Gene Gene information from NCBI Gene database.
Entrez ID 4814
Gene name Ninjurin 1
Gene symbol NINJ1
Synonyms (NCBI Gene)
NIN1NINJURINhNINJ1
Chromosome 9
Chromosome location 9q22.31
Summary The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from
miRNA miRNA information provided by mirtarbase database.
546
miRTarBase ID miRNA Experiments Reference
MIRT026972 hsa-miR-107 Microarray 20489155
MIRT709786 hsa-miR-27a-5p HITS-CLIP 19536157
MIRT709783 hsa-miR-4417 HITS-CLIP 19536157
MIRT709784 hsa-miR-1206 HITS-CLIP 19536157
MIRT709781 hsa-miR-6853-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001530 Function Lipopolysaccharide binding IDA 26677008
GO:0002232 Process Leukocyte chemotaxis involved in inflammatory response IDA 22162058
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005576 Component Extracellular region IDA 32883094
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602062 7824 ENSG00000131669
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92982
Protein name Ninjurin-1 (hNINJ1) (Nerve injury-induced protein 1) [Cleaved into: Secreted ninjurin-1 (Soluble ninjurin-1)]
Protein function [Ninjurin-1]: Effector of various programmed cell death, such as pyroptosis and necroptosis, which mediates plasma membrane rupture (cytolysis) (PubMed:33472215, PubMed:36468682, PubMed:37196676, PubMed:37198476, PubMed:38614101, PubMed:39667936
PDB 8CQR , 8SZA , 8UIP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04923 Ninjurin 38 139 Ninjurin Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in both adult and embryonic tissues, primarily those of epithelial origin. {ECO:0000269|PubMed:8780658}.
Sequence
Sequence length 152
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 27815839
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 31091274
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 30700695
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26815582
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29177697
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31906747 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis, Allergic Contact Dermatitis CTD_human_DG 17374397
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Diabetes Mellitus BEFREE 29263137
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 37986381 Associate
★☆☆☆☆
Found in Text Mining only
Endometrioma Endometrioma BEFREE 30326781
★☆☆☆☆
Found in Text Mining only