NRBP2

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

Basic information

Region (hg38): 8:143833583-143840973

Links

ENSG00000185189 ∙ NCBI:340371 ∙ OMIM:615563 ∙ HGNC:19339 ∙ Uniprot:Q9NSY0 ∙ 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 NRBP2 gene.

• not_specified (66 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRBP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178564.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			66			66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRBP2	protein_coding	protein_coding	ENST00000442628	18	8437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0156	0.984	125299	0	6	125305	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.92	212	307	0.691	0.0000203	3248
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000103	0.0000933
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000286	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000175	0.000164

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.140
• hipred: N
• hipred_score: 0.234
• ghis: 0.545

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.803

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nrbp2

Gene ontology

• Biological process: protein phosphorylation;endoplasmic reticulum to Golgi vesicle-mediated transport;negative regulation of macroautophagy;neuron differentiation;intracellular signal transduction;negative regulation of neuron apoptotic process
• Cellular component: cytoplasm;endomembrane system
• Molecular function: protein serine/threonine kinase activity;ATP binding