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NINJ2 ninjurin 2 [ Homo sapiens (human) ]

Gene ID: 4815, updated on 2-Nov-2024

Summary

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Official Symbol
NINJ2provided by HGNC
Official Full Name
ninjurin 2provided by HGNC
Primary source
HGNC:HGNC:7825
See related
Ensembl:ENSG00000171840 MIM:607297; AllianceGenome:HGNC:7825
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]
Expression
Broad expression in lung (RPKM 12.3), bone marrow (RPKM 6.0) and 21 other tissues See more
Orthologs
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Genomic context

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See NINJ2 in Genome Data Viewer
Location:
12p13.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (564296..663445, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (560261..659273, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (673462..772611, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902853 Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:610726-611441 Neighboring gene uncharacterized LOC124902852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:618531-619104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:619948-620594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:643601-644100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:647445-648174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:648175-648904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:651093-651821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:651822-652550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:655449-655983 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:671915-672416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:674581-675082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:675083-675582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:681299-681927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:685261-685762 Neighboring gene Sharpr-MPRA regulatory region 2537 Neighboring gene uncharacterized LOC105369595 Neighboring gene RNA, U7 small nuclear 103 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:717809-718326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:718327-718843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:719097-719598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732135-732879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732880-733623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4105 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:754531-755730 Neighboring gene Sharpr-MPRA regulatory region 6322 Neighboring gene NINJ2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:775809-776308 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:780043-780251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5786 Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene CRISPRi-validated cis-regulatory element chr12.51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5790 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:861758-862476 and GRCh37_chr12:862477-863195 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NINJ2 Gene Polymorphisms and Susceptibility to Ischemic Stroke: An Updated Meta-Analysis. Nie F, et al. Curr Neurovasc Res, 2019. PMID 31258083
  2. NINJ2 polymorphism is associated with ischemic stroke in Chinese Han population. Wan XH, et al. J Neurol Sci, 2011 Sep 15. PMID 21722921
  3. Association between 12p13 SNPs rs11833579/rs12425791 near NINJ2 gene and ischemic stroke in East Asian population: evidence from a meta-analysis. Li BH, et al. J Neurol Sci, 2012 May 15. PMID 22297388
  4. NINJ2 SNP may affect the onset age of first-ever ischemic stroke without increasing silent cerebrovascular lesions. Kim DE, et al. BMC Res Notes, 2012 Mar 20. PMID 22429733, Free PMC Article
  5. The rs11833579 and rs12425791 polymorphisms and risk of ischemic stroke in an Asian population: a meta-analysis. Lian G, et al. Thromb Res, 2012 Sep. PMID 22795341

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effects of Ninjurin 2 polymorphisms on susceptibility to coronary heart disease.
    Title: Effects of Ninjurin 2 polymorphisms on susceptibility to coronary heart disease.
  2. Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis.
    Title: Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis.
  3. Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis.
    Title: Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis.
  4. Functional rare variant in a C/EBP beta binding site in NINJ2 gene increases the risk of coronary artery disease.
    Title: Functional rare variant in a C/EBPbeta binding site in NINJ2 gene increases the risk of coronary artery disease.
  5. Assessment of Association between NINJ2 Polymorphisms and Suicide Attempts in an Iranian Population.
    Title: Assessment of Association between NINJ2 Polymorphisms and Suicide Attempts in an Iranian Population.
  6. Associations Between Two Single-Nucleotide Polymorphisms in NINJ2 Gene and Risk of Psychiatric Disorders.
    Title: Associations Between Two Single-Nucleotide Polymorphisms in NINJ2 Gene and Risk of Psychiatric Disorders.
  7. Ninjurin2 overexpression promotes glioma cell growth.
    Title: Ninjurin2 overexpression promotes glioma cell growth.
  8. NINJ2 Gene Polymorphisms and Susceptibility to Ischemic Stroke: An Updated Meta-Analysis.
    Title: NINJ2 Gene Polymorphisms and Susceptibility to Ischemic Stroke: An Updated Meta-Analysis.
  9. Role of NINJ2 as a risk locus for ischemic stroke in Iranian population.
    Title: Genetic variants within Ninjurin 2 gene are associated with risk of ischemic stroke in Iranian population.
  10. The current research suggests contribution of NINJ2 in the pathogenesis of multiple sclerosis.
    Title: A single nucleotide polymorphism within Ninjurin 2 is associated with risk of multiple sclerosis.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomewide association studies of stroke.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ56349

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables membrane destabilizing activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in cytolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in neuron cell-cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in tissue regeneration IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ninjurin-2
Names
nerve injury-induced protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001294345.2 → NP_001281274.1  ninjurin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon which results in a different 5' UTR and causes translation initiation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter, compared to isoform 1.
    Source sequence(s)
    AC006205, AF205633, BM128205, CB995632
    Consensus CDS
    CCDS73418.1
    UniProtKB/TrEMBL
    F8WBZ3
    Related
    ENSP00000380435.3, ENST00000397265.7
    Conserved Domains (1) summary
    pfam04923
    Location:18 → 118
    Ninjurin; Ninjurin

  2. NM_001294346.2 → NP_001281275.1  ninjurin-2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon which results in a different 5' UTR and causes translation initiation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 both encode the same isoform (3).
    Source sequence(s)
    AF205633, CD695373, R06312
    Consensus CDS
    CCDS76499.1
    UniProtKB/TrEMBL
    F5H3L1
    Related
    ENSP00000438831.1, ENST00000542920.1
    Conserved Domains (1) summary
    pfam04923
    Location:1 → 89
    Ninjurin

  3. NM_001367996.1 → NP_001354925.1  ninjurin-2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform 3.
    Source sequence(s)
    AC006205, AC021054
    Consensus CDS
    CCDS76499.1
    UniProtKB/TrEMBL
    F5H3L1
    Conserved Domains (1) summary
    pfam04923
    Location:1 → 89
    Ninjurin

  4. NM_016533.6 → NP_057617.3  ninjurin-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC006205, AC021054, AF205633
    Consensus CDS
    CCDS8505.2
    UniProtKB/Swiss-Prot
    Q9NZG7
    Related
    ENSP00000307552.5, ENST00000305108.10

RNA

  1. NR_160428.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006205, AC021054

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    564296..663445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    560261..659273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZG7.1 GenPept UniProtKB/Swiss-Prot:Q9NZG7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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