HMGN5
gene geneOn this page
Summary
HMGN5 (high mobility group nucleosome binding domain 5, HGNC:8013) is a protein-coding gene on chromosome Xq21.1, encoding High mobility group nucleosome-binding domain-containing protein 5 (P82970). Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction.
This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein.
Source: NCBI Gene 79366 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 64 total — 1 pathogenic
- MANE Select transcript:
NM_030763
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8013 |
| Approved symbol | HMGN5 |
| Name | high mobility group nucleosome binding domain 5 |
| Location | Xq21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000198157 |
| Ensembl biotype | protein_coding |
| OMIM | 300385 |
| Entrez | 79366 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000358130, ENST00000373250, ENST00000430960, ENST00000436386, ENST00000447319, ENST00000451455, ENST00000491275, ENST00000883543, ENST00000883544, ENST00000883545, ENST00000883546, ENST00000883547, ENST00000883548, ENST00000916825, ENST00000916826, ENST00000916827, ENST00000916828, ENST00000916829, ENST00000916830, ENST00000916831, ENST00000966202, ENST00000966203, ENST00000966204, ENST00000966205, ENST00000966206, ENST00000966207
RefSeq mRNA: 1 — MANE Select: NM_030763
NM_030763
CCDS: CCDS14448
Canonical transcript exons
ENST00000358130 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001401828 | 81113699 | 81115230 |
| ENSE00001407782 | 81121535 | 81121672 |
| ENSE00001679518 | 81201737 | 81201913 |
| ENSE00001770506 | 81118730 | 81118759 |
| ENSE00003506379 | 81118432 | 81118485 |
| ENSE00003517004 | 81119788 | 81119817 |
| ENSE00003786792 | 81116204 | 81116341 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 97.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0168 / max 868.3864, expressed in 1298 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199849 | 4.9800 | 848 |
| 199850 | 2.9240 | 731 |
| 199852 | 1.3059 | 512 |
| 199848 | 0.4040 | 182 |
| 199851 | 0.4028 | 208 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 97.88 | gold quality |
| right testis | UBERON:0004534 | 97.17 | gold quality |
| left testis | UBERON:0004533 | 96.77 | gold quality |
| testis | UBERON:0000473 | 95.21 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.55 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.98 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.60 | gold quality |
| spinal cord | UBERON:0002240 | 89.09 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.99 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.60 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.57 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.45 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.28 | gold quality |
| ventricular zone | UBERON:0003053 | 88.17 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.96 | gold quality |
| amygdala | UBERON:0001876 | 87.37 | gold quality |
| pituitary gland | UBERON:0000007 | 87.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.99 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.91 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.47 | gold quality |
| adrenal cortex | UBERON:0001235 | 86.39 | gold quality |
| adrenal gland | UBERON:0002369 | 86.35 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.12 | gold quality |
| left ovary | UBERON:0002119 | 85.64 | gold quality |
| rectum | UBERON:0001052 | 85.53 | gold quality |
| left uterine tube | UBERON:0001303 | 85.39 | gold quality |
| hypothalamus | UBERON:0001898 | 85.31 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.29 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 140.50 |
| E-HCAD-6 | yes | 42.36 |
| E-GEOD-134144 | yes | 33.52 |
| E-ANND-3 | yes | 8.98 |
| E-MTAB-6524 | no | 234.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting HMGN5, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
Literature-anchored findings (GeneRIF, showing 30)
- The structure of the HMGN5 gene and the known properties of the HMGN5 protein, are described. (PMID:20123071)
- A positive correlation was observed between NSBP1 expression and cell proliferation and apoptosis in DU145 cells. (PMID:20531280)
- The data of study suggested that HMGN5 may play a critical role in the development of gliomas. (PMID:21373965)
- HMGN5 has a highly disordered structure, binds dynamically to nucleosome core particles, modulates the binding of H1 to chromatin, reduces the compaction of the chromatin fiber, and affects transcription. (PMID:21518955)
- these results suggest that NSBP1 promotes the viability of bladder cancer cells through increased cell proliferation (PMID:21695596)
- NSBP1 plays oncogenic role in clear cell renal cell carcinoma (ccRCC) by promoting cell proliferation and invasion. (PMID:22420896)
- HMGN5 may be a potential molecular target with therapeutic relevance for the treatment of prostate cancer. (PMID:22504871)
- HMGN5 silencing to significantly inhibit A549 and H1299 cell proliferation. (PMID:22994738)
- Data indicate that cells lacking either high mobility group protein N5 (HMGN5) and lamina-associated polypeptide 2alpha (LAP2alpha) showed that loss of either protein affects the genome-wide distribution of the remaining partner. (PMID:23673662)
- HMGN5 is a critical factor in the development of chemoresistance through regulating autophagy, and it offers a novel target for improving osteosarcoma therapy. (PMID:24664583)
- HMGN5 plays oncogenic role in osteosarcoma by promoting cell proliferation and invasion, and could be exploited as a target for therapy in osteosarcoma. (PMID:24687550)
- HMGN5 knockdown sensitizes prostate cancer cells to ionizing radiation (PMID:25307178)
- HMGN5 plays an oncogenic role in human breast cancer by inhibiting cell proliferation and invasion, and activating apoptosis, which could be exploited as a target for therapy in human breast cancer. (PMID:25315189)
- HMGN5 is an oncogene and plays an important role in prostate cancer tumorigenesis and progression. the level of HMGN5 may be used as a biomarker to predict the patients that would benefit from gemcitabine treatment. (PMID:25572120)
- High HMGN5 expression is associated with urothelial bladder cancer. (PMID:25796505)
- Our data first time identified miR-186 as the upstream regulator of NSBP1 (PMID:26290438)
- HMGN5 overexpression is correlated with advanced pathological grade and poorer prognosis in meningiomas (PMID:26315299)
- Decreased miR-340 expression may contribute to the development and progression of prostate cancer through a mechanism that involves HMGN5. (PMID:26394192)
- NSBP1 was highly expressed in NSCLC cells. NSBP1 siRNA knockdown suppressed NSCLC cell proliferation and invasion. miR326 has a putative binding site in the NSBP1 3’UTR. NSBP1 overexpression abolished miR326 inhibition of cyclin B1 and MMP9 expression. (PMID:26548724)
- We observed decreased miR-409-3p expression in glioma, and overexpression of miR-409-3p repressed glioma cell invasion and proliferation by targeting HMGN5, an oncogene associated with glioma (PMID:28109076)
- Findings suggest that a miR-140-5p/HMGN5/autophagy regulatory loop plays a critical role in chemoresistance in osteosarcoma. In conclusion, our data elucidated that miR-140-5p promoted autophagy mediated by HMGN5 and sensitized osteosarcoma cells to chemotherapy. (PMID:28341864)
- High HMGN5 expression is associated with osteosarcoma invasion. (PMID:28627703)
- HMGN5 regulated the expression of multidrug resistance 1, cyclin B1, and Bcl-2. (PMID:28914995)
- HMGN5 mRNA levels were significantly elevated in bladder transitional cell carcinoma tissue compared to controls. (PMID:29509244)
- MiR-183-3p regulated HMGN5 expression in prostate cancer cells. (PMID:31314587)
- HIF1A upregulated the transcription factor GATA1 and further promoted the expression of HMGN5. (PMID:31930127)
- HMGN5 Silencing Suppresses Cell Biological Progression via AKT/MAPK Pathway in Human Glioblastoma Cells. (PMID:32596388)
- Prognostic value of HMGN family expression in acute myeloid leukemia. (PMID:33467898)
- HMGN5 promotes invasion and migration of colorectal cancer through activating FGF/FGFR pathway. (PMID:33629303)
- Spatial and Temporal Expression of High-Mobility-Group Nucleosome-Binding (HMGN) Genes in Brain Areas Associated with Cognition in Individuals with Down Syndrome. (PMID:34946949)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Hmgn5 | ENSMUSG00000031245 |
| rattus_norvegicus | Hmgn5 | ENSRNOG00000029078 |
| rattus_norvegicus | ENSRNOG00000064141 | |
| rattus_norvegicus | Hmgn5b | ENSRNOG00000065214 |
Protein
Protein identifiers
High mobility group nucleosome-binding domain-containing protein 5 — P82970 (reviewed: P82970)
Alternative names: Nucleosome-binding protein 1
All UniProt accessions (6): P82970, Q5JSK6, Q5JSK7, Q5JSK8, Q5JSK9, Q5JSL0
UniProt curated annotations — full annotation on UniProt →
Function. Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed.
Domain organisation. Specifically targeted by its C-terminus to nucleosomes in euchromatin.
Similarity. Belongs to the HMGN family.
RefSeq proteins (1): NP_110390* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000079 | HMGN_fam | Family |
| IPR040164 | HMGN5 | Family |
Pfam: PF01101
UniProt features (16 total): compositionally biased region 7, cross-link 4, modified residue 3, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82970-F1 | 52.89 | 0.00 |
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 (7): 76, 93, 67, 101, 101, 124, 31
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 166 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, MODULE_255, MODULE_317, RODRIGUES_NTN1_TARGETS_UP, KOYAMA_SEMA3B_TARGETS_UP, AACTTT_UNKNOWN, LEF1_Q6, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, VECCHI_GASTRIC_CANCER_EARLY_DN, HAN_SATB1_TARGETS_DN, GATA4_Q3, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, BERENJENO_TRANSFORMED_BY_RHOA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, AR_01
GO Biological Process (6): chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), positive regulation of cell population proliferation (GO:0008284), positive regulation of gene expression (GO:0010628), negative regulation of apoptotic process (GO:0043066), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (4): chromatin binding (GO:0003682), RNA binding (GO:0003723), nucleosomal DNA binding (GO:0031492), DNA binding (GO:0003677)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| regulation of gene expression | 2 |
| nucleic acid binding | 2 |
| cellular anatomical structure | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular component organization | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| binding | 1 |
| chromatin DNA binding | 1 |
| nucleosome binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HMGN5 | HMGN1 | P05114 | 956 |
| HMGN5 | HMGN2 | P05204 | 905 |
| HMGN5 | ZNF219 | Q9P2Y4 | 750 |
| HMGN5 | H1-0 | P07305 | 581 |
| HMGN5 | HMGN3 | Q15651 | 579 |
| HMGN5 | TSGA10 | Q9BZW7 | 522 |
| HMGN5 | F2Z2I4 | F2Z2I4 | 494 |
| HMGN5 | SPATA19 | Q7Z5L4 | 464 |
| HMGN5 | HMGN4 | O00479 | 453 |
| HMGN5 | TCEA2 | Q15560 | 446 |
| HMGN5 | PSME3IP1 | Q9GZU8 | 436 |
| HMGN5 | GLS2 | Q9UI32 | 417 |
| HMGN5 | TSPY1 | P09002 | 411 |
| HMGN5 | H1-3 | P16402 | 402 |
| HMGN5 | HDAC4 | P56524 | 397 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HGS | STAM2 | psi-mi:“MI:0914”(association) | 0.550 |
| SNRNP27 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| USP47 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| CYP1A1 | SNX3 | psi-mi:“MI:0914”(association) | 0.530 |
| DLGAP4 | HMGN5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HMGN5 | HNRNPCL2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HMGN5 | NOTCH1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GTF2E2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGEF19 | NUP42 | psi-mi:“MI:0914”(association) | 0.350 |
| FGD1 | MECP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX8 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| HMGN5 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GTF2E2 | STX7 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL35A | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA2 | HGS | psi-mi:“MI:0914”(association) | 0.350 |
| USP47 | LAMTOR5 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL20 | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
| B3GALT2 | LIG1 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| PPIL4 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RPS11 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (166): HMGN5 (Co-fractionation), HMGN5 (Co-fractionation), HMGN5 (Co-fractionation), HMGN5 (Co-fractionation), HMGN5 (Co-fractionation), HMGN5 (Affinity Capture-MS), HMGN5 (Affinity Capture-MS), HMGN5 (Affinity Capture-MS), HMGN5 (Affinity Capture-MS), HMGN5 (Two-hybrid), HMGN5 (Affinity Capture-MS), HMGN5 (Affinity Capture-MS), HMGN5 (Proximity Label-MS), DLGAP4 (Proximity Label-MS), HMGN5 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D9BZF0, A0A571BEE2, A6H8Y1, A8MU46, B3EWZ0, B4F777, D3YVF0, F4K4Y5, O01949, O43493, O43719, O46383, O81283, P08116, P13816, P24587, P27058, P27123, P43597, P48785, P53911, P82970, Q01033, Q10P83, Q14093, Q17Q32, Q28092, Q5H9L2, Q5MJ10, Q5RB63, Q5XHX6, Q6AXX0, Q6P902, Q6SJ82, Q84JB7, Q8BGC0, Q8IZU1, Q8VYD2, Q9D498, Q9FGW9
Diamond homologs: B4F777, P82970, Q9JL35, O00479, P02314, P02316, P05114, P05204, P12274, P12902, P18608, Q15651, Q3ZBV4, Q5R715, Q66H40, Q9DCB1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 154612 | GRCh38/hg38 Xq21.1(chrX:80921556-83715625)x0 | Pathogenic |
SpliceAI
916 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:81115226:GGTGC:G | acceptor_gain | 1.0000 |
| X:81115227:GTGC:G | acceptor_gain | 1.0000 |
| X:81115228:TGC:T | acceptor_gain | 1.0000 |
| X:81115229:GC:G | acceptor_gain | 1.0000 |
| X:81115229:GCCT:G | acceptor_loss | 1.0000 |
| X:81115230:CC:C | acceptor_gain | 1.0000 |
| X:81115231:C:A | acceptor_loss | 1.0000 |
| X:81115231:C:CC | acceptor_gain | 1.0000 |
| X:81115233:G:GC | acceptor_gain | 1.0000 |
| X:81115237:G:C | acceptor_gain | 1.0000 |
| X:81115237:G:GC | acceptor_gain | 1.0000 |
| X:81115239:A:AC | acceptor_gain | 1.0000 |
| X:81115239:A:C | acceptor_gain | 1.0000 |
| X:81115242:G:C | acceptor_gain | 1.0000 |
| X:81115242:G:GC | acceptor_gain | 1.0000 |
| X:81116200:ATACC:A | donor_loss | 1.0000 |
| X:81116202:A:AC | donor_gain | 1.0000 |
| X:81116203:C:CC | donor_gain | 1.0000 |
| X:81116203:CCT:C | donor_gain | 1.0000 |
| X:81116205:T:TA | donor_gain | 1.0000 |
| X:81116337:ATTTT:A | acceptor_gain | 1.0000 |
| X:81116338:TTTT:T | acceptor_gain | 1.0000 |
| X:81116339:TTT:T | acceptor_gain | 1.0000 |
| X:81116340:TT:T | acceptor_gain | 1.0000 |
| X:81116342:C:CC | acceptor_gain | 1.0000 |
| X:81116342:CTG:C | acceptor_loss | 1.0000 |
| X:81116343:T:C | acceptor_loss | 1.0000 |
| X:81116346:C:CT | acceptor_gain | 1.0000 |
| X:81116346:C:T | acceptor_gain | 1.0000 |
| X:81116347:A:T | acceptor_gain | 1.0000 |
AlphaMissense
1904 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:81121538:T:A | R4S | 0.985 |
| X:81121538:T:G | R4S | 0.985 |
| X:81118751:T:A | R18S | 0.984 |
| X:81118751:T:G | R18S | 0.984 |
| X:81118748:T:A | R19S | 0.983 |
| X:81118748:T:G | R19S | 0.983 |
| X:81118739:C:A | R22S | 0.977 |
| X:81118739:C:G | R22S | 0.977 |
| X:81118749:C:G | R19T | 0.965 |
| X:81118752:C:G | R18T | 0.961 |
| X:81118740:C:G | R22T | 0.959 |
| X:81121539:C:G | R4T | 0.959 |
| X:81118740:C:A | R22M | 0.956 |
| X:81118737:A:G | L23S | 0.955 |
| X:81121541:T:A | K3N | 0.944 |
| X:81121541:T:G | K3N | 0.944 |
| X:81118743:G:T | A21D | 0.938 |
| X:81121545:G:T | P2H | 0.938 |
| X:81121535:C:A | K5N | 0.935 |
| X:81121535:C:G | K5N | 0.935 |
| X:81118741:T:C | R22G | 0.933 |
| X:81118754:C:A | K17N | 0.930 |
| X:81118754:C:G | K17N | 0.930 |
| X:81118750:T:C | R19G | 0.917 |
| X:81121545:G:A | P2L | 0.907 |
| X:81121539:C:A | R4I | 0.905 |
| X:81118749:C:A | R19I | 0.904 |
| X:81118753:T:C | R18G | 0.897 |
| X:81118746:G:A | S20F | 0.896 |
| X:81118737:A:C | L23W | 0.893 |
dbSNP variants (sampled 300 via entrez): RS1000071236 (X:81199650 G>A,T), RS1000077159 (X:81150004 A>G), RS1000124749 (X:81198847 T>C), RS1000178528 (X:81189775 G>A), RS1000208398 (X:81143792 G>T), RS1000215737 (X:81175225 G>A), RS1000244597 (X:81198737 G>A), RS1000284967 (X:81118348 A>C), RS1000313802 (X:81188672 T>C), RS1000341392 (X:81182319 T>A,C), RS1000374037 (X:81169336 A>G), RS1000374952 (X:81179199 C>T), RS1000381743 (X:81125946 G>C), RS1000402966 (X:81119523 G>C), RS1000426721 (X:81198475 T>C)
Disease associations
OMIM: gene MIM:300385 | 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_94 | Refractive error | 2.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, increases expression, affects expression | 5 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| ochratoxin A | affects cotreatment, decreases expression, increases expression | 2 |
| Cadmium | decreases expression, increases abundance | 2 |
| Estradiol | affects expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases expression, increases abundance | 1 |
| pentanal | increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | decreases reaction, increases activity, decreases response to substance | 1 |
| Citrinin | affects cotreatment, decreases expression | 1 |
| Copper | affects binding, decreases 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_A4Y4 | SEES3-1V human NSBP1, clone1 | Embryonic stem cell | Male |
| CVCL_A4Y5 | SEES3-1V human NSBP1, clone2 | Embryonic stem cell | Male |
| CVCL_A4Y6 | SEES3-1V human NSBP1, 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.