SCARB2
Lysosome membrane protein 2
Also known as: CD36L2, HLGP85, LIMP-2, LIMPII, SCRB2_HUMAN, SR-BII
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14108
- Gene
- SCARB2
- Ensembl
- ENSG00000138760
- Chromosome
- 4
- Canonical length
- 478 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Canonical amino-acid sequenceUniProt
478 residues, UniProt reviewed canonical sequence.
>Q14108|SCARB2
1 MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF DSWEKPPLPV
61 YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI QFGDNGTTIS AVSNKAYVFE
121 RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH FLREIIEAML KAYQQKLFVT HTVDELLWGY
181 KDEILSLIHV FRPDISPYFG LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW
241 ITDKCNMING TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE
301 ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV SAIEGMHPNQ
361 EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD IRTMVFPVMY LNESVHIDKE
421 TASRLKSMIN TTLIITNIPY IIMALGVFFG LVFTWLACKG QGSMDEGTAD ERAPLIRTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SCARB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 89 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 89 nTPM
- salivary gland: 72 nTPM
- liver: 67 nTPM
- prostate: 65 nTPM
- lung: 63 nTPM
- placenta: 62 nTPM
Single-cell type
- prostatic glandular cells: 501 nCPM
- kupffer cells: 426 nCPM
- oligodendrocytes: 300 nCPM
- urothelial cells: 277 nCPM
- thymic myoid cells: 271 nCPM
- ocular epithelial cells: 214 nCPM
Immune cell
- plasmacytoid DC: 29 nTPM
- intermediate monocyte: 26 nTPM
- non-classical monocyte: 25 nTPM
- classical monocyte: 14 nTPM
- basophil: 12 nTPM
- myeloid DC: 8.1 nTPM
Brain region
- white matter: 212 nTPM
- medulla oblongata: 159 nTPM
- basal ganglia: 154 nTPM
- spinal cord: 151 nTPM
- cerebellum: 148 nTPM
- thalamus: 137 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SCARB2.
Disease | AllUniProt
Conditions SCARB2 is implicated in, by any mechanism.
- Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) MIM:254900
Disease | GeneticClinVar
38 pathogenic / likely-pathogenic of 554 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.32
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aminophospholipid transport
- autophagy
- endosome to plasma membrane protein transport
- positive regulation of neuron projection development
- protein targeting to lysosome
- receptor-mediated endocytosis
- regulation of endosome organization
- regulation of lysosome organization
- sensory perception of sound
- regulation of carbohydrate catabolic process
- regulation of glucosylceramide catabolic process
Molecular functions
- cargo receptor activity
- cholesterol binding
- enzyme binding
- phosphatidylcholine binding
- phosphatidylserine binding
- protein homodimerization activity
- protein-folding chaperone binding
- scavenger receptor activity
- transmembrane signaling receptor activity
- virus receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CD36 family
- CD36 family
- Lysosome membrane protein II
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SCARB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
- GBA1
- VP2
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SCARB2 as an antibody target. Whether an autoantibody or antibody against SCARB2 could matter depends on whether native SCARB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SCARB2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SCARB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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