NRK

protein-coding

Nik related kinase

Gene summary

The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]

MANE transcript

NM_198465.4

Inheritance

—

ClinVar variants

U:283B:24

Top phenotype

NRK-related condition

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chrX:105,822,539-105,958,610

External References & Databases

Ensembl (ENSG00000123572)

Transcript & Mutation Effects

hg38 • Region Span ~136.1 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 NRK variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 174

not providedTotal: 19

NRK-related conditionTotal: 2

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198465.4. 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			16 clinvar	8 clinvar	2 clinvar	26
missense			228 clinvar	10 clinvar	4 clinvar	242
nonsense			15 clinvar			15
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			24 clinvar			24
Total	0	0	283	18	6	307

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198465.4	RefSeq	NP_940867.2	29	MANE Select
ENST00000243300.14	Ensembl	ENSP00000434830.1	29	MANE Select
ENST00000428173.3	Ensembl	ENSP00000438378.2	12	Standard
ENST00000536164.5	Ensembl	ENSP00000438785.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

NAD+ metabolism
TNF receptor signaling pathway

Biological Process

MAPK cascade
activation of JNKK activity
parturition
negative regulation of cell population proliferation
signal transduction by protein phosphorylation

Molecular Function

protein serine/threonine kinase activity
ATP binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000428173
Coding exons: 29
Length: 136067
Individuals with no LoFs: 124606
Homozygous LoFs: 7
Heterozygous LoFs: 6
Defined: 124619
p: 0.0000522

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.660	481	524	0.919	0.0000385	10260
Missense (PolyPhen)		142	176.76	0.80334		3614
Synonymous	0.892	174	190	0.918	0.0000136	3026
Loss of Function	5.70	9	54.4	0.165	0.00000437	990

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000073	0.000058	rare
Ashkenazi Jewish	0.00014	0.000099	rare
East Asian	0.00015	0.00011	rare
Finnish	0.00014	0.000093	rare
European (Non-Finnish)	0.000051	0.000035	rare
South Asian	0.00011	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.312

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0872

Gene Damage Prediction

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