ELOA2

elongin A2, the group of Elongin complex

Basic information

Region (hg38): 18:47032527-47035621

Previous symbols: [ "TCEB3B" ]

Links

ENSG00000206181 ∙ NCBI:51224 ∙ OMIM:609522 ∙ HGNC:30771 ∙ Uniprot:Q8IYF1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ELOA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELOA2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			75	13		88
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	75	14	0

Variants in ELOA2

This is a list of pathogenic ClinVar variants found in the ELOA2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-47033023-T-C		not specified	Uncertain significance (Jan 16, 2024)
18-47033062-C-G		not specified	Uncertain significance (Jul 25, 2023)
18-47033073-G-A		not specified	Uncertain significance (Nov 17, 2023)
18-47033082-C-A		not specified	Uncertain significance (Oct 05, 2023)
18-47033091-G-T		not specified	Uncertain significance (May 20, 2024)
18-47033120-G-C		not specified	Uncertain significance (Nov 21, 2023)
18-47033177-G-T		not specified	Uncertain significance (Jun 26, 2024)
18-47033219-G-C		not specified	Uncertain significance (Aug 20, 2024)
18-47033234-C-A		not specified	Uncertain significance (Dec 04, 2023)
18-47033238-G-A		not specified	Uncertain significance (Jan 03, 2024)
18-47033241-G-C		not specified	Uncertain significance (Sep 24, 2024)
18-47033305-T-C		not specified	Likely benign (Sep 26, 2024)
18-47033319-T-C		not specified	Uncertain significance (Jun 28, 2022)
18-47033330-T-G		not specified	Likely benign (Sep 26, 2024)
18-47033337-C-T		not specified	Likely benign (May 08, 2023)
18-47033343-A-G		not specified	Uncertain significance (Dec 27, 2023)
18-47033344-T-G		not specified	Uncertain significance (Oct 01, 2024)
18-47033376-C-T		not specified	Uncertain significance (Mar 11, 2022)
18-47033406-C-G		not specified	Uncertain significance (Jan 09, 2024)
18-47033430-G-C		not specified	Likely benign (Mar 29, 2022)
18-47033515-A-C		not specified	Uncertain significance (Dec 14, 2021)
18-47033521-C-G		not specified	Uncertain significance (Nov 12, 2024)
18-47033533-C-G		not specified	Uncertain significance (Dec 27, 2022)
18-47033549-T-C			Likely benign (Nov 01, 2024)
18-47033559-C-A		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELOA2	protein_coding	protein_coding	ENST00000332567	1	3046

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.32	656	456	1.44	0.0000336	4858
Missense in Polyphen		161	111.03	1.4501		1293
Synonymous	-2.85	251	200	1.26	0.0000167	1548
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• 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 A2 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). {ECO:0000269|PubMed:10692460}.
• Pathway: Disease;Gene expression (Transcription);Formation of HIV-1 elongation complex containing HIV-1 Tat;Tat-mediated elongation of the HIV-1 transcript;HIV Transcription Elongation;HIV elongation arrest and recovery;Formation of HIV elongation complex in the absence of HIV Tat;Pausing and recovery of HIV elongation;Generic Transcription Pathway;Tat-mediated HIV elongation arrest and recovery;Pausing and recovery of Tat-mediated HIV elongation;Transcription of the HIV genome;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;RNA Polymerase II Pre-transcription Events;Formation of RNA Pol II elongation complex ;RNA Polymerase II Transcription;Infectious disease;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Transcriptional Regulation by TP53 (Consensus)

Intolerance Scores

• rvis_EVS: 2.28
• rvis_percentile_EVS: 98.26

Haploinsufficiency Scores

• pHI: 0.0444
• hipred: N
• hipred_score: 0.276
• ghis: 0.433

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;transcription elongation from RNA polymerase II promoter;regulation of DNA-templated transcription, elongation
• Cellular component: nucleoplasm;elongin complex
• Molecular function: protein binding