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Aliases for ERLIN2 Gene

Aliases for ERLIN2 Gene

  • ER Lipid Raft Associated 2 2 3 5
  • Stomatin-Prohibitin-Flotillin-HflC/K Domain-Containing Protein 2 3 4
  • Endoplasmic Reticulum Lipid Raft-Associated Protein 2 3 4
  • Spastic Paraplegia 18 (Autosomal Dominant) 2 3
  • SPFH Domain Family, Member 2 2 3
  • C8orf2 3 4
  • SPFH2 3 4
  • Chromosome 8 Open Reading Frame 2 2
  • SPFH Domain-Containing Protein 2 4
  • Erlin-2 3
  • NET32 3
  • SPG18 3

External Ids for ERLIN2 Gene

Previous HGNC Symbols for ERLIN2 Gene

  • C8orf2
  • SPFH2
  • SPG18

Previous GeneCards Identifiers for ERLIN2 Gene

  • GC08P037715
  • GC08P037594
  • GC08P036128

Summaries for ERLIN2 Gene

Entrez Gene Summary for ERLIN2 Gene

  • 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]

GeneCards Summary for ERLIN2 Gene

ERLIN2 (ER Lipid Raft Associated 2) is a Protein Coding gene. Diseases associated with ERLIN2 include Spastic Paraplegia 18, Autosomal Recessive and Spastic Paraplegia 18. Among its related pathways are HIV Life Cycle and Regulation of activated PAK-2p34 by proteasome mediated degradation. An important paralog of this gene is ERLIN1.

UniProtKB/Swiss-Prot for ERLIN2 Gene

  • Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).

Gene Wiki entry for ERLIN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERLIN2 Gene

Genomics for ERLIN2 Gene

Regulatory Elements for ERLIN2 Gene


Enhancers around ERLIN2 on UCSC Golden Path with GeneCards custom track

Promoters for ERLIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001389944 522 2600 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for ERLIN2 Gene

Chromosome:
8
Start:
37,736,579 bp from pter
End:
37,759,101 bp from pter
Size:
22,523 bases
Orientation:
Plus strand

Genomic View for ERLIN2 Gene

Genes around ERLIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERLIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERLIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERLIN2 Gene

Proteins for ERLIN2 Gene

  • Protein details for ERLIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94905-ERLN2_HUMAN
    Recommended name:
    Erlin-2
    Protein Accession:
    O94905
    Secondary Accessions:
    • A0JLQ1
    • A8K5S9
    • B4DM38
    • D3DSW0
    • Q6NW21
    • Q86VS6
    • Q86W49

    Protein attributes for ERLIN2 Gene

    Size:
    339 amino acids
    Molecular mass:
    37840 Da
    Quaternary structure:
    • Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170 (PubMed:19240031, PubMed:21610068). Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Interacts with SCAP, INSIG1, SREBF1 and SREBF2 under cholesterol sufficiency conditions; indicative for an association with the SCAP-SREBP-INSIG complex (PubMed:24217618). Probably part of an AMFR/gp78 and INSIG1-containing ubiquitin ligase complex involved in ERAD of HMGCR. Interacts with TMUB1; TMUB1 bridges the association with AMFR. Interacts with SYVN1 and RNF139 (PubMed:21343306). Interacts with TMEM259 (By similarity).
    SequenceCaution:
    • Sequence=AAH50611.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ERLIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERLIN2 Gene

Post-translational modifications for ERLIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERLIN2 Gene

Domains & Families for ERLIN2 Gene

Protein Domains for ERLIN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERLIN2 Gene

Graphical View of Domain Structure for InterPro Entry

O94905

UniProtKB/Swiss-Prot:

ERLN2_HUMAN :
  • Belongs to the band 7/mec-2 family.
Family:
  • Belongs to the band 7/mec-2 family.
genes like me logo Genes that share domains with ERLIN2: view

No data available for Gene Families for ERLIN2 Gene

Function for ERLIN2 Gene

Molecular function for ERLIN2 Gene

UniProtKB/Swiss-Prot Function:
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).

Gene Ontology (GO) - Molecular Function for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005515 protein binding IPI 19240031
GO:0015485 cholesterol binding IBA --
GO:0031625 ubiquitin protein ligase binding IEA,IPI 24019521
genes like me logo Genes that share ontologies with ERLIN2: view
genes like me logo Genes that share phenotypes with ERLIN2: view

Human Phenotype Ontology for ERLIN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERLIN2 Gene

MGI Knock Outs for ERLIN2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERLIN2 Gene

Localization for ERLIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERLIN2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERLIN2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 16835267
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ERLIN2: view

Pathways & Interactions for ERLIN2 Gene

genes like me logo Genes that share pathways with ERLIN2: view

Pathways by source for ERLIN2 Gene

Gene Ontology (GO) - Biological Process for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IEA,IDA 19240031
genes like me logo Genes that share ontologies with ERLIN2: view

No data available for SIGNOR curated interactions for ERLIN2 Gene

Transcripts for ERLIN2 Gene

Unigene Clusters for ERLIN2 Gene

ER lipid raft associated 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERLIN2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for ERLIN2 Gene

GeneLoc Exon Structure for
ERLIN2
ECgene alternative splicing isoforms for
ERLIN2

Expression for ERLIN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERLIN2 Gene

Protein differential expression in normal tissues from HIPED for ERLIN2 Gene

This gene is overexpressed in Nasal epithelium (29.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERLIN2 Gene



Protein tissue co-expression partners for ERLIN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERLIN2 Gene:

ERLIN2

SOURCE GeneReport for Unigene cluster for ERLIN2 Gene:

Hs.705490

mRNA Expression by UniProt/SwissProt for ERLIN2 Gene:

O94905-ERLN2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ERLIN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ERLIN2 Gene

Orthologs for ERLIN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERLIN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERLIN2 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia ERLIN2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERLIN2 34 35
  • 91.49 (n)
cow
(Bos Taurus)
Mammalia ERLIN2 34 35
  • 90.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERLIN2 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erlin2 34
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Erlin2 34 16 35
  • 89.28 (n)
chicken
(Gallus gallus)
Aves ERLIN2 34 35
  • 79.15 (n)
lizard
(Anolis carolinensis)
Reptilia ERLIN2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erlin2 34
  • 75.96 (n)
Str.17534 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.31380 34
zebrafish
(Danio rerio)
Actinopterygii ERLIN2 35
  • 79 (a)
OneToMany
erlin2 34 35
  • 72.7 (n)
worm
(Caenorhabditis elegans)
Secernentea erl-1 34 35
  • 60.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03510 34
  • 59.93 (n)
rice
(Oryza sativa)
Liliopsida Os03g0421400 34
  • 62.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11132 35
  • 64 (a)
OneToMany
Species where no ortholog for ERLIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERLIN2 Gene

ENSEMBL:
Gene Tree for ERLIN2 (if available)
TreeFam:
Gene Tree for ERLIN2 (if available)

Paralogs for ERLIN2 Gene

Paralogs for ERLIN2 Gene

(2) SIMAP similar genes for ERLIN2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ERLIN2: view

Variants for ERLIN2 Gene

Sequence variations from dbSNP and Humsavar for ERLIN2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs398123002 Pathogenic 37,749,793(+) CTCCA(G/T)GCTGT upstream-variant-2KB, splice-acceptor-variant
rs587776893 Pathogenic 37,753,522(+) GAAGC(-/AC)CAATA reference, frameshift-variant
rs16887018 Likely benign 37,744,590(+) AAGAA(C/T)TATAC reference, synonymous-codon
rs191003311 Likely benign 37,753,445(+) TCCCC(C/G/T)TCAGA intron-variant
rs377704533 Uncertain significance 37,753,532(+) AAGGT(A/G)AAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERLIN2 Gene

Variant ID Type Subtype PubMed ID
nsv1075549 CNV deletion 25765185

Variation tolerance for ERLIN2 Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERLIN2 Gene

Human Gene Mutation Database (HGMD)
ERLIN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERLIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERLIN2 Gene

Disorders for ERLIN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ERLIN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 18, autosomal recessive
  • idmdc
spastic paraplegia 18
  • spastic paraplegia 18, autosomal recessive
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
  • spastic paraplegia 18, autosomal recessive
primary lateral sclerosis, juvenile
  • juvenile primary lateral sclerosis
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ERLN2_HUMAN
  • Spastic paraplegia 18, autosomal recessive (SPG18) [MIM:611225]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. {ECO:0000269 PubMed:21330303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERLIN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERLIN2
genes like me logo Genes that share disorders with ERLIN2: view

No data available for Genatlas for ERLIN2 Gene

Publications for ERLIN2 Gene

  1. Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER. (PMID: 16835267) Browman D.T. … Robbins S.M. (J. Cell Sci. 2006) 2 3 4 64
  2. Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9. (PMID: 10449903) Ikegawa S. … Nakamura Y. (Cytogenet. Cell Genet. 1999) 2 3 4 64
  3. Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis. (PMID: 24217618) Huber M.D. … Gerace L. (J. Cell Biol. 2013) 3 4 64
  4. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. (PMID: 21330303) Yildirim Y. … Tolun A. (Hum. Mol. Genet. 2011) 3 4 64
  5. Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase. (PMID: 21343306) Jo Y. … DeBose-Boyd R.A. (J. Biol. Chem. 2011) 3 4 64

Products for ERLIN2 Gene

Sources for ERLIN2 Gene

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