NOSTRIN

nitric oxide synthase trafficking, the group of F-BAR domain containing

Basic information

Region (hg38): 2:168786538-168865514

Links

ENSG00000163072 ∙ NCBI:115677 ∙ OMIM:607496 ∙ HGNC:20203 ∙ Uniprot:Q8IVI9 ∙ 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 NOSTRIN gene.

• Inborn genetic diseases (11 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOSTRIN 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			11	2	2	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	2	2

Variants in NOSTRIN

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

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

Position	Type	Phenotype	Significance	ClinVar
2-168811612-G-A			Likely benign (Aug 15, 2018)
2-168834321-G-A			Benign (Jul 06, 2018)
2-168851280-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-168851286-C-T		not specified	Uncertain significance (Jul 05, 2022)
2-168851322-A-G		not specified	Uncertain significance (Jan 23, 2024)
2-168851328-A-T		not specified	Uncertain significance (Nov 08, 2022)
2-168851367-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-168856702-T-C		not specified	Uncertain significance (Aug 10, 2021)
2-168856757-C-G		not specified	Uncertain significance (Sep 27, 2021)
2-168856770-A-G		not specified	Uncertain significance (Dec 21, 2023)
2-168859599-C-T		not specified	Uncertain significance (May 25, 2022)
2-168859617-A-G		not specified	Uncertain significance (Aug 23, 2021)
2-168860822-T-A		not specified	Uncertain significance (Mar 04, 2024)
2-168860825-C-T		not specified	Conflicting classifications of pathogenicity (Sep 16, 2021)
2-168860907-C-T			Benign (Mar 29, 2018)
2-168861971-G-A		not specified	Uncertain significance (Apr 12, 2022)
2-168861998-G-T		not specified	Uncertain significance (Sep 15, 2022)
2-168864854-G-A		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOSTRIN	protein_coding	protein_coding	ENST00000444448	17	78976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.20e-16	0.130	124731	0	64	124795	0.000256

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.644	247	277	0.891	0.0000131	3718
Missense in Polyphen		66	76.63	0.86129		1152
Synonymous	-0.0703	103	102	1.01	0.00000533	966
Loss of Function	1.11	28	35.1	0.798	0.00000168	456

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000341	0.000341
Ashkenazi Jewish	0.00	0.00
East Asian	0.000279	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.000347	0.000327
Middle Eastern	0.000279	0.000278
South Asian	0.000428	0.000425
Other	0.000332	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Multivalent adapter protein which may decrease NOS3 activity by inducing its translocation away from the plasma membrane. {ECO:0000269|PubMed:12446846, ECO:0000269|PubMed:16234328, ECO:0000269|PubMed:16807357}.
• Pathway: Metabolism of nitric oxide;NOSTRIN mediated eNOS trafficking;eNOS activation and regulation;Metabolism (Consensus)

Recessive Scores

• pRec: 0.0789

Intolerance Scores

• loftool: 0.971
• rvis_EVS: 1.29
• rvis_percentile_EVS: 93.8

Haploinsufficiency Scores

• pHI: 0.321
• hipred: N
• hipred_score: 0.170
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nostrin
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: nostrin
• Affected structure: endothelial tip cell
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: endocytosis;negative regulation of transcription, DNA-templated;regulation of nitric-oxide synthase activity
• Cellular component: cytoskeleton;plasma membrane;nuclear speck;endocytic vesicle membrane
• Molecular function: DNA binding;protein binding