HNRNPH3
gene geneOn this page
Also known as 2H9
Summary
HNRNPH3 (heterogeneous nuclear ribonucleoprotein H3, HGNC:5043) is a protein-coding gene on chromosome 10q21.3, encoding Heterogeneous nuclear ribonucleoprotein H3 (P31942). Involved in the splicing process and participates in early heat shock-induced splicing arrest.
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized.
Source: NCBI Gene 3189 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 30 total
- Druggable target: yes
- MANE Select transcript:
NM_012207
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5043 |
| Approved symbol | HNRNPH3 |
| Name | heterogeneous nuclear ribonucleoprotein H3 |
| Location | 10q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 2H9 |
| Ensembl gene | ENSG00000096746 |
| Ensembl biotype | protein_coding |
| OMIM | 602324 |
| Entrez | 3189 |
Gene structure
Transcript identifiers
Ensembl transcripts: 66 — 57 protein_coding, 9 protein_coding_CDS_not_defined
ENST00000265866, ENST00000354695, ENST00000461310, ENST00000467249, ENST00000469172, ENST00000478698, ENST00000480987, ENST00000481819, ENST00000486854, ENST00000490442, ENST00000491200, ENST00000880278, ENST00000880279, ENST00000880280, ENST00000880281, ENST00000880282, ENST00000880283, ENST00000880284, ENST00000880285, ENST00000880286, ENST00000880287, ENST00000880288, ENST00000880289, ENST00000880290, ENST00000880291, ENST00000880292, ENST00000880293, ENST00000880294, ENST00000880295, ENST00000880296, ENST00000880297, ENST00000880298, ENST00000880299, ENST00000880300, ENST00000880301, ENST00000880302, ENST00000880303, ENST00000880304, ENST00000880305, ENST00000880306, ENST00000880307, ENST00000880308, ENST00000940766, ENST00000940767, ENST00000940768, ENST00000940769, ENST00000940770, ENST00000940771, ENST00000940772, ENST00000940773, ENST00000940774, ENST00000940775, ENST00000940776, ENST00000940777, ENST00000940778, ENST00000940779, ENST00000940780, ENST00000940781, ENST00000940782, ENST00000940783, ENST00000940784, ENST00000940785, ENST00000967049, ENST00000967050, ENST00000967051, ENST00000967052
RefSeq mRNA: 21 — MANE Select: NM_012207
NM_001322434, NM_001322436, NM_001322437, NM_001322438, NM_001322439, NM_001322440, NM_001322441, NM_001322442, NM_001322443, NM_001322444, NM_001322445, NM_001322446, NM_001322447, NM_001322448, NM_001322449, NM_001322450, NM_001322451, NM_001322452, NM_001322453, NM_012207, NM_021644
CCDS: CCDS7278, CCDS7279
Canonical transcript exons
ENST00000265866 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001881721 | 68341978 | 68343193 |
| ENSE00001899301 | 68332064 | 68332216 |
| ENSE00003461270 | 68339140 | 68339226 |
| ENSE00003478649 | 68337858 | 68337996 |
| ENSE00003571840 | 68337199 | 68337333 |
| ENSE00003584989 | 68341174 | 68341309 |
| ENSE00003603265 | 68339440 | 68339555 |
| ENSE00003611482 | 68341759 | 68341851 |
| ENSE00003650127 | 68341585 | 68341680 |
| ENSE00003689235 | 68338503 | 68338687 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 228.8531 / max 10329.0454, expressed in 1827 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 105230 | 198.7669 | 1827 |
| 105231 | 21.8518 | 1797 |
| 105237 | 2.2728 | 990 |
| 105232 | 1.6075 | 730 |
| 105238 | 1.6061 | 743 |
| 105236 | 1.0070 | 540 |
| 105234 | 1.0018 | 518 |
| 105235 | 0.5253 | 267 |
| 105240 | 0.1786 | 64 |
| 105229 | 0.0353 | 14 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.57 | gold quality |
| ventricular zone | UBERON:0003053 | 99.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.49 | gold quality |
| cortical plate | UBERON:0005343 | 99.37 | gold quality |
| embryo | UBERON:0000922 | 99.13 | gold quality |
| left ovary | UBERON:0002119 | 99.00 | gold quality |
| right ovary | UBERON:0002118 | 98.91 | gold quality |
| body of uterus | UBERON:0009853 | 98.89 | gold quality |
| ovary | UBERON:0000992 | 98.87 | gold quality |
| endocervix | UBERON:0000458 | 98.81 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.74 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.73 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.70 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.67 | gold quality |
| right testis | UBERON:0004534 | 98.64 | gold quality |
| right lung | UBERON:0002167 | 98.62 | gold quality |
| thyroid gland | UBERON:0002046 | 98.58 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.58 | gold quality |
| cerebellum | UBERON:0002037 | 98.57 | gold quality |
| left testis | UBERON:0004533 | 98.57 | gold quality |
| left uterine tube | UBERON:0001303 | 98.56 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.55 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.54 | gold quality |
| nerve | UBERON:0001021 | 98.51 | gold quality |
| tibial nerve | UBERON:0001323 | 98.51 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.49 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.48 | gold quality |
| right uterine tube | UBERON:0001302 | 98.47 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 20.85 |
| E-CURD-112 | no | 2.04 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting HNRNPH3, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
Literature-anchored findings (GeneRIF, showing 3)
- Using ORF phage display, heterogeneous nuclear ribonucleoprotein H3 (Hnrph3) was, among other candidates, identified as an autoantigen for acute anterior uveitis. (PMID:20943442)
- A novel heterogeneous nuclear ribonucleoprotein H3-ALK receptor tyrosine kinase rearrangement was found in one de novo salivary duct carcinoma (PMID:30946933)
- Long Noncoding RNA RP11-115N4.1 Promotes Inflammatory Responses by Interacting With HNRNPH3 and Enhancing the Transcription of HSP70 in Unexplained Recurrent Spontaneous Abortion. (PMID:34484222)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hnrnph3 | ENSDARG00000039466 |
| mus_musculus | Hnrnph3 | ENSMUSG00000020069 |
| rattus_norvegicus | Hnrnph3 | ENSRNOG00000048193 |
| drosophila_melanogaster | fus | FBGN0023441 |
| drosophila_melanogaster | glo | FBGN0259139 |
| caenorhabditis_elegans | WBGENE00006367 | |
| caenorhabditis_elegans | rbm-12 | WBGENE00013703 |
| caenorhabditis_elegans | WBGENE00022253 |
Paralogs (8): ESRP2 (ENSG00000103067), ESRP1 (ENSG00000104413), HNRNPH2 (ENSG00000126945), GRSF1 (ENSG00000132463), HNRNPH1 (ENSG00000169045), HNRNPF (ENSG00000169813), RBM12B (ENSG00000183808), RBM12 (ENSG00000244462)
Protein
Protein identifiers
Heterogeneous nuclear ribonucleoprotein H3 — P31942 (reviewed: P31942)
Alternative names: Heterogeneous nuclear ribonucleoprotein 2H9
All UniProt accessions (2): P31942, B4DHY1
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction.
Subcellular location. Nucleus.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P31942-1 | 1 | yes |
| P31942-2 | 2, 2H9A | |
| P31942-3 | 3, 2H9B | |
| P31942-4 | 4, 2H9C | |
| P31942-5 | 5, 2H9D | |
| P31942-6 | 6, 2H9E |
RefSeq proteins (21): NP_001309363, NP_001309365, NP_001309366, NP_001309367, NP_001309368, NP_001309369, NP_001309370, NP_001309371, NP_001309372, NP_001309373, NP_001309374, NP_001309375, NP_001309376, NP_001309377, NP_001309378, NP_001309379, NP_001309380, NP_001309381, NP_001309382, NP_036339, NP_067676 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034969 | hnRNPH3_RRM3 | Domain |
| IPR034970 | hnRNPH3_RRM2 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR050666 | ESRP | Family |
Pfam: PF00076
UniProt features (27 total): modified residue 13, splice variant 7, domain 2, cross-link 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P31942-F1 | 62.23 | 0.02 |
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 (15): 314, 323, 343, 6, 67, 116, 121, 129, 1, 121, 174, 216, 287, 296, 298
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 205 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, MULLIGHAN_NPM1_SIGNATURE_3_UP, CMYB_01, GCM_ZNF198, chr10q21, YY1_Q6, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, AAACCAC_MIR140, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MYCMAX_01, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RNA_SPLICING, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, PPARA_01
GO Biological Process (6): mRNA splicing, via spliceosome (GO:0000398), RNA processing (GO:0006396), RNA splicing (GO:0008380), epithelial cell differentiation (GO:0030855), regulation of RNA splicing (GO:0043484), mRNA processing (GO:0006397)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1786 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HNRNPH3 | HNRNPC | P07910 | 691 |
| HNRNPH3 | HNRNPM | P52272 | 687 |
| HNRNPH3 | HNRNPA1 | P09651 | 671 |
| HNRNPH3 | HNRNPAB | Q99729 | 655 |
| HNRNPH3 | HNRNPA2B1 | P22626 | 642 |
| HNRNPH3 | SRSF7 | Q16629 | 573 |
| HNRNPH3 | HNRNPDL | O14979 | 570 |
| HNRNPH3 | SYNCRIP | O60506 | 569 |
| HNRNPH3 | PTBP2 | Q9UKA9 | 530 |
| HNRNPH3 | HNRNPD | P07029 | 524 |
| HNRNPH3 | PTBP1 | P26599 | 503 |
| HNRNPH3 | HNRNPA0 | Q13151 | 497 |
| HNRNPH3 | HNRNPUL2 | Q1KMD3 | 489 |
| HNRNPH3 | SRSF3 | P23152 | 451 |
| HNRNPH3 | RALY | Q9UKM9 | 448 |
IntAct
195 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HNRNPA1 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.660 |
| USE1 | NBAS | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| tat | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| HNRNPH1 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| HNRNPH2 | PLOD2 | psi-mi:“MI:0914”(association) | 0.530 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| P/V/C | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| RBM45 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.460 |
| HNRNPH3 | APOL2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HNRNPH3 | ZMYM2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HNRNPH3 | ADORA2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPH3 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK6 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPH3 | CHERP | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPH3 | HNRNPA0 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NCBP3 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDX17 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DDX5 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPU | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPUL1 | HNRNPH3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (403): HNRNPH3 (Affinity Capture-RNA), HNRNPH3 (Affinity Capture-RNA), HNRNPH3 (Affinity Capture-RNA), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPH3 (Affinity Capture-MS), HNRNPDL (Co-fractionation), HNRNPH3 (Co-fractionation), HNRNPH3 (Co-fractionation)
ESM2 similar proteins: A0A2R8Y4L2, A5A6H4, A7VJC2, O01671, O17310, O19049, O61374, O88569, O97018, P04256, P09651, P09867, P17130, P19339, P21522, P22626, P31942, P49312, P51968, P51989, P51990, P51991, P51992, P52272, P61978, P61979, P61980, Q08473, Q13148, Q24668, Q28521, Q28F51, Q2HJ60, Q32P51, Q3T0D0, Q4R4M6, Q5R5H8, Q5R5W2, Q5RBU8, Q5ZIQ3
Diamond homologs: A1L1G1, A8WPC5, B2RYD2, B2RYJ8, O35737, P31942, P31943, P52597, P55795, P70333, Q22708, Q3SZF3, Q3US41, Q5E9J1, Q5RD26, Q5ZLR4, Q60HC3, Q6AY09, Q6DEZ7, Q6NXG1, Q794E4, Q7ZVR8, Q7ZY29, Q8C5Q4, Q8K0G8, Q8VHV7, Q9BJZ5, Q9H6T0, Q9Z2X1, Q12849, Q15020, Q5REG1, Q8R3C6, Q9JLI8, Q9Y4C8, Q5RBM8, Q8R4X3, Q8SQ27, Q9NTZ6, Q66JV4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 204 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 |
|---|---|---|---|
| Apoptotic execution phase | 5 | 16.4× | 1e-03 |
| FGFR2 alternative splicing | 5 | 14.6× | 2e-03 |
| mRNA Polyadenylation | 20 | 12.1× | 1e-13 |
| Dengue Virus Genome Translation and Replication | 5 | 10.9× | 7e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 18 | 10.2× | 3e-11 |
| mRNA Splicing - Major Pathway | 23 | 8.7× | 6e-13 |
| mRNA Splicing | 9 | 6.8× | 9e-04 |
| Dengue Virus-Host Interactions | 21 | 6.6× | 1e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| alternative mRNA splicing, via spliceosome | 8 | 30.6× | 7e-08 |
| positive regulation of cytoplasmic translation | 5 | 28.2× | 1e-04 |
| intrinsic apoptotic signaling pathway | 7 | 14.3× | 1e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 10 | 13.9× | 1e-06 |
| mRNA stabilization | 6 | 12.5× | 7e-04 |
| RNA processing | 9 | 11.2× | 2e-05 |
| autophagosome maturation | 5 | 10.0× | 7e-03 |
| mRNA splicing, via spliceosome | 19 | 9.9× | 8e-11 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1819 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:68332215:GG:G | donor_gain | 1.0000 |
| 10:68332216:GG:G | donor_gain | 1.0000 |
| 10:68332223:G:GT | donor_gain | 1.0000 |
| 10:68332226:G:GG | donor_gain | 1.0000 |
| 10:68332232:GGGG:G | donor_gain | 1.0000 |
| 10:68332233:GGGG:G | donor_gain | 1.0000 |
| 10:68337312:G:GT | donor_gain | 1.0000 |
| 10:68337313:A:T | donor_gain | 1.0000 |
| 10:68337980:G:GT | donor_gain | 1.0000 |
| 10:68337981:A:T | donor_gain | 1.0000 |
| 10:68338610:G:GT | donor_gain | 1.0000 |
| 10:68338640:G:GT | donor_gain | 1.0000 |
| 10:68338643:G:GG | donor_gain | 1.0000 |
| 10:68338667:G:GT | donor_gain | 1.0000 |
| 10:68339135:CACA:C | acceptor_loss | 1.0000 |
| 10:68339136:A:AG | acceptor_gain | 1.0000 |
| 10:68339136:ACAG:A | acceptor_gain | 1.0000 |
| 10:68339136:ACAGG:A | acceptor_loss | 1.0000 |
| 10:68339137:CA:C | acceptor_loss | 1.0000 |
| 10:68339138:A:AG | acceptor_gain | 1.0000 |
| 10:68339138:A:G | acceptor_loss | 1.0000 |
| 10:68339139:G:GA | acceptor_loss | 1.0000 |
| 10:68339139:G:GG | acceptor_gain | 1.0000 |
| 10:68339139:GGTT:G | acceptor_gain | 1.0000 |
| 10:68339224:GAG:G | donor_gain | 1.0000 |
| 10:68339225:AG:A | donor_loss | 1.0000 |
| 10:68339226:GGTAA:G | donor_loss | 1.0000 |
| 10:68339227:G:C | donor_loss | 1.0000 |
| 10:68339434:TTCCA:T | acceptor_loss | 1.0000 |
| 10:68339437:CAGGT:C | acceptor_loss | 1.0000 |
AlphaMissense
2266 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:68337274:T:A | V18E | 1.000 |
| 10:68337277:G:C | R19P | 1.000 |
| 10:68337280:T:A | L20H | 1.000 |
| 10:68337280:T:C | L20P | 1.000 |
| 10:68337280:T:G | L20R | 1.000 |
| 10:68337282:C:A | R21S | 1.000 |
| 10:68337282:C:G | R21G | 1.000 |
| 10:68337282:C:T | R21C | 1.000 |
| 10:68337283:G:A | R21H | 1.000 |
| 10:68337283:G:C | R21P | 1.000 |
| 10:68337283:G:T | R21L | 1.000 |
| 10:68337285:G:A | G22R | 1.000 |
| 10:68337285:G:C | G22R | 1.000 |
| 10:68337286:G:A | G22E | 1.000 |
| 10:68337286:G:C | G22A | 1.000 |
| 10:68337286:G:T | G22V | 1.000 |
| 10:68337289:T:A | L23Q | 1.000 |
| 10:68337289:T:C | L23P | 1.000 |
| 10:68337289:T:G | L23R | 1.000 |
| 10:68337291:C:A | P24T | 1.000 |
| 10:68337291:C:G | P24A | 1.000 |
| 10:68337291:C:T | P24S | 1.000 |
| 10:68337292:C:A | P24Q | 1.000 |
| 10:68337292:C:G | P24R | 1.000 |
| 10:68337292:C:T | P24L | 1.000 |
| 10:68337294:T:A | F25I | 1.000 |
| 10:68337294:T:C | F25L | 1.000 |
| 10:68337294:T:G | F25V | 1.000 |
| 10:68337295:T:C | F25S | 1.000 |
| 10:68337295:T:G | F25C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000183533 (10:68340139 A>T), RS1000242351 (10:68340406 C>T), RS1000292075 (10:68332632 A>T), RS1000725840 (10:68332461 A>G), RS1000742449 (10:68333089 G>A), RS1000987610 (10:68333256 T>A,G), RS1001517412 (10:68333157 G>A,C), RS1001649849 (10:68338438 C>A,G,T), RS1001705913 (10:68340481 G>A), RS1001761779 (10:68332040 C>A,T), RS1002167249 (10:68333132 T>G), RS1002233823 (10:68332147 C>A,T), RS1002498526 (10:68332854 G>A), RS1002613750 (10:68336247 A>G), RS1002646181 (10:68336519 G>A)
Disease associations
OMIM: gene MIM:602324 | 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 (1): CHEMBL6066917 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.37 | Kd | 4.308 | nM | CHEMBL3752910 |
| 8.29 | ED50 | 5.127 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148532: Binding affinity to human HNRNPH3 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0043 | uM |
CTD chemical–gene interactions
62 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| bisphenol A | increases expression, decreases expression, affects cotreatment, affects expression, increases abundance | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects cotreatment, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Hydrogen Peroxide | affects cotreatment, decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| resorcinol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, 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 |
|---|---|---|---|
| CHEMBL5651574 | Binding | Binding affinity to human HNRNPH3 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.