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PLSCR2 phospholipid scramblase 2 [ Homo sapiens (human) ]

Gene ID: 57047, updated on 2-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
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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 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)

Genotypes

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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