RTN2 reticulon 2 [Homo sapiens (human)] - Gene

Summary

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; HMNR11
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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19q13.32

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45485294..45497047, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48312543..48326854, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45988552..46000305, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH45916 (e-PCR)
- UniSTS:87305

Rtn2 (e-PCR), detects polymorphism
- UniSTS:256832

Rtn2 (e-PCR), detects polymorphism
- UniSTS:507202

D19S220 (e-PCR), detects polymorphism
- UniSTS:20334

D19S416 (e-PCR), detects polymorphism
- UniSTS:33682

RH76054 (e-PCR)
- UniSTS:90008

SHGC-2303 (e-PCR)
- UniSTS:173257

D19S219 (e-PCR), detects polymorphism
- UniSTS:57818

GDB:190035 (e-PCR)
- UniSTS:155611

D19S897 (e-PCR), detects polymorphism
- UniSTS:14816

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 brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum tubular network formation	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of D-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
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor 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

Go to the top of the page Help

Preferred Names: reticulon-2

Names: NSP-like protein 1; NSP-like protein I; neuroendocrine-specific protein-like I

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_032157.1 RefSeqGene

Range

5007..16760

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45485294..45497047 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

48312543..48326854 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321705.1 → XP_054177680.1 reticulon-2 isoform X2
XM_054321704.1 → XP_054177679.1 reticulon-2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_206902.1: Suppressed sequence

Description

NM_206902.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.