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ERLIN2 Gene

protein-coding   GIFtS: 53
GCID: GC08P037594

ER Lipid Raft Associated 2

(Previous names: chromosome 8 open reading frame 2, SPFH domain family, member...)
(Previous symbols: C8orf2, SPFH2, Erlin-2)
  See ERLIN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ER Lipid Raft Associated 21 2     Stomatin-Prohibitin-Flotillin-HflC/K Domain-Containing Protein 22 3
C8orf21 2 3 5     SPG182 5
SPFH21 2 3 5     Chromosome 8 Open Reading Frame 21
Erlin-21 2     NET322
SPFH Domain Family, Member 21 2     erlin-22
Endoplasmic Reticulum Lipid Raft-Associated Protein 22 3     SPFH Domain-Containing Protein 23

External Ids:    HGNC: 13561   Entrez Gene: 111602   Ensembl: ENSG000001474757   OMIM: 6116055   UniProtKB: O949053   

Export aliases for ERLIN2 gene to outside databases

Previous GC identifers: GC08P037715 GC08P036128


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERLIN2 Gene:
This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded
protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol
1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations
in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding
multiple isoforms have been observed for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for ERLIN2 Gene:
ERLIN2 (ER lipid raft associated 2) is a protein-coding gene. Diseases associated with ERLIN2 include recessive intellectual disability - motor dysfunction - multiple joint contractures, and spastic paraplegia 18, autosomal recessive. An important paralog of this gene is ERLIN1.

UniProtKB/Swiss-Prot: ERLN2_HUMAN, O94905
Function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation
(ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway

Gene Wiki entry for ERLIN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ERLIN2 gene promoter:
         AhR   Pbx1a   COMP1   STAT5A   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERLIN2 promoter sequence
   Search Chromatin IP Primers for ERLIN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERLIN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.23   HGNC cytogenetic band: 8p11.2

ERLIN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERLIN2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P037594:  view genomic region     (about GC identifiers)

Start:
37,594,097 bp from pter      End:
37,616,619 bp from pter
Size:
22,523 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ERLN2_HUMAN, O94905 (See protein sequence)
Recommended Name: Erlin-2  
Size: 339 amino acids; 37840 Da
Subunit: Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity).
Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170
Sequence caution: Sequence=AAH50611.1; Type=Erroneous initiation;
Secondary accessions: A0JLQ1 A8K5S9 B4DM38 D3DSW0 Q6NW21 Q86VS6 Q86W49
Alternative splicing: 3 isoforms:  O94905-1   O94905-2   O94905-3   

Explore the universe of human proteins at neXtProt for ERLIN2: NX_O94905

Explore proteomics data for ERLIN2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn106, Thr334, Thr336
  • Modification sites at PhosphoSitePlus

  • See ERLIN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001003790.1  NP_001003791.1  NP_009106.1  

    ENSEMBL proteins: 
     ENSP00000380405   ENSP00000429229   ENSP00000429903   ENSP00000276461   ENSP00000427847  
     ENSP00000335220   ENSP00000429621   ENSP00000473292   ENSP00000428112  

    ERLIN2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ERLIN2

     
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    Search eBioscience for ELISAs for ERLIN2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001107 Band_7

    Graphical View of Domain Structure for InterPro Entry O94905

    ProtoNet protein and cluster: O94905

    UniProtKB/Swiss-Prot: ERLN2_HUMAN, O94905
    Similarity: Belongs to the band 7/mec-2 family


    Find genes that share domains with ERLIN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERLN2_HUMAN, O94905
    Function: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation
    (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19240031
         
    Find genes that share ontologies with ERLIN2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ERLIN2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERLIN2
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    miRNA
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    miRTarBase miRNAs that target ERLIN2:
    hsa-mir-93-5p (MIRT048896), hsa-mir-326 (MIRT043639), hsa-mir-16-5p (MIRT031903), hsa-mir-34a-5p (MIRT025281), hsa-mir-192-5p (MIRT004154), hsa-mir-30c-5p (MIRT047981)

    Block miRNA regulation of human, mouse, rat ERLIN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERLIN2 (see all 67):
    hsa-miR-607 hsa-miR-1321 hsa-miR-4272 hsa-miR-15a hsa-miR-376a* hsa-miR-3148 hsa-miR-761 hsa-miR-3612
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    GenScript: all cDNA clones in your preferred vector (see all 3): ERLIN2 (NM_007175)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERLIN2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERLIN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERLN2_HUMAN, O94905: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with
    lipid raft-like domains of the endoplasmic reticulum membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    cytosol3
    extracellular2
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IDA16835267
    GO:0005886plasma membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ERLIN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERLIN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with ERLIN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ERLIN2
        Cytoskeletal Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ERLIN2
    Interactions:

        Search GeneGlobe Interaction Network for ERLIN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ERLIN2 (O949052, 3 ENSP000002764614) via UniProtKB, MINT, STRING, and/or I2D (see all 263)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ITPR1Q146433, ENSP000004059344I2D: score=2 STRING: ENSP00000405934
    HMGCRP040353, ENSP000002879364I2D: score=1 STRING: ENSP00000287936
    INSIG1O155033, ENSP000003447414I2D: score=1 STRING: ENSP00000344741
    RNF170Q96K193, ENSP000002401594I2D: score=1 STRING: ENSP00000240159
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0030433ER-associated ubiquitin-dependent protein catabolic process IDA19240031

    Find genes that share ontologies with ERLIN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ERLIN2 (ERLN2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ERLIN2 gene (3 alternative transcripts): 
    NM_001003790.3  NM_001003791.2  NM_007175.6  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397228 ENST00000519872 ENST00000518526 ENST00000523887(uc003xkc.4 uc003xkd.3)
    ENST00000276461(uc003xke.4) ENST00000518586(uc003xkf.4 uc003xkg.3)
    ENST00000335171 ENST00000521644 ENST00000523107 ENST00000519638 ENST00000521993

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ERLIN2 (see all 67):
    hsa-miR-607 hsa-miR-1321 hsa-miR-4272 hsa-miR-15a hsa-miR-376a* hsa-miR-3148 hsa-miR-761 hsa-miR-3612
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 3): ERLIN2 (NM_007175)
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      QuantiTect SYBR Green Assays in human, mouse, rat ERLIN2
      QuantiFast Probe-based Assays in human, mouse, rat ERLIN2

    Selected AceView cDNA sequences (see all 178):

    AI263157 AW611944 AI872481 BP353696 AW339221 BU627560 BM851573 T92524 
    CD513069 BC005950 AA700216 BC050611 BF056308 BF939538 BQ889888 BC048308 
    CR621478 AI954732 AL538235 AI240641 BM555441 AI783496 BE671849 NM_001003791 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ERLIN2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                    -                                                                     


    ECgene alternative splicing isoforms for ERLIN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERLIN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATTTATG
    ERLIN2 Expression
    About this image


    ERLIN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ERLIN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERLIN2 Protein Expression

    UniProtKB/Swiss-Prot: ERLN2_HUMAN, O94905
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERLIN2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Erlin21 , 5 ER lipid raft associated 21, 5 89.28(n)1
    97.64(a)1
      8 (15.91 cM)5
    2443731  NM_153592.21  NP_705820.11 
     270237995 
    chicken
    (Gallus gallus)
    Aves ERLIN21 ER lipid raft associated 2 79.15(n)
    91.02(a)
      426769  XM_424380.3  XP_424380.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERLIN26
    ER lipid raft associated 2
    78(a)
    1 ↔ 1
    GL343406.1(308556-324444)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.313802 Xenopus laevis transcribed sequence with moderate similarity more 80.26(n)    CD361937.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD283098.12   -- 79.01(n)    CD283098.1 
    worm
    (Caenorhabditis elegans)
    Secernentea erl-11 erl-1 60.77(n)
    67.01(a)
      178178  NM_069938.4  NP_502339.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G035101 AT2G03510 59.93(n)
    55.63(a)
      814880  NM_126401.4  NP_027545.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g04214001 Os03g0421400 62.15(n)
    62.29(a)
      4333131  NM_001056918.1  NP_001050383.1 


    ENSEMBL Gene Tree for ERLIN2 (if available)
    TreeFam Gene Tree for ERLIN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERLIN2 gene
    ERLIN12  
    2 SIMAP similar genes for ERLIN2 using alignment to 3 protein entries:     ERLN2_HUMAN (see all proteins):
    ERLIN1    SPFH1

    Find genes that share paralogs with ERLIN2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ERLIN2 (see all 449)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs712166281,2
    C--37600021(-) GTCCC-/GTGCAA 3 -- int11Minor allele frequency- G:0.00NA 2
    rs1866534121,2
    --37819455(+) TGTACC/TAGCAC 2 -- us2k10--------
    rs1911639171,2
    --37819490(+) TTAGGC/TACGTC 2 -- us2k10--------
    rs1833041741,2
    --37819492(+) AGGCAC/TGTCCA 2 -- us2k10--------
    rs1457026481,2
    --37819551(+) CAAAAC/TTTCTA 3 -- us2k10--------
    rs125451901,2
    C,H--37819557(+) TTCTAC/GCCACA 3 -- us2k114Minor allele frequency- G:0.00NS EA NA WA CSA 436
    rs1428649201,2
    --37819635(+) ATACAA/TATTTG 3 -- us2k10--------
    rs1888521431,2
    --37819720(+) TGATGC/TTGCAG 3 -- us2k10--------
    rs2015649711,2
    --37819726(+) TGCAG-/GCTA  
            
    GCCCC
    3 -- us2k10--------
    rs772862701,2
    C--37819727(+) GCAGGA/CTAGCC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ERLIN2 (37594097 - 37616619 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ERLIN2: --
    Human Gene Mutation Database (HGMD): ERLIN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERLIN2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERLIN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611605   
    OMIM disorders: 611225  
    UniProtKB/Swiss-Prot: ERLN2_HUMAN, O94905
  • Spastic paraplegia 18, autosomal recessive (SPG18) [MIM:611225]: A 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for ERLIN2:    
    About MalaCards
    recessive intellectual disability - motor dysfunction - multiple joint contractures    spastic paraplegia 18, autosomal recessive    juvenile primary lateral sclerosis    intellectual disability

    1 disease from the University of Copenhagen DISEASES database for ERLIN2:
    Paraplegia

    Find genes that share disorders with ERLIN2           About GenesLikeMe


    Export disorders for ERLIN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERLIN2 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with ERLIN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER. (PubMed id 16835267)1, 2, 3 Browman D.T.... Robbins S.M. (J. Cell Sci. 2006)
    2. Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9. (PubMed id 10449903)1, 2, 3 Ikegawa S.... Nakamura Y. (Cytogenet. Cell Genet. 1999)
    3. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. (PubMed id 21330303)1, 2 Yildirim Y.... Tolun A. (Hum. Mol. Genet. 2011)
    4. An endoplasmic reticulum (ER) membrane complex composed of SPFH1 and SPFH2 mediates the ER-associated degradation of inositol 1,4,5- trisphosphate receptors. (PubMed id 19240031)1, 2 Pearce M.M.P.... Wojcikiewicz R.J.H. (J. Biol. Chem. 2009)
    5. SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells. (PubMed id 17502376)1, 2 Pearce M.M.... Wojcikiewicz R.J.H. (J. Biol. Chem. 2007)
    6. A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes. (PubMed id 15897872)1, 3 Garcia M.J....Caldas C. (Oncogene 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11160 HGNC: 1356 AceView: C8orf2 Ensembl:ENSG00000147475 euGenes: HUgn11160
    ECgene: ERLIN2 H-InvDB: ERLIN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ERLIN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ERLIN2 gene:
    Search GeneIP for patents involving ERLIN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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