:AGGTG:A | donor_loss | 1.0000 |
| 1:1479109:G:C | donor_loss | 1.0000 |
| 1:1480851:T:TA | acceptor_gain | 1.0000 |
| 1:1480853:C:CA | acceptor_gain | 1.0000 |
| 1:1480854:G:A | acceptor_gain | 1.0000 |
| 1:1480865:A:AG | acceptor_gain | 1.0000 |
| 1:1480866:G:GA | acceptor_gain | 1.0000 |
| 1:1480866:GC:G | acceptor_gain | 1.0000 |
| 1:1480866:GCA:G | acceptor_gain | 1.0000 |
| 1:1480921:G:GT | donor_gain | 1.0000 |
| 1:1480932:GCGAG:G | donor_gain | 1.0000 |
| 1:1480933:CGAGG:C | donor_loss | 1.0000 |
| 1:1480936:GGT:G | donor_loss | 1.0000 |
| 1:1480937:G:GA | donor_loss | 1.0000 |
| 1:1480938:T:A | donor_loss | 1.0000 |
| 1:1482130:T:TA | acceptor_gain | 1.0000 |
| 1:1482131:G:A | acceptor_gain | 1.0000 |
AlphaMissense
4189 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:1472065:G:C | A61P | 0.994 |
| 1:1472032:T:C | F50L | 0.993 |
| 1:1472034:C:A | F50L | 0.993 |
| 1:1472034:C:G | F50L | 0.993 |
| 1:1472060:C:A | A59D | 0.993 |
| 1:1472057:C:A | A58D | 0.992 |
| 1:1472059:G:C | A59P | 0.989 |
| 1:1479052:G:C | A130P | 0.989 |
| 1:1472068:G:C | A62P | 0.988 |
| 1:1472033:T:G | F50C | 0.987 |
| 1:1472054:G:C | R57P | 0.987 |
| 1:1478653:G:C | A98P | 0.987 |
| 1:1472056:G:C | A58P | 0.986 |
| 1:1472048:T:C | L55P | 0.984 |
| 1:1472052:G:C | E56D | 0.982 |
| 1:1472052:G:T | E56D | 0.982 |
| 1:1472053:C:A | R57S | 0.982 |
| 1:1479077:G:C | R138P | 0.982 |
| 1:1472048:T:A | L55Q | 0.981 |
| 1:1472078:T:C | L65P | 0.981 |
| 1:1472036:A:G | D51G | 0.979 |
| 1:1472033:T:C | F50S | 0.978 |
| 1:1472072:G:C | R63P | 0.978 |
| 1:1477298:T:C | L77P | 0.978 |
| 1:1472069:C:A | A62E | 0.977 |
| 1:1479073:G:C | A137P | 0.977 |
| 1:1479083:G:C | R140P | 0.975 |
| 1:1477288:G:C | A74P | 0.972 |
| 1:1472045:G:A | G54D | 0.970 |
| 1:1477300:G:C | A78P | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000000509 (1:1478185 A>T), RS1000060324 (1:1484097 A>C), RS1000185539 (1:1492755 T>G), RS1000195426 (1:1492903 C>T), RS1000305309 (1:1489526 A>C,G), RS1000387546 (1:1483300 C>G,T), RS1000404303 (1:1509494 T>G), RS1000521197 (1:1491848 T>A), RS1000555785 (1:1502213 T>C), RS1000735765 (1:1488913 C>G,T), RS1000802277 (1:1489645 C>T), RS1000834021 (1:1502502 C>A), RS1000882515 (1:1498574 C>G,T), RS1000922593 (1:1474420 G>A), RS1001060216 (1:1470109 T>G)
Disease associations
OMIM: gene MIM:612317 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_34 | Body mass index | 3.000000e-08 |
| GCST010682_1 | Graft survival time in renal transplantation (donor effect) x APOL1 genotype interaction | 7.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0005199 | renal transplant outcome measurement |
| EFO:0007892 | donor genotype effect measurement |
| EFO:0009324 | APOL1 risk genotype carrier status |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067438 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.73 | Kd | 18.59 | nM | CHEMBL5653589 |
| 7.72 | ED50 | 18.83 | nM | CHEMBL5653589 |
| 7.10 | Kd | 79.89 | nM | CHEMBL3752910 |
| 7.09 | ED50 | 80.94 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147901: Binding affinity to human ATAD3B incubated for 45 mins by Kinobead based pull down assay | kd | 0.0186 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147901: Binding affinity to human ATAD3B incubated for 45 mins by Kinobead based pull down assay | kd | 0.0799 | uM |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 4 |
| bisphenol A | decreases expression, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| afuresertib | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| lead acetate | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| cupric chloride | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arbutin | decreases expression | 1 |
| Clozapine | increases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650943 | Binding | Binding affinity to human ATAD3B incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.