NABP2
gene geneOn this page
Also known as MGC2731SSB1hSSB1SOSS-B1
Summary
NABP2 (nucleic acid binding protein 2, HGNC:28412) is a protein-coding gene on chromosome 12q13.3, encoding SOSS complex subunit B1 (Q9BQ15). Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint.
Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).
Source: NCBI Gene 79035 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 23 total
- Druggable target: yes
- MANE Select transcript:
NM_024068
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28412 |
| Approved symbol | NABP2 |
| Name | nucleic acid binding protein 2 |
| Location | 12q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2731, SSB1, hSSB1, SOSS-B1 |
| Ensembl gene | ENSG00000139579 |
| Ensembl biotype | protein_coding |
| OMIM | 612104 |
| Entrez | 79035 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 retained_intron
ENST00000267023, ENST00000341463, ENST00000380198, ENST00000399713, ENST00000447747, ENST00000479016, ENST00000882054, ENST00000882055, ENST00000934237, ENST00000934238, ENST00000934239, ENST00000934240, ENST00000934241, ENST00000934242, ENST00000959362
RefSeq mRNA: 1 — MANE Select: NM_024068
NM_024068
CCDS: CCDS8911
Canonical transcript exons
ENST00000267023 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000938855 | 56226179 | 56226260 |
| ENSE00000938856 | 56226356 | 56226419 |
| ENSE00001417709 | 56224342 | 56224441 |
| ENSE00001481497 | 56229014 | 56229854 |
| ENSE00001554507 | 56224834 | 56224935 |
| ENSE00003586500 | 56225624 | 56225695 |
| ENSE00003677734 | 56225373 | 56225511 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 92.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.6751 / max 186.0038, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 126090 | 35.0034 | 1815 |
| 126088 | 2.2460 | 1116 |
| 126089 | 0.4258 | 199 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 92.57 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.52 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.51 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.18 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.97 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.85 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.81 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.71 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.67 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.53 | gold quality |
| muscle of leg | UBERON:0001383 | 91.35 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.34 | gold quality |
| putamen | UBERON:0001874 | 91.33 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.05 | gold quality |
| amygdala | UBERON:0001876 | 90.73 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.54 | gold quality |
| ventricular zone | UBERON:0003053 | 90.49 | gold quality |
| adrenal gland | UBERON:0002369 | 90.21 | gold quality |
| neocortex | UBERON:0001950 | 90.20 | gold quality |
| frontal cortex | UBERON:0001870 | 90.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.97 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.93 | gold quality |
| body of pancreas | UBERON:0001150 | 89.38 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.35 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.29 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 253.96 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting NABP2, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-4769-3P | 97.95 | 68.17 | 1002 |
| HSA-MIR-6817-5P | 97.95 | 67.86 | 1026 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
Literature-anchored findings (GeneRIF, showing 13)
- Cells deficient in hSSB1 exhibit increased radiosensitivity, defective checkpoint activation and enhanced genomic instability coupled with a diminished capacity for DNA repair. (PMID:18449195)
- hSSB1 and hSSB2 form two separate complexes with similar structures, and both complexes participate in DNA damage response. (PMID:19605351)
- INTS3 controls the SSB1-mediated DNA damage response. (PMID:19786574)
- SOSS complexes, containing SSB1, do not localize with Replication Protein A (RPA) to replication sites in human cells, yet have a strong effect on double-strand break resection and homologous recombination. (PMID:23178594)
- Identification of EEf1E1 and OBFC2B as novel BRCA1-partner genes in the DNA double-strand break repair pathway. (PMID:24104880)
- The findings demonstrate the importance of hSSB1 in maintaining and repairing DNA replication forks and for overall genomic stability. (PMID:24753408)
- In the absence of hSSB1, human 8-oxoguanine glycosylase 1 does not localize to chromatin, resulting in the accumulation of 8-oxoguanine in the genome. (PMID:26261212)
- findings demonstrate a novel hSSB1 regulatory mechanism for the repair of damaged DNA (PMID:27273218)
- the detailed molecular mechanism in solution of ssDNA binding by hSSB1, a major player in the maintenance of genomic stability, is reported. (PMID:27387285)
- Our data highlights that BLM helicase and hSSB1 function in a dynamic complex in cells and that this complex is likely required for BLM protein stability and function. (PMID:28506294)
- Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5. (PMID:34270706)
- Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces. (PMID:34464898)
- hSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer. (PMID:36811381)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nabp2 | ENSDARG00000090976 |
| mus_musculus | Nabp2 | ENSMUSG00000025374 |
| rattus_norvegicus | Nabp2 | ENSRNOG00000023480 |
Paralogs (1): NABP1 (ENSG00000173559)
Protein
Protein identifiers
SOSS complex subunit B1 — Q9BQ15 (reviewed: Q9BQ15)
Alternative names: Nucleic acid-binding protein 2, Oligonucleotide/oligosaccharide-binding fold-containing protein 2B, Sensor of single-strand DNA complex subunit B1, Sensor of ssDNA subunit B1, Single-stranded DNA-binding protein 1
All UniProt accessions (3): Q9BQ15, C9JMP5, C9JT95
UniProt curated annotations — full annotation on UniProt →
Function. Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways.
Subunit / interactions. Component of the SOSS complex, composed of SOSS-B (SOSS-B1/NABP2 or SOSS-B2/NABP1), SOSS-A/INTS3 and SOSS-C/INIP. SOSS complexes containing SOSS-B1/NABP2 are more abundant than complexes containing SOSS-B2/NABP1. Directly interacts with ATM, SOSS-A/INTS3 and RAD51. Interacts with INTS7.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylated by ATM in response to DNA damage. Phosphorylation prevents degradation by the proteasome, hence stabilization of the protein and accumulation within cells. Ubiquitinated in a FBXL5-dependent manner, leading to proteasomal degradation.
Similarity. Belongs to the SOSS-B family. SOSS-B1 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BQ15-1 | 1 | yes |
| Q9BQ15-2 | 2 |
RefSeq proteins (1): NP_076973* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR048970 | OB_Ssb-like | Domain |
| IPR051231 | SOSS-B | Family |
Pfam: PF21473
UniProt features (18 total): strand 7, helix 2, compositionally biased region 2, mutagenesis site 2, chain 1, DNA-binding region 1, region of interest 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4OWT | X-RAY DIFFRACTION | 2 |
| 4OWW | X-RAY DIFFRACTION | 2.3 |
| 4OWX | X-RAY DIFFRACTION | 2.3 |
| 5D8F | X-RAY DIFFRACTION | 2.35 |
| 5D8E | X-RAY DIFFRACTION | 3 |
| 8RBZ | ELECTRON MICROSCOPY | 3.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQ15-F1 | 77.84 | 0.53 |
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): 117
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 117 | loss of phosphorylation by atm. |
| 117 | enhances atm-dependent signaling. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 178 (showing top):
E2F_Q4, GOBP_CHROMOSOME_ORGANIZATION, GOBP_RESPONSE_TO_IONIZING_RADIATION, E2F4DP1_01, GOBP_TELOMERE_CAPPING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_TELOMERE_ORGANIZATION, TAL1ALPHAE47_01, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, LHX3_01, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, PAX8_B
GO Biological Process (7): double-strand break repair via homologous recombination (GO:0000724), DNA repair (GO:0006281), DNA damage response (GO:0006974), response to ionizing radiation (GO:0010212), mitotic G2/M transition checkpoint (GO:0044818), establishment of protein localization to telomere (GO:0070200), positive regulation of telomere capping (GO:1904355)
GO Molecular Function (5): DNA binding (GO:0003677), single-stranded DNA binding (GO:0003697), DNA polymerase binding (GO:0070182), G-rich strand telomeric DNA binding (GO:0098505), protein binding (GO:0005515)
GO Cellular Component (6): chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), site of double-strand break (GO:0035861), SOSS complex (GO:0070876)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| recombinational repair | 1 |
| double-strand break repair | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| response to radiation | 1 |
| mitotic cell cycle checkpoint signaling | 1 |
| negative regulation of G2/M transition of mitotic cell cycle | 1 |
| establishment of protein localization to chromosome | 1 |
| telomere capping | 1 |
| positive regulation of telomere maintenance | 1 |
| regulation of telomere capping | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| enzyme binding | 1 |
| single-stranded telomeric DNA binding | 1 |
| binding | 1 |
| chromosomal region | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| site of DNA damage | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
732 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NABP2 | INTS3 | Q68E01 | 894 |
| NABP2 | INIP | Q9NRY2 | 867 |
| NABP2 | ATM | Q13315 | 697 |
| NABP2 | SSBP1 | Q04837 | 505 |
| NABP2 | LRRC40 | Q9H9A6 | 456 |
| NABP2 | SHISA4 | Q96DD7 | 453 |
| NABP2 | MNMIP1 | A4FU49 | 445 |
| NABP2 | SNAPC3 | Q92966 | 438 |
| NABP2 | UBE2V2 | Q15819 | 435 |
| NABP2 | LEPROTL1 | O95214 | 426 |
| NABP2 | TERT | O14746 | 424 |
| NABP2 | INTS6 | Q9UL03 | 419 |
| NABP2 | NAIF1 | Q69YI7 | 419 |
| NABP2 | KLHL15 | Q96M94 | 413 |
| NABP2 | ABRAXAS1 | Q6UWZ7 | 411 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| NABP2 | INTS3 | psi-mi:“MI:0914”(association) | 0.810 |
| INTS3 | NABP2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| INTS3 | NABP2 | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| NABP2 | INTS3 | psi-mi:“MI:0915”(physical association) | 0.810 |
| BLM | RPA2 | psi-mi:“MI:0914”(association) | 0.640 |
| INIP | INTS3 | psi-mi:“MI:0914”(association) | 0.630 |
| INTS3 | NABP1 | psi-mi:“MI:0914”(association) | 0.620 |
| CDKN1A | NABP2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| CDKN1A | NABP2 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| NABP2 | CDKN1A | psi-mi:“MI:0915”(physical association) | 0.620 |
| NABP2 | CDKN1A | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| ATM | NABP2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| NABP2 | ATM | psi-mi:“MI:0915”(physical association) | 0.600 |
| ATM | NABP2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.600 |
| BLM | NABP2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| NABP2 | BLM | psi-mi:“MI:0914”(association) | 0.540 |
| NABP2 | BLM | psi-mi:“MI:0403”(colocalization) | 0.540 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| RAD51 | NABP2 | psi-mi:“MI:0915”(physical association) | 0.460 |
| NABP2 | RAD51 | psi-mi:“MI:0403”(colocalization) | 0.460 |
BioGRID (111): SKP1 (Affinity Capture-Western), CUL1 (Affinity Capture-Western), NABP2 (Affinity Capture-Western), FBXL5 (Affinity Capture-Western), FBXL5 (Reconstituted Complex), NABP2 (Affinity Capture-MS), INIP (Co-fractionation), INTS3 (Co-fractionation), MTCH1 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), VPS41 (Affinity Capture-MS), VPS4A (Affinity Capture-MS), LUC7L3 (Affinity Capture-MS), GATAD2A (Affinity Capture-MS), CENPJ (Affinity Capture-MS)
ESM2 similar proteins: A5D7P8, A6QLK2, F1LQ48, O55047, O95628, P25916, P35226, P59326, P97855, Q08CW1, Q0VCY1, Q0VCZ3, Q12906, Q13148, Q13283, Q1ECX4, Q32KX7, Q32LC7, Q3SWT1, Q3ZBD9, Q4R5D9, Q5FVP2, Q5PRC7, Q5R601, Q5R8L2, Q5RB87, Q5SDR3, Q5U2U0, Q5ZLN5, Q64213, Q66K94, Q6DE02, Q6NRF9, Q86UE8, Q8BGW5, Q8BT14, Q8C0V0, Q8R2Y9, Q90ZY6, Q91YT7
Diamond homologs: A5D7P8, A6QLK2, Q3SWT1, Q54X41, Q5FVP2, Q5PRC7, Q66K94, Q6DE02, Q6NRF9, Q8BGW5, Q8R2Y9, Q96AH0, Q9BQ15, Q9VM17
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FBXL5 | “down-regulates quantity by destabilization” | NABP2 | binding |
| “Cullin 1-RBX1-Skp1” | “down-regulates quantity by destabilization” | NABP2 | polyubiquitination |
| ATM | “up-regulates activity” | NABP2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| TP53 Regulates Transcription of DNA Repair Genes | 5 | 34.9× | 3e-05 |
| Meiotic recombination | 6 | 29.9× | 5e-06 |
| RNA polymerase II transcribes snRNA genes | 5 | 29.7× | 4e-05 |
| G2/M DNA damage checkpoint | 5 | 23.1× | 8e-05 |
| Processing of DNA double-strand break ends | 5 | 22.0× | 8e-05 |
| Transcriptional Regulation by TP53 | 8 | 19.1× | 9e-07 |
| Estrogen-dependent gene expression | 5 | 14.5× | 3e-04 |
| Diseases of signal transduction by growth factor receptors and second messengers | 6 | 13.1× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| response to ionizing radiation | 5 | 62.3× | 2e-06 |
| double-strand break repair via homologous recombination | 8 | 37.8× | 8e-09 |
| DNA damage response | 9 | 14.6× | 1e-06 |
| DNA repair | 6 | 11.6× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
736 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:56225361:T:TA | acceptor_gain | 1.0000 |
| 12:56225366:C:CA | acceptor_gain | 1.0000 |
| 12:56225369:TCA:T | acceptor_loss | 1.0000 |
| 12:56225370:CA:C | acceptor_loss | 1.0000 |
| 12:56225371:A:AG | acceptor_gain | 1.0000 |
| 12:56225371:A:G | acceptor_loss | 1.0000 |
| 12:56225371:AG:A | acceptor_gain | 1.0000 |
| 12:56225371:AGGCC:A | acceptor_gain | 1.0000 |
| 12:56225372:G:C | acceptor_loss | 1.0000 |
| 12:56225372:G:GA | acceptor_gain | 1.0000 |
| 12:56225372:GG:G | acceptor_gain | 1.0000 |
| 12:56225372:GGC:G | acceptor_gain | 1.0000 |
| 12:56225372:GGCC:G | acceptor_gain | 1.0000 |
| 12:56225372:GGCCG:G | acceptor_gain | 1.0000 |
| 12:56225507:AAAGG:A | donor_gain | 1.0000 |
| 12:56225508:AAGG:A | donor_gain | 1.0000 |
| 12:56225509:AGG:A | donor_gain | 1.0000 |
| 12:56225509:AGGG:A | donor_loss | 1.0000 |
| 12:56225510:GG:G | donor_gain | 1.0000 |
| 12:56225510:GGG:G | donor_gain | 1.0000 |
| 12:56225511:GG:G | donor_gain | 1.0000 |
| 12:56225511:GGT:G | donor_loss | 1.0000 |
| 12:56225512:G:GG | donor_gain | 1.0000 |
| 12:56225619:CATA:C | acceptor_loss | 1.0000 |
| 12:56225621:TA:T | acceptor_loss | 1.0000 |
| 12:56225622:A:AG | acceptor_gain | 1.0000 |
| 12:56225622:A:C | acceptor_loss | 1.0000 |
| 12:56225623:G:GG | acceptor_gain | 1.0000 |
| 12:56225691:GGAGA:G | donor_gain | 1.0000 |
| 12:56225692:GAGA:G | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000092052 (12:56227004 G>A), RS1000585678 (12:56221599 T>C), RS1001123944 (12:56221792 T>C), RS1001575802 (12:56224593 T>A,C,G), RS1001938558 (12:56228052 C>T), RS1002043517 (12:56221266 T>C), RS1002370987 (12:56227722 G>A,T), RS1002581621 (12:56226505 C>A), RS1003140091 (12:56224622 G>A,T), RS1003633951 (12:56225849 G>C), RS1004036966 (12:56227680 G>A), RS1004089163 (12:56227930 C>T), RS1004199387 (12:56221427 C>T), RS1005044246 (12:56228934 T>C), RS1005096750 (12:56229389 A>G)
Disease associations
OMIM: gene MIM:612104 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_217 | Refractive error | 6.000000e-174 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4742316 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| 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 reaction, increases acetylation, decreases expression, increases ubiquitination | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | increases acetylation, decreases ubiquitination, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Vehicle Emissions | affects expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Etoposide | decreases reaction, increases acetylation | 1 |
| Lead | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Niacinamide | increases acetylation, decreases ubiquitination, increases reaction | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | affects expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL4713758 | Binding | Protac activity at CRBN/NABP2 in human BxPC-3 cells assessed as NABP2 degradation incubated for 16 hrs by proteomic analysis | Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3BR | Abcam HEK293T NABP2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.