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Protein

Reticulon-2

Gene

RTN2

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

Functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000125744.11
HGNCiHGNC:10468 RTN2
MIMi603183 gene
neXtProtiNX_O75298

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei368 – 388HelicalSequence analysisAdd BLAST21
Transmembranei463 – 483HelicalSequence analysisAdd BLAST21

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_067562367S → F in SPG12. 1 PublicationCorresponds to variant dbSNP:rs140494585EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi6253
MalaCardsiRTN2
MIMi604805 phenotype
OpenTargetsiENSG00000125744
Orphaneti100993 Autosomal dominant spastic paraplegia type 12
PharmGKBiPA34881

Polymorphism and mutation databases

BioMutaiRTN2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000303511 – 545Reticulon-2Add BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineBy similarity1
Modified residuei227PhosphoserineBy similarity1
Modified residuei229PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75298
MaxQBiO75298
PaxDbiO75298
PeptideAtlasiO75298
PRIDEiO75298
ProteomicsDBi49880
49881 [O75298-2]
49882 [O75298-3]

PTM databases

iPTMnetiO75298
PhosphoSitePlusiO75298

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000125744 Expressed in 214 organ(s), highest expression level in skeletal muscle tissue
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, 26 interactors
CORUMiO75298
IntActiO75298, 3 interactors
STRINGi9606.ENSP00000245923

Structurei

3D structure databases

ProteinModelPortaliO75298
SMRiO75298
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini345 – 545ReticulonPROSITE-ProRule annotationAdd BLAST201

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1792 Eukaryota
ENOG410XPKH LUCA
GeneTreeiENSGT00390000009934
HOGENOMiHOG000119393
HOVERGENiHBG099866
InParanoidiO75298
KOiK20722
OMAiRDSNSWP
OrthoDBiEOG091G0TIO
PhylomeDBiO75298
TreeFamiTF105431

Family and domain databases

InterProiView protein in InterPro
IPR003388 Reticulon
PfamiView protein in Pfam
PF02453 Reticulon, 1 hit
PROSITEiView protein in PROSITE
PS50845 RETICULON, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q7RTN0Q7RTN0_HUMAN
Reticulon
RTN2 hCG_1996624
461Annotation score:
K7EMR7K7EMR7_HUMAN
Reticulon
RTN2 hCG_1996624
271Annotation score:
Q96CG9Q96CG9_HUMAN
Reticulon 2, isoform CRA_f
RTN2 hCG_1996624
276Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067562367S → F in SPG12. 1 PublicationCorresponds to variant dbSNP:rs140494585EnsemblClinVar.1
Natural variantiVAR_053632425R → Q. Corresponds to variant dbSNP:rs35461805EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0188701 – 340Missing in isoform RTN2-C. CuratedAdd BLAST340
Alternative sequenceiVSP_005649272 – 344Missing in isoform RTN2-B. 1 PublicationAdd BLAST73

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112166, 26 interactors
CORUMiO75298
IntActiO75298, 3 interactors
STRINGi9606.ENSP00000245923

PTM databases

iPTMnetiO75298
PhosphoSitePlusiO75298

Polymorphism and mutation databases

BioMutaiRTN2

Proteomic databases

EPDiO75298
MaxQBiO75298
PaxDbiO75298
PeptideAtlasiO75298
PRIDEiO75298
ProteomicsDBi49880
49881 [O75298-2]
49882 [O75298-3]

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
DisGeNETi6253
EuPathDBiHostDB:ENSG00000125744.11
GeneCardsiRTN2
HGNCiHGNC:10468 RTN2
HPAiHPA034941
HPA034948
MalaCardsiRTN2
MIMi603183 gene
604805 phenotype
neXtProtiNX_O75298
OpenTargetsiENSG00000125744
Orphaneti100993 Autosomal dominant spastic paraplegia type 12
PharmGKBiPA34881
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1792 Eukaryota
ENOG410XPKH LUCA
GeneTreeiENSGT00390000009934
HOGENOMiHOG000119393
HOVERGENiHBG099866
InParanoidiO75298
KOiK20722
OMAiRDSNSWP
OrthoDBiEOG091G0TIO
PhylomeDBiO75298
TreeFamiTF105431

Miscellaneous databases

ChiTaRSiRTN2 human
GeneWikiiRTN2
GenomeRNAii6253
PROiPR:O75298
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125744 Expressed in 214 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_RTN2
ExpressionAtlasiO75298 baseline and differential
GenevisibleiO75298 HS

Family and domain databases

InterProiView protein in InterPro
IPR003388 Reticulon
PfamiView protein in Pfam
PF02453 Reticulon, 1 hit
PROSITEiView protein in PROSITE
PS50845 RETICULON, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRTN2_HUMAN
AccessioniPrimary (citable) accession number: O75298
Secondary accession number(s): O60509
, Q7RTM6, Q7RTN1, Q7RTN2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 137 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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