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    ERLIN2 ER lipid raft associated 2 [ Homo sapiens (human) ]

    Gene ID: 11160, updated on 3-Jun-2019

    Summary

    Official Symbol
    ERLIN2provided by HGNC
    Official Full Name
    ER lipid raft associated 2provided by HGNC
    Primary source
    HGNC:HGNC:1356
    See related
    Ensembl:ENSG00000147475 MIM:611605
    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
    NET32; SPFH2; SPG18; C8orf2; Erlin-2
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 20.3), kidney (RPKM 15.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See ERLIN2 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (37736579..37757801)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37593743..37615319)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 703 Neighboring gene uncharacterized LOC101929622 Neighboring gene uncharacterized LOC102723701 Neighboring gene chromosome X open reading frame 56 pseudogene Neighboring gene pyridoxal phosphate binding protein Neighboring gene uncharacterized LOC105379381

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spastic paraplegia 18
    MedGen: C2749936 OMIM: 611225 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
      ABC transporter disorders, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form a large family of transmembrane proteins that utilise the energy from the hydrolysis of ATP to facilitate the movement of a wide variety of substrates...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Defective CFTR causes cystic fibrosis, organism-specific biosystem (from REACTOME)
      Defective CFTR causes cystic fibrosis, organism-specific biosystemCystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • FGFR1 mutant receptor activation, organism-specific biosystem (from REACTOME)
      FGFR1 mutant receptor activation, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
    • Signaling by FGFR1 in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1 in disease, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • Signaling by plasma membrane FGFR1 fusions, organism-specific biosystem (from REACTOME)
      Signaling by plasma membrane FGFR1 fusions, organism-specific biosystemIn addition to the cytosolic FGFR1 fusions identified in 8 myeloproliferative syndrome, plasma membrane localized FGFR1 fusions have been identified in glioblastoma, breast cancer and non small cell ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC87072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    SREBP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SREBP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent ERAD pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    erlin-2
    Names
    SPFH domain family, member 2
    endoplasmic reticulum lipid raft-associated protein 2
    epididymis secretory sperm binding protein
    spastic paraplegia 18 (autosomal dominant)
    stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_032059.1 RefSeqGene

      Range
      5001..26223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003790.4NP_001003790.1  erlin-2 isoform 2

      See identical proteins and their annotated locations for NP_001003790.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and lacks a portion of the 3' coding region, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC138356, BC048308, BC067765, BP363612
      Consensus CDS
      CCDS34879.1
      UniProtKB/Swiss-Prot
      O94905
      Related
      ENSP00000335220.6, ENST00000335171.10
      Conserved Domains (1) summary
      cl19107
      Location:16141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. NM_001003791.3NP_001003791.1  erlin-2 isoform 2

      See identical proteins and their annotated locations for NP_001003791.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. Variants 2 and 3 encode the same isoform (2), which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC048308, BC067765, BP353279
      Consensus CDS
      CCDS34879.1
      UniProtKB/Swiss-Prot
      O94905
      Related
      ENSP00000497100.1, ENST00000648919.1
      Conserved Domains (1) summary
      cl19107
      Location:16141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. NM_001362878.2NP_001349807.1  erlin-2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC138356, BC067765, BM511579, BP281637, BU608317, BX104878, BX281023, CB215274, CX871115
      Conserved Domains (1) summary
      cd03406
      Location:16308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    4. NM_001362880.2NP_001349809.1  erlin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC138356, BC048308, BC067765
      Conserved Domains (1) summary
      cl19107
      Location:16141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    5. NM_007175.8NP_009106.1  erlin-2 isoform 1

      See identical proteins and their annotated locations for NP_009106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC138356, BC005950, BP353279, BU608317, BX104878
      Consensus CDS
      CCDS6095.1
      UniProtKB/Swiss-Prot
      O94905
      Related
      ENSP00000428112.1, ENST00000519638.2
      Conserved Domains (1) summary
      cd03406
      Location:16308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      37736579..37757801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716280.2XP_006716343.1  erlin-2 isoform X2

      Conserved Domains (1) summary
      cl19107
      Location:1226
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. XM_005273392.3XP_005273449.1  erlin-2 isoform X1

      UniProtKB/Swiss-Prot
      O94905
      Related
      ENSP00000429621.1, ENST00000521644.5
      Conserved Domains (1) summary
      cd03406
      Location:16308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. XM_017013000.1XP_016868489.1  erlin-2 isoform X3

      UniProtKB/Swiss-Prot
      O94905
      Conserved Domains (1) summary
      cl19107
      Location:16141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    4. XM_024447058.1XP_024302826.1  erlin-2 isoform X1

      Conserved Domains (1) summary
      cd03406
      Location:16308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
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