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    PLSCR2 phospholipid scramblase 2 [ Homo sapiens (human) ]

    Gene ID: 57047, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLSCR2provided by HGNC
    Official Full Name
    phospholipid scramblase 2provided by HGNC
    Primary source
    HGNC:HGNC:16494
    See related
    Ensembl:ENSG00000163746 MIM:607610; AllianceGenome:HGNC:16494
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PLSCR2 in Genome Data Viewer
    Location:
    3q24
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (146391420..146495991, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (149146536..149251158, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (146109207..146213778, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phospholipid scramblase 4 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:145974007-145974996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:145974997-145975985 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:146064530-146065284 Neighboring gene PLSCR4 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:146105286-146106485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:146221410-146222226 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:146224538-146225203 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:146231939-146232440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:146239924-146240441 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:146240442-146240960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20674 Neighboring gene phospholipid scramblase 1 Neighboring gene RNA, U6 small nuclear 428, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. N-terminal proline-rich domain is required for scrambling activity of human phospholipid scramblases. Rayala S, et al. J Biol Chem, 2014 May 9. PMID 24648509, Free PMC Article
    2. Calcium binding studies of peptides of human phospholipid scramblases 1 to 4 suggest that scramblases are new class of calcium binding proteins in the cell. Sahu SK, et al. Biochim Biophys Acta, 2009 Oct. PMID 19540310
    3. Identification of three new members of the phospholipid scramblase gene family. Wiedmer T, et al. Biochim Biophys Acta, 2000 Jul 31. PMID 10930526
    4. The C. elegans homolog of human panic-disorder risk gene TMEM132D orchestrates neuronal morphogenesis through the WAVE-regulatory complex. Wang X, et al. Mol Brain, 2021 Mar 16. PMID 33726789, Free PMC Article
    5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hPLSCR1 and PRD-hPLSCR2 showed Ca(2+)-dependent aggregation and scrambling activity
      Title: N-terminal proline-rich domain is required for scrambling activity of human phospholipid scramblases.
    2. Results show that binding affinities of the peptides are in the order hPLSCR1>hPLSCR3>hPLSCR2>hPLSCR4 for Ca2+ and in the order hPLSCR1>hPLSCR2>hPLSCR3>hPLSCR4 for Mg2+.
      Title: Calcium binding studies of peptides of human phospholipid scramblases 1 to 4 suggest that scramblases are new class of calcium binding proteins in the cell.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables phospholipid scramblase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid scramblase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in plasma membrane phospholipid scrambling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane phospholipid scrambling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phospholipid scramblase 2
    Names
    PL scramblase 2
    ca(2+)-dependent phospholipid scramblase 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199978.3 → NP_001186907.1  phospholipid scramblase 2 isoform 1

      See identical proteins and their annotated locations for NP_001186907.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 7 both encode the same isoform (1).
      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS56284.1
      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Related
      ENSP00000420132.1, ENST00000497985.5
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    2. NM_001199979.1 → NP_001186908.1  phospholipid scramblase 2 isoform 2

      See identical proteins and their annotated locations for NP_001186908.1

      Status: REVIEWED

      Source sequence(s)
      AA813518, AC069528, BC055415
      Consensus CDS
      CCDS75029.1
      UniProtKB/Swiss-Prot
      Q9NRY7
      Related
      ENSP00000478902.1, ENST00000613069.4
      Conserved Domains (1) summary
      pfam03803
      Location:82 → 291
      Scramblase; Scramblase

    3. NM_001395437.1 → NP_001382366.1  phospholipid scramblase 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS3134.1
      Related
      ENSP00000512407.1, ENST00000696113.1
      Conserved Domains (1) summary
      cl02043
      Location:13 → 222
      LOR; LURP-one-related

    4. NM_001395438.1 → NP_001382367.1  phospholipid scramblase 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS3134.1
      Related
      ENSP00000512414.1, ENST00000696120.1
      Conserved Domains (1) summary
      cl02043
      Location:13 → 222
      LOR; LURP-one-related

    5. NM_001395439.1 → NP_001382368.1  phospholipid scramblase 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS3134.1
      Conserved Domains (1) summary
      cl02043
      Location:13 → 222
      LOR; LURP-one-related

    6. NM_001395440.1 → NP_001382369.1  phospholipid scramblase 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS56284.1
      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Related
      ENSP00000512413.1, ENST00000696119.1
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    7. NM_020359.4 → NP_065092.1  phospholipid scramblase 2 isoform 3

      See identical proteins and their annotated locations for NP_065092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 3-6 all encode the same isoform (3).
      Source sequence(s)
      AC069528
      Consensus CDS
      CCDS3134.1
      UniProtKB/Swiss-Prot
      Q9NRY7
      Related
      ENSP00000338707.2, ENST00000336685.6
      Conserved Domains (1) summary
      cl02043
      Location:13 → 222
      LOR; LURP-one-related

    RNA

    1. NR_172559.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528

    2. NR_172560.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528

    3. NR_172561.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069528

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      146391420..146495991 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006903.3 → XP_016862392.2  phospholipid scramblase 2 isoform X1

    2. XM_024453674.2 → XP_024309442.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    3. XM_024453672.2 → XP_024309440.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    4. XM_047448611.1 → XP_047304567.1  phospholipid scramblase 2 isoform X3

    5. XM_024453673.2 → XP_024309441.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    6. XM_047448610.1 → XP_047304566.1  phospholipid scramblase 2 isoform X3

    7. XM_024453671.2 → XP_024309439.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    8. XM_047448608.1 → XP_047304564.1  phospholipid scramblase 2 isoform X3

    9. XM_047448609.1 → XP_047304565.1  phospholipid scramblase 2 isoform X3

    10. XM_024453670.2 → XP_024309438.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7
      Conserved Domains (1) summary
      pfam03803
      Location:86 → 295
      Scramblase

    11. XM_017006911.2 → XP_016862400.1  phospholipid scramblase 2 isoform X3

      UniProtKB/Swiss-Prot
      Q9NRY7
      Conserved Domains (1) summary
      cl02043
      Location:13 → 222
      LOR; LURP-one-related

    12. XM_024453677.2 → XP_024309445.1  phospholipid scramblase 2 isoform X4

      Conserved Domains (1) summary
      cl02043
      Location:16 → 220
      LOR; LURP-one-related

    13. XM_011513023.4 → XP_011511325.3  phospholipid scramblase 2 isoform X1

    14. XM_011513022.4 → XP_011511324.3  phospholipid scramblase 2 isoform X1

    RNA

    1. XR_002959563.2 RNA Sequence

    2. XR_002959564.2 RNA Sequence

    3. XR_002959561.2 RNA Sequence

    4. XR_002959560.2 RNA Sequence

    5. XR_002959562.2 RNA Sequence

    6. XR_002959558.2 RNA Sequence

    7. XR_002959557.2 RNA Sequence

    8. XR_002959559.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      149146536..149251158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347318.1 → XP_054203293.1  phospholipid scramblase 2 isoform X1

    2. XM_054347325.1 → XP_054203300.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7

    3. XM_054347323.1 → XP_054203298.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7

    4. XM_054347330.1 → XP_054203305.1  phospholipid scramblase 2 isoform X3

    5. XM_054347324.1 → XP_054203299.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7

    6. XM_054347329.1 → XP_054203304.1  phospholipid scramblase 2 isoform X3

    7. XM_054347322.1 → XP_054203297.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7

    8. XM_054347321.1 → XP_054203296.1  phospholipid scramblase 2 isoform X2

      UniProtKB/Swiss-Prot
      B4DXC3, J3KR76, Q0VAQ1, Q6NSW9, Q7Z4L7, Q9NRY7

    9. XM_054347327.1 → XP_054203302.1  phospholipid scramblase 2 isoform X3

    10. XM_054347328.1 → XP_054203303.1  phospholipid scramblase 2 isoform X3

    11. XM_054347326.1 → XP_054203301.1  phospholipid scramblase 2 isoform X3

    12. XM_054347331.1 → XP_054203306.1  phospholipid scramblase 2 isoform X4

    13. XM_054347319.1 → XP_054203294.1  phospholipid scramblase 2 isoform X1

    14. XM_054347320.1 → XP_054203295.1  phospholipid scramblase 2 isoform X1

    RNA

    1. XR_008486764.1 RNA Sequence

    2. XR_008486765.1 RNA Sequence

    3. XR_008486762.1 RNA Sequence

    4. XR_008486761.1 RNA Sequence

    5. XR_008486763.1 RNA Sequence

    6. XR_008486758.1 RNA Sequence

    7. XR_008486759.1 RNA Sequence

    8. XR_008486760.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRY7.2 GenPept UniProtKB/Swiss-Prot:Q9NRY7

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