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RTN2 reticulon 2 [ Homo sapiens (human) ]

Gene ID: 6253, updated on 3-Apr-2024

Summary

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Official Symbol
RTN2provided by HGNC
Official Full Name
reticulon 2provided by HGNC
Primary source
HGNC:HGNC:10468
See related
Ensembl:ENSG00000125744 MIM:603183; AllianceGenome:HGNC:10468
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NSP2; NSPL1; NSPLI; SPG12
Summary
This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]
Expression
Broad expression in brain (RPKM 9.6), placenta (RPKM 7.1) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45485294..45497047, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48312543..48326854, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45988552..46000305, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45971355-45972256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14799 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene tRNA-SeC (anticodon TCA) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10774 Neighboring gene uncharacterized LOC107985314 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46010402-46011186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10779 Neighboring gene vasodilator stimulated phosphoprotein Neighboring gene uncharacterized LOC107985315 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46025801-46026353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10780

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. O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression. Wang G, et al. Cell Signal, 2023 Aug. PMID 37196774
  2. RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer. Zheng X, et al. Mol Med Rep, 2022 Nov. PMID 36177918, Free PMC Article
  3. New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12. Tian W, et al. Ann Clin Transl Neurol, 2022 Aug. PMID 35684947, Free PMC Article
  4. Role of host reticulon proteins in rearranging membranes for positive-strand RNA virus replication. Diaz A, et al. Curr Opin Microbiol, 2012 Aug. PMID 22621853, Free PMC Article
  5. Clinical and genetic study of a large Italian family linked to SPG12 locus. Orlacchio A, et al. Neurology, 2002 Nov 12. PMID 12427890

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
    Title: O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
  2. RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer.
    Title: RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer.
  3. New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
    Title: New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
  4. Results implicate reticulon 2 in axonopathy, show that this protein participates in a network of interactions among hereditary spastic paraplegia proteins involved in endoplasmic reticulum shaping.
    Title: Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
  5. Discusses cloning of mouse neuroendocrine-specific protein-like 1, in addition to partial cloning of the human ortholog. Also studies expression of both the mouse and human genes.
    Title: Molecular cloning of a novel mouse gene with predominant muscle and neural expression.
  6. sk-NSPl1 is a novel dantrolene receptor that plays an important role in membrane translocation of GLUT4 induced by contraction/exercise. The 23-kDa sk-NSPl1 may also be involved in the regulation of glucose levels in the whole body.
    Title: Functional role of neuroendocrine-specific protein-like 1 in membrane translocation of GLUT4.
  7. RTN2B functions as a positive regulator in the delivery of EAAC1 from the ER to the cell surface.
    Title: Reticulon RTN2B regulates trafficking and function of neuronal glutamate transporter EAAC1.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Hereditary spastic paraplegia 12
MedGen: C1858106 OMIM: 604805 GeneReviews: Not available
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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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of reticulon 2 (RTN2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within intracellular protein transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of glucose import ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in T-tubule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intermediate filament ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sarcoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in terminal cisterna ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
reticulon-2
Names
NSP-like protein 1
NSP-like protein I
neuroendocrine-specific protein-like I

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.

Genomic

  1. NG_032157.1 RefSeqGene

    Range
    5007..16760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005619.5 → NP_005610.1  reticulon-2 isoform A

    See identical proteins and their annotated locations for NP_005610.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (A).
    Source sequence(s)
    AF004222, BC073874, BK001687
    Consensus CDS
    CCDS12665.1
    UniProtKB/Swiss-Prot
    O60509, O75298, Q7RTM6, Q7RTN1, Q7RTN2
    UniProtKB/TrEMBL
    Q6GMT0
    Related
    ENSP00000245923.3, ENST00000245923.9
    Conserved Domains (1) summary
    pfam02453
    Location:345 → 509
    Reticulon; Reticulon

  2. NM_206900.3 → NP_996783.1  reticulon-2 isoform B

    See identical proteins and their annotated locations for NP_996783.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (B), that is missing an internal segment compared to isoform A.
    Source sequence(s)
    BC073874, BK001688
    Consensus CDS
    CCDS12666.1
    UniProtKB/TrEMBL
    A8K7F2
    Related
    ENSP00000345127.3, ENST00000344680.8
    Conserved Domains (1) summary
    pfam02453
    Location:272 → 436
    Reticulon; Reticulon

  3. NM_206901.3 → NP_996784.1  reticulon-2 isoform C

    See identical proteins and their annotated locations for NP_996784.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (C) has a shorter N-terminus when compared to isoform A, and is presumably transcribed from an internal promoter.
    Source sequence(s)
    AC138534, AF004224, DA898294
    Consensus CDS
    CCDS46114.1
    UniProtKB/Swiss-Prot
    O75298
    UniProtKB/TrEMBL
    A8K7F2
    Related
    ENSP00000398178.1, ENST00000430715.6
    Conserved Domains (1) summary
    pfam02453
    Location:5 → 169
    Reticulon; Reticulon

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45485294..45497047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48312543..48326854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321705.1 → XP_054177680.1  reticulon-2 isoform X2

  2. XM_054321704.1 → XP_054177679.1  reticulon-2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_206902.1: Suppressed sequence

    Description
    NM_206902.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75298.1 GenPept UniProtKB/Swiss-Prot:O75298

Gene LinkOut

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