Entity Details

Primary name SCRB2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14108
EntryNameSCRB2_HUMAN
FullNameLysosome membrane protein 2
TaxID9606
Evidenceevidence at protein level
Length478
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesSCARB2

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001618 virus receptor activity
GO:0001786 phosphatidylserine binding
GO:0004888 transmembrane signaling receptor activity
GO:0005044 scavenger receptor activity
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0006622 protein targeting to lysosome
GO:0006898 receptor-mediated endocytosis
GO:0010008 endosome membrane
GO:0010976 positive regulation of neuron projection development
GO:0015485 cholesterol binding
GO:0015917 aminophospholipid transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019899 enzyme binding
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031210 phosphatidylcholine binding
GO:0031902 late endosome membrane
GO:0038024 cargo receptor activity
GO:0042803 protein homodimerization activity
GO:0043202 lysosomal lumen
GO:0043471 regulation of cellular carbohydrate catabolic process
GO:0061024 membrane organization
GO:0070062 extracellular exosome
GO:1904978 regulation of endosome organization
GO:1905123 regulation of glucosylceramidase activity
GO:1905671 regulation of lysosome organization

Subcellular Location

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Subcellular Location
Lysosome membrane

Domains

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DomainNameCategoryType
IPR002159 CD36 familyFamilyFamily
IPR005429 Lysosome membrane protein IIFamilyFamily

Diseases

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Disease IDSourceNameDescription
254900 OMIMEpilepsy, progressive myoclonic 4, with or without renal failure (EPM4)A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved. The disease is caused by variants affecting the gene represented in this entry.