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Aliases for ERLIN2 Gene

Aliases for ERLIN2 Gene

  • ER Lipid Raft Associated 2 2 3
  • C8orf2 3 4 6
  • SPFH2 3 4 6
  • 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
  • SPG18 3 6
  • Chromosome 8 Open Reading Frame 2 2
  • SPFH Domain-Containing Protein 2 4
  • Erlin-2 3
  • NET32 3

External Ids for ERLIN2 Gene

Previous Symbols for ERLIN2 Gene

  • C8orf2
  • SPFH2
  • Erlin-2

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 and spastic paraplegia 18, autosomal recessive. Among its related pathways are Cytoskeletal Signaling. 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). Also involved in ITPR1 degradation by the ERAD pathway.

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

Genomic Location for ERLIN2 Gene

Start:
37,736,227 bp from pter
End:
37,759,101 bp from pter
Size:
22,875 bases
Orientation:
Plus strand

Genomic View for ERLIN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERLIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERLIN2 Gene

Regulatory Elements 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:
    • Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170.
    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
  • Glycosylation at Asn106, Thr334, and Thr336

No data available for DME Specific Peptides for ERLIN2 Gene

Domains for ERLIN2 Gene

Protein Domains for ERLIN2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

ERLN2_HUMAN
Family:
  • Belongs to the band 7/mec-2 family.:
    • O94905
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). Also involved in ITPR1 degradation by the ERAD pathway.

Gene Ontology (GO) - Molecular Function for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19240031
genes like me logo Genes that share ontologies with ERLIN2: view

Phenotypes for ERLIN2 Gene

GenomeRNAi human phenotypes for ERLIN2:
genes like me logo Genes that share phenotypes with ERLIN2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
cytosol 3
extracellular 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:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IDA 16835267
GO:0005886 plasma membrane IDA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERLIN2: view

Pathways for ERLIN2 Gene

SuperPathways for ERLIN2 Gene

Superpath Contained pathways
1 Cytoskeletal Signaling
genes like me logo Genes that share pathways with ERLIN2: view

Pathways by source for ERLIN2 Gene

1 Cell Signaling Technology pathway for ERLIN2 Gene

Gene Ontology (GO) - Biological Process for ERLIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IDA 19240031
genes like me logo Genes that share ontologies with ERLIN2: view

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with ERLIN2: view

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 36
  • 100 (n)
  • 100 (a)
ERLIN2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERLIN2 36
  • 90.53 (n)
  • 97.04 (a)
ERLIN2 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERLIN2 36
  • 91.49 (n)
  • 95.85 (a)
ERLIN2 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erlin2 36
  • 89.28 (n)
  • 97.64 (a)
Erlin2 16
Erlin2 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERLIN2 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERLIN2 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erlin2 36
  • 89.97 (n)
  • 97.35 (a)
chicken
(Gallus gallus)
Aves ERLIN2 36
  • 79.15 (n)
  • 91.02 (a)
ERLIN2 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERLIN2 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.31380 36
tropical clawed frog
(Silurana tropicalis)
Amphibia erlin2 36
  • 75.96 (n)
  • 83.64 (a)
Str.17534 36
zebrafish
(Danio rerio)
Actinopterygii erlin2 36
  • 72.7 (n)
  • 81.29 (a)
erlin2 37
  • 71 (a)
OneToMany
ERLIN2 37
  • 79 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea erl-1 36
  • 60.77 (n)
  • 67.01 (a)
erl-1 37
  • 63 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03510 36
  • 59.93 (n)
  • 55.63 (a)
rice
(Oryza sativa)
Liliopsida Os03g0421400 36
  • 62.15 (n)
  • 62.29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11132 37
  • 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

Selected 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 MAF
rs915542 -- 37,753,795(-) CATTG(C/T)TACAT intron-variant
rs2013484 -- 37,756,022(-) tcgta(A/G/T)agatg utr-variant-3-prime
rs2032066 - 37,741,794(-) TCTTC(A/G)CCTCA missense, reference, intron-variant
rs2032067 -- 37,741,738(-) GAAGA(A/T)GGACA intron-variant
rs2032068 -- 37,741,735(-) GAAGG(A/G)CAGTG intron-variant

Relevant External Links for ERLIN2 Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for ERLIN2 Gene

Disorders for ERLIN2 Gene

(1) OMIM Diseases for ERLIN2 Gene (611605)

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.

(1) University of Copenhagen DISEASES for ERLIN2 Gene

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

Publications for ERLIN2 Gene

  1. 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
  2. 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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for ERLIN2 Gene

Sources for ERLIN2 Gene

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