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

Gene ID: 11160, updated on 1-Aug-2020

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:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (37736627..37758422)
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 Sharpr-MPRA regulatory region 13802 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 Functions

What'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 PubChem

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
    5056..26844
    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, ENST00000519638.3
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    37736627..37758422
    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_024447058.1XP_024302826.1  erlin-2 isoform X1

    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
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