ERLIN2 (ER lipid raft associated 2)

2012-11-01  

Identity

HGNC
ERLIN2
LOCATION
8p11.23
LOCUSID
11160
ALIAS
C8orf2,Erlin-2,NET32,SPFH2,SPG18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11160
MIM: 611605
HGNC: 1356
Ensembl: ENSG00000147475

Variants:

dbSNP: 11160
ClinVar: 11160
TCGA: ENSG00000147475
COSMIC: ERLIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147475ENST00000335171O94905
ENSG00000147475ENST00000518526E5RJ09
ENSG00000147475ENST00000518586O94905
ENSG00000147475ENST00000519638O94905
ENSG00000147475ENST00000519638A0A384ME54
ENSG00000147475ENST00000521644E5RHW4
ENSG00000147475ENST00000523107O94905
ENSG00000147475ENST00000523887O94905
ENSG00000147475ENST00000648919O94905

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by FGFR in diseaseREACTOMER-HSA-1226099
Signaling by FGFR1 in diseaseREACTOMER-HSA-5655302
FGFR1 mutant receptor activationREACTOMER-HSA-1839124
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Signaling by plasma membrane FGFR1 fusionsREACTOMER-HSA-8853336

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381591482024Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.0
381591482024Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.0
376836302023Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.2
377528942023A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.1
378316362023KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.0
376836302023Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.2
377528942023A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.1
378316362023KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1.0
320944242020An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).8
321479722020Expansion of the genetic landscape of ERLIN2-related disorders.6
334248302020Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression.5
320944242020An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).8
321479722020Expansion of the genetic landscape of ERLIN2-related disorders.6
334248302020Molecular and Immune Characteristics for Lung Adenocarcinoma Patients With ERLIN2 Overexpression.5
294534152018ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.13

Citation

Dessen P

ERLIN2 (ER lipid raft associated 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52961/erlin2-(er-lipid-raft-associated-2)