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RTN2 reticulon 2 [ Homo sapiens (human) ]

Gene ID: 6253, updated on 3-Jun-2018
Official Symbol
RTN2provided by HGNC
Official Full Name
reticulon 2provided by HGNC
Primary source
HGNC:HGNC:10468
See related
Ensembl:ENSG00000125744 MIM:603183; Vega:OTTHUMG00000182123
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 necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]
Expression
Broad expression in brain (RPKM 9.6), placenta (RPKM 7.1) and 22 other tissues See more
Orthologs
See RTN2 in Genome Data Viewer
Location:
19q13.32
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (45485288..45497055, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45988546..46000313, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene microRNA 6088 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene uncharacterized LOC107985314 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) Neighboring gene vasodilator stimulated phosphoprotein Neighboring gene uncharacterized LOC107985315

  • 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 Jun 15 11:32:44 2016

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of glucose import IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
terminal cisterna IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
reticulon-2
Names
NSP-like protein 1
NSP-like protein I
neuroendocrine-specific protein-like I

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
    4999..16766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005619.4NP_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, AI971392, AK291967, BC073874, BK001687
    Consensus CDS
    CCDS12665.1
    UniProtKB/Swiss-Prot
    O75298
    UniProtKB/TrEMBL
    A8K7F2, Q6GMT0
    Related
    ENSP00000245923.3, OTTHUMP00000268446, ENST00000245923.8, OTTHUMT00000459574
    Conserved Domains (1) summary
    pfam02453
    Location:345509
    Reticulon; Reticulon
  2. NM_206900.2NP_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)
    AI971392, AK291967, BC073874, BK001688
    Consensus CDS
    CCDS12666.1
    UniProtKB/Swiss-Prot
    O75298
    UniProtKB/TrEMBL
    A8K7F2, Q6GMT0
    Related
    ENSP00000345127.3, OTTHUMP00000268450, ENST00000344680.8, OTTHUMT00000459578
    Conserved Domains (1) summary
    pfam02453
    Location:272436
    Reticulon; Reticulon
  3. NM_206901.2NP_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)
    AF004224, AI971392, AK291967, DA898294
    Consensus CDS
    CCDS46114.1
    UniProtKB/Swiss-Prot
    O75298
    UniProtKB/TrEMBL
    A8K7F2
    Related
    ENSP00000398178.1, OTTHUMP00000268447, ENST00000430715.6, OTTHUMT00000459575
    Conserved Domains (1) summary
    pfam02453
    Location:5169
    Reticulon; Reticulon

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    45485288..45497055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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