NKAIN4

sodium/potassium transporting ATPase interacting 4, the group of Na+/K+ transporting ATPase interacting

Basic information

Region (hg38): 20:63240783-63272694

Previous symbols: [ "C20orf58" ]

Links

ENSG00000101198 ∙ NCBI:128414 ∙ OMIM:612873 ∙ HGNC:16191 ∙ Uniprot:Q8IVV8 ∙ 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 NKAIN4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKAIN4 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						0
missense			22	3		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	3	0

Variants in NKAIN4

This is a list of pathogenic ClinVar variants found in the NKAIN4 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-63241501-G-A		not specified	Uncertain significance (Mar 02, 2023)
20-63242614-A-G		not specified	Uncertain significance (May 31, 2023)
20-63244041-G-A		not specified	Uncertain significance (Apr 08, 2023)
20-63244049-G-T		not specified	Uncertain significance (Jan 30, 2024)
20-63244068-C-G		not specified	Uncertain significance (Oct 04, 2022)
20-63247591-T-C		not specified	Uncertain significance (Dec 17, 2023)
20-63247601-T-C		not specified	Uncertain significance (Feb 23, 2023)
20-63247630-A-G		not specified	Uncertain significance (Sep 12, 2023)
20-63247655-G-C		not specified	Uncertain significance (Mar 24, 2023)
20-63247670-G-A		not specified	Uncertain significance (Apr 01, 2024)
20-63247672-G-T		not specified	Uncertain significance (Aug 10, 2021)
20-63247676-C-T		not specified	Uncertain significance (Oct 26, 2022)
20-63247720-C-T		not specified	Likely benign (Aug 22, 2023)
20-63247722-C-A		not specified	Uncertain significance (Jun 03, 2022)
20-63247733-A-T		not specified	Uncertain significance (Mar 19, 2024)
20-63247738-C-T		not specified	Uncertain significance (Nov 21, 2023)
20-63247775-C-T		not specified	Uncertain significance (Mar 25, 2022)
20-63248853-T-C		not specified	Uncertain significance (May 27, 2022)
20-63248855-A-G		not specified	Uncertain significance (Jan 03, 2022)
20-63248877-C-T		not specified	Likely benign (Oct 10, 2023)
20-63249943-C-T		not specified	Likely benign (Dec 20, 2023)
20-63249948-C-T		not specified	Uncertain significance (Oct 13, 2023)
20-63249949-G-A		not specified	Uncertain significance (Dec 13, 2022)
20-63249954-C-T		not specified	Uncertain significance (Dec 21, 2022)
20-63250011-G-T		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NKAIN4	protein_coding	protein_coding	ENST00000370316	7	31911

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00731	0.930	125716	0	23	125739	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0623	110	108	1.02	0.00000655	1315
Missense in Polyphen		37	36.115	1.0245		493
Synonymous	0.692	41	47.0	0.872	0.00000299	417
Loss of Function	1.60	5	10.6	0.470	4.54e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000916	0.0000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000542	0.0000527
Middle Eastern	0.0000545	0.0000544
South Asian	0.000473	0.000425
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.681
• rvis_EVS: 1.1
• rvis_percentile_EVS: 91.96

Haploinsufficiency Scores

• pHI: 0.0924
• hipred: N
• hipred_score: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0756

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nkain4

Gene ontology

• Biological process: regulation of sodium ion transport
• Cellular component: plasma membrane;integral component of membrane