TCEANC2

Chr 1

transcription elongation factor A N-terminal and central domain containing 2

Also known as: C1orf83

The protein is predicted to regulate transcription by RNA polymerase II in the nucleus. This gene is not well-constrained against loss-of-function variants (LOEUF 1.666), and no established disease associations are documented in the provided data. Clinical significance of variants in TCEANC2 remains uncertain pending further characterization.

ResearchSummary from RefSeq
DNmechanismLOEUF 1.67
Clinical SummaryTCEANC2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.67LOEUF
pLI 0.000
Z-score -0.02
OE 1.01 (0.621.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.29Z-score
OE missense 0.92 (0.791.09)
107 obs / 115.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.01 (0.621.67)
00.351.4
Missense OE0.92 (0.791.09)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 10 / 9.9Missense obs/exp: 107 / 115.7Syn Z: 0.65
DN
0.6552th %ile
GOF
0.4972th %ile
LOF
0.3550th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TCEANC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC