Entity Details

Primary name ERLN2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO94905
EntryNameERLN2_HUMAN
FullNameErlin-2
TaxID9606
Evidenceevidence at protein level
Length339
SequenceStatuscomplete
DateCreated2003-10-31
DateModified2021-06-02

Ontological Relatives

GenesERLIN2

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0008203 cholesterol metabolic process
GO:0015485 cholesterol binding
GO:0016021 integral component of membrane
GO:0030433 ubiquitin-dependent ERAD pathway
GO:0031625 ubiquitin protein ligase binding
GO:0032933 SREBP signaling pathway
GO:0032991 protein-containing complex
GO:0045121 membrane raft
GO:0045541 negative regulation of cholesterol biosynthetic process
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0055085 transmembrane transport

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001107 Band 7 domainDomainDomain
IPR033294 Erlin1/2FamilyFamily

Diseases

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Disease IDSourceNameDescription
611225 OMIMSpastic paraplegia 18, autosomal recessive (SPG18)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
ERLN2_HUMANERLN1_HUMANBioGRID, IntAct, UniProt19240031 21343306 22119785 22690709 22939629 24217618 30021884 details
ERLN2_HUMANTCPB_HUMANBioGRID23190606 details
ERLN2_HUMANNICA_HUMANBioGRID, IntAct22771797 26496610 details
ERLN2_HUMANAMFR_HUMANBioGRID, IntAct, UniProt17502376 21343306 22119785 24217618 details
ERLN2_HUMANSYVN1_HUMANBioGRID, IntAct, UniProt17502376 21343306 22119785 details
ERLN2_HUMANRN139_HUMANBioGRID, UniProt21343306 details
ERLN2_HUMANINSI1_HUMANBioGRID, UniProt21343306 22690709 24217618 32322062 details
ERLN2_HUMANTMUB1_HUMANBioGRID, UniProt21343306 details
ERLN2_HUMANHMDH_HUMANBioGRID, UniProt17502376 21343306 details
ERLN2_HUMANSTOM_HUMANBioGRID, IntAct27173435 unassigned1312 details
ERLN2_HUMANRN170_HUMANBioGRID, IntAct25882839 28514442 32614325 details
ERLN2_HUMANPSN1_HUMANBioGRID, UniProt22771797 25959826 details
ERLN2_HUMANMBRL_HUMANBioGRID, IntAct22119785 32738194 details
ERLN2_HUMANRN185_HUMANBioGRID17558393 24019521 32614325 32738194 details
ERLN2_HUMANITPR1_HUMANBioGRID17502376 19240031 25882839 details
ERLN2_HUMANPSMD2_HUMANBioGRID17502376 details
ERLN2_HUMANUFD1_HUMANBioGRID17502376 details
ERLN2_HUMANDERL1_HUMANBioGRID17502376 details
ERLN2_HUMANCD3D_HUMANBioGRID17502376 details
ERLN2_HUMANFBX6_HUMANBioGRID22268729 32409323 details
ERLN2_HUMANSCAP_HUMANBioGRID22690709 24217618 details
ERLN2_HUMANAPH1A_HUMANBioGRID22771797 details
ERLN2_HUMANPEN2_HUMANBioGRID22771797 details
ERLN2_HUMANSRBP1_HUMANBioGRID24217618 details
ERLN2_HUMANSRBP2_HUMANBioGRID24217618 details
ERLN2_HUMANSEPR_HUMANBioGRID26209915 details
ERLN2_HUMANRNF5_HUMANBioGRID24019521 details
ERLN2_HUMANTBA1B_HUMANBioGRID27462423 details
ERLN2_HUMANCDK1_HUMANBioGRID27462423 details
ERLN2_HUMANCCNB1_HUMANBioGRID27462423 details
ERLN2_HUMANTM41B_HUMANBioGRID30352685 details