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PLSCR2 phospholipid scramblase 2 [ Homo sapiens (human) ]

Gene ID: 57047, updated on 12-Oct-2019

Summary

Official Symbol
PLSCR2provided by HGNC
Official Full Name
phospholipid scramblase 2provided by HGNC
Primary source
HGNC:HGNC:16494
See related
Ensembl:ENSG00000163746 MIM:607610
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

Genomic context

See PLSCR2 in Genome Data Viewer
Location:
3q24
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (146391363..146497163, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (146109150..146213778, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phospholipid scramblase 4 Neighboring gene phospholipid scramblase 4 pseudogene Neighboring gene phospholipid scramblase 1 Neighboring gene RNA, U6 small nuclear 428, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
phospholipid scramblase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid scramblase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
phospholipid scrambling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid scrambling NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001199978.1NP_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).
    Source sequence(s)
    AA813518, AK301909, BC069785
    Consensus CDS
    CCDS56284.1
    UniProtKB/Swiss-Prot
    Q9NRY7
    Related
    ENSP00000420132.1, ENST00000497985.5
    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  2. NM_001199979.1NP_001186908.1  phospholipid scramblase 2 isoform 2

    See identical proteins and their annotated locations for NP_001186908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    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:82291
    Scramblase; Scramblase
  3. NM_020359.2NP_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.
    Source sequence(s)
    AA813518, AF159441, BU852276
    Consensus CDS
    CCDS3134.1
    UniProtKB/Swiss-Prot
    Q9NRY7
    Related
    ENSP00000338707.2, ENST00000336685.6
    Conserved Domains (1) summary
    cl02043
    Location:13222
    LOR; LURP-one-related

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    146391363..146497163 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  3. XM_024453674.1XP_024309442.1  phospholipid scramblase 2 isoform X2

    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  4. XM_017006910.2XP_016862399.1  phospholipid scramblase 2 isoform X3

    UniProtKB/Swiss-Prot
    Q9NRY7
    Conserved Domains (1) summary
    cl02043
    Location:13222
    LOR; LURP-one-related
  5. XM_024453673.1XP_024309441.1  phospholipid scramblase 2 isoform X2

    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  6. XM_024453671.1XP_024309439.1  phospholipid scramblase 2 isoform X2

    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  7. XM_024453670.1XP_024309438.1  phospholipid scramblase 2 isoform X2

    Conserved Domains (1) summary
    pfam03803
    Location:86295
    Scramblase; Scramblase
  8. XM_024453676.1XP_024309444.1  phospholipid scramblase 2 isoform X3

    Conserved Domains (1) summary
    cl02043
    Location:13222
    LOR; LURP-one-related
  9. XM_024453675.1XP_024309443.1  phospholipid scramblase 2 isoform X3

    Conserved Domains (1) summary
    cl02043
    Location:13222
    LOR; LURP-one-related
  10. XM_017006911.1XP_016862400.1  phospholipid scramblase 2 isoform X3

    UniProtKB/Swiss-Prot
    Q9NRY7
    Conserved Domains (1) summary
    cl02043
    Location:13222
    LOR; LURP-one-related
  11. XM_024453677.1XP_024309445.1  phospholipid scramblase 2 isoform X4

    Conserved Domains (1) summary
    cl02043
    Location:16220
    LOR; LURP-one-related
  12. XM_011513023.3XP_011511325.2  phospholipid scramblase 2 isoform X1

  13. XM_011513022.3XP_011511324.2  phospholipid scramblase 2 isoform X1

  14. XM_017006904.2XP_016862393.1  phospholipid scramblase 2 isoform X1

  15. XM_017006913.1XP_016862402.1  phospholipid scramblase 2 isoform X5

RNA

  1. XR_002959561.1 RNA Sequence

  2. XR_002959558.1 RNA Sequence

  3. XR_002959557.1 RNA Sequence

  4. XR_002959563.1 RNA Sequence

  5. XR_002959564.1 RNA Sequence

  6. XR_002959560.1 RNA Sequence

  7. XR_002959562.1 RNA Sequence

  8. XR_002959559.1 RNA Sequence

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