This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of... See more...

Aliases for SPN Gene

Aliases for SPN Gene

  • Sialophorin 2 3 4 5
  • Leukosialin 2 3 4
  • GPL115 2 3 4
  • CD43 2 3 4
  • Sialophorin (GpL115, Leukosialin, CD43) 2 3
  • Leukocyte Sialoglycoprotein 3 4
  • Galactoglycoprotein 3 4
  • GALGP 3 4
  • LSN 2 3
  • CD43 Antigen 4
  • SPN 5

External Ids for SPN Gene

Previous GeneCards Identifiers for SPN Gene

  • GC16M028745
  • GC16P029998
  • GC16P029672
  • GC16P029712
  • GC16P029581
  • GC16P027335
  • GC16P029674

Summaries for SPN Gene

Entrez Gene Summary for SPN Gene

  • This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]

GeneCards Summary for SPN Gene

SPN (Sialophorin) is a Protein Coding gene. Diseases associated with SPN include Wiskott-Aldrich Syndrome and Adenoid Basal Cell Carcinoma. Among its related pathways are Cell surface interactions at the vascular wall and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot Summary for SPN Gene

  • Predominant cell surface sialoprotein of leukocytes which regulates multiple T-cell functions, including T-cell activation, proliferation, differentiation, trafficking and migration. Positively regulates T-cell trafficking to lymph-nodes via its association with ERM proteins (EZR, RDX and MSN) (By similarity). Negatively regulates Th2 cell differentiation and predisposes the differentiation of T-cells towards a Th1 lineage commitment. Promotes the expression of IFN-gamma by T-cells during T-cell receptor (TCR) activation of naive cells and induces the expression of IFN-gamma by CD4(+) T-cells and to a lesser extent by CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cells by inducing the expression of cytokine receptors IFNGR and IL4R, promoting IFNGR and IL4R signaling and by mediating the clustering of IFNGR with TCR (PubMed:24328034). Acts as a major E-selectin ligand responsible for Th17 cell rolling on activated vasculature and recruitment during inflammation. Mediates Th17 cells, but not Th1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity).
  • [CD43 cytoplasmic tail]: Protects cells from apoptotic signals, promoting cell survival.

Gene Wiki entry for SPN Gene

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

Genomics for SPN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J029661 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.5 1530 6.6 SP1 HNRNPL PRDM10 RFX1 LEF1 IKZF1 POLR2A BACH1 LARP7 STAT3 QPRT SPN ENSG00000260853 SPNS1 SMG1P5 ENSG00000260367 SMG1P2 ENSG00000198106 NFATC2IP PRR14
GH16J029669 Promoter 0.6 EPDnew 600.4 +5.3 5301 0.1 ZNF24 TARDBP POLR2A ZFP91 STAT5A MTA3 HSALNG0110625 lnc-QPRT-3 SPN QPRT C16orf54
GH16J029668 Promoter 0.4 EPDnew 600.4 +5.8 5804 0.1 ZNF24 HSALNG0110625 lnc-QPRT-3 SPN QPRT C16orf54
GH16J030398 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 11.8 +737.4 737445 3.8 BRCA1 ARHGAP35 GATAD2A PRDM10 REST ZNF629 TFE3 RFX1 SOX13 NFKBIZ piR-46669 FUS CD2BP2 SMG1P5 SRCAP INO80E RNF40 ZNF764 ZNF785 SETD1A
GH16J029335 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 -318.9 -318949 18.4 RNF2 ATF7 ZNF629 LEF1 IKZF1 BACH1 LARP7 MTA2 ZNF143 ZIC2 SPN C16orf54 GDPD3 NPIPB6 SMG1P6 CDC37P1 ENSG00000259807 SLX1B ENSG00000258130 MAPK3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the SPN gene promoter:
  • AP-1
  • p53

Genomic Locations for SPN Gene

Genomic Locations for SPN Gene
chr16:29,662,950-29,670,876
(GRCh38/hg38)
Size:
7,927 bases
Orientation:
Plus strand
chr16:29,674,300-29,682,187
(GRCh37/hg19)
Size:
7,888 bases
Orientation:
Plus strand

Genomic View for SPN Gene

Genes around SPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPN Gene

Proteins for SPN Gene

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

    Protein Symbol:
    P16150-LEUK_HUMAN
    Recommended name:
    Leukosialin
    Protein Accession:
    P16150
    Secondary Accessions:
    • A8K9B1

    Protein attributes for SPN Gene

    Size:
    400 amino acids
    Molecular mass:
    40322 Da
    Quaternary structure:
    • Interacts with HIPK2 via the cytoplasmic domain. Interacts with SIGLEC1, RDX, EZR and MSN.

neXtProt entry for SPN Gene

Post-translational modifications for SPN Gene

  • Glycosylated; has a high content of sialic acid and O-linked carbohydrate structures.
  • Phosphorylation at Ser-355 is regulated by chemokines, requires its association with ERM proteins (EZR, RDX and MSN) and is essential for its function in the regulation of T-cell trafficking to lymph nodes.
  • Has a high content of sialic acid and O-linked carbohydrate structures.
  • Cleavage by CTSG releases its extracellular domain and triggers its intramembrane proteolysis by gamma-secretase releasing the CD43 cytoplasmic tail chain (CD43-ct) which translocates to the nucleus.
  • [CD43 cytoplasmic tail]: Sumoylated.
  • Glycosylation at Thr21, Thr22, Thr26, Thr28, Ser29, Ser35, Thr36, Ser37, Ser41, Ser42, Thr46, Thr47, Ser48, Thr50, Thr58, Thr69, Ser99, Ser103, Thr109, Thr113, Ser114, Thr136, Thr137, Thr173, Thr178, and Asn239
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LEUK_HUMAN (340)

Other Protein References for SPN Gene

Antibody Products

  • Abcam antibodies for SPN

No data available for DME Specific Peptides for SPN Gene

Domains & Families for SPN Gene

Gene Families for SPN Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted membrane proteins

Protein Domains for SPN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPN Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94351, Homo sapiens sialophorin (gpL115, leukosialin, CD43) (SPN), mRNA (A8K9B1_HUMAN)
  • Sialophorin (LEUK_HUMAN)
genes like me logo Genes that share domains with SPN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPN Gene

Function for SPN Gene

Molecular function for SPN Gene

UniProtKB/Swiss-Prot Function:
Predominant cell surface sialoprotein of leukocytes which regulates multiple T-cell functions, including T-cell activation, proliferation, differentiation, trafficking and migration. Positively regulates T-cell trafficking to lymph-nodes via its association with ERM proteins (EZR, RDX and MSN) (By similarity). Negatively regulates Th2 cell differentiation and predisposes the differentiation of T-cells towards a Th1 lineage commitment. Promotes the expression of IFN-gamma by T-cells during T-cell receptor (TCR) activation of naive cells and induces the expression of IFN-gamma by CD4(+) T-cells and to a lesser extent by CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cells by inducing the expression of cytokine receptors IFNGR and IL4R, promoting IFNGR and IL4R signaling and by mediating the clustering of IFNGR with TCR (PubMed:24328034). Acts as a major E-selectin ligand responsible for Th17 cell rolling on activated vasculature and recruitment during inflammation. Mediates Th17 cells, but not Th1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity).
UniProtKB/Swiss-Prot Function:
[CD43 cytoplasmic tail]: Protects cells from apoptotic signals, promoting cell survival.
GENATLAS Biochemistry:
sialophorin (gpl115,leukosialin) binding ezrin pradixin/moesin (ERM) proteins

Phenotypes From GWAS Catalog for SPN Gene

Gene Ontology (GO) - Molecular Function for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS,IEA --
GO:0030544 Hsp70 protein binding IPI 20633027
GO:0031072 heat shock protein binding IPI 20633027
genes like me logo Genes that share ontologies with SPN: view
genes like me logo Genes that share phenotypes with SPN: view

Animal Models for SPN Gene

MGI Knock Outs for SPN:
  • Spn Spn<tm1Bam>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPN Gene

Localization for SPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPN Gene

Membrane. Single-pass type I membrane protein. Cell projection, microvillus. Cell projection, uropodium. Note=Localizes to the uropodium and microvilli via its interaction with ERM proteins (EZR, RDX and MSN). {ECO:0000250 UniProtKB:P13838, ECO:0000250 UniProtKB:P15702}.
[CD43 cytoplasmic tail]: Nucleus. Nucleus, PML body.

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 SPN gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001931 uropod ISS --
GO:0005615 extracellular space IDA 10899905
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2023632
genes like me logo Genes that share ontologies with SPN: view

Pathways & Interactions for SPN Gene

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

Pathways by source for SPN Gene

Gene Ontology (GO) - Biological Process for SPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002296 T-helper 1 cell lineage commitment IDA 18036228
GO:0006935 chemotaxis TAS 10753822
GO:0006955 immune response TAS 2023632
GO:0006968 cellular defense response TAS 1683685
GO:0007162 negative regulation of cell adhesion TAS 10753822
genes like me logo Genes that share ontologies with SPN: view

No data available for SIGNOR curated interactions for SPN Gene

Drugs & Compounds for SPN Gene

(9) Drugs for SPN Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antibodies Pharma 7499
Autoantibodies Pharma 189
Immunoglobulins Pharma 7499

(8) Additional Compounds for SPN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPN: view

Transcripts for SPN Gene

mRNA/cDNA for SPN Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 SPN

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

No ASD Table

Relevant External Links for SPN Gene

GeneLoc Exon Structure for
SPN

Expression for SPN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPN Gene

This gene is overexpressed in Whole Blood (x10.3).

Protein differential expression in normal tissues from HIPED for SPN Gene

This gene is overexpressed in Pancreas (15.1), NK cells (10.4), Nasal epithelium (8.6), CD8 Tcells (8.0), and Neutrophil (6.5).

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



Protein tissue co-expression partners for SPN Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for SPN Gene:

Hs.632188

mRNA Expression by UniProt/SwissProt for SPN Gene:

P16150-LEUK_HUMAN
Tissue specificity: Cell surface of thymocytes, T-lymphocytes, neutrophils, plasma cells and myelomas.

Evidence on tissue expression from TISSUES for SPN Gene

  • Spleen(4.8)
  • Blood(4.7)
  • Kidney(4.4)
  • Bone marrow(4.2)
  • Lymph node(4.1)
  • Intestine(3.7)
  • Lung(3.2)
  • Liver(2.7)
  • Skin(2.3)
  • Heart(2.2)
  • Bone(2.2)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with SPN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPN Gene

Orthologs for SPN Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPN 30 31
  • 99.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPN 30 31
  • 68.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spn 30 17 31
  • 67.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spn 30
  • 65.48 (n)
Dog
(Canis familiaris)
Mammalia SPN 30 31
  • 63.86 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPN 31
  • 25 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPN 31
  • 23 (a)
OneToOne
Species where no ortholog for SPN 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SPN Gene

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

Paralogs for SPN Gene

No data available for Paralogs for SPN Gene

Variants for SPN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPN Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710083 Benign: not provided 29,664,376(+) C/T SYNONYMOUS_VARIANT
717407 Benign: not provided 29,663,793(+) C/T MISSENSE_VARIANT
733825 Benign: not provided 29,664,565(+) G/A SYNONYMOUS_VARIANT
777002 Benign: not provided 29,664,403(+) C/T SYNONYMOUS_VARIANT
778501 Benign: not provided 29,664,525(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SPN Gene

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

Variant ID Type Subtype PubMed ID
dgv34n68 CNV loss 17160897
esv2758641 CNV gain 17122850
nsv1063706 CNV gain 25217958
nsv833183 CNV loss 17160897

Variation tolerance for SPN Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPN Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPN Gene

Disorders for SPN Gene

MalaCards: The human disease database

(35) MalaCards diseases for SPN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
adenoid basal cell carcinoma
  • skin adenoid basal cell carcinoma
aleukemic monocytic leukemia cutis
richter's syndrome
  • richter syndrome
multicentric papillary thyroid carcinoma
  • multicentric thyroid gland papillary carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search SPN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SPN: view

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

Publications for SPN Gene

  1. The cleavage of neutrophil leukosialin (CD43) by cathepsin G releases its extracellular domain and triggers its intramembrane proteolysis by presenilin/gamma-secretase. (PMID: 18586676) Mambole A … Halbwachs-Mecarelli L (The Journal of biological chemistry 2008) 3 4 23
  2. Amino acid sequence of human plasma galactoglycoprotein: identity with the extracellular region of CD43 (sialophorin). (PMID: 1731338) Schmid K … Walsh MT (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 23
  3. Structure of the human sialophorin (CD43) gene. Identification of features atypical of genes encoding integral membrane proteins. (PMID: 2241892) Shelley CS … Whitehead AS (The Biochemical journal 1990) 3 4 23
  4. Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16. (PMID: 2521952) Pallant A … Frelinger JG (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 4
  5. Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. (PMID: 2784859) Shelley CS … Whitehead AS (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 4

Products for SPN Gene

  • Addgene plasmids for SPN

Sources for SPN Gene