NRIP2

nuclear receptor interacting protein 2, the group of Peptidase family A28

Basic information

Region (hg38): 12:2825348-2835544

Links

ENSG00000053702 ∙ NCBI:83714 ∙ ∙ HGNC:23078 ∙ Uniprot:Q9BQI9 ∙ 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 NRIP2 gene.

• not_specified (59 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRIP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031474.3. 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			56	3		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRIP2	protein_coding	protein_coding	ENST00000337508	6	10197

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.63e-10	0.0612	125522	0	225	125747	0.000895

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.04	200	163	1.23	0.00000907	1800
Missense in Polyphen		55	52.377	1.0501		544
Synonymous	-0.569	75	69.0	1.09	0.00000381	582
Loss of Function	-0.0258	15	14.9	1.01	7.34e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00157	0.00157
Ashkenazi Jewish	0.00	0.00
East Asian	0.000871	0.000870
Finnish	0.000462	0.000462
European (Non-Finnish)	0.00127	0.00126
Middle Eastern	0.000871	0.000870
South Asian	0.000296	0.000294
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Down-regulates transcriptional activation by nuclear receptors such as NR1F2. {ECO:0000250}.

Recessive Scores

• pRec: 0.0868

Intolerance Scores

• loftool: 0.369
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

• pHI: 0.0742
• hipred: N
• hipred_score: 0.147
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.641

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nrip2

Gene ontology

• Biological process: proteolysis
• Cellular component: nucleus;cytoplasm
• Molecular function: aspartic-type endopeptidase activity;protein binding