ELOA
protein-codingelongin A, the group of Elongin complex
Gene summary
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. [provided by RefSeq, Jul 2008]
- TCEB3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~18.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ELOA variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003198.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 103 | 2 | 105 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 107 | 2 | 1 | 110 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003189.3 | 11 | MANE Select | |
| Ensembl | ENSP00000484196.2 | 11 | MANE Select | |
| Ensembl | ENSP00000395574.3 | 6 | Standard | |
| Ensembl | ENSP00000577930.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- VEGFA-VEGFR2 Signaling Pathway
- MET in type 1 papillary renal cell carcinoma
- Disease
- Gene expression (Transcription)
- Formation of HIV-1 elongation complex containing HIV-1 Tat
Biological Process
- regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
- transcription elongation from RNA polymerase II promoter
Molecular Function
- protein binding
Cellular Component
- extracellular space
- nucleoplasm
- elongin complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000418390
- Coding exons
- 11
- Length
- 18905
- Individuals with no LoFs
- 125719
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 14
- Defined
- 125733
- p
- 0.0000557
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.79 | 320 | 424 | 0.755 | 0.0000227 | 5187 |
| Missense (PolyPhen) | 36 | 92.12 | 0.39079 | 1108 | ||
| Synonymous | 0.200 | 163 | 166 | 0.980 | 0.00000950 | 1526 |
| Loss of Function | 5.71 | 1 | 40.0 | 0.0250 | 0.00000272 | 459 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00012 | 0.00011 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- 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). {ECO:0000269|PubMed:8654961}.;
Recessive Scores
- pRec
- 0.127
Intolerance Scores
- RVIS EVS
- 0.96
- RVIS percentile EVS
- 90.17
Essentials
- Essential (gene trap)
- H