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] See more...

Aliases for PTDSS2 Gene

Aliases for PTDSS2 Gene

  • Phosphatidylserine Synthase 2 2 3 4 5
  • PSS2 2 3 4
  • Serine-Exchange Enzyme II 3 4
  • PtdSer Synthase 2 3 4
  • PSS-2 3 4
  • EC 2.7.8.29 4
  • PTDSS2 5

External Ids for PTDSS2 Gene

Previous GeneCards Identifiers for PTDSS2 Gene

  • GC11M001225
  • GC11M001017
  • GC11M000708
  • GC11P000265

Summaries for PTDSS2 Gene

Entrez Gene Summary for PTDSS2 Gene

  • 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]

GeneCards Summary for PTDSS2 Gene

PTDSS2 (Phosphatidylserine Synthase 2) is a Protein Coding gene. Diseases associated with PTDSS2 include Lenz-Majewski Hyperostotic Dwarfism. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include CDP-diacylglycerol-serine O-phosphatidyltransferase activity. An important paralog of this gene is PTDSS1.

UniProtKB/Swiss-Prot Summary for PTDSS2 Gene

  • Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine.

Additional gene information for PTDSS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTDSS2 Gene

Genomics for PTDSS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTDSS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTDSS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTDSS2

Top Transcription factor binding sites by QIAGEN in the PTDSS2 gene promoter:
  • AML1a
  • AREB6
  • Cdc5
  • Egr-2
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for PTDSS2 Gene

Genomic Locations for PTDSS2 Gene
chr11:448,215-491,400
(GRCh38/hg38)
Size:
43,186 bases
Orientation:
Plus strand
chr11:448,268-491,393
(GRCh37/hg19)
Size:
43,126 bases
Orientation:
Plus strand

Genomic View for PTDSS2 Gene

Genes around PTDSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTDSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTDSS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTDSS2 Gene

Proteins for PTDSS2 Gene

  • Protein details for PTDSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVG9-PTSS2_HUMAN
    Recommended name:
    Phosphatidylserine synthase 2
    Protein Accession:
    Q9BVG9

    Protein attributes for PTDSS2 Gene

    Size:
    487 amino acids
    Molecular mass:
    56253 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PTDSS2 Gene

Post-translational modifications for PTDSS2 Gene

  • Glycosylation at Asn181
  • Ubiquitination at Lys160, Lys271, Lys274, and Lys447
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTSS2_HUMAN (1602)

No data available for DME Specific Peptides for PTDSS2 Gene

Domains & Families for PTDSS2 Gene

Gene Families for PTDSS2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for PTDSS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTDSS2 Gene

GenScript: Design optimal peptide antigens:
  • Serine-exchange enzyme II (PTSS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BVG9

UniProtKB/Swiss-Prot:

PTSS2_HUMAN :
  • Belongs to the phosphatidyl serine synthase family.
Family:
  • Belongs to the phosphatidyl serine synthase family.
genes like me logo Genes that share domains with PTDSS2: view

Function for PTDSS2 Gene

Molecular function for PTDSS2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + L-serine = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + ethanolamine; Xref=Rhea:RHEA:27606, ChEBI:CHEBI:33384, ChEBI:CHEBI:57262, ChEBI:CHEBI:57603, ChEBI:CHEBI:64612; EC=2.7.8.29;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=120 uM for serine (in the presence of 1 mM PE) {ECO:0000269|PubMed:19014349}; Vmax=0.57 mmol/h/mg enzyme {ECO:0000269|PubMed:19014349}; pH dependence: Optimum pH is around 7.5. {ECO:0000269|PubMed:19014349};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in both the MAM and the ER per se by ethanolamine. Requires calcium ions.

Enzyme Numbers (IUBMB) for PTDSS2 Gene

Phenotypes From GWAS Catalog for PTDSS2 Gene

Gene Ontology (GO) - Molecular Function for PTDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003882 CDP-diacylglycerol-serine O-phosphatidyltransferase activity IEA --
GO:0016740 transferase activity TAS --
genes like me logo Genes that share ontologies with PTDSS2: view
genes like me logo Genes that share phenotypes with PTDSS2: view

Animal Model Products

CRISPR Products

miRNA for PTDSS2 Gene

miRTarBase miRNAs that target PTDSS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTDSS2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTDSS2 Gene

Localization for PTDSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTDSS2 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTDSS2 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PTDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTDSS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTDSS2 Gene

Pathways & Interactions for PTDSS2 Gene

genes like me logo Genes that share pathways with PTDSS2: view

Pathways by source for PTDSS2 Gene

UniProtKB/Swiss-Prot Q9BVG9-PTSS2_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylserine biosynthesis.

Gene Ontology (GO) - Biological Process for PTDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006659 phosphatidylserine biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PTDSS2: view

No data available for SIGNOR curated interactions for PTDSS2 Gene

Drugs & Compounds for PTDSS2 Gene

(4) Drugs for PTDSS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidyl serine Approved, Investigational Nutra Target 0
Ethanolamine Experimental Pharma 0
Serine Investigational Nutra Agonist, Full agonist Weak endogenous glycine receptor agonist 1156
PHOSPHATIDYLSERINE Pharma 0

(503) Additional Compounds for PTDSS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(32:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1W7)
PI(16:0/16:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoic acid
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phosphoinositol
PI(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
  • PI(34:0)
genes like me logo Genes that share compounds with PTDSS2: view

Transcripts for PTDSS2 Gene

mRNA/cDNA for PTDSS2 Gene

4 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTDSS2

Alternative Splicing Database (ASD) splice patterns (SP) for PTDSS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14
SP1: - - - -
SP2: - - -
SP3: -
SP4: - -
SP5:
SP6:

Relevant External Links for PTDSS2 Gene

GeneLoc Exon Structure for
PTDSS2

Expression for PTDSS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTDSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTDSS2 Gene

This gene is overexpressed in Testis (21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTDSS2 Gene



Protein tissue co-expression partners for PTDSS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTDSS2

SOURCE GeneReport for Unigene cluster for PTDSS2 Gene:

Hs.731700

Evidence on tissue expression from TISSUES for PTDSS2 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Blood(4.3)
genes like me logo Genes that share expression patterns with PTDSS2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTDSS2 Gene

Orthologs for PTDSS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTDSS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PTDSS2 30 31
  • 98.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptdss2 30 17 31
  • 88.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptdss2 30
  • 88.45 (n)
Dog
(Canis familiaris)
Mammalia PTDSS2 30 31
  • 88.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PTDSS2 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTDSS2 30 31
  • 77.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTDSS2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptdss2 30
  • 72.81 (n)
Str.16528 30
Zebrafish
(Danio rerio)
Actinopterygii ptdss2 30 31
  • 74.77 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea pssy-1 31
  • 26 (a)
OneToMany
pssy-2 31
  • 24 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G15110 30
  • 48.1 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0554400 30
  • 48.83 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11433 30
Species where no ortholog for PTDSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PTDSS2 Gene

ENSEMBL:
Gene Tree for PTDSS2 (if available)
TreeFam:
Gene Tree for PTDSS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTDSS2: view image

Paralogs for PTDSS2 Gene

Paralogs for PTDSS2 Gene

(1) SIMAP similar genes for PTDSS2 Gene using alignment to 3 proteins:

  • PTSS2_HUMAN
  • E9PLE4_HUMAN
  • E9PS47_HUMAN
genes like me logo Genes that share paralogs with PTDSS2: view

Variants for PTDSS2 Gene

Additional dbSNP identifiers (rs#s) for PTDSS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PTDSS2 Gene

Variant ID Type Subtype PubMed ID
dgv1505n54 CNV gain 21841781
dgv182e199 CNV deletion 23128226
dgv564n106 OTHER inversion 24896259
esv1246287 CNV insertion 17803354
esv2676383 CNV deletion 23128226
esv2759794 CNV loss 17122850
esv3367760 CNV duplication 20981092
esv987972 CNV deletion 20482838
esv993746 CNV deletion 20482838
nsv1053964 CNV gain 25217958
nsv1070421 CNV deletion 25765185
nsv1077764 OTHER inversion 25765185
nsv1121468 CNV deletion 24896259
nsv1159790 CNV deletion 26073780
nsv1159791 CNV deletion 26073780
nsv39748 CNV deletion 16902084
nsv469923 CNV loss 18288195
nsv527327 CNV loss 19592680
nsv552853 CNV loss 21841781
nsv951268 CNV deletion 24416366

Variation tolerance for PTDSS2 Gene

Residual Variation Intolerance Score: 14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTDSS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTDSS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTDSS2 Gene

Disorders for PTDSS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTDSS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lenz-majewski hyperostotic dwarfism
  • lms
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PTDSS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTDSS2 Gene

Publications for PTDSS2 Gene

  1. Purification and characterization of human phosphatidylserine synthases 1 and 2. (PMID: 19014349) Tomohiro S … Kuge O (The Biochemical journal 2009) 3 4 23
  2. Externalization of phosphatidylserine during apoptosis does not specifically require either isoform of phosphatidylserine synthase. (PMID: 14984733) Grandmaison PA … Vance JE (Biochimica et biophysica acta 2004) 2 3 26
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Phospholipid biosynthesis in mammalian cells. (PMID: 15052332) Vance JE … Vance DE (Biochemistry and cell biology = Biochimie et biologie cellulaire 2004) 23 26

Products for PTDSS2 Gene

Sources for PTDSS2 Gene