NRBP2

protein-coding

nuclear receptor binding protein 2, the group of MicroRNA protein coding host genes

Gene summary

Predicted to enable protein serine/threonine kinase activity. Involved in negative regulation of macroautophagy. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_178564.4

Inheritance

—

ClinVar variants

U:93B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr8:143,833,583-143,840,973

External References & Databases

Ensembl (ENSG00000185189)

Transcript & Mutation Effects

hg38 • Region Span ~7.4 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 NRBP2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 77

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178564.4. 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			4 clinvar	1 clinvar		5
missense			79 clinvar			79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	93	1	0	94

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178564.4	RefSeq	NP_848659.2	18	MANE Select
ENST00000442628.7	Ensembl	ENSP00000414055.2	18	MANE Select
ENST00000530123.1	Ensembl	ENSP00000431280.1	4	Standard
ENST00000530347.1	Ensembl	ENSP00000432374.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
endoplasmic reticulum to Golgi vesicle-mediated transport
negative regulation of macroautophagy
neuron differentiation
intracellular signal transduction

Molecular Function

protein serine/threonine kinase activity
ATP binding

Cellular Component

cytoplasm
endomembrane system

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000442628
Coding exons: 18
Length: 8437
Individuals with no LoFs: 125299
Homozygous LoFs: 0
Heterozygous LoFs: 6
Defined: 125305
p: 0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.92	212	307	0.691	0.0000203	3248
Missense (PolyPhen)		54	109.97	0.49105		1202
Synonymous	-0.801	140	128	1.09	0.00000924	947
Loss of Function	3.57	9	30.2	0.298	0.00000157	338

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000072	0.000062	rare
Latino/Admixed American	0.000031	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000029	0.000026	rare
South Asian	0	0.0	absent
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate apoptosis of neural progenitor cells during their differentiation. {ECO:0000250}.;

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.803

Gene Damage Prediction

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