Erlin2 ER lipid raft associated 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Erlin2provided by MGI
Official Full Name: ER lipid raft associated 2provided by MGI
Primary source: MGI:MGI:2387215
See related: Ensembl:ENSMUSG00000031483 AllianceGenome:MGI:2387215
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spfh2
Summary: Predicted to enable cholesterol binding activity and ubiquitin protein ligase binding activity. Predicted to be involved in SREBP signaling pathway; negative regulation of lipid biosynthetic process; and ubiquitin-dependent ERAD pathway. Predicted to act upstream of or within cholesterol metabolic process. Predicted to be located in several cellular components, including cytosol; endoplasmic reticulum; and membrane raft. Predicted to be part of protein-containing complex. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 18. Orthologous to human ERLIN2 (ER lipid raft associated 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 24.1), genital fat pad adult (RPKM 18.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A2; 8 15.91 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (27513399..27529465)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (27023371..27039437)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The erlin2 threonine to isoleucine 65 substitution inhibits erlin1/erlin2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.
Title: The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.
2 MDa erlin1/2 complex is composed of an assemblage of lower-order hetero-oligomers, probably heterotrimers, linked together by assembly domain hydrophobic residues.
Title: Clustered hydrophobic amino acids in amphipathic helices mediate erlin1/2 complex assembly.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C87251 (e-PCR)
- UniSTS:208259

RH129952 (e-PCR)
- UniSTS:213240

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in SREBP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in SREBP signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: erlin-2

Names: SPFH domain family, member 2; SPFH domain-containing protein 2; endoplasmic reticulum lipid raft-associated protein 2; stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001364476.1 → NP_001351405.1 erlin-2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2), as well as variants 1, 4, 5, and 8, encodes isoform 1.

Source sequence(s)

AC115820, AK030557, BY123696, BY770183, CN458370, CO042185

Consensus CDS

CCDS22209.1

UniProtKB/Swiss-Prot

Q8BFZ9, Q8BML8

Conserved Domains (1) summary

cd03406
Location:16 → 308

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001364477.1 → NP_001351406.1 erlin-2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes the longest isoform (2). Variants 3 and 6 both encode the same isoform (2).

Source sequence(s)

AC115820, AK030557, CN458370, CO042185

Conserved Domains (1) summary

cd03406
Location:40 → 332

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001379175.1 → NP_001366104.1 erlin-2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (4), as well as variants 1, 2, 5, and 8, encodes isoform 1.

Source sequence(s)

AC115820

UniProtKB/Swiss-Prot

Q8BFZ9, Q8BML8

Conserved Domains (1) summary

cd03406
Location:16 → 308

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001379176.1 → NP_001366105.1 erlin-2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (5), as well as variants 1, 2, 4, and 8, encodes isoform 1.

Source sequence(s)

AC115820

UniProtKB/Swiss-Prot

Q8BFZ9, Q8BML8

Conserved Domains (1) summary

cd03406
Location:16 → 308

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001379177.1 → NP_001366106.1 erlin-2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (6), as well as variant 3, encodes isoform 2.

Source sequence(s)

AC115820

Conserved Domains (1) summary

cd03406
Location:40 → 332

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001379178.1 → NP_001366107.1 erlin-2 isoform 3

Status: VALIDATED

Source sequence(s)

AC115820

Conserved Domains (1) summary

cl19107
Location:1 → 150

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
NM_001404114.1 → NP_001391043.1 erlin-2 isoform 1

Status: VALIDATED

Source sequence(s)

AC115820

UniProtKB/Swiss-Prot

Q8BFZ9, Q8BML8
NM_001404115.1 → NP_001391044.1 erlin-2 isoform 4

Status: VALIDATED

Source sequence(s)

AC115820
NM_001404116.1 → NP_001391045.1 erlin-2 isoform 5

Status: VALIDATED

Source sequence(s)

AC115820
NM_153592.3 → NP_705820.1 erlin-2 isoform 1

See identical proteins and their annotated locations for NP_705820.1

Status: VALIDATED

Description

Transcript Variant: This variant (1), as well as variants 2, 4, 5, and 8, encodes isoform 1.

Source sequence(s)

AC115820

Consensus CDS

CCDS22209.1

UniProtKB/Swiss-Prot

Q8BFZ9, Q8BML8

Related

ENSMUSP00000033873.8, ENSMUST00000033873.9

Conserved Domains (1) summary

cd03406
Location:16 → 308

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

27513399..27529465

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154024.1 → XP_036009917.1 erlin-2 isoform X1

Conserved Domains (1) summary

cd03406
Location:40 → 332

SPFH_like_u3; Uncharacterized family; SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily