NIBAN2

protein-coding

niban apoptosis regulator 2

Gene summary

Enables transcription coactivator activity. Involved in several processes, including gonadotropin secretion; negative regulation of DNA biosynthetic process; and regulation of DNA-templated transcription. Located in several cellular components, including adherens junction; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C9orf88
FAM129B

MANE transcript

NM_022833.4

Inheritance

—

ClinVar variants

U:153B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr9:127,505,339-127,578,989

External References & Databases

Ensembl (ENSG00000136830)

Transcript & Mutation Effects

hg38 • Region Span ~73.7 kb

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GenCC 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 NIBAN2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 151

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022833.4. 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				2 clinvar		2
missense			147 clinvar	5 clinvar		152
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	153	7	0	160

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022833.4	RefSeq	NP_073744.2	14	MANE Select
ENST00000373312.4	Ensembl	ENSP00000362409.3	14	MANE Select
NM_001035534.3	RefSeq	NP_001030611.1	14	Standard
ENST00000373314.7	Ensembl	ENSP00000362411.3	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

axon guidance
negative regulation of cell population proliferation
negative regulation of angiogenesis
cell differentiation
negative regulation of vascular endothelial growth factor receptor signaling pathway

Molecular Function

transcription coactivator activity
cadherin binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373312
Coding exons: 14
Length: 73651
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 42
Defined: 125748
p: 0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.419	445	471	0.946	0.0000309	4835
Missense (PolyPhen)		129	159.39	0.80931		1595
Synonymous	0.688	206	219	0.941	0.0000161	1485
Loss of Function	4.44	12	43.6	0.275	0.00000273	408

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00036	0.00033	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00025	0.00022	rare
South Asian	0.00010	0.000098	rare
Other	0.00068	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro. {ECO:0000269|PubMed:19362540, ECO:0000269|PubMed:21148485}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.717
RVIS EVS: -1.35
RVIS percentile EVS: 4.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.996

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium