ERH
gene geneOn this page
Also known as DROER
Summary
ERH (ERH mRNA splicing and mitosis factor, HGNC:3447) is a protein-coding gene on chromosome 14q24.1, encoding Enhancer of rudimentary homolog (P84090). May have a role in the cell cycle. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables methyl-CpG binding activity. Predicted to be involved in pyrimidine nucleoside metabolic process. Located in midbody and nucleus. Part of methylosome.
Source: NCBI Gene 2079 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 7 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_004450
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3447 |
| Approved symbol | ERH |
| Name | ERH mRNA splicing and mitosis factor |
| Location | 14q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DROER |
| Ensembl gene | ENSG00000100632 |
| Ensembl biotype | protein_coding |
| OMIM | 601191 |
| Entrez | 2079 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000216520, ENST00000555373, ENST00000557016, ENST00000557697, ENST00000862407, ENST00000862408, ENST00000912104, ENST00000912105, ENST00000912106
RefSeq mRNA: 1 — MANE Select: NM_004450
NM_004450
CCDS: CCDS9794
Canonical transcript exons
ENST00000557016 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001364872 | 69394825 | 69394912 |
| ENSE00001368482 | 69398231 | 69398299 |
| ENSE00002495907 | 69380128 | 69380640 |
| ENSE00003476020 | 69386963 | 69387083 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 282.1127 / max 4180.4168, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143886 | 267.7314 | 1827 |
| 143885 | 14.3813 | 1777 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| seminal vesicle | UBERON:0000998 | 99.16 | gold quality |
| embryo | UBERON:0000922 | 99.12 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.10 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.08 | gold quality |
| ventricular zone | UBERON:0003053 | 99.06 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.97 | gold quality |
| mammary duct | UBERON:0001765 | 98.96 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.89 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.88 | gold quality |
| adult organism | UBERON:0007023 | 98.86 | gold quality |
| renal medulla | UBERON:0000362 | 98.85 | gold quality |
| endometrium | UBERON:0001295 | 98.82 | gold quality |
| caput epididymis | UBERON:0004358 | 98.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.79 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.79 | gold quality |
| pylorus | UBERON:0001166 | 98.77 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.77 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.72 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.70 | gold quality |
| pericardium | UBERON:0002407 | 98.70 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.70 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.70 | gold quality |
| type B pancreatic cell | CL:0000169 | 98.69 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.67 | gold quality |
| upper arm skin | UBERON:0004263 | 98.65 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.63 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 98.61 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 98.60 | gold quality |
| bronchus | UBERON:0002185 | 98.60 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.58 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 47.99 |
| E-HCAD-10 | yes | 40.67 |
| E-CURD-112 | yes | 40.00 |
| E-CURD-122 | yes | 18.11 |
| E-MTAB-6819 | no | 379.05 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting ERH, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 15)
- molecular structure, dimerization and protein-protein interactions (PMID:15794639)
- ERH may be an important transcription regulator that also functions in the control of cell-cycle progression. (PMID:17444515)
- interaction with ERH could block the binding of p21(Cip1/Waf1) by Ciz1 in the cell. When ERH and Ciz1 are coexpressed in HeLa cells, Ciz1 recruits ERH to DNA replication foci (PMID:18081865)
- Enhancer of rudimentary homolog (ERH) overexpression may be implicated in the initiation and/or progression of certain human malignancies. (PMID:18500978)
- ERH contributes to chromosome alignment at the metaphase plate by localizing CENP-E at kinetochore regions. (PMID:22704934)
- Evolutionarily conserved protein ERH controls CENP-E mRNA splicing and is required for the survival of KRAS mutant cancer cells. (PMID:23236152)
- Identification of amino acid residues of ERH required for its recruitment to nuclear speckles and replication foci (PMID:24015320)
- REVIEW: recent findings indicate that ERH plays an important role in cell cycle through its mRNA splicing activity and is critically required for genomic stability and cancer cell survival (PMID:24078386)
- ERH regulation of RNA processing is needed to ensure faithful DNA replication and repair. (PMID:26100022)
- Data suggest that ERH interacts directly in nucleus with C-terminal Arg-Gly-rich region of SAFB1/SAFB2 and this multimer co-localizes in insoluble nuclear fraction; binding of ERH reverses inhibition exerted by SAFB1/SAFB2 on SRPK1. (ERH = enhancer of rudimentary homolog protein; SAFB = scaffold attachment factor B; SRPK1 = splicing kinase SR protein kinase-1) (PMID:28627136)
- Knockdown of enhancer of rudimentary homolog inhibits proliferation and metastasis in ovarian cancer by regulating epithelial-mesenchymal transition. (PMID:32036222)
- ERH facilitates microRNA maturation through the interaction with the N-terminus of DGCR8. (PMID:33035348)
- Molecular basis for the recognition of CIZ1 by ERH. (PMID:36047590)
- ERH: a plug-and-play protein important for gene silencing and cell cycle progression. (PMID:36334004)
- Upregulated enhancer of rudimentary homolog promotes epithelial-mesenchymal transition and cancer cell migration in lung adenocarcinoma. (PMID:37997813)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | erh | ENSDARG00000032866 |
| mus_musculus | Erh | ENSMUSG00000021131 |
| mus_musculus | Erhrt-ps | ENSMUSG00000063412 |
| rattus_norvegicus | Erhl1 | ENSRNOG00000011239 |
| drosophila_melanogaster | e(r) | FBGN0011586 |
| caenorhabditis_elegans | WBGENE00009444 | |
| caenorhabditis_elegans | WBGENE00011892 |
Protein
Protein identifiers
Enhancer of rudimentary homolog — P84090 (reviewed: P84090)
All UniProt accessions (2): P84090, G3V279
UniProt curated annotations — full annotation on UniProt →
Function. May have a role in the cell cycle.
Subunit / interactions. Homodimer. Interacts with POLDIP3. Component of the methylosome, a 20S complex containing at least CLNS1A/pICln, PRMT5/SKB1, WDR77/MEP50, PRMT1 and ERH. Interacts with CHTOP.
Subcellular location. Nucleus.
Tissue specificity. Expressed in all tissues examined.
Similarity. Belongs to the E(R) family.
RefSeq proteins (1): NP_004441* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000781 | ERH | Family |
| IPR035912 | EHR_sf | Homologous_superfamily |
Pfam: PF01133
UniProt features (16 total): strand 6, helix 4, modified residue 2, initiator methionine 1, chain 1, turn 1, cross-link 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2NML | X-RAY DIFFRACTION | 1.55 |
| 7CNC | X-RAY DIFFRACTION | 1.6 |
| 9RMV | X-RAY DIFFRACTION | 1.7 |
| 1W9G | X-RAY DIFFRACTION | 2 |
| 7X39 | X-RAY DIFFRACTION | 2.85 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P84090-F1 | 96.07 | 0.94 |
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 (3): 2, 11, 12
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 212 (showing top):
MYOGENIN_Q6, PAL_PRMT5_TARGETS_UP, MORF_UBE2I, KOINUMA_COLON_CANCER_MSI_UP, MORF_HDAC1, HSIAO_HOUSEKEEPING_GENES, CAGCTG_AP4_Q5, GGCNKCCATNK_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NUCLEAR_TRANSPORT, GCM_PPP1CC, SOX9_B1, chr14q24
GO Biological Process (2): nucleobase-containing compound metabolic process (GO:0006139), pyrimidine nucleoside metabolic process (GO:0006213)
GO Molecular Function (3): RNA binding (GO:0003723), methyl-CpG binding (GO:0008327), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), midbody (GO:0030496), methylosome (GO:0034709)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| nucleoside metabolic process | 1 |
| pyrimidine-containing compound metabolic process | 1 |
| nucleic acid binding | 1 |
| nucleotide binding | 1 |
| sequence-specific DNA binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| methyltransferase complex | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
220 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHTOP | ERH | psi-mi:“MI:0915”(physical association) | 0.850 |
| ERH | CHTOP | psi-mi:“MI:0915”(physical association) | 0.850 |
| ERH | TASOR2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| THOC1 | EIF4A3 | psi-mi:“MI:0914”(association) | 0.660 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| THOC1 | DDX39A | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| ERH | SNRPD3 | psi-mi:“MI:0914”(association) | 0.580 |
| ERH | SNRPD3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| ERH | TASOR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TASOR2 | ERH | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMA6 | ERH | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERH | CHTOP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | ERH | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERH | CENPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERH | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ATP6V0C | ERH | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERH | UPRT | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF597 | HCFC1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (350): CHTOP (Two-hybrid), FAM208B (Two-hybrid), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Synthetic Lethality), FAM208B (Two-hybrid), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS), ERH (Affinity Capture-Western), ERH (Affinity Capture-MS), ERH (Affinity Capture-MS)
ESM2 similar proteins: A1ANL2, A6TEZ3, B3E2A4, O64300, P03780, P04546, P04716, P07716, P13330, P13951, P27569, P39508, P44210, P44668, P58349, P64467, P64468, P64469, P64470, P69622, P69623, P84089, P84090, Q02408, Q02885, Q05301, Q08052, Q0T4F2, Q0THK2, Q1RBH1, Q24337, Q31NB2, Q320Y2, Q32FE8, Q38168, Q39290, Q3SZC0, Q3Z1Y0, Q44178, Q59461
Diamond homologs: P69099, P69100, P80230, P84089, P84090, Q20057, Q22640, Q24337, Q3SZC0, Q86A92, Q93104, Q94554, Q96319, Q98874, G2TRN4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 177 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 5 | 23.7× | 9e-05 |
| mRNA 3’-end processing | 15 | 22.0× | 3e-14 |
| Transport of Mature Transcript to Cytoplasm | 7 | 19.9× | 3e-06 |
| RNA Polymerase II Transcription Termination | 11 | 18.0× | 1e-09 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 14 | 15.9× | 2e-11 |
| mRNA Splicing | 17 | 13.9× | 6e-13 |
| mRNA Splicing - Minor Pathway | 8 | 13.4× | 8e-06 |
| Processing of Capped Intron-Containing Pre-mRNA | 20 | 12.3× | 3e-14 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 7 | 26.5× | 1e-06 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 23.2× | 3e-04 |
| mRNA export from nucleus | 12 | 21.5× | 1e-10 |
| spliceosomal snRNP assembly | 6 | 21.1× | 6e-05 |
| spliceosomal complex assembly | 5 | 18.2× | 9e-04 |
| stress granule assembly | 5 | 18.2× | 9e-04 |
| mRNA splicing, via spliceosome | 25 | 13.9× | 1e-18 |
| regulation of alternative mRNA splicing, via spliceosome | 8 | 11.8× | 6e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
887 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:69380641:C:CC | acceptor_gain | 1.0000 |
| 14:69386957:A:AC | donor_gain | 1.0000 |
| 14:69386958:C:CC | donor_gain | 1.0000 |
| 14:69386960:TA:T | donor_loss | 1.0000 |
| 14:69386961:A:AC | donor_gain | 1.0000 |
| 14:69386961:A:AT | donor_loss | 1.0000 |
| 14:69386961:ACAC:A | donor_gain | 1.0000 |
| 14:69386962:C:CC | donor_gain | 1.0000 |
| 14:69386962:CA:C | donor_gain | 1.0000 |
| 14:69386962:CACC:C | donor_gain | 1.0000 |
| 14:69386962:CACCA:C | donor_gain | 1.0000 |
| 14:69387079:AACAC:A | acceptor_gain | 1.0000 |
| 14:69387081:CAC:C | acceptor_gain | 1.0000 |
| 14:69394820:CTCA:C | donor_loss | 1.0000 |
| 14:69394821:TCA:T | donor_loss | 1.0000 |
| 14:69394822:CACCT:C | donor_loss | 1.0000 |
| 14:69394823:A:AT | donor_loss | 1.0000 |
| 14:69394824:C:CT | donor_loss | 1.0000 |
| 14:69394908:TGAGA:T | acceptor_gain | 1.0000 |
| 14:69394909:GAGA:G | acceptor_gain | 1.0000 |
| 14:69394910:AGA:A | acceptor_gain | 1.0000 |
| 14:69394911:GA:G | acceptor_gain | 1.0000 |
| 14:69394913:C:CC | acceptor_gain | 1.0000 |
| 14:69394913:CTGCA:C | acceptor_loss | 1.0000 |
| 14:69394914:T:C | acceptor_loss | 1.0000 |
| 14:69380636:GGTAA:G | acceptor_gain | 0.9900 |
| 14:69380637:GTAA:G | acceptor_gain | 0.9900 |
| 14:69380638:TAA:T | acceptor_gain | 0.9900 |
| 14:69380638:TAACT:T | acceptor_loss | 0.9900 |
| 14:69380639:AA:A | acceptor_gain | 0.9900 |
AlphaMissense
690 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:69380589:T:A | K88N | 1.000 |
| 14:69380589:T:G | K88N | 1.000 |
| 14:69380597:A:G | W86R | 1.000 |
| 14:69380597:A:T | W86R | 1.000 |
| 14:69386968:G:C | C69W | 1.000 |
| 14:69386995:G:C | F60L | 1.000 |
| 14:69386995:G:T | F60L | 1.000 |
| 14:69386997:A:G | F60L | 1.000 |
| 14:69387021:A:G | Y52H | 1.000 |
| 14:69387056:A:G | L40P | 1.000 |
| 14:69394832:G:C | C28W | 1.000 |
| 14:69394858:C:G | A20P | 1.000 |
| 14:69394865:T:A | R17S | 1.000 |
| 14:69394865:T:G | R17S | 1.000 |
| 14:69380569:A:G | L95P | 0.999 |
| 14:69380590:T:A | K88I | 0.999 |
| 14:69380595:C:A | W86C | 0.999 |
| 14:69380595:C:G | W86C | 0.999 |
| 14:69380601:T:A | K84N | 0.999 |
| 14:69380601:T:G | K84N | 0.999 |
| 14:69380618:A:G | Y79H | 0.999 |
| 14:69386966:A:G | L70P | 0.999 |
| 14:69386969:C:T | C69Y | 0.999 |
| 14:69386970:A:G | C69R | 0.999 |
| 14:69386975:A:G | L67P | 0.999 |
| 14:69386978:T:A | D66V | 0.999 |
| 14:69386996:A:G | F60S | 0.999 |
| 14:69387001:A:C | F58L | 0.999 |
| 14:69387001:A:T | F58L | 0.999 |
| 14:69387003:A:G | F58L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002856 (14:69381483 T>C), RS1000200655 (14:69397360 C>T), RS1000614845 (14:69397586 C>T), RS1000639166 (14:69391510 T>G), RS1000755381 (14:69386116 C>T), RS1000839690 (14:69395302 A>T), RS1000869108 (14:69395657 A>G), RS1000950375 (14:69389703 T>C), RS1001033053 (14:69383902 C>G), RS1001051813 (14:69390259 A>G), RS1001108228 (14:69384123 C>A,G,T), RS1001210292 (14:69394340 T>C), RS1001371147 (14:69382522 C>A), RS1001382931 (14:69390028 G>A), RS1001442954 (14:69382710 G>A)
Disease associations
OMIM: gene MIM:601191 | 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 |
|---|---|---|
| GCST90002389_288 | Lymphocyte percentage of white cells | 2.000000e-12 |
| GCST90002399_356 | Neutrophil percentage of white cells | 2.000000e-17 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725195 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
6 potent at pChembl≥5 of 6 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.05 | Kd | 8.954 | nM | CHEMBL3752910 |
| 8.05 | ED50 | 8.954 | nM | CHEMBL3752910 |
| 6.84 | Kd | 143 | nM | MOLIBRESIB |
| 6.64 | IC50 | 230 | nM | MOLIBRESIB |
| 6.09 | Kd | 806.5 | nM | CHEMBL5653589 |
| 6.09 | ED50 | 806.5 | nM | CHEMBL5653589 |
PubChem BioAssay actives
4 with measured affinity, of 11 total; 3 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 | 2148332: Binding affinity to human ERH incubated for 45 mins by Kinobead based pull down assay | kd | 0.0090 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179228: Binding affinity against ERH (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.1430 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148332: Binding affinity to human ERH incubated for 45 mins by Kinobead based pull down assay | kd | 0.8065 | uM |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 3 |
| Air Pollutants | decreases expression, affects expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bufotalin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | increases expression, affects cotreatment, affects localization | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| 2-bromopalmitate | increases palmitoylation, decreases reaction, increases abundance | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Arsenic | increases ubiquitination | 1 |
| Benztropine | increases expression | 1 |
| Cadmium | increases abundance, increases palmitoylation, decreases reaction | 1 |
| Cannabidiol | increases expression | 1 |
| Clozapine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects expression, affects response to substance | 1 |
| Methotrexate | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651374 | Binding | Binding affinity to human ERH 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.