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

Gene ID: 11160, updated on 3-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
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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 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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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