ELOA
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Also known as SIIITCEB3AELOA1
Summary
ELOA (elongin A, HGNC:11620) is a protein-coding gene on chromosome 1p36.11, encoding Elongin-A (Q14241). SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. It is a selective cancer dependency (DepMap: 10.6% of cell lines).
This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation.
Source: NCBI Gene 6924 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 119 total
- Cancer dependency (DepMap): dependent in 10.6% of screened cell lines
- MANE Select transcript:
NM_003198
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11620 |
| Approved symbol | ELOA |
| Name | elongin A |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SIII, TCEB3A, ELOA1 |
| Ensembl gene | ENSG00000011007 |
| Ensembl biotype | protein_coding |
| OMIM | 600786 |
| Entrez | 6924 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000418390, ENST00000487554, ENST00000609199, ENST00000613537, ENST00000907871
RefSeq mRNA: 1 — MANE Select: NM_003198
NM_003198
CCDS: CCDS239
Canonical transcript exons
ENST00000613537 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000388637 | 23754100 | 23754255 |
| ENSE00000388638 | 23754363 | 23754460 |
| ENSE00000388639 | 23755843 | 23756023 |
| ENSE00000560760 | 23750845 | 23752030 |
| ENSE00000758349 | 23756953 | 23757125 |
| ENSE00000758350 | 23756274 | 23756385 |
| ENSE00000758354 | 23752407 | 23752518 |
| ENSE00001596651 | 23759512 | 23762059 |
| ENSE00003559637 | 23749021 | 23749077 |
| ENSE00003565857 | 23749842 | 23749948 |
| ENSE00003703844 | 23743471 | 23743578 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 95.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.9516 / max 243.7578, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1363 | 27.8081 | 1821 |
| 1362 | 1.7905 | 1284 |
| 1361 | 0.3530 | 101 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 95.23 | gold quality |
| lower lobe of lung | UBERON:0008949 | 94.72 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.67 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.06 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.49 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.21 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 93.20 | gold quality |
| upper arm skin | UBERON:0004263 | 93.14 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.00 | gold quality |
| cervix epithelium | UBERON:0004801 | 92.80 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.61 | gold quality |
| biceps brachii | UBERON:0001507 | 92.56 | gold quality |
| diaphragm | UBERON:0001103 | 92.43 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.29 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.20 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.10 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.06 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 92.01 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.96 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.96 | gold quality |
| pylorus | UBERON:0001166 | 91.87 | gold quality |
| muscle tissue | UBERON:0002385 | 91.74 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.68 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.66 | gold quality |
| deltoid | UBERON:0001476 | 91.65 | gold quality |
| type B pancreatic cell | CL:0000169 | 91.46 | silver quality |
| triceps brachii | UBERON:0001509 | 91.46 | gold quality |
| myocardium | UBERON:0002349 | 91.22 | gold quality |
| gingiva | UBERON:0001828 | 91.05 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 90.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
123 targeting ELOA, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Elongin A transcription elongation activity, but not its ubiquitination activity, is most important for its function in induction of transcription of ATF3 and p21. (PMID:23828199)
- TCEB3C is a putative tumor suppressor gene of small intestinal neuroendocrine tumors (PMID:24351681)
- the Elongin A ubiquitin ligase and the CSB protein function together in a common pathway in response to Pol II stalling and DNA damage (PMID:28292928)
- Elongin A regulates transcription in vivo through enhanced RNA polymerase processivity. (PMID:33298525)
- TCEB3 initiates ovarian cancer apoptosis by mediating ubiquitination and degradation of MCL-1. (PMID:38661028)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eloa | ENSDARG00000102365 |
| mus_musculus | Eloa | ENSMUSG00000028668 |
| rattus_norvegicus | Eloa | ENSRNOG00000010902 |
| drosophila_melanogaster | EloA | FBGN0039066 |
| caenorhabditis_elegans | WBGENE00010990 |
Paralogs (1): ELOA2 (ENSG00000206181)
Protein
Protein identifiers
Elongin-A — Q14241 (reviewed: Q14241)
Alternative names: Elongin 110 kDa subunit, RNA polymerase II transcription factor SIII subunit A1, SIII p110, Transcription elongation factor B polypeptide 3
All UniProt accessions (2): Q14241, A0AAA9X7E5
UniProt curated annotations — full annotation on UniProt →
Function. SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A.
Subunit / interactions. Heterotrimer of an A (ELOA, ELOA2 or ELOA3P), ELOB and ELOC subunit. Part of a multisubunit ubiquitin ligase complex consisting of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5. Interacts with ERCC6; the interaction is induced by DNA damaging agents or inhibitors of RNA polymerase II elongation. Interacts (via BC-box) with CUL5.
Subcellular location. Nucleus.
Domain organisation. The BC-box, which mediates binding to the elongin BC complex, has the consensus sequence [APST]-L-x(3)-C-x(3)-[AILV].
Miscellaneous. Produced by alternative initiation. Based on proteomic data.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14241-2 | 2 | yes |
| Q14241-1 | 1 |
RefSeq proteins (1): NP_003189* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR003617 | TFIIS/CRSP70_N_sub | Domain |
| IPR010684 | RNA_pol_II_trans_fac_SIII_A | Family |
| IPR017923 | TFIIS_N | Domain |
| IPR035441 | TFIIS/LEDGF_dom_sf | Homologous_superfamily |
| IPR051870 | Elongin-A_domain | Family |
Pfam: PF06881, PF08711
UniProt features (43 total): helix 12, compositionally biased region 9, modified residue 6, region of interest 5, sequence variant 3, turn 3, domain 2, chain 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HFX | X-RAY DIFFRACTION | 2.54 |
| 8OEW | ELECTRON MICROSCOPY | 2.8 |
| 8OEV | ELECTRON MICROSCOPY | 2.86 |
| 8OF0 | ELECTRON MICROSCOPY | 3.05 |
| 6ZUZ | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14241-F1 | 57.63 | 0.18 |
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 (6): 196, 384, 387, 394, 434, 516
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-112382 | Formation of RNA Pol II elongation complex |
| R-HSA-167152 | Formation of HIV elongation complex in the absence of HIV Tat |
| R-HSA-167200 | Formation of HIV-1 elongation complex containing HIV-1 Tat |
| R-HSA-167238 | Pausing and recovery of Tat-mediated HIV elongation |
| R-HSA-167243 | Tat-mediated HIV elongation arrest and recovery |
| R-HSA-167246 | Tat-mediated elongation of the HIV-1 transcript |
| R-HSA-167287 | HIV elongation arrest and recovery |
| R-HSA-167290 | Pausing and recovery of HIV elongation |
| R-HSA-674695 | RNA Polymerase II Pre-transcription Events |
| R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| R-HSA-75955 | RNA Polymerase II Transcription Elongation |
MSigDB gene sets: 167 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_229, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_HIV_INFECTION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, WTGAAAT_UNKNOWN, TCF11_01, MODULE_123, DEN_INTERACT_WITH_LCA5, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GARY_CD5_TARGETS_DN, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, CART1_01
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), transcription elongation by RNA polymerase II (GO:0006368), regulation of DNA-templated transcription (GO:0006355), transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), elongin complex (GO:0070449), site of DNA damage (GO:0090734), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Transcription of the HIV genome | 5 |
| RNA Polymerase II Transcription | 2 |
| RNA Polymerase II Transcription Elongation | 1 |
| Tat-mediated elongation of the HIV-1 transcript | 1 |
| HIV Transcription Elongation | 1 |
| Transcriptional Regulation by TP53 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 3 |
| DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| DNA-templated transcription initiation | 1 |
| DNA-templated transcription elongation | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| transcription elongation factor complex | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1403 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELOA | ELOC | Q15369 | 987 |
| ELOA | ELOB | Q15370 | 958 |
| ELOA | REXO1 | Q8N1G1 | 918 |
| ELOA | CUL5 | Q93034 | 767 |
| ELOA | VHL | P40337 | 708 |
| ELOA | TCEA2 | Q15560 | 702 |
| ELOA | TCEA3 | O75764 | 694 |
| ELOA | CUL2 | Q13617 | 631 |
| ELOA | MED26 | O95402 | 618 |
| ELOA | POLR2A | P24928 | 613 |
| ELOA | LRRC41 | Q15345 | 592 |
| ELOA | TCEA1 | P23193 | 579 |
| ELOA | PPIE | Q9UNP9 | 519 |
| ELOA | RNF7 | Q9UBF6 | 504 |
| ELOA | CCNT1 | O60563 | 498 |
IntAct
227 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| PLK4 | ELOA | psi-mi:“MI:0915”(physical association) | 0.720 |
| ELOA | MDFI | psi-mi:“MI:0915”(physical association) | 0.720 |
| MDFI | ELOA | psi-mi:“MI:0915”(physical association) | 0.720 |
| ELOA | FLJ13057 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOMEZ | ELOA | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | CEP57L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBY2 | ELOA | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | CEP70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JAKMIP2 | ELOA | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | TRIM54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MID2 | ELOA | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ELOA | HOMEZ | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | CBY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOA | JAKMIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM54 | ELOA | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (323): TCEB3 (Co-localization), PSMB9 (Co-localization), POLR2A (Co-localization), POLR2B (Co-localization), POLR2C (Co-localization), POLR2D (Co-localization), POLR2E (Co-localization), POLR2F (Co-localization), POLR2G (Co-localization), POLR2H (Co-localization), POLR2I (Co-localization), POLR2L (Co-localization), POLR2J (Co-localization), POLR2K (Co-localization), TCEB3 (Co-localization)
ESM2 similar proteins: A0JNI5, A2AJT4, D3ZTQ1, O35691, O75376, P79149, Q05519, Q12872, Q14241, Q149C2, Q3USH5, Q4KKX4, Q4R6F6, Q53F19, Q568R1, Q569Z6, Q5BJ39, Q5BL56, Q5HZB6, Q5M7V8, Q5R5X0, Q5SFM8, Q5T8P6, Q5ZM19, Q60974, Q63187, Q6DFQ2, Q6NZN0, Q6PJT7, Q6WKW9, Q6ZPZ3, Q8BZR9, Q8BZX4, Q8CB77, Q8CFC7, Q8K019, Q8K3W3, Q8K3X0, Q8N2M8, Q8QG78
Diamond homologs: A5PKE4, B0UYI1, F4J4Y5, O75764, P23881, Q14241, Q2KI09, Q5XIC7, Q63187, Q8CB77, Q8R2M0, Q96MN5, Q9FHK9, A5PK23, O95402, P07273, P0C8F5, P0C8F6, P0C8F7, P0C8F8, P10711, P20232, P23193, P27948, P49373, P52652, Q04307, Q07271, Q148K0, Q15560, Q29RL9, Q2M2S7, Q3US16, Q4KLL0, Q54YG9, Q56254, Q5UQS8, Q63799, Q6GZP4, Q7TN02
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 |
|---|---|---|---|
| Formation of RNA Pol II elongation complex | 5 | 15.9× | 2e-03 |
| RNA Polymerase II Transcription Elongation | 5 | 15.9× | 2e-03 |
| RNA Polymerase II Pre-transcription Events | 6 | 13.5× | 2e-03 |
| CHD1 and CHD2 subfamily | 6 | 10.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 104 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1196 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:23743574:AGAAG:A | donor_gain | 1.0000 |
| 1:23743575:GAAG:G | donor_gain | 1.0000 |
| 1:23743575:GAAGG:G | donor_gain | 1.0000 |
| 1:23743576:AAG:A | donor_gain | 1.0000 |
| 1:23743577:AG:A | donor_gain | 1.0000 |
| 1:23743577:AGG:A | donor_loss | 1.0000 |
| 1:23743578:GG:G | donor_gain | 1.0000 |
| 1:23743579:G:GA | donor_loss | 1.0000 |
| 1:23743579:G:GG | donor_gain | 1.0000 |
| 1:23749017:GCA:G | acceptor_loss | 1.0000 |
| 1:23749019:A:AG | acceptor_gain | 1.0000 |
| 1:23749020:G:GA | acceptor_gain | 1.0000 |
| 1:23749020:GC:G | acceptor_gain | 1.0000 |
| 1:23749020:GCT:G | acceptor_gain | 1.0000 |
| 1:23749020:GCTA:G | acceptor_gain | 1.0000 |
| 1:23749020:GCTAT:G | acceptor_gain | 1.0000 |
| 1:23749075:GCG:G | donor_gain | 1.0000 |
| 1:23749078:G:GG | donor_gain | 1.0000 |
| 1:23749079:T:A | donor_loss | 1.0000 |
| 1:23749836:TTTTA:T | acceptor_loss | 1.0000 |
| 1:23749837:TTTA:T | acceptor_loss | 1.0000 |
| 1:23749838:TTAG:T | acceptor_loss | 1.0000 |
| 1:23749839:TAG:T | acceptor_loss | 1.0000 |
| 1:23749841:GGA:G | acceptor_gain | 1.0000 |
| 1:23749841:GGAGA:G | acceptor_gain | 1.0000 |
| 1:23749944:GAACG:G | donor_gain | 1.0000 |
| 1:23749949:G:GA | donor_loss | 1.0000 |
| 1:23749949:G:GG | donor_gain | 1.0000 |
| 1:23750838:A:AG | acceptor_gain | 1.0000 |
| 1:23750839:T:G | acceptor_gain | 1.0000 |
AlphaMissense
5241 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:23743541:T:C | L39P | 1.000 |
| 1:23749043:T:C | L59P | 1.000 |
| 1:23749073:T:A | L69H | 1.000 |
| 1:23749855:G:A | G75E | 1.000 |
| 1:23749864:T:A | V78E | 1.000 |
| 1:23749903:C:A | A91D | 1.000 |
| 1:23749923:T:A | W98R | 1.000 |
| 1:23749923:T:C | W98R | 1.000 |
| 1:23749924:G:C | W98S | 1.000 |
| 1:23749925:G:C | W98C | 1.000 |
| 1:23749925:G:T | W98C | 1.000 |
| 1:23754178:G:A | G565D | 1.000 |
| 1:23754227:C:G | C581W | 1.000 |
| 1:23754435:T:C | L615P | 1.000 |
| 1:23755870:T:A | W633R | 1.000 |
| 1:23755870:T:C | W633R | 1.000 |
| 1:23755872:G:C | W633C | 1.000 |
| 1:23755872:G:T | W633C | 1.000 |
| 1:23759518:C:A | A781D | 1.000 |
| 1:23759521:C:A | P782Q | 1.000 |
| 1:23759527:T:C | M784T | 1.000 |
| 1:23759534:G:C | K786N | 1.000 |
| 1:23759534:G:T | K786N | 1.000 |
| 1:23759552:G:C | K792N | 1.000 |
| 1:23759552:G:T | K792N | 1.000 |
| 1:23743553:T:C | L43P | 0.999 |
| 1:23749034:T:C | L56S | 0.999 |
| 1:23749043:T:A | L59H | 0.999 |
| 1:23749073:T:C | L69P | 0.999 |
| 1:23749852:T:A | V74D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000100294 (1:23758196 T>C), RS1000147560 (1:23745511 GA>G), RS1000211 (1:23760694 C>T), RS1000212 (1:23760668 G>A), RS1000213 (1:23760530 T>G), RS1000278163 (1:23743570 C>T), RS1000280673 (1:23752078 CT>C), RS1000288484 (1:23756684 C>T), RS1000309142 (1:23743790 T>C), RS1000484045 (1:23746880 C>G), RS1000533498 (1:23762360 A>G), RS1000578846 (1:23750264 C>T), RS1001007957 (1:23744942 T>G), RS1001150805 (1:23744111 A>C,G), RS1001693994 (1:23750588 T>A)
Disease associations
OMIM: gene MIM:600786 | 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 |
|---|---|---|
| GCST002740_56 | Inflammatory skin disease | 1.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 4 |
| Doxorubicin | affects expression, increases expression | 2 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Vorinostat | affects expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Fluorouracil | affects expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7B3 | SEES3-1V human TCEB3, clone1 | Embryonic stem cell | Male |
| CVCL_A7B4 | SEES3-1V human TCEB3, clone2 | Embryonic stem cell | Male |
| CVCL_A7B5 | SEES3-1V human TCEB3, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): psoriasis