ELF2
gene geneOn this page
Also known as EU32NERFNERF-2NERF-1ANERF-1B
Summary
ELF2 (E74 like ETS transcription factor 2, HGNC:3317) is a protein-coding gene on chromosome 4q31.1, encoding ETS-related transcription factor Elf-2 (Q15723). Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body.
Source: NCBI Gene 1998 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total — 1 likely-pathogenic
- Transcription factor: yes — 12 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001331036
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3317 |
| Approved symbol | ELF2 |
| Name | E74 like ETS transcription factor 2 |
| Location | 4q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EU32, NERF, NERF-2, NERF-1A, NERF-1B |
| Ensembl gene | ENSG00000109381 |
| Ensembl biotype | protein_coding |
| OMIM | 619798 |
| Entrez | 1998 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 10 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000358635, ENST00000379549, ENST00000379550, ENST00000394235, ENST00000504314, ENST00000510408, ENST00000511006, ENST00000511184, ENST00000512627, ENST00000514577, ENST00000514606, ENST00000515489, ENST00000686138, ENST00000864104, ENST00000864105, ENST00000935561
RefSeq mRNA: 11 — MANE Select: NM_001331036
NM_001276457, NM_001276458, NM_001276459, NM_001331036, NM_001371324, NM_001371336, NM_001371337, NM_001371338, NM_001371339, NM_006874, NM_201999
CCDS: CCDS3744, CCDS3745, CCDS64062, CCDS64063, CCDS82954
Canonical transcript exons
ENST00000686138 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000739091 | 139060324 | 139060674 |
| ENSE00000970367 | 139125164 | 139125329 |
| ENSE00001192730 | 139137630 | 139137867 |
| ENSE00001403285 | 139071866 | 139072039 |
| ENSE00001517815 | 139139413 | 139139497 |
| ENSE00001517816 | 139176967 | 139177218 |
| ENSE00001744714 | 139061865 | 139062057 |
| ENSE00003582840 | 139073454 | 139073567 |
| ENSE00003653488 | 139067684 | 139067770 |
| ENSE00003932468 | 139057265 | 139059607 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 97.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.0719 / max 579.2423, expressed in 1807 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54050 | 11.5191 | 1725 |
| 54046 | 5.9945 | 1635 |
| 54045 | 4.5582 | 1537 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 97.19 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.64 | gold quality |
| cortical plate | UBERON:0005343 | 94.60 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.88 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.48 | gold quality |
| ventricular zone | UBERON:0003053 | 92.75 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.97 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.72 | gold quality |
| tendon | UBERON:0000043 | 91.70 | gold quality |
| right lung | UBERON:0002167 | 91.46 | gold quality |
| upper leg skin | UBERON:0004262 | 91.17 | gold quality |
| thoracic aorta | UBERON:0001515 | 91.08 | gold quality |
| skin of hip | UBERON:0001554 | 91.07 | gold quality |
| ascending aorta | UBERON:0001496 | 91.05 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.01 | gold quality |
| blood | UBERON:0000178 | 90.94 | gold quality |
| corpus callosum | UBERON:0002336 | 90.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.82 | gold quality |
| lower esophagus | UBERON:0013473 | 90.81 | gold quality |
| aorta | UBERON:0000947 | 90.77 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.68 | gold quality |
| muscle of leg | UBERON:0001383 | 90.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.58 | gold quality |
| tibial artery | UBERON:0007610 | 90.58 | gold quality |
| popliteal artery | UBERON:0002250 | 90.57 | gold quality |
| sural nerve | UBERON:0015488 | 90.47 | gold quality |
| tonsil | UBERON:0002372 | 90.45 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.38 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.34 | gold quality |
| omental fat pad | UBERON:0010414 | 90.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.32 |
| E-GEOD-125970 | no | 3.13 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
12 targets.
| Target | Regulation |
|---|---|
| ANGPT1 | |
| ANGPT2 | |
| BLK | Unknown |
| CD3D | Activation |
| CD79A | |
| CEL | |
| LYN | |
| MMP1 | |
| NOS2 | |
| TEK | Activation |
| TIE1 | |
| VCP | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1483.1 | ELF2 | Ets-related |
| MA1483.2 | ELF2 | Ets-related |
| MA1483.3 | ELF2 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:20517297
miRNA regulators (miRDB)
126 targeting ELF2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
Literature-anchored findings (GeneRIF, showing 10)
- angiopoietin-1 regulates expression of NERF2 and its own receptor in hypoxic cells. (PMID:11967990)
- NERF/ELF-2 physically interacts with AML1 and mediates opposing effects on AML1-mediated transcription of the B cell-specific blk gene (PMID:14970218)
- These findings indicate that ELF2/NERF promotes VCP transcription and that ELF2/NERF-VCP pathway might be important for cell survival and proliferation under cytokine stress. (PMID:17368566)
- ELF2 transactivates VCP promoter through binding to two motifs, with a predominant contribution of the upstream one. (PMID:18544453)
- Affinity of the CAL PDZ domain for the cystic fibrosis transmembrane conductance regulator (CFTR) C-terminus is much weaker than that of the NHERF1/NHERF2 domains, enabling wild-type CFTR to avoid premature entrapment in the lysosomal pathway. (PMID:18754678)
- Our findings collectively support a potential role of triiodothyronine and its receptor in tumor growth inhibition through regulation of ELF2 (PMID:26968954)
- PCAT7 contributed to the progression of nasopharyngeal carcinoma through regulating miR-134-5p/ELF2 signaling pathway. (PMID:28728844)
- Mutations in eIF2B genes cause vanishing white matter disease due to translation defects. (PMID:29632131)
- Circ_0028007 Aggravates the Malignancy of Nasopharyngeal Carcinoma by Regulating miR-656-3p/ELF2 Axis. (PMID:35239093)
- c-Myc-induced long noncoding RNA MIRE cooperates with hnRNPK to stabilize ELF2 mRNA and promotes clear cell renal cell carcinogenesis. (PMID:37248433)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elf2b | ENSDARG00000079626 |
| mus_musculus | Elf2 | ENSMUSG00000037174 |
| rattus_norvegicus | Elf2 | ENSRNOG00000010815 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
ETS-related transcription factor Elf-2 — Q15723 (reviewed: Q15723)
Alternative names: E74-like factor 2, New ETS-related factor
All UniProt accessions (4): Q15723, B7Z720, D6RGD9, D6RHI1
UniProt curated annotations — full annotation on UniProt →
Function. Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter. Isoform 2 may function in repression of RUNX1-mediated transactivation.
Subunit / interactions. Interacts with the LIM domains of LMO2. Interacts via its N-terminal region with RUNX1.
Subcellular location. Nucleus.
Tissue specificity. Expressed in all fetal and adult tissues examined. Among fetal tissues, highest levels of expression detected in heart, lung, liver and kidney, and lower levels in brain. Among adult tissues, highest levels of expression detected in heart, placenta, lung, skeletal muscle, spleen, thymus, testis and ovary. Moderate expression in prostate, small intestine, kidney, liver and pancreas, and weak expression in colon, brain and peripheral blood lymphocytes.
Similarity. Belongs to the ETS family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15723-5 | 5, NERF-2b | yes |
| Q15723-1 | 1, NERF-2, NERF-2a | |
| Q15723-2 | 2, NERF-1a | |
| Q15723-3 | 3, NERF-1b | |
| Q15723-4 | 4 |
RefSeq proteins (11): NP_001263386, NP_001263387, NP_001263388, NP_001317965, NP_001358253, NP_001358265, NP_001358266, NP_001358267, NP_001358268, NP_006865, NP_973728 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR022084 | TF_Elf_N | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178, PF12310
UniProt features (19 total): modified residue 10, splice variant 3, compositionally biased region 2, chain 1, DNA-binding region 1, cross-link 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9IGJ | ELECTRON MICROSCOPY | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15723-F1 | 50.58 | 0.14 |
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 (11): 372, 376, 430, 494, 521, 536, 107, 182, 185, 191, 363
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8939245 | RUNX1 regulates transcription of genes involved in BCR signaling |
MSigDB gene sets: 166 (showing top):
WENDT_COHESIN_TARGETS_UP, GGGACCA_MIR133A_MIR133B, TGGTGCT_MIR29A_MIR29B_MIR29C, BROWNE_HCMV_INFECTION_6HR_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, AAAGGGA_MIR204_MIR211, KAYO_AGING_MUSCLE_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, ATGTTTC_MIR494, YAGI_AML_WITH_T_9_11_TRANSLOCATION, GOCC_NUCLEAR_BODY, CAGTGTT_MIR141_MIR200A, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, CAGTATT_MIR200B_MIR200C_MIR429
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by RUNX1 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 4 |
| DNA-templated transcription | 3 |
| cellular anatomical structure | 3 |
| transcription by RNA polymerase II | 1 |
| cellular developmental process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| DNA binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1008 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELF2 | RUNX1 | Q01196 | 523 |
| ELF2 | ZBTB26 | Q9HCK0 | 482 |
| ELF2 | KLF6 | Q99612 | 462 |
| ELF2 | MYC | P01106 | 459 |
| ELF2 | ETV2 | O00321 | 436 |
| ELF2 | CMIP | Q8IY22 | 429 |
| ELF2 | POU2F3 | Q9UKI9 | 422 |
| ELF2 | ZNF821 | O75541 | 420 |
| ELF2 | ZNF740 | Q8NDX6 | 417 |
| ELF2 | KLF8 | O95600 | 406 |
| ELF2 | POLR2A | P24928 | 389 |
| ELF2 | PTN | P21246 | 381 |
| ELF2 | ARF3 | P16587 | 375 |
| ELF2 | CDKN2A | P42771 | 374 |
| ELF2 | HOXA6 | P31267 | 369 |
IntAct
75 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| PRPS1 | PRPSAP2 | psi-mi:“MI:0914”(association) | 0.840 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| RUNX1 | ELF2 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| RUNX1 | ELF2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| NFATC2IP | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| DBP | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL1 | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL2 | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL18 | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL23A | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IL36A | ELF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (175): ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Proximity Label-MS), ELF2 (Proximity Label-MS), ELF2 (Proximity Label-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS), ELF2 (Affinity Capture-MS)
ESM2 similar proteins: A0JME2, A2AUY4, D3ZKB9, D4A666, E1B7L7, F1QZ88, F6NSX9, F8VPJ6, P59759, P78364, Q08CM4, Q0IHV2, Q15723, Q2IBE6, Q2IBF7, Q2QLB3, Q3TUF7, Q4G0F8, Q5DTH5, Q5U4Q0, Q5ZIE8, Q5ZM88, Q63HK5, Q641Z1, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZSZ6, Q6ZU65, Q76L83, Q7ZUK7, Q7ZUV7, Q80WC1, Q8AYC1, Q8BZ32, Q8C966, Q8CGV9, Q8CHP6, Q8NDX5
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ELF2 | “up-regulates quantity by expression” | VCP | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 73 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 431175 | NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) | Likely pathogenic |
SpliceAI
3336 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:139043072:A:AG | acceptor_gain | 1.0000 |
| 4:139043072:A:G | acceptor_loss | 1.0000 |
| 4:139043073:G:GA | acceptor_gain | 1.0000 |
| 4:139043073:GT:G | acceptor_gain | 1.0000 |
| 4:139043073:GTGT:G | acceptor_gain | 1.0000 |
| 4:139044634:TTCA:T | acceptor_loss | 1.0000 |
| 4:139044636:CAGCT:C | acceptor_loss | 1.0000 |
| 4:139044637:A:AG | acceptor_gain | 1.0000 |
| 4:139044637:A:T | acceptor_loss | 1.0000 |
| 4:139044638:G:GA | acceptor_gain | 1.0000 |
| 4:139044638:GC:G | acceptor_gain | 1.0000 |
| 4:139044638:GCT:G | acceptor_gain | 1.0000 |
| 4:139044638:GCTC:G | acceptor_gain | 1.0000 |
| 4:139044638:GCTCT:G | acceptor_gain | 1.0000 |
| 4:139060319:CTTA:C | donor_loss | 1.0000 |
| 4:139060320:TTACC:T | donor_loss | 1.0000 |
| 4:139060321:TACCT:T | donor_loss | 1.0000 |
| 4:139060322:A:C | donor_loss | 1.0000 |
| 4:139060323:C:CA | donor_loss | 1.0000 |
| 4:139060670:AGTAT:A | acceptor_gain | 1.0000 |
| 4:139060671:GTAT:G | acceptor_gain | 1.0000 |
| 4:139060672:TAT:T | acceptor_gain | 1.0000 |
| 4:139060673:AT:A | acceptor_gain | 1.0000 |
| 4:139060675:C:A | acceptor_loss | 1.0000 |
| 4:139060675:C:CC | acceptor_gain | 1.0000 |
| 4:139071861:TCTAC:T | donor_loss | 1.0000 |
| 4:139071862:CTACC:C | donor_loss | 1.0000 |
| 4:139071864:A:C | donor_loss | 1.0000 |
| 4:139071865:C:CA | donor_loss | 1.0000 |
| 4:139072037:CCA:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000005012 (4:139168788 A>C), RS1000005855 (4:139124130 A>G), RS1000022125 (4:139072550 G>A), RS10001095 (4:139152885 G>A,C,T), RS1000128786 (4:139075652 C>G), RS1000142850 (4:139123839 T>C), RS1000146697 (4:139123178 G>C,T), RS1000187513 (4:139145318 C>G), RS1000217372 (4:139124913 CTT>C), RS1000232312 (4:139097947 G>A), RS1000257941 (4:139105263 T>C), RS1000258658 (4:139153073 A>T), RS1000264987 (4:139105736 TA>T,TAA), RS1000282402 (4:139150102 G>A), RS1000298155 (4:139092635 C>G)
Disease associations
OMIM: gene MIM:619798 | disease phenotypes: MIM:608088, MIM:614575
GenCC curated gene-disease
Mondo (1): cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (MONDO:0044720)
Orphanet (2): Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (Orphanet:504476), Hereditary sensory and autonomic neuropathy type 1B (Orphanet:139564)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564296 | Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases expression, increases oxidation, affects expression | 2 |
| Ozone | affects cotreatment, increases expression, increases oxidation, increases abundance, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases abundance, affects cotreatment, decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Acrolein | increases abundance, affects cotreatment, increases expression, increases oxidation | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Curcumin | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases 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_A1G9 | SEES3-1V human ELF2, clone1 | Embryonic stem cell | Male |
| CVCL_A1H0 | SEES3-1V human ELF2, clone2 | Embryonic stem cell | Male |
| CVCL_A1H1 | SEES3-1V human ELF2, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04153110 | Not specified | COMPLETED | Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxia |
| NCT05621200 | Not specified | COMPLETED | Transcranial Alternating Current Stimulation (tACS) in Patients With Ataxia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome