Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 159 (16 Oct 2019)
Sequence version 1 (01 May 1999)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Erlin-2

Gene

ERLIN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-8853336 Signaling by plasma membrane FGFR1 fusions

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.P.1.1.1 the polyoma virus sv40 er penitration channel (vpec) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Erlin-2
Alternative name(s):
Endoplasmic reticulum lipid raft-associated protein 2
Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2
Short name:
SPFH domain-containing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ERLIN2
Synonyms:C8orf2, SPFH2
ORF Names:UNQ2441/PRO5003/PRO9924
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1356 ERLIN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611605 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94905

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 3CytoplasmicSequence analysis3
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Topological domaini25 – 339LumenalSequence analysisAdd BLAST315

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic paraplegia 18, autosomal recessive (SPG18)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. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi106N → Q: Loss of glycosylation. 1 Publication1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
11160

MalaCards human disease database

More...
MalaCardsi
ERLIN2
MIMi611225 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147475

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
209951 Autosomal recessive spastic paraplegia type 18
247604 Juvenile primary lateral sclerosis
280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25961

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O94905

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ERLIN2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000027871 – 339Erlin-2Add BLAST339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi106N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei267N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-361
CPTAC-362

Encyclopedia of Proteome Dynamics

More...
EPDi
O94905

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O94905

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O94905

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O94905

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O94905

PeptideAtlas

More...
PeptideAtlasi
O94905

PRoteomics IDEntifications database

More...
PRIDEi
O94905

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50538 [O94905-1]
50539 [O94905-2]
50540 [O94905-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1222

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O94905

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O94905

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O94905

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147475 Expressed in 219 organ(s), highest expression level in choroid plexus epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O94905 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O94905 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB014894
HPA002025

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170 (PubMed:19240031, PubMed:21610068).

Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity).

Interacts with SCAP, INSIG1, SREBF1 and SREBF2 under cholesterol sufficiency conditions; indicative for an association with the SCAP-SREBP-INSIG complex (PubMed:24217618). Probably part of an AMFR/gp78 and INSIG1-containing ubiquitin ligase complex involved in ERAD of HMGCR.

Interacts with TMUB1; TMUB1 bridges the association with AMFR.

Interacts with SYVN1 and RNF139 (PubMed:21343306).

Interacts with TMEM259 (By similarity).

By similarity1 Publication4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116331, 128 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O94905

Protein interaction database and analysis system

More...
IntActi
O94905, 89 interactors

Molecular INTeraction database

More...
MINTi
O94905

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000276461

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O94905

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni177 – 309Interaction with ERLIN11 PublicationAdd BLAST133

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2962 Eukaryota
ENOG410XQSH LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014666

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O94905

KEGG Orthology (KO)

More...
KOi
K23341

Identification of Orthologs from Complete Genome Data

More...
OMAi
VVNFLIQ

Database of Orthologous Groups

More...
OrthoDBi
930534at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O94905

TreeFam database of animal gene trees

More...
TreeFami
TF313059

Family and domain databases

Conserved Domains Database

More...
CDDi
cd03406 SPFH_like_u3, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001107 Band_7
IPR033294 Erlin1/2

The PANTHER Classification System

More...
PANTHERi
PTHR15351 PTHR15351, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01145 Band_7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00244 PHB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O94905-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAQLGAVVAV ASSFFCASLF SAVHKIEEGH IGVYYRGGAL LTSTSGPGFH
60 70 80 90 100
LMLPFITSYK SVQTTLQTDE VKNVPCGTSG GVMIYFDRIE VVNFLVPNAV
110 120 130 140 150
YDIVKNYTAD YDKALIFNKI HHELNQFCSV HTLQEVYIEL FDQIDENLKL
160 170 180 190 200
ALQQDLTSMA PGLVIQAVRV TKPNIPEAIR RNYELMESEK TKLLIAAQKQ
210 220 230 240 250
KVVEKEAETE RKKALIEAEK VAQVAEITYG QKVMEKETEK KISEIEDAAF
260 270 280 290 300
LAREKAKADA ECYTAMKIAE ANKLKLTPEY LQLMKYKAIA SNSKIYFGKD
310 320 330
IPNMFMDSAG SVSKQFEGLA DKLSFGLEDE PLETATKEN
Length:339
Mass (Da):37,840
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3CF322548FD58DB0
GO
Isoform 2 (identifier: O94905-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     142-152: DQIDENLKLAL → GLENDFSQESS
     153-339: Missing.

Show »
Length:152
Mass (Da):16,814
Checksum:i13EE2B91F5293642
GO
Isoform 3 (identifier: O94905-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     142-206: DQIDENLKLA...AQKQKVVEKE → GKKVSPEHAV...RMLIAMQQDP
     207-339: Missing.

Show »
Length:206
Mass (Da):22,939
Checksum:iC585C9F7DB01A671
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RHW4E5RHW4_HUMAN
Erlin-2
ERLIN2
338Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJ09E5RJ09_HUMAN
Erlin-2
ERLIN2
197Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH50611 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti61S → P in AAH05950 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05914071V → A. Corresponds to variant dbSNP:rs2032066Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013940142 – 206DQIDE…VVEKE → GKKVSPEHAVLKQGSWNPAS LHCLKPGCLQGVMVTYGQEM LKNLVLRSWSQRSSWRMLIA MQQDP in isoform 3. 2 PublicationsAdd BLAST65
Alternative sequenceiVSP_008713142 – 152DQIDENLKLAL → GLENDFSQESS in isoform 2. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_008714153 – 339Missing in isoform 2. 2 PublicationsAdd BLAST187
Alternative sequenceiVSP_013941207 – 339Missing in isoform 3. 2 PublicationsAdd BLAST133

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB018790 Genomic DNA Translation: BAA36845.1
AL442077 mRNA Translation: CAC09443.1
AY358108 mRNA Translation: AAQ88475.1
AY358851 mRNA Translation: AAQ89210.1
AK291394 mRNA Translation: BAF84083.1
AK297279 mRNA Translation: BAG59750.1
CH471080 Genomic DNA Translation: EAW63365.1
CH471080 Genomic DNA Translation: EAW63366.1
BC005950 mRNA Translation: AAH05950.1 Different termination.
BC048308 mRNA Translation: AAH48308.1
BC050611 mRNA Translation: AAH50611.1 Different initiation.
BC067765 mRNA Translation: AAH67765.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34879.1 [O94905-2]
CCDS6095.1 [O94905-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001003790.1, NM_001003790.3 [O94905-2]
NP_001003791.1, NM_001003791.2 [O94905-2]
NP_009106.1, NM_007175.6 [O94905-1]
XP_005273449.1, XM_005273392.2
XP_016868489.1, XM_017013000.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000335171; ENSP00000335220; ENSG00000147475 [O94905-2]
ENST00000518586; ENSP00000427847; ENSG00000147475 [O94905-3]
ENST00000519638; ENSP00000428112; ENSG00000147475 [O94905-1]
ENST00000523107; ENSP00000473292; ENSG00000147475 [O94905-3]
ENST00000523887; ENSP00000429903; ENSG00000147475 [O94905-3]
ENST00000648919; ENSP00000497100; ENSG00000147475 [O94905-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11160

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11160

UCSC genome browser

More...
UCSCi
uc003xkc.5 human [O94905-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB018790 Genomic DNA Translation: BAA36845.1
AL442077 mRNA Translation: CAC09443.1
AY358108 mRNA Translation: AAQ88475.1
AY358851 mRNA Translation: AAQ89210.1
AK291394 mRNA Translation: BAF84083.1
AK297279 mRNA Translation: BAG59750.1
CH471080 Genomic DNA Translation: EAW63365.1
CH471080 Genomic DNA Translation: EAW63366.1
BC005950 mRNA Translation: AAH05950.1 Different termination.
BC048308 mRNA Translation: AAH48308.1
BC050611 mRNA Translation: AAH50611.1 Different initiation.
BC067765 mRNA Translation: AAH67765.1
CCDSiCCDS34879.1 [O94905-2]
CCDS6095.1 [O94905-1]
RefSeqiNP_001003790.1, NM_001003790.3 [O94905-2]
NP_001003791.1, NM_001003791.2 [O94905-2]
NP_009106.1, NM_007175.6 [O94905-1]
XP_005273449.1, XM_005273392.2
XP_016868489.1, XM_017013000.1

3D structure databases

SMRiO94905
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116331, 128 interactors
CORUMiO94905
IntActiO94905, 89 interactors
MINTiO94905
STRINGi9606.ENSP00000276461

Protein family/group databases

TCDBi1.P.1.1.1 the polyoma virus sv40 er penitration channel (vpec) family

PTM databases

GlyConnecti1222
iPTMnetiO94905
PhosphoSitePlusiO94905
SwissPalmiO94905

Polymorphism and mutation databases

BioMutaiERLIN2

Proteomic databases

CPTACiCPTAC-361
CPTAC-362
EPDiO94905
jPOSTiO94905
MassIVEiO94905
MaxQBiO94905
PaxDbiO94905
PeptideAtlasiO94905
PRIDEiO94905
ProteomicsDBi50538 [O94905-1]
50539 [O94905-2]
50540 [O94905-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11160

Genome annotation databases

EnsembliENST00000335171; ENSP00000335220; ENSG00000147475 [O94905-2]
ENST00000518586; ENSP00000427847; ENSG00000147475 [O94905-3]
ENST00000519638; ENSP00000428112; ENSG00000147475 [O94905-1]
ENST00000523107; ENSP00000473292; ENSG00000147475 [O94905-3]
ENST00000523887; ENSP00000429903; ENSG00000147475 [O94905-3]
ENST00000648919; ENSP00000497100; ENSG00000147475 [O94905-2]
GeneIDi11160
KEGGihsa:11160
UCSCiuc003xkc.5 human [O94905-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11160
DisGeNETi11160

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ERLIN2
HGNCiHGNC:1356 ERLIN2
HPAiCAB014894
HPA002025
MalaCardsiERLIN2
MIMi611225 phenotype
611605 gene
neXtProtiNX_O94905
OpenTargetsiENSG00000147475
Orphaneti209951 Autosomal recessive spastic paraplegia type 18
247604 Juvenile primary lateral sclerosis
280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
PharmGKBiPA25961

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2962 Eukaryota
ENOG410XQSH LUCA
GeneTreeiENSGT00390000014666
InParanoidiO94905
KOiK23341
OMAiVVNFLIQ
OrthoDBi930534at2759
PhylomeDBiO94905
TreeFamiTF313059

Enzyme and pathway databases

ReactomeiR-HSA-382556 ABC-family proteins mediated transport
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-8853336 Signaling by plasma membrane FGFR1 fusions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ERLIN2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ERLIN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
11160
PharosiO94905

Protein Ontology

More...
PROi
PR:O94905

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147475 Expressed in 219 organ(s), highest expression level in choroid plexus epithelium
ExpressionAtlasiO94905 baseline and differential
GenevisibleiO94905 HS

Family and domain databases

CDDicd03406 SPFH_like_u3, 1 hit
InterProiView protein in InterPro
IPR001107 Band_7
IPR033294 Erlin1/2
PANTHERiPTHR15351 PTHR15351, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
SMARTiView protein in SMART
SM00244 PHB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiERLN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O94905
Secondary accession number(s): A0JLQ1
, A8K5S9, B4DM38, D3DSW0, Q6NW21, Q86VS6, Q86W49
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: May 1, 1999
Last modified: October 16, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again