NKAIN3

sodium/potassium transporting ATPase interacting 3, the group of Na+/K+ transporting ATPase interacting

Basic information

Region (hg38): 8:62248590-63014000

Previous symbols: [ "FAM77D", "NKAIN3-IT1" ]

Links

ENSG00000185942 ∙ NCBI:286183 ∙ OMIM:612872 ∙ HGNC:26829 ∙ Uniprot:Q8N8D7 ∙ 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 NKAIN3 gene.

• Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKAIN3 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			3			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in NKAIN3

This is a list of pathogenic ClinVar variants found in the NKAIN3 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-62249126-T-C		not specified	Uncertain significance (Jul 19, 2023)
8-62747010-G-A		not specified	Uncertain significance (Jul 14, 2021)
8-62747016-C-A		not specified	Uncertain significance (Nov 21, 2022)
8-62990188-T-C		not specified	Uncertain significance (Sep 01, 2021)
8-62990219-T-C		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NKAIN3	protein_coding	protein_coding	ENST00000523211	6	751062

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0539	0.928	124632	0	7	124639	0.0000281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	66	102	0.648	0.00000495	1270
Missense in Polyphen		38	53.937	0.70453		686
Synonymous	0.573	33	37.5	0.881	0.00000206	364
Loss of Function	2.06	4	11.6	0.346	5.53e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000713	0.0000713
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000764	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.0000764	0.0000556
South Asian	0.0000655	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.455
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.191
• hipred: N
• hipred_score: 0.402
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nkain3

Gene ontology

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