NIBAN2

Chr 9

niban apoptosis regulator 2

Also known as: C9orf88, FAM129B, MEG-3, MINERVA, OC58, bA356B19.6

NCBI Gene: 64855ENSG00000136830UniProt: Q96TA1

Enables transcription coactivator activity. Involved in several processes, including gonadotropin secretion; negative regulation of apoptotic process; and regulation of nucleobase-containing compound metabolic process. Located in several cellular components, including adherens junction; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

213
ClinVar variants
38
Pathogenic / LP
0.02
pLI score
2
Active trials
Clinical Summary— NIBAN2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 148 VUS of 213 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.45LOEUF
pLI 0.017
Z-score 4.44
OE 0.28 (0.17–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.42Z-score
OE missense 0.95 (0.87–1.02)
445 obs / 470.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.28 (0.17–0.45)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.87–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 12 / 43.6Missense obs/exp: 445 / 470.6Syn Z: 0.69

ClinVar Variant Classifications

213 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic1
VUS148
Likely Benign8
37
Pathogenic
1
Likely Pathogenic
148
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
37
0
37
Likely Pathogenic
0
0
1
0
1
VUS
0
144
4
0
148
Likely Benign
0
5
1
2
8
Benign
0
0
0
0
0
Total0149432194

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NIBAN2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Upper Urinary Tract Urothelial CarcinomaBladder Cancer

Single-Dose Intravesical Chemotherapy After Diagnostic URS

NOT YET RECRUITING
NCT05810623Phase PHASE3David D'AndreaStarted 2023-06-01
Intravesical Solution
Pancreatic Adenocarcinoma Resectable

Adjuvant Pancreatic Therapy Guided by MRD

RECRUITING
NCT06966440Phase NARuijin HospitalStarted 2025-06-01
circulating tumor DNA (ctDNA)-based MRDadjuvant chemotherapy regimens

External Resources

Links to major genomics databases and tools