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

    Gene ID: 11160, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:1356
    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; SPG18A; SPG18B; 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
    mouse all
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    Genomic context

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    See ERLIN2 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (37736634..37758422)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38013033..38034818)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37594152..37615940)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:37553145-37553688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37553689-37554231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37556665-37557176 Neighboring gene zinc finger protein 703 Neighboring gene uncharacterized LOC101929622 Neighboring gene uncharacterized LOC102723701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37594714-37595506 Neighboring gene STING1 ER exit protein 1 pseudogene Neighboring gene uncharacterized LOC124901934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27229 Neighboring gene Sharpr-MPRA regulatory region 13802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27231 Neighboring gene pyridoxal phosphate binding protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:37638448-37639647 Neighboring gene uncharacterized LOC105379381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37645266-37645774

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. Rydning SL, et al. Eur J Neurol, 2018 Jul. PMID 29528531
    2. An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18). Park JM, et al. Sci Rep, 2020 Feb 24. PMID 32094424, Free PMC Article
    3. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Yıldırım Y, et al. Hum Mol Genet, 2011 May 15. PMID 21330303
    4. Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18. de Souza GC, et al. Neurol Sci, 2024 Jun. PMID 38159148
    5. Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9. Ikegawa S, et al. Cytogenet Cell Genet, 1999. PMID 10449903

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.
      Title: The erlin1/erlin2 complex binds to and stabilizes phosphatidylinositol 3-phosphate and regulates autophagy.
    2. Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
      Title: Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
    3. KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.
      Title: KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.
    4. Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.
      Title: Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.
    5. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
      Title: A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
    6. Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression.
      Title: Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression.
    7. Expansion of the genetic landscape of ERLIN2-related disorders.
      Title: Expansion of the genetic landscape of ERLIN2-related disorders.
    8. An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
      Title: An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).
    9. Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18.
      Title: A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
    10. Here we suggest that ERLIN1 variants, previously shown in juvenile hereditary spastic paraplegia cases, may also be the cause of a slowly progressive early-onset Amyotrophic lateral sclerosis (ALS) , starting with upper motor neuron features and developing into classical ALS with the addition of lower motor neuron dysfunction.
      Title: ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 18
    MedGen: C2749936 OMIM: 611225 GeneReviews: Not available
    		Compare labs
    Spastic paraplegia 18a, autosomal dominant
    MedGen: C5882694 OMIM: 620512 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC87072

    Gene Ontology Provided by GOA

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

    General protein information

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    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)

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    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
      5056..26844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1040

    mRNA and Protein(s)

    1. NM_001003790.4 → NP_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:16 → 141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    2. NM_001003791.3 → NP_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:16 → 141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    3. NM_001362878.2 → NP_001349807.1  erlin-2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC138356, BC067765, BM511579, BP281637, BU608317, BX104878, BX281023, CB215274, CX871115
      Consensus CDS
      CCDS6095.1
      UniProtKB/Swiss-Prot
      A0JLQ1, A8K5S9, B4DM38, D3DSW0, O94905, Q6NW21, Q86VS6, Q86W49
      UniProtKB/TrEMBL
      A0A384ME54, E5RHW4
      Related
      ENSP00000429621.1, ENST00000521644.5
      Conserved Domains (1) summary
      cd03406
      Location:16 → 308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    4. NM_001362880.2 → NP_001349809.1  erlin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC138356, BC048308, BC067765
      Consensus CDS
      CCDS34879.1
      Conserved Domains (1) summary
      cl19107
      Location:16 → 141
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    5. NM_007175.8 → NP_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
      A0JLQ1, A8K5S9, B4DM38, D3DSW0, O94905, Q6NW21, Q86VS6, Q86W49
      UniProtKB/TrEMBL
      A0A384ME54, E5RHW4
      Related
      ENSP00000428112.1, ENST00000519638.3
      Conserved Domains (1) summary
      cd03406
      Location:16 → 308
      SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      37736634..37758422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421307.1 → XP_047277263.1  erlin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0JLQ1, A8K5S9, B4DM38, D3DSW0, O94905, Q6NW21, Q86VS6, Q86W49
      UniProtKB/TrEMBL
      A0A384ME54

    2. XM_047421308.1 → XP_047277264.1  erlin-2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      38013033..38034818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359677.1 → XP_054215652.1  erlin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0JLQ1, A8K5S9, B4DM38, D3DSW0, O94905, Q6NW21, Q86VS6, Q86W49
      UniProtKB/TrEMBL
      A0A384ME54

    2. XM_054359678.1 → XP_054215653.1  erlin-2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94905.1 GenPept UniProtKB/Swiss-Prot:O94905

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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