Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Reticulon-2

Gene

RTN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Reticulon-2
Alternative name(s):
Neuroendocrine-specific protein-like 1
Short name:
NSP-like protein 1
Neuroendocrine-specific protein-like I
Short name:
NSP-like protein I
Short name:
NSPLI
Gene namesi
Name:RTN2
Synonyms:NSPL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:10468. RTN2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei368 – 38821HelicalSequence analysisAdd
BLAST
Transmembranei463 – 48321HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • terminal cisterna Source: Ensembl
  • T-tubule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 12, autosomal dominant (SPG12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:604805
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti367 – 3671S → F in SPG12. 1 Publication
Corresponds to variant rs140494585 [ dbSNP | Ensembl ].
VAR_067562

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MalaCardsiRTN2.
MIMi604805. phenotype.
Orphaneti100993. Autosomal dominant spastic paraplegia type 12.
PharmGKBiPA34881.

Polymorphism and mutation databases

BioMutaiRTN2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 545545Reticulon-2PRO_0000030351Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei44 – 441PhosphoserineBy similarity
Modified residuei227 – 2271PhosphoserineBy similarity
Modified residuei229 – 2291PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75298.
MaxQBiO75298.
PaxDbiO75298.
PeptideAtlasiO75298.
PRIDEiO75298.

PTM databases

iPTMnetiO75298.
PhosphoSiteiO75298.

Expressioni

Tissue specificityi

Isoform RTN2-C is highly expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000125744.
CleanExiHS_RTN2.
ExpressionAtlasiO75298. baseline and differential.
GenevisibleiO75298. HS.

Organism-specific databases

HPAiHPA034941.
HPA034948.

Interactioni

Subunit structurei

Interacts with isoform 1 but not isoform 3 of SPAST (PubMed:22232211). Isoform RTN2-B interacts with TMEM33 (PubMed:25612671).2 Publications

Protein-protein interaction databases

BioGridi112166. 18 interactions.
IntActiO75298. 3 interactions.
STRINGi9606.ENSP00000245923.

Structurei

3D structure databases

ProteinModelPortaliO75298.
SMRiO75298. Positions 394-460.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini345 – 545201ReticulonPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 reticulon domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1792. Eukaryota.
ENOG410XPKH. LUCA.
GeneTreeiENSGT00390000009934.
HOGENOMiHOG000119393.
HOVERGENiHBG099866.
InParanoidiO75298.
OMAiQCLDSTD.
OrthoDBiEOG091G0TIO.
PhylomeDBiO75298.
TreeFamiTF105431.

Family and domain databases

InterProiIPR003388. Reticulon.
[Graphical view]
PfamiPF02453. Reticulon. 1 hit.
[Graphical view]
PROSITEiPS50845. RETICULON. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

Isoform RTN2-A (identifier: O75298-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGQVLPVFAH CKEAPSTASS TPDSTEGGND DSDFRELHTA REFSEEDEEE
60 70 80 90 100
TTSQDWGTPR ELTFSYIAFD GVVGSGGRRD STARRPRPQG RSVSEPRDQH
110 120 130 140 150
PQPSLGDSLE SIPSLSQSPE PGRRGDPDTA PPSERPLEDL RLRLDHLGWV
160 170 180 190 200
ARGTGSGEDS STSSSTPLED EEPQEPNRLE TGEAGEELDL RLRLAQPSSP
210 220 230 240 250
EVLTPQLSPG SGTPQAGTPS PSRSRDSNSG PEEPLLEEEE KQWGPLEREP
260 270 280 290 300
VRGQCLDSTD QLEFTVEPRL LGTAMEWLKT SLLLAVYKTV PILELSPPLW
310 320 330 340 350
TAIGWVQRGP TPPTPVLRVL LKWAKSPRSS GVPSLSLGAD MGSKVADLLY
360 370 380 390 400
WKDTRTSGVV FTGLMVSLLC LLHFSIVSVA AHLALLLLCG TISLRVYRKV
410 420 430 440 450
LQAVHRGDGA NPFQAYLDVD LTLTREQTER LSHQITSRVV SAATQLRHFF
460 470 480 490 500
LVEDLVDSLK LALLFYILTF VGAIFNGLTL LILGVIGLFT IPLLYRQHQA
510 520 530 540
QIDQYVGLVT NQLSHIKAKI RAKIPGTGAL ASAAAAVSGS KAKAE
Length:545
Mass (Da):59,264
Last modified:November 1, 1998 - v1
Checksum:i971FD2F909E1E9E6
GO
Isoform RTN2-B (identifier: O75298-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-344: Missing.

Show »
Length:472
Mass (Da):51,429
Checksum:iE6D581279A23B263
GO
Isoform RTN2-C (identifier: O75298-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-340: Missing.

Note: Produced by alternative initiation at Met-341 of isoform RTN2-A.
Show »
Length:205
Mass (Da):22,316
Checksum:iFF788CF4174074FF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti367 – 3671S → F in SPG12. 1 Publication
Corresponds to variant rs140494585 [ dbSNP | Ensembl ].
VAR_067562
Natural varianti425 – 4251R → Q.
Corresponds to variant rs35461805 [ dbSNP | Ensembl ].
VAR_053632

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 340340Missing in isoform RTN2-C. CuratedVSP_018870Add
BLAST
Alternative sequencei272 – 34473Missing in isoform RTN2-B. 1 PublicationVSP_005649Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF004222 mRNA. Translation: AAC32542.1.
AF004223 mRNA. Translation: AAC32543.1.
AF004224 mRNA. Translation: AAC32544.1.
AF038540 mRNA. Translation: AAC14910.1.
BK001686 mRNA. Translation: DAA01944.1.
BK001687 mRNA. Translation: DAA01932.1.
BK001688 mRNA. Translation: DAA01933.1.
CCDSiCCDS12665.1. [O75298-1]
CCDS12666.1. [O75298-2]
CCDS46114.1. [O75298-3]
RefSeqiNP_005610.1. NM_005619.4. [O75298-1]
NP_996783.1. NM_206900.2. [O75298-2]
NP_996784.1. NM_206901.2. [O75298-3]
UniGeneiHs.47517.

Genome annotation databases

EnsembliENST00000245923; ENSP00000245923; ENSG00000125744. [O75298-1]
ENST00000344680; ENSP00000345127; ENSG00000125744. [O75298-2]
ENST00000430715; ENSP00000398178; ENSG00000125744. [O75298-3]
GeneIDi6253.
KEGGihsa:6253.
UCSCiuc002pcb.5. human. [O75298-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF004222 mRNA. Translation: AAC32542.1.
AF004223 mRNA. Translation: AAC32543.1.
AF004224 mRNA. Translation: AAC32544.1.
AF038540 mRNA. Translation: AAC14910.1.
BK001686 mRNA. Translation: DAA01944.1.
BK001687 mRNA. Translation: DAA01932.1.
BK001688 mRNA. Translation: DAA01933.1.
CCDSiCCDS12665.1. [O75298-1]
CCDS12666.1. [O75298-2]
CCDS46114.1. [O75298-3]
RefSeqiNP_005610.1. NM_005619.4. [O75298-1]
NP_996783.1. NM_206900.2. [O75298-2]
NP_996784.1. NM_206901.2. [O75298-3]
UniGeneiHs.47517.

3D structure databases

ProteinModelPortaliO75298.
SMRiO75298. Positions 394-460.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112166. 18 interactions.
IntActiO75298. 3 interactions.
STRINGi9606.ENSP00000245923.

PTM databases

iPTMnetiO75298.
PhosphoSiteiO75298.

Polymorphism and mutation databases

BioMutaiRTN2.

Proteomic databases

EPDiO75298.
MaxQBiO75298.
PaxDbiO75298.
PeptideAtlasiO75298.
PRIDEiO75298.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245923; ENSP00000245923; ENSG00000125744. [O75298-1]
ENST00000344680; ENSP00000345127; ENSG00000125744. [O75298-2]
ENST00000430715; ENSP00000398178; ENSG00000125744. [O75298-3]
GeneIDi6253.
KEGGihsa:6253.
UCSCiuc002pcb.5. human. [O75298-1]

Organism-specific databases

CTDi6253.
GeneCardsiRTN2.
HGNCiHGNC:10468. RTN2.
HPAiHPA034941.
HPA034948.
MalaCardsiRTN2.
MIMi603183. gene.
604805. phenotype.
neXtProtiNX_O75298.
Orphaneti100993. Autosomal dominant spastic paraplegia type 12.
PharmGKBiPA34881.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1792. Eukaryota.
ENOG410XPKH. LUCA.
GeneTreeiENSGT00390000009934.
HOGENOMiHOG000119393.
HOVERGENiHBG099866.
InParanoidiO75298.
OMAiQCLDSTD.
OrthoDBiEOG091G0TIO.
PhylomeDBiO75298.
TreeFamiTF105431.

Miscellaneous databases

ChiTaRSiRTN2. human.
GeneWikiiRTN2.
GenomeRNAii6253.
PROiO75298.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125744.
CleanExiHS_RTN2.
ExpressionAtlasiO75298. baseline and differential.
GenevisibleiO75298. HS.

Family and domain databases

InterProiIPR003388. Reticulon.
[Graphical view]
PfamiPF02453. Reticulon. 1 hit.
[Graphical view]
PROSITEiPS50845. RETICULON. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRTN2_HUMAN
AccessioniPrimary (citable) accession number: O75298
Secondary accession number(s): O60509
, Q7RTM6, Q7RTN1, Q7RTN2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1998
Last modified: September 7, 2016
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.