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

Gene ID: 11160, updated on 3-Jun-2018
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; Vega:OTTHUMG00000164005
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
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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spastic paraplegia 18
MedGen: C2749936 OMIM: 611225 GeneReviews: Not available
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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
  • ABC transporter disorders, organism-specific biosystem (from REACTOME)
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  • 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
Products Interactant Other Gene Complex Source Pubs Description

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 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
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 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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 
Preferred Names
erlin-2
Names
SPFH domain family, member 2
endoplasmic reticulum lipid raft-associated protein 2
spastic paraplegia 18 (autosomal dominant)
stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2

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_001003790.3NP_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)
    BC048308, BC067765, BP363612
    Consensus CDS
    CCDS34879.1
    UniProtKB/Swiss-Prot
    O94905
    Related
    ENSP00000335220.6, OTTHUMP00000225550, ENST00000335171.10, OTTHUMT00000376714
    Conserved Domains (1) summary
    cl19107
    Location:16141
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  2. NM_001003791.2NP_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
    ENSP00000380405.2, OTTHUMP00000225546, ENST00000397228.6, OTTHUMT00000376709
    Conserved Domains (1) summary
    cl19107
    Location:16141
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
  3. NM_001362878.1NP_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_001362880.1NP_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_007175.7NP_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
    ENSP00000276461.5, OTTHUMP00000225548, ENST00000276461.9
    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 details...Open this link in a new tab

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

    See identical proteins and their annotated locations for XP_005273449.1

    UniProtKB/Swiss-Prot
    O94905
    Related
    ENSP00000429621.1, OTTHUMP00000225551, 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

    Related
    ENSP00000428112.1, ENST00000519638.1
    Conserved Domains (1) summary
    cd03406
    Location:16308
    SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
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