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    PTDSS2 phosphatidylserine synthase 2 [ Homo sapiens (human) ]

    Gene ID: 81490, updated on 6-Jun-2024

    Summary

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    Official Symbol
    PTDSS2provided by HGNC
    Official Full Name
    phosphatidylserine synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:15463
    See related
    Ensembl:ENSG00000174915 MIM:612793; AllianceGenome:HGNC:15463
    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
    Also known as
    PSS2
    Summary
    The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
    Expression
    Broad expression in testis (RPKM 10.7), kidney (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTDSS2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (448268..491399)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (493612..537233)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (448268..491399)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:405522-406215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:415472-416091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3004 Neighboring gene single Ig and TIR domain containing Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:420870-421731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:428546-429745 Neighboring gene uncharacterized LOC105376506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:434102-434620 Neighboring gene anoctamin 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3005 Neighboring gene Sharpr-MPRA regulatory region 223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:442612-443409 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:449779-450465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:454927-455648 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:460662-460845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:467161-467660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471334-471857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471858-472380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:476893-477888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:484337-484858 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:487868-488008 Neighboring gene MPRA-validated peak1145 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21531 Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene leucine rich repeat containing 56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:528505-529042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:533792-534649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:534650-535506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:535528-536235 Neighboring gene HRas proto-oncogene, GTPase

    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. Phospholipid biosynthesis genes and susceptibility to obesity: analysis of expression and polymorphisms. Sharma NK, et al. PLoS One, 2013. PMID 23724137, Free PMC Article
    2. Externalization of phosphatidylserine during apoptosis does not specifically require either isoform of phosphatidylserine synthase. Grandmaison PA, et al. Biochim Biophys Acta, 2004 Feb 27. PMID 14984733
    3. Phosphatidylserine synthase 2: high efficiency for synthesizing phosphatidylserine containing docosahexaenoic acid. Kimura AK, et al. J Lipid Res, 2013 Jan. PMID 23071296, Free PMC Article
    4. Purification and characterization of human phosphatidylserine synthases 1 and 2. Tomohiro S, et al. Biochem J, 2009 Mar 1. PMID 19014349
    5. Structure and expression of the murine phosphatidylserine synthase-1 gene. Sturbois-Balcerzak B, et al. J Biol Chem, 2001 Mar 16. PMID 11084049

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Purification and characterization of human phosphatidylserine synthases 1 and 2.
      Title: Purification and characterization of human phosphatidylserine synthases 1 and 2.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46373

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CDP-diacylglycerol-serine O-phosphatidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in phosphatidylserine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidylserine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylserine biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylserine synthase 2
    Names
    PSS-2
    ptdSer synthase 2
    serine-exchange enzyme II
    NP_001316473.1
    NP_001316474.1
    NP_001316477.1
    NP_110410.1
    XP_024304467.1
    XP_047283598.1
    XP_047283599.1
    XP_047283600.1
    XP_054226027.1
    XP_054226028.1
    XP_054226029.1

    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_001329544.2 → NP_001316473.1  phosphatidylserine synthase 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC137894, AC138230
      Conserved Domains (1) summary
      pfam03034
      Location:120 → 415
      PSS; Phosphatidyl serine synthase

    2. NM_001329545.2 → NP_001316474.1  phosphatidylserine synthase 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC137894, AC138230
      Conserved Domains (1) summary
      pfam03034
      Location:1 → 190
      PSS; Phosphatidyl serine synthase

    3. NM_001329548.2 → NP_001316477.1  phosphatidylserine synthase 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate splice junction compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AC137894, AC138230
      UniProtKB/TrEMBL
      A0A0J9YWQ2

    4. NM_030783.3 → NP_110410.1  phosphatidylserine synthase 2 isoform 2

      See identical proteins and their annotated locations for NP_110410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC138230, BC001210, BQ575571
      Consensus CDS
      CCDS7696.1
      UniProtKB/Swiss-Prot
      Q9BVG9
      UniProtKB/TrEMBL
      A0A0J9YWQ2
      Related
      ENSP00000308258.5, ENST00000308020.6
      Conserved Domains (1) summary
      pfam03034
      Location:120 → 399
      PSS; Phosphatidyl serine synthase

    RNA

    1. NR_138046.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction and lacks a portion of the last exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC137894, AC138230

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      448268..491399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427642.1 → XP_047283598.1  phosphatidylserine synthase 2 isoform X1

    2. XM_024448699.2 → XP_024304467.1  phosphatidylserine synthase 2 isoform X3

      UniProtKB/TrEMBL
      A0A0J9YWQ2
      Conserved Domains (1) summary
      pfam03034
      Location:60 → 355
      PSS; Phosphatidyl serine synthase

    3. XM_047427643.1 → XP_047283599.1  phosphatidylserine synthase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWQ2

    4. XM_047427644.1 → XP_047283600.1  phosphatidylserine synthase 2 isoform X4

    RNA

    1. XR_002957201.2 RNA Sequence

    2. XR_242827.2 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      3534..21040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      493612..537233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370052.1 → XP_054226027.1  phosphatidylserine synthase 2 isoform X1

    2. XM_054370054.1 → XP_054226029.1  phosphatidylserine synthase 2 isoform X3

      UniProtKB/TrEMBL
      A0A0J9YWQ2

    3. XM_054370053.1 → XP_054226028.1  phosphatidylserine synthase 2 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWQ2

    RNA

    1. XR_008488463.1 RNA Sequence

    2. XR_008488464.1 RNA Sequence

    3. XR_008488462.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVG9.1 GenPept UniProtKB/Swiss-Prot:Q9BVG9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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