NINJ2

ninjurin 2

Basic information

Region (hg38): 12:564295-663589

Links

ENSG00000171840 ∙ NCBI:4815 ∙ OMIM:607297 ∙ HGNC:7825 ∙ Uniprot:Q9NZG7 ∙ 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 NINJ2 gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NINJ2 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				1		1
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in NINJ2

This is a list of pathogenic ClinVar variants found in the NINJ2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-565321-T-C		not specified	Uncertain significance (Feb 28, 2023)
12-565345-C-A		not specified	Uncertain significance (Jan 23, 2024)
12-565365-C-T		not specified	Uncertain significance (Sep 14, 2021)
12-565372-G-T		not specified	Uncertain significance (Dec 21, 2022)
12-565380-A-G		not specified	Uncertain significance (Jan 08, 2024)
12-565381-C-T		not specified	Uncertain significance (Jan 30, 2024)
12-565398-C-G		not specified	Uncertain significance (Apr 08, 2022)
12-565958-A-G		not specified	Uncertain significance (Oct 26, 2022)
12-565994-G-T		not specified	Uncertain significance (Jun 02, 2023)
12-566004-T-C		not specified	Uncertain significance (Dec 11, 2023)
12-566058-C-T		not specified	Uncertain significance (Dec 15, 2023)
12-566110-C-T			Likely benign (Aug 01, 2022)
12-566132-T-A		not specified	Uncertain significance (Apr 27, 2022)
12-663453-T-C		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NINJ2	protein_coding	protein_coding	ENST00000305108	3	99484

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00107	0.623	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0259	120	119	1.01	0.00000733	1206
Missense in Polyphen		37	33.493	1.1047		384
Synonymous	-1.30	66	53.9	1.22	0.00000371	412
Loss of Function	0.569	5	6.57	0.761	3.63e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000474	0.000474
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000218	0.000217
South Asian	0.000261	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.443
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.146
• ghis: 0.480

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.327

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ninj2
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: neuron cell-cell adhesion;nervous system development;tissue regeneration
• Cellular component: integral component of plasma membrane
• Molecular function: protein binding