Erlin2 MGI Mouse Gene Detail - MGI:2387215 - ER lipid raft associated 2

Symbol

Erlin2
Name

ER lipid raft associated 2
Synonyms

MGC:27952, Spfh2

Feature Type

protein coding gene
IDs

MGI:2387215
NCBI Gene: 244373
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr8:27513399-27529465 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 15.91 cM
Mapping Data

2 experiments

SNPs within 2kb

436 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2387215	protein coding gene	Chr8:27513289-27530356 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033499	protein coding gene	Chr8:25197586-25216776 (+)
A/J	MGP_AJ_G0033479	protein coding gene	Chr8:24242102-24257716 (+)
AKR/J	MGP_AKRJ_G0033404	protein coding gene	Chr8:25042585-25058223 (+)
BALB/cJ	MGP_BALBcJ_G0033475	protein coding gene	Chr8:24398660-24414294 (+)
C3H/HeJ	MGP_C3HHeJ_G0033189	protein coding gene	Chr8:25263287-25278952 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033991	protein coding gene	Chr8:26182883-26198499 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030941	protein coding gene	Chr8:21496001-21511593 (+)
CAST/EiJ	MGP_CASTEiJ_G0032515	protein coding gene	Chr8:24750816-24763629 (+)
CBA/J	MGP_CBAJ_G0033164	protein coding gene	Chr8:27215330-27233243 (+)
DBA/2J	MGP_DBA2J_G0033319	protein coding gene	Chr8:24205485-24221183 (+)
FVB/NJ	MGP_FVBNJ_G0033263	protein coding gene	Chr8:24019133-24034794 (+)
LP/J	MGP_LPJ_G0033408	protein coding gene	Chr8:25161176-25176829 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033306	protein coding gene	Chr8:26662062-26678129 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034010	protein coding gene	Chr8:25029022-25044676 (+)
PWK/PhJ	MGP_PWKPhJ_G0032226	protein coding gene	Chr8:23867507-23880366 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032060	protein coding gene	Chr8:24409374-24426598 (+)
WSB/EiJ	MGP_WSBEiJ_G0032631	protein coding gene	Chr8:25209060-25224696 (+)

Human Ortholog

ERLIN2, ER lipid raft associated 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ERLIN2, ER lipid raft associated 2
Synonyms

C8orf2, Erlin-2, NET32, SPFH2, SPG18, SPG18A, SPG18B
Links

HGNC:1356

NCBI Gene ID: 11160

neXtProt AC: NX_O94905

UniProt: O94905
Chr Location

8p11.23; chr8:37736601-37758422 (+) GRCh38

MGI Vertebrate Homology

Erlin2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ERLIN2
Gene Tree

Erlin2

Diseases

1 with human ERLIN2 associations

				Human Disease	Mouse Models
				hereditary spastic paraplegia 18 IDs hereditary spastic paraplegia 18 DOID:0110771 ICD10CM:G11.4 OMIM:611225 ORDO:209951

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Endonuclease-mediated

2
Gene trapped

1
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

17 strains or lines available

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All GO Annotations

29
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

140
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase erlin2

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All Sequences

100
RefSeq

22
UniProt

8
CCDS

CCDS22209.1

Ensembl

ENSMUSG00000031483 (Evidence)
NCBI Gene

244373

			Length	Strain/Species	Flank
genomic	244373	NCBI Gene Model \| MGI Sequence Detail	16067	C57BL/6J	± kb
transcript	NM_001379176	RefSeq \| MGI Sequence Detail	4296	C57BL/6
polypeptide	Q8BFZ9	UniProt \| EBI \| MGI Sequence Detail	340	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000007181 erlin-2

(term hierarchy)
InterPro Domains

IPR001107 Band 7 domain

IPR036013 Band 7/SPFH domain superfamily

IPR033294 Erlin1/2
GlyGen

Q8BFZ9 2 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (1 site)

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All nucleic 140

cDNA 140

Microarray probesets 3

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MGI:2142881

Summaries

All 44

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 7
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Erlin2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr76757	Chr8:27512101-27512107 (+)	-1,295 bp
Tssr76758	Chr8:27513392-27513408 (+)	1 bp
Tssr76759	Chr8:27513821-27513838 (+)	431 bp
Tssr76760	Chr8:27513840-27513965 (+)	504 bp
Tssr2530	Chr8:27521325-27521365 (+)	7,946 bp
Tssr76761	Chr8:27528182-27528195 (+)	14,790 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24