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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
  • 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
  • Erlin-2

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 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. Among its related pathways are Infectious disease and Downstream signaling events of B Cell Receptor (BCR). 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

Promoters for ERLIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERLIN2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ERLIN2 Gene at MOPED

Post-translational modifications for ERLIN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERLIN2 (SPFH2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ERLIN2

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
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

CRISPR 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
Jensen Localization Image for ERLIN2 Gene COMPARTMENTS Subcellular localization image for ERLIN2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytosol 2
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0070062 extracellular exosome IDA 23376485
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

Gene Ontology (GO) - Biological Process for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045541 negative regulation of cholesterol biosynthetic process IMP 24217618
GO:0045717 negative regulation of fatty acid biosynthetic process IMP 24217618
genes like me logo Genes that share ontologies with ERLIN2: view

No data available for SIGNOR curated interactions for ERLIN2 Gene

Drugs & Compounds for ERLIN2 Gene

No Compound Related Data Available

Transcripts for ERLIN2 Gene

Unigene Clusters for ERLIN2 Gene

ER lipid raft associated 2:
Representative Sequences:

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 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, MOPED, and MaxQB for ERLIN2 Gene



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

Protein tissue co-expression partners for ERLIN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ERLIN2 35
  • 90.53 (n)
  • 97.04 (a)
ERLIN2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERLIN2 35
  • 91.49 (n)
  • 95.85 (a)
ERLIN2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erlin2 35
  • 89.28 (n)
  • 97.64 (a)
Erlin2 16
Erlin2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERLIN2 35
  • 100 (n)
  • 100 (a)
ERLIN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erlin2 35
  • 89.97 (n)
  • 97.35 (a)
oppossum
(Monodelphis domestica)
Mammalia ERLIN2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERLIN2 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLIN2 35
  • 79.15 (n)
  • 91.02 (a)
ERLIN2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERLIN2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erlin2 35
  • 75.96 (n)
  • 83.64 (a)
Str.17534 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.31380 35
zebrafish
(Danio rerio)
Actinopterygii erlin2 35
  • 72.7 (n)
  • 81.29 (a)
erlin2 36
  • 71 (a)
OneToMany
ERLIN2 36
  • 79 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea erl-1 35
  • 60.77 (n)
  • 67.01 (a)
erl-1 36
  • 63 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03510 35
  • 59.93 (n)
  • 55.63 (a)
rice
(Oryza sativa)
Liliopsida Os03g0421400 35
  • 62.15 (n)
  • 62.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11132 36
  • 64 (a)
OneToMany
Species with no ortholog for ERLIN2:
  • 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
rs2032066 - 37,741,794(-) TCTTC(A/G)CCTCA intron-variant, reference, missense
rs915542 -- 37,753,795(-) CATTG(C/T)TACAT intron-variant
rs2154451 -- 37,740,888(-) TAGAT(C/T)TGCCA intron-variant
rs2186291 -- 37,740,802(-) ATGTT(C/T)GTATT intron-variant
rs2013484 -- 37,756,022(-) tcgta(A/G/T)agatg utr-variant-3-prime

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

HapMap Linkage Disequilibrium report
ERLIN2
Human Gene Mutation Database (HGMD)
ERLIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERLIN2 Gene

Disorders for ERLIN2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spastic paraplegia 18, autosomal recessive
  • idmdc
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
  • spastic paraplegia 18, autosomal recessive
spastic paraplegia 18
  • spastic paraplegia 18, autosomal recessive
primary lateral sclerosis, juvenile
  • juvenile primary lateral sclerosis
- 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 67
  2. A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes. (PMID: 15897872) Garcia M.J. … Caldas C. (Oncogene 2005) 2 3
  3. 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. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ERLIN2 Gene

Sources for ERLIN2 Gene

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