ERLIN2 - ER lipid raft associated 2 Gene

Homo sapiens

Also known as NET32; SPFH2; SPG18; C8orf2; Erlin-2

Gene ID: 11160 | Gene type: protein coding

About ERLIN2

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:37,736,634-37,758,422 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 20.3), kidney (RPKM 15.4) and 25 other tissues.

Summary

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]

ERLIN2 Products(5)

mRNA	Protein	Name
NM_001003790.4	NP_001003790.1	erlin-2 isoform 2
NM_001003791.3	NP_001003791.1	erlin-2 isoform 2
NM_001362878.2	NP_001349807.1	erlin-2 isoform 1
NM_001362880.2	NP_001349809.1	erlin-2 isoform 2
NM_007175.8	NP_009106.1	erlin-2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19240031	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	24019521	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	19240031	GOA
involved in SREBP signaling pathway	IMP IMP: Inferred from mutant phenotype	24217618	GOA
involved in negative regulation of cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	24217618	GOA
involved in negative regulation of fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	24217618	GOA
involved in regulation of cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	24217618	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16835267	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	25204797	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18468998	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERLIN2 Protein Structure

Band_7

0
100
200
300
339 a.a.

Protein Preferred Names

Protein Names

erlin-2

SPFH domain family, member 2

ERLIN2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ERLIN2	O94905	AMFR	Homo sapiens	Q9UKV5	Anti Tag CoIP	21343306
Intra	ERLIN2	O94905	AMFR	Homo sapiens	Q9UKV5	Anti Bait CoIP	21343306
Intra	ERLIN2	O94905	TMUB1	Homo sapiens	Q9BVT8	Anti Tag CoIP	21343306
Intra	ERLIN2	O94905	TMUB1	Homo sapiens	Q9BVT8	TAP	21343306
Intra	ERLIN2	O94905	ERLIN1	Homo sapiens	O75477	TAP	21343306
Intra	ERLIN2	O94905	ERLIN1	Homo sapiens	O75477	Pull Down	22119785

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spastic Paraplegia 18, Autosomal Recessive

SPG18	Idmdc
Hereditary Spastic Paraplegia 18	Intellectual Disability, Motor Dysfunction, And Joint Contractures
Autosomal Recessive Spastic Paraplegia Type 18	Autosomal Recessive Spastic Paraplegia 18
Intellectual Disability, Motor Dysfunction And Joint Contractures	Spastic Paraplegia 18
Intellectual Disability Motor Dysfunction And Joint Contractures	Paraplegia, Spastic, Type 18

Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome

Idmdc

Spastic Paraplegia 18, Autosomal Recessive

Primary Lateral Sclerosis, Juvenile

Juvenile Primary Lateral Sclerosis	JPLS
PLSJ	Juvenile Pls
Pls, Juvenile	Pls Juvenile
Sclerosis, Lateral, Juvenile Primary	Primary Lateral Sclerosis Juvenile

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 62, Autosomal Recessive

SPG62	Hereditary Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia Type 62	Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia 62	Paraplegia, Spastic, Type 62

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30	Spg30
Autosomal Recessive Spastic Paraplegia 30

Spastic Paraplegia 57, Autosomal Recessive

SPG57	Hereditary Spastic Paraplegia 57
Autosomal Recessive Spastic Paraplegia Type 57	Autosomal Recessive Spastic Paraplegia 57
Spastic Paraplegia Due To Partial Tfg Deficiency	Paraplegia, Spastic, Type 57, Autosomal Recessive

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Spastic Paraplegia 43, Autosomal Recessive

SPG43	Hereditary Spastic Paraplegia 43
Autosomal Recessive Spastic Paraplegia Type 43	Autosomal Recessive Spastic Paraplegia 43
Paraplegia, Spastic, Type 43, Autosomal Recessive

Spastic Paraplegia 44, Autosomal Recessive

SPG44	Hereditary Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia 44	Autosomal Recessive Spastic Paraplegia Type 44
Paraplegia, Spastic, Type 44, Autosomal Recessive

Pancreatic Serous Cystic Neoplasm

Pancreatic Serous Neoplasm

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Pseudobulbar Palsy

Pseudobulbar Paralysis

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Masa Syndrome

L1 Syndrome	Crash Syndrome
X-Linked Hydrocephalus Syndrome	SPG1
Gareis-Mason Syndrome	Spastic Paraplegia 1, X-Linked
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome	L1cam Syndrome
Spastic Paraplegia 1	Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Clasped Thumb And Mental Retardation	Thumb, Congenital Clasped, With Mental Retardation
Adducted Thumb With Mental Retardation	Hereditary Spastic Paraplegia 1
X-Linked Complicated Hereditary Spastic Paraplegia Type 1	X-Linked Corpus Callosum Agenesis
X-Linked Spastic Paraplegia 1	L1 Disease
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	Adducted Thumb With Intellectual Disability
Clasped Thumb And Intellectual Disability	Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
Thumb Congenital Clasped With Intellectual Disability	X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
Adducted Thumbs-Mental Retardation Syndrome	Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Mental Retardation-Clasped Thumb Syndrome	Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia Type 1, X-Linked	MASA
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus	Crash
Masa Syndrome

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

Spastic Ataxia

Spax	Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04502	ERLIN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ERLIN2	MGD	MGI:2387215
Rattus norvegicus	ERLIN2	RGD	RGD:1309010
Canis familiaris	ERLIN2	VGNC	VGNC:40460
Bos taurus	ERLIN2	VGNC	VGNC:28589
Macaca mulatta	ERLIN2	VGNC	VGNC:81398
Felis catus	ERLIN2	VGNC	VGNC:61950

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