NKIRAS2

NFKB inhibitor interacting Ras like 2, the group of RAS type GTPase family

Basic information

Region (hg38): 17:42011382-42025644

Links

ENSG00000168256 ∙ NCBI:28511 ∙ OMIM:604497 ∙ HGNC:17898 ∙ Uniprot:Q9NYR9 ∙ 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 NKIRAS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKIRAS2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2		2	4
Total	0	0	13	2	2

Variants in NKIRAS2

This is a list of pathogenic ClinVar variants found in the NKIRAS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-42017395-C-A		not specified	Uncertain significance (May 24, 2023)
17-42017406-G-A		not specified	Uncertain significance (Aug 06, 2024)
17-42017501-G-T			Benign (May 11, 2021)
17-42017942-G-A			Benign (May 11, 2021)
17-42021602-G-A		not specified	Uncertain significance (Mar 07, 2023)
17-42022411-T-C		not specified	Uncertain significance (Mar 20, 2023)
17-42022434-G-A		not specified	Uncertain significance (Feb 19, 2025)
17-42022443-A-G		not specified	Uncertain significance (Dec 12, 2023)
17-42022472-G-A		not specified	Likely benign (Dec 19, 2023)
17-42022491-C-T		not specified	Uncertain significance (Dec 19, 2022)
17-42022512-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-42022590-C-T		not specified	Uncertain significance (Jun 18, 2021)
17-42022593-G-A		not specified	Uncertain significance (Jan 03, 2025)
17-42022621-A-C		not specified	Uncertain significance (Oct 30, 2023)
17-42023689-A-G		not specified	Likely benign (Sep 02, 2024)
17-42023699-C-T		not specified	Uncertain significance (Nov 09, 2024)
17-42023784-C-T		not specified	Uncertain significance (Feb 16, 2023)
17-42023819-A-G		not specified	Uncertain significance (Dec 10, 2024)
17-42023843-G-T		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NKIRAS2	protein_coding	protein_coding	ENST00000307641	3	14260

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00672	0.923	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	91	123	0.739	0.00000802	1236
Missense in Polyphen		28	48.414	0.57835		512
Synonymous	-0.653	57	51.1	1.12	0.00000322	382
Loss of Function	1.56	5	10.4	0.479	6.99e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000123	0.000123
Middle Eastern	0.000163	0.000163
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF- kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity). {ECO:0000250}.
• Pathway: Toll Like Receptor 7/8 (TLR7/8) Cascade;Signaling by Interleukins;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;ZBP1(DAI) mediated induction of type I IFNs;Toll-Like Receptors Cascades;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Interleukin-1 signaling;Innate Immune System;Immune System;RIP-mediated NFkB activation via ZBP1;TAK1 activates NFkB by phosphorylation and activation of IKKs complex;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome;TNFalpha;Cytosolic sensors of pathogen-associated DNA ;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Interleukin-1 family signaling (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.670
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.159
• hipred: Y
• hipred_score: 0.716
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nkiras2

Gene ontology

• Biological process: I-kappaB kinase/NF-kappaB signaling
• Cellular component: cellular_component;cytoplasm;membrane
• Molecular function: GTPase activity;GTP binding