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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
    • 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)

    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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